Variant report

Variant	nsv1004574
Chromosome Location	chr2:64360195-64478171
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2050)
CpG islands
(count:1527)
Chromatin interactive
region (count:77)
LncRNA
region (count:58)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr2:64360945-64361218	K562	blood:	n/a	n/a
2	ARID3A	chr2:64439610-64439846	K562	blood:	n/a	n/a
3	ARID3A	chr2:64371361-64371818	HepG2	liver:	n/a	n/a
4	ARID3A	chr2:64385678-64385988	HepG2	liver:	n/a	n/a
5	ARID3A	chr2:64444467-64444714	K562	blood:	n/a	n/a
6	ARID3A	chr2:64362169-64362173	K562	blood:	n/a	n/a
7	ARID3A	chr2:64462070-64462192	HepG2	liver:	n/a	n/a
8	ATF1	chr2:64439510-64439772	K562	blood:	n/a	n/a
9	ATF1	chr2:64470790-64470958	K562	blood:	n/a	n/a
10	ATF1	chr2:64440044-64440506	K562	blood:	n/a	n/a
11	ATF1	chr2:64371444-64371922	K562	blood:	n/a	n/a
12	ATF2	chr2:64419195-64419599	GM12878	blood:	n/a	n/a
13	ATF2	chr2:64369954-64370701	GM12878	blood:	n/a	n/a
14	ATF2	chr2:64369889-64370817	GM12878	blood:	n/a	n/a
15	ATF2	chr2:64431077-64431903	GM12878	blood:	n/a	n/a
16	ATF2	chr2:64406848-64407443	GM12878	blood:	n/a	n/a
17	ATF2	chr2:64439935-64442315	GM12878	blood:	n/a	n/a
18	ATF2	chr2:64439905-64440534	GM12878	blood:	n/a	n/a
19	ATF2	chr2:64419188-64419958	GM12878	blood:	n/a	n/a
20	ATF2	chr2:64371167-64371925	GM12878	blood:	n/a	n/a
21	ATF2	chr2:64406663-64407392	GM12878	blood:	n/a	n/a
22	ATF2	chr2:64431113-64432008	GM12878	blood:	n/a	n/a
23	ATF2	chr2:64440817-64442362	GM12878	blood:	n/a	n/a
24	ATF2	chr2:64434647-64435060	GM12878	blood:	n/a	n/a
25	BACH1	chr2:64440159-64440215	H1-hESC	embryonic stem cell:	n/a	n/a
26	BACH1	chr2:64380133-64380142	H1-hESC	embryonic stem cell:	n/a	n/a
27	BACH1	chr2:64455384-64455821	H1-hESC	embryonic stem cell:	n/a	n/a
28	BACH1	chr2:64370926-64370927	H1-hESC	embryonic stem cell:	n/a	n/a
29	BACH1	chr2:64404670-64404815	H1-hESC	embryonic stem cell:	n/a	n/a
30	BACH1	chr2:64416374-64416484	H1-hESC	embryonic stem cell:	n/a	n/a
31	BATF	chr2:64406971-64407410	GM12878	blood:	n/a	chr2:64407148-64407159 chr2:64407139-64407148
32	BATF	chr2:64440793-64442081	GM12878	blood:	n/a	n/a
33	BATF	chr2:64439942-64440462	GM12878	blood:	n/a	n/a
34	BATF	chr2:64431300-64431692	GM12878	blood:	n/a	n/a
35	BATF	chr2:64441380-64442276	GM12878	blood:	n/a	n/a
36	BATF	chr2:64441047-64441379	GM12878	blood:	n/a	n/a
37	BATF	chr2:64407012-64407275	GM12878	blood:	n/a	chr2:64407148-64407159 chr2:64407139-64407148
38	BATF	chr2:64439913-64440475	GM12878	blood:	n/a	n/a
39	BCL11A	chr2:64406911-64407387	GM12878	blood:	n/a	n/a
40	BCL11A	chr2:64431281-64431723	GM12878	blood:	n/a	n/a
41	BCL11A	chr2:64407123-64407321	GM12878	blood:	n/a	n/a
42	BCL11A	chr2:64440952-64442241	GM12878	blood:	n/a	chr2:64441959-64441968
43	BCL11A	chr2:64440027-64440288	GM12878	blood:	n/a	n/a
44	BCL11A	chr2:64441513-64442133	GM12878	blood:	n/a	chr2:64441959-64441968
45	BCL11A	chr2:64439962-64440570	GM12878	blood:	n/a	n/a
46	BCL11A	chr2:64431341-64431654	GM12878	blood:	n/a	n/a
47	BCL3	chr2:64441246-64442355	GM12878	blood:	n/a	chr2:64441959-64441968
48	BCL3	chr2:64439954-64440487	GM12878	blood:	n/a	n/a
49	BCL3	chr2:64407048-64407320	GM12878	blood:	n/a	n/a
50	BCL3	chr2:64431231-64431798	GM12878	blood:	n/a	n/a

(count:1527 , 50 per page) page: 1 2 3 4 5 6 7 ... 31

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:64440295-64440345	AG04450	lung:	fetal
2	chr2:64455551-64455601	ECC-1	luminal epithelium:	n/a
3	chr2:64440295-64440345	AG04450	lung:	fetal
4	chr2:64455551-64455601	ECC-1	luminal epithelium:	n/a
5	chr2:64373042-64373092	ProgFib	skin:	n/a
6	chr2:64455551-64455601	GM06990	blood:	n/a
7	chr2:64371810-64371860	BE2_C	brain:	n/a
8	chr2:64455551-64455601	NHBE	bronchial:	n/a
9	chr2:64375257-64375307	HRCEpiC	kidney:	n/a
10	chr2:64399578-64399628	U87	brain:	n/a
11	chr2:64371806-64371856	HCPEpiC	choroid plexus:	n/a
12	chr2:64455515-64455565	NHBE	bronchial:	n/a
13	chr2:64431245-64431295	HepG2	liver:	n/a
14	chr2:64455551-64455601	ovcar-3	ovarian:	n/a
15	chr2:64431245-64431295	NHDF-neo	bronchial:	n/a
16	chr2:64472941-64472991	AG09309	skin:	n/a
17	chr2:64431245-64431295	IMR90	lung:	fetal
18	chr2:64447091-64447141	ovcar-3	ovarian:	n/a
19	chr2:64455515-64455565	Jurkat	blood:	n/a
20	chr2:64371646-64371696	PANC-1	pancreas:	n/a
21	chr2:64399578-64399628	GM19239	blood:	n/a
22	chr2:64371766-64371816	U87	brain:	n/a
23	chr2:64371646-64371696	AG09309	skin:	n/a
24	chr2:64371766-64371816	AG04450	lung:	fetal
25	chr2:64399578-64399628	MCF-7	breast:	n/a
26	chr2:64371810-64371860	Hela-S3	cervix:	n/a
27	chr2:64371643-64371693	SK-N-MC	brain:	n/a
28	chr2:64431470-64431520	AG09319	gingival:	n/a
29	chr2:64477485-64477535	PANC-1	pancreas:	n/a
30	chr2:64370690-64370740	SK-N-SH_RA	brain:	n/a
31	chr2:64372160-64372210	HMEC	breast:	n/a
32	chr2:64371511-64371561	Hela-S3	cervix:	n/a
33	chr2:64375257-64375307	GM06990	blood:	n/a
34	chr2:64431470-64431520	BE2_C	brain:	n/a
35	chr2:64371530-64371580	GM19239	blood:	n/a
36	chr2:64371646-64371696	MCF10A-Er-Src	breast:	n/a
37	chr2:64477485-64477535	Caco-2	colon:	n/a
38	chr2:64371175-64371225	HAEpiC	amniotic membrane:	n/a
39	chr2:64431245-64431295	HNPCEpiC	eye:	n/a
40	chr2:64371202-64371252	HNPCEpiC	eye:	n/a
41	chr2:64372160-64372210	T-47D	breast:	n/a
42	chr2:64371202-64371252	HCPEpiC	choroid plexus:	n/a
43	chr2:64371806-64371856	AG09309	skin:	n/a
44	chr2:64373042-64373092	HIPEpiC	eye:	n/a
45	chr2:64371680-64371730	SKMC	muscle:	n/a
46	chr2:64371646-64371696	GM12878	blood:	n/a
47	chr2:64472941-64472991	HNPCEpiC	eye:	n/a
48	chr2:64477485-64477535	BJ	skin:	n/a
49	chr2:64431470-64431520	MCF-7	breast:	n/a
50	chr2:64372160-64372210	ovcar-3	ovarian:	n/a

(count:77 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr2:64445982..64446909-chr6:6687110..6688056,2	NB4	blood:
2	chr2:64401304..64403227-chr2:64446509..64448763,2	MCF-7	breast:
3	chr2:64465774..64467528-chr2:64473561..64475230,2	MCF-7	breast:
4	chr2:64354212..64356714-chr2:64359310..64361277,2	MCF-7	breast:
5	chr2:64369678..64373825-chr2:64377273..64380077,4	MCF-7	breast:
6	chr2:64389966..64392786-chr2:64393328..64395942,2	MCF-7	breast:
7	chr2:64431125..64433140-chr2:64460196..64462999,2	K562	blood:
8	chr2:64369311..64371473-chr2:64379751..64381552,2	K562	blood:
9	chr2:64245248..64247097-chr2:64369855..64371570,2	MCF-7	breast:
10	chr2:64368361..64371459-chr2:64452988..64456076,3	K562	blood:
11	chr2:64360272..64363388-chr2:64364975..64368007,3	MCF-7	breast:
12	chr2:64456564..64459506-chr2:64461164..64463105,2	K562	blood:
13	chr2:64370196..64372513-chr2:64398892..64401287,2	MCF-7	breast:
14	chr2:64464241..64466664-chr2:64467503..64470647,3	MCF-7	breast:
15	chr2:64401304..64403227-chr2:64446509..64448763,2	MCF-7	breast:
16	chr2:64464241..64466664-chr2:64467503..64470647,3	MCF-7	breast:
17	chr2:64465774..64467528-chr2:64473561..64475230,2	MCF-7	breast:
18	chr2:64453821..64455885-chr2:64458593..64460540,2	K562	blood:
19	chr2:64471845..64474737-chr2:64476534..64479111,2	MCF-7	breast:
20	chr2:64365394..64367023-chr2:64370250..64372565,2	MCF-7	breast:
21	chr2:64395283..64397063-chr2:64404889..64407856,2	K562	blood:
22	chr2:64444742..64447854-chr2:64452172..64455370,3	K562	blood:
23	chr2:64452341..64455321-chr2:64458593..64460845,2	K562	blood:
24	chr2:64368361..64371459-chr2:64452988..64456076,3	K562	blood:
25	chr2:64466015..64469336-chr2:64470306..64473031,3	K562	blood:
26	chr2:64456564..64459506-chr2:64461164..64463105,2	K562	blood:
27	chr2:64443138..64444766-chr2:64466120..64468128,2	K562	blood:
28	chr2:64379005..64381550-chr2:64383092..64384987,2	K562	blood:
29	chr2:64468295..64471597-chr2:64473646..64477829,4	K562	blood:
30	chr2:64462411..64463958-chr2:64471298..64472836,2	MCF-7	breast:
31	chr2:64438408..64440194-chr2:64451876..64454723,2	K562	blood:
32	chr2:64440052..64441742-chr2:64449595..64451315,2	K562	blood:
33	chr2:64404382..64407002-chr2:64408680..64411015,2	K562	blood:
34	chr2:64379660..64382611-chr2:64384474..64386718,2	MCF-7	breast:
35	chr2:64437286..64442036-chr2:64442990..64448045,5	K562	blood:
36	chr2:64440248..64442569-chr2:64454181..64456930,3	K562	blood:
37	chr2:64360045..64362986-chr2:64369737..64372450,3	MCF-7	breast:
38	chr2:64391692..64394480-chr2:64396237..64398356,2	K562	blood:
39	chr2:64369321..64372192-chr2:64393328..64395057,2	K562	blood:
40	chr2:64383958..64386804-chr2:64389964..64393061,3	MCF-7	breast:
41	chr2:64371841..64374701-chr2:64382172..64383968,2	MCF-7	breast:
42	chr2:64419508..64423529-chr2:64424366..64426976,3	K562	blood:
43	chr2:64369425..64370995-chr2:64403517..64405606,2	MCF-7	breast:
44	chr19:12902085..12902808-chr2:64371127..64371837,2	NB4	blood:
45	chr2:64389966..64392786-chr2:64393328..64395942,2	MCF-7	breast:
46	chr2:64376170..64379068-chr2:64379402..64380977,2	K562	blood:
47	chr2:64395283..64397063-chr2:64404889..64407856,2	K562	blood:
48	chr2:64371127..64371648-chr3:169482551..169483132,2	Hela-S3	cervix:
49	chr2:64364848..64367647-chr2:64381167..64383124,2	K562	blood:
50	chr2:64376170..64379068-chr2:64379402..64380977,2	K562	blood:

(count:58 , 50 per page) page: 1 2

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PELI1-6	chr2:64422173-64422286	ucscGeneNc_uc002scw_2
2	lnc-LGALSL-2	chr2:64456631-64456739	ENSG00000225889.3
3	lnc-LGALSL-2	chr2:64434106-64434179	ENSG00000225889
4	lnc-PELI1-2	chr2:64430424-64432619	NR_033837
5	lnc-PELI1-8	chr2:64436544-64436839	NONHSAT071095
6	lnc-PELI1-7	chr2:64435632-64435850	NONHSAT071097
7	lnc-PELI1-8	chr2:64456631-64456774	NONHSAT071095
8	lnc-LGALSL-2	chr2:64456631-64456774	NONHSAT071103
9	lnc-PELI1-2	chr2:64419490-64419592	NR_033837
10	lnc-LGALSL-2	chr2:64475458-64475672	ENSG00000225889
11	lnc-VPS54-4	chr2:64371215-64371554	NONHSAT071089
12	lnc-LGALSL-2	chr2:64456631-64456774	ENSG00000225889
13	lnc-PELI1-2	chr2:64412043-64412049	NONHSAT071093
14	lnc-LGALSL-2	chr2:64370373-64370480	ENSG00000225889
15	lnc-VPS54-4	chr2:64371215-64371530	NONHSAT071090
16	lnc-PELI1-2	chr2:64430424-64432619	XLOC_002123
17	lnc-PELI1-2	chr2:64412213-64412876	NR_033837
18	lnc-VPS54-4	chr2:64371215-64371496	NONHSAT071088
19	lnc-PELI1-6	chr2:64418709-64418995	ucscGeneNc_uc002scw_2
20	lnc-LGALSL-2	chr2:64453581-64453626	ENSG00000225889
21	lnc-PELI1-2	chr2:64412663-64412769	NONHSAT071092
22	lnc-PELI1-2	chr2:64430127-64430222	XLOC_002123
23	lnc-PELI1-6	chr2:64422173-64422285	NONHSAT071094
24	lnc-LGALSL-2	chr2:64434106-64434179	ENSG00000225889.3
25	lnc-LGALSL-2	chr2:64434109-64434179	ENSG00000225889
26	lnc-LGALSL-2	chr2:64455602-64455656	NONHSAT071103
27	lnc-PELI1-2	chr2:64430127-64430222	NR_033837
28	lnc-LGALSL-2	chr2:64456631-64456774	ENSG00000225889
29	lnc-PELI1-2	chr2:64428362-64428492	NONHSAT071093
30	lnc-PELI1-2	chr2:64412212-64412876	NONHSAT071093
31	lnc-PELI1-8	chr2:64433592-64433692	NONHSAT071095
32	lnc-LGALSL-2	chr2:64441601-64441668	ENSG00000225889
33	lnc-PELI1-2	chr2:64411124-64411305	NONHSAT071092
34	lnc-PELI1-6	chr2:64418705-64418995	NONHSAT071094
35	lnc-VPS54-4	chr2:64370452-64370660	NONHSAT071090
36	lnc-LGALSL-2	chr2:64455557-64455656	ENSG00000225889
37	lnc-LGALSL-2	chr2:64370373-64370480	ENSG00000225889.3
38	lnc-PELI1-2	chr2:64419490-64419592	NONHSAT071093
39	lnc-PELI1-8	chr2:64458202-64458974	NONHSAT071095
40	lnc-LGALSL-2	chr2:64455587-64455656	ENSG00000225889
41	lnc-LGALSL-2	chr2:64456305-64456422	ENSG00000225889
42	lnc-LGALSL-2	chr2:64455337-64455710	NONHSAT071099
43	lnc-LGALSL-2	chr2:64428882-64429028	ENSG00000225889
44	lnc-LGALSL-2	chr2:64456631-64456781	NONHSAT071099
45	lnc-PELI1-2	chr2:64428362-64428492	NR_033837
46	lnc-PELI1-2	chr2:64430424-64432619	NONHSAT071093
47	lnc-LGALSL-2	chr2:64428882-64429028	ENSG00000225889.3
48	lnc-PELI1-2	chr2:64419490-64419592	XLOC_002123
49	lnc-PELI1-2	chr2:64416151-64416266	XLOC_002123
50	lnc-LGALSL-2	chr2:64441601-64441668	ENSG00000225889.3

No data

Variant related genes	Relation type
ENSG00000270354	TF binding region
LINC00309	TF binding region
PELI1	TF binding region
ENSG00000225889	TF binding region
ENSG00000270354	CpG island
LINC00309	CpG island
PELI1	CpG island
ENSG00000225889	CpG island
ENSG00000197329	chromatin interactions
ENSG00000171223	chromatin interactions
ENSG00000143952	chromatin interactions
ENSG00000270141	chromatin interactions
ENSG00000225889	chromatin interactions
ENSG00000230923	chromatin interactions
KIAA1549	miRNA target sites
ITGA6	miRNA target sites
PLK2	miRNA target sites
CDK9	miRNA target sites
VDAC2	miRNA target sites
LBR	miRNA target sites
MAGEA12	miRNA target sites
INSIG1	miRNA target sites
SEC23A	miRNA target sites
LATS2	miRNA target sites
SIRT1	miRNA target sites
RANBP2	miRNA target sites

Extended variants
information (count: 4260 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:4260 , 50 per page) page: 1 2 3 4 5 6 7 ... 86

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs143496923	chr2:64360274-64360275	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs17028503	chr2:64360302-64360303	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs188803935	chr2:64360321-64360322	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs535641466	chr2:64360353-64360354	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs7573532	chr2:64360433-64360434	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs572760493	chr2:64360449-64360450	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs77682283	chr2:64360515-64360516	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs181235791	chr2:64360543-64360544	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs564146235	chr2:64360647-64360648	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs561320045	chr2:64360672-64360673	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs576140310	chr2:64360708-64360709	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs543430554	chr2:64360747-64360748	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs563219518	chr2:64360763-64360764	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs72893152	chr2:64360771-64360772	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs186261519	chr2:64360819-64360820	Weak transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs533983466	chr2:64360828-64360829	Weak transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs76165768	chr2:64360872-64360873	Weak transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs552290287	chr2:64360905-64360906	Weak transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs201201562	chr2:64360967-64360968	Weak transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs570605135	chr2:64361060-64361061	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs17028507	chr2:64361070-64361071	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs549718345	chr2:64361071-64361072	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs13386653	chr2:64361117-64361118	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs535354283	chr2:64361214-64361215	Weak transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs563705897	chr2:64361220-64361221	Weak transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs368187665	chr2:64361372-64361373	Weak transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs555557242	chr2:64361475-64361476	Weak transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs370662121	chr2:64361476-64361477	Weak transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs572174657	chr2:64361573-64361574	Weak transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs113822846	chr2:64361587-64361588	Weak transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs539604623	chr2:64361653-64361654	Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs143941880	chr2:64361693-64361694	Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs567103098	chr2:64361784-64361785	Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs148647698	chr2:64361821-64361822	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs58821340	chr2:64361909-64361910	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs573997974	chr2:64361929-64361930	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs555359379	chr2:64361960-64361961	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs575090746	chr2:64361973-64361974	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs542188441	chr2:64362042-64362043	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs535519359	chr2:64362074-64362075	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs560826313	chr2:64362076-64362077	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs555411992	chr2:64362088-64362089	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs376877543	chr2:64362135-64362136	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs545986248	chr2:64362140-64362141	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs564244138	chr2:64362161-64362162	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs17028509	chr2:64362182-64362183	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs544148967	chr2:64362192-64362193	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs375140423	chr2:64362214-64362215	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs367958241	chr2:64362242-64362243	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs34655717	chr2:64362276-64362277	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:63)

Disease	PMID	Source
Lynch syndrome	18415027	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17387387	CNVD
Neuroblastoma	17533364	CNVD
Neuroblastoma	18923191	CNVD
Endometrial cancer	22040021	CNVD
Adrenal tumor	17535989	CNVD
Breast cancer	21264507	CNVD
Basal cell lymphoma	17053054	CNVD
Medulloblastoma	17522785	CNVD
Cancer	23418310	CNVD
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ovarian cancer	21720365	CNVD
abnormal development	18461090	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Myelofibrosis	22110671	CNVD
Cancer	21183584	CNVD
Leukoplakia	24403051	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Colorectal cancer	16272173	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Glioblastoma multiforme	18628472	CNVD
Leukemia	18628472	CNVD

Chromatin state (count:3252 , 50 per page) page: 1 2 3 4 5 6 7 ... 66

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:64323600-64364400	Weak transcription	Fetal Brain Male	brain
2	chr2:64335000-64365200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr2:64340400-64370200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr2:64342000-64365200	Weak transcription	Left Ventricle	heart
5	chr2:64342800-64360600	Weak transcription	K562	blood
6	chr2:64342800-64362200	Weak transcription	Thymus	Thymus
7	chr2:64343800-64361800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr2:64344000-64361000	Weak transcription	Primary hematopoietic stem cells	blood
9	chr2:64344400-64360600	Weak transcription	HUVEC	blood vessel
10	chr2:64344400-64361000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr2:64347400-64368800	Weak transcription	Spleen	Spleen
12	chr2:64348400-64364600	Weak transcription	Adipose Nuclei	Adipose
13	chr2:64348400-64366400	Weak transcription	Right Atrium	heart
14	chr2:64348600-64361600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr2:64348600-64365200	Weak transcription	Fetal Muscle Leg	muscle
16	chr2:64349800-64363800	Weak transcription	Primary monocytes fromperipheralblood	blood
17	chr2:64350400-64364600	Weak transcription	Primary B cells from cord blood	blood
18	chr2:64351400-64364400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr2:64354600-64365200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr2:64354800-64363600	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr2:64354800-64364200	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr2:64355000-64360600	Enhancers	Brain Hippocampus Middle	brain
23	chr2:64355000-64362400	Weak transcription	Small Intestine	intestine
24	chr2:64355400-64368800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr2:64355800-64364400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr2:64356200-64368600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
27	chr2:64356400-64360200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
28	chr2:64356400-64360200	Weak transcription	Rectal Smooth Muscle	rectum
29	chr2:64356400-64360600	Weak transcription	NHLF	lung
30	chr2:64356400-64364000	Weak transcription	Brain Angular Gyrus	brain
31	chr2:64356400-64365200	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr2:64356400-64368200	Weak transcription	Brain Germinal Matrix	brain
33	chr2:64356400-64368800	Weak transcription	H9 Cell Line	embryonic stem cell
34	chr2:64356600-64360600	Weak transcription	Muscle Satellite Cultured Cells	--
35	chr2:64356600-64361200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr2:64357000-64360800	Weak transcription	Cortex derived primary cultured neurospheres	brain
37	chr2:64357200-64367000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr2:64357200-64368200	Weak transcription	Liver	Liver
39	chr2:64357200-64369600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
40	chr2:64357600-64361200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
41	chr2:64357800-64360400	Weak transcription	Primary T cells from cord blood	blood
42	chr2:64357800-64360800	Weak transcription	Duodenum Smooth Muscle	Duodenum
43	chr2:64357800-64361200	Weak transcription	Brain Substantia Nigra	brain
44	chr2:64357800-64363400	Weak transcription	Brain Inferior Temporal Lobe	brain
45	chr2:64357800-64366600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr2:64357800-64367000	Weak transcription	HepG2	liver
47	chr2:64358200-64360400	Weak transcription	Rectal Mucosa Donor 31	rectum
48	chr2:64358200-64360600	Weak transcription	Duodenum Mucosa	Duodenum
49	chr2:64358200-64361800	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
50	chr2:64358200-64362000	Weak transcription	Fetal Lung	lung

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