Variant report

Variant	esv34955
Chromosome Location	chr2:64312182-64521290
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3282)
CpG islands
(count:2078)
Chromatin interactive
region (count:133)
LncRNA
region (count:86)
Mature miRNA
region (count: 0)
miRNA target
sites (count:9)

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No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr2:64385678-64385988	HepG2	liver:	n/a	n/a
2	ARID3A	chr2:64356051-64356363	HepG2	liver:	n/a	n/a
3	ARID3A	chr2:64487836-64488166	K562	blood:	n/a	n/a
4	ARID3A	chr2:64444467-64444714	K562	blood:	n/a	n/a
5	ARID3A	chr2:64462070-64462192	HepG2	liver:	n/a	n/a
6	ARID3A	chr2:64362169-64362173	K562	blood:	n/a	n/a
7	ARID3A	chr2:64439610-64439846	K562	blood:	n/a	n/a
8	ARID3A	chr2:64332907-64333553	HepG2	liver:	n/a	n/a
9	ARID3A	chr2:64342846-64343283	HepG2	liver:	n/a	n/a
10	ARID3A	chr2:64360945-64361218	K562	blood:	n/a	n/a
11	ARID3A	chr2:64371361-64371818	HepG2	liver:	n/a	n/a
12	ATF1	chr2:64440044-64440506	K562	blood:	n/a	n/a
13	ATF1	chr2:64470790-64470958	K562	blood:	n/a	n/a
14	ATF1	chr2:64371444-64371922	K562	blood:	n/a	n/a
15	ATF1	chr2:64487940-64488263	K562	blood:	n/a	n/a
16	ATF1	chr2:64439510-64439772	K562	blood:	n/a	n/a
17	ATF2	chr2:64371167-64371925	GM12878	blood:	n/a	n/a
18	ATF2	chr2:64328146-64328855	GM12878	blood:	n/a	n/a
19	ATF2	chr2:64369889-64370817	GM12878	blood:	n/a	n/a
20	ATF2	chr2:64439905-64440534	GM12878	blood:	n/a	n/a
21	ATF2	chr2:64328161-64328828	GM12878	blood:	n/a	n/a
22	ATF2	chr2:64510058-64511256	GM12878	blood:	n/a	n/a
23	ATF2	chr2:64327515-64328099	GM12878	blood:	n/a	n/a
24	ATF2	chr2:64434647-64435060	GM12878	blood:	n/a	n/a
25	ATF2	chr2:64419188-64419958	GM12878	blood:	n/a	n/a
26	ATF2	chr2:64406848-64407443	GM12878	blood:	n/a	n/a
27	ATF2	chr2:64487867-64488233	GM12878	blood:	n/a	n/a
28	ATF2	chr2:64341102-64341917	GM12878	blood:	n/a	n/a
29	ATF2	chr2:64478584-64479036	H1-hESC	embryonic stem cell:	n/a	n/a
30	ATF2	chr2:64406663-64407392	GM12878	blood:	n/a	n/a
31	ATF2	chr2:64494849-64495276	H1-hESC	embryonic stem cell:	n/a	n/a
32	ATF2	chr2:64319366-64320154	GM12878	blood:	n/a	n/a
33	ATF2	chr2:64419195-64419599	GM12878	blood:	n/a	n/a
34	ATF2	chr2:64487909-64488356	GM12878	blood:	n/a	n/a
35	ATF2	chr2:64369954-64370701	GM12878	blood:	n/a	n/a
36	ATF2	chr2:64478246-64479168	H1-hESC	embryonic stem cell:	n/a	n/a
37	ATF2	chr2:64440817-64442362	GM12878	blood:	n/a	n/a
38	ATF2	chr2:64503466-64504760	H1-hESC	embryonic stem cell:	n/a	n/a
39	ATF2	chr2:64431113-64432008	GM12878	blood:	n/a	n/a
40	ATF2	chr2:64431077-64431903	GM12878	blood:	n/a	n/a
41	ATF2	chr2:64503402-64504685	H1-hESC	embryonic stem cell:	n/a	n/a
42	ATF2	chr2:64319524-64320148	GM12878	blood:	n/a	n/a
43	ATF2	chr2:64439935-64442315	GM12878	blood:	n/a	n/a
44	ATF3	chr2:64479777-64480075	K562	blood:	n/a	n/a
45	BACH1	chr2:64504316-64504948	H1-hESC	embryonic stem cell:	n/a	n/a
46	BACH1	chr2:64416374-64416484	H1-hESC	embryonic stem cell:	n/a	n/a
47	BACH1	chr2:64485758-64485792	H1-hESC	embryonic stem cell:	n/a	n/a
48	BACH1	chr2:64455384-64455821	H1-hESC	embryonic stem cell:	n/a	n/a
49	BACH1	chr2:64479899-64479984	H1-hESC	embryonic stem cell:	n/a	n/a
50	BACH1	chr2:64404670-64404815	H1-hESC	embryonic stem cell:	n/a	n/a

(count:2078 , 50 per page) page: 1 2 3 4 5 6 7 ... 42

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:64488961-64489011	NHDF-neo	bronchial:	n/a
2	chr2:64440295-64440345	HNPCEpiC	eye:	n/a
3	chr2:64431245-64431295	HEEpiC	esophagus:	n/a
4	chr2:64447091-64447141	NT2-D1	testis:	n/a
5	chr2:64488961-64489011	NHDF-neo	bronchial:	n/a
6	chr2:64440295-64440345	HNPCEpiC	eye:	n/a
7	chr2:64431245-64431295	HEEpiC	esophagus:	n/a
8	chr2:64447091-64447141	NT2-D1	testis:	n/a
9	chr2:64372160-64372210	GM12891	blood:	n/a
10	chr2:64447091-64447141	HUVEC	blood vessel:	n/a
11	chr2:64375257-64375307	AG04449	skin:	fetal
12	chr2:64356545-64356595	HNPCEpiC	eye:	n/a
13	chr2:64371643-64371693	SK-N-SH	brain:	n/a
14	chr2:64371202-64371252	HRPEpiC	eye:	n/a
15	chr2:64501134-64501184	AG04450	lung:	fetal
16	chr2:64371651-64371701	NT2-D1	testis:	n/a
17	chr2:64494859-64494909	HL-60	blood:	n/a
18	chr2:64431245-64431295	HNPCEpiC	eye:	n/a
19	chr2:64455397-64455447	HNPCEpiC	eye:	n/a
20	chr2:64371680-64371730	T-47D	breast:	n/a
21	chr2:64330510-64330560	SK-N-SH	brain:	n/a
22	chr2:64330510-64330560	HNPCEpiC	eye:	n/a
23	chr2:64506975-64507025	HEEpiC	esophagus:	n/a
24	chr2:64371651-64371701	MCF10A-Er-Src	breast:	n/a
25	chr2:64371810-64371860	PrEC	prostate:	n/a
26	chr2:64371175-64371225	AoSMC	blood vessel:	n/a
27	chr2:64371766-64371816	AG04449	skin:	fetal
28	chr2:64494859-64494909	HRE	kidney:	n/a
29	chr2:64371651-64371701	SK-N-MC	brain:	n/a
30	chr2:64371646-64371696	AG09309	skin:	n/a
31	chr2:64477485-64477535	HNPCEpiC	eye:	n/a
32	chr2:64455397-64455447	AG09319	gingival:	n/a
33	chr2:64440295-64440345	Hela-S3	cervix:	n/a
34	chr2:64371766-64371816	HCPEpiC	choroid plexus:	n/a
35	chr2:64501134-64501184	HepG2	liver:	n/a
36	chr2:64514663-64514713	NHDF-neo	bronchial:	n/a
37	chr2:64514663-64514713	GM12891	blood:	n/a
38	chr2:64494859-64494909	MCF10A-Er-Src	breast:	n/a
39	chr2:64477485-64477535	AoSMC	blood vessel:	n/a
40	chr2:64485830-64485880	HCT-116	colon:	n/a
41	chr2:64514663-64514713	HRCEpiC	kidney:	n/a
42	chr2:64371766-64371816	SK-N-SH_RA	brain:	n/a
43	chr2:64514663-64514713	HIPEpiC	eye:	n/a
44	chr2:64455551-64455601	HEK293	kidney:	embryo
45	chr2:64455515-64455565	U87	brain:	n/a
46	chr2:64431245-64431295	BJ	skin:	n/a
47	chr2:64455551-64455601	NT2-D1	testis:	n/a
48	chr2:64371643-64371693	NB4	blood:	n/a
49	chr2:64447091-64447141	AoSMC	blood vessel:	n/a
50	chr2:64370690-64370740	HCF	heart:	n/a

(count:133 , 50 per page) page: 1 2 3

No.	Distal block	Cell Line	Cell type
1	chr2:64330755..64332591-chr2:64333598..64336493,2	MCF-7	breast:
2	chr2:64488474..64490275-chr2:64553073..64555333,2	K562	blood:
3	chr2:64440248..64442569-chr2:64454181..64456930,3	K562	blood:
4	chr2:64507097..64508875-chr2:64512473..64514723,2	K562	blood:
5	chr2:64471845..64474737-chr2:64476534..64479111,2	MCF-7	breast:
6	chr2:64419508..64423529-chr2:64424366..64426976,3	K562	blood:
7	chr2:64369311..64371473-chr2:64379751..64381552,2	K562	blood:
8	chr2:64330755..64332591-chr2:64333598..64336493,2	MCF-7	breast:
9	chr2:64376170..64379068-chr2:64379402..64380977,2	K562	blood:
10	chr2:64280836..64282865-chr2:64492384..64494313,2	MCF-7	breast:
11	chr2:64368361..64371459-chr2:64452988..64456076,3	K562	blood:
12	chr2:64391692..64394480-chr2:64396237..64398356,2	K562	blood:
13	chr2:64445982..64446909-chr6:6687110..6688056,2	NB4	blood:
14	chr2:64364848..64367647-chr2:64381167..64383124,2	K562	blood:
15	chr2:64331549..64334048-chr2:64335542..64337218,2	K562	blood:
16	chr2:64355620..64357775-chr2:64369401..64371432,2	K562	blood:
17	chr2:64364848..64367647-chr2:64381167..64383124,2	K562	blood:
18	chr2:64371841..64374701-chr2:64382172..64383968,2	MCF-7	breast:
19	chr19:12902085..12902808-chr2:64371127..64371837,2	NB4	blood:
20	chr2:64389966..64392786-chr2:64393328..64395942,2	MCF-7	breast:
21	chr2:64361298..64364735-chr2:64368847..64372376,4	MCF-7	breast:
22	chr2:64404382..64407002-chr2:64408680..64411015,2	K562	blood:
23	chr2:64352794..64354467-chr2:64356091..64358987,2	K562	blood:
24	chr2:64383958..64386804-chr2:64389964..64393061,3	MCF-7	breast:
25	chr2:64369321..64372192-chr2:64393328..64395057,2	K562	blood:
26	chr2:64357649..64359489-chr2:64370869..64372689,2	K562	blood:
27	chr2:64466015..64469336-chr2:64470306..64473031,3	K562	blood:
28	chr2:64325352..64327561-chr2:64332535..64335174,2	K562	blood:
29	chr2:64360272..64363388-chr2:64364975..64368007,3	MCF-7	breast:
30	chr2:64318344..64321014-chr2:64321909..64324036,3	MCF-7	breast:
31	chr2:64419508..64423529-chr2:64424366..64426976,3	K562	blood:
32	chr2:64438408..64440194-chr2:64451876..64454723,2	K562	blood:
33	chr2:64354212..64356714-chr2:64359310..64361277,2	MCF-7	breast:
34	chr2:64347119..64349291-chr2:64370114..64372377,2	MCF-7	breast:
35	chr2:64501057..64502720-chr2:64535890..64537739,2	MCF-7	breast:
36	chr2:64339816..64342489-chr2:64352570..64354262,2	K562	blood:
37	chr2:64360045..64362986-chr2:64369737..64372450,3	MCF-7	breast:
38	chr2:64315474..64318085-chr2:64320703..64322833,2	MCF-7	breast:
39	chr2:64369425..64370995-chr2:64403517..64405606,2	MCF-7	breast:
40	chr2:64352794..64354467-chr2:64356091..64358987,2	K562	blood:
41	chr2:64341051..64343423-chr2:64345002..64348467,3	MCF-7	breast:
42	chr2:64365394..64367023-chr2:64370250..64372565,2	MCF-7	breast:
43	chr2:64432532..64434467-chr2:64436977..64439026,2	K562	blood:
44	chr2:64379660..64382611-chr2:64384474..64386718,2	MCF-7	breast:
45	chr2:64315474..64318085-chr2:64320703..64322833,2	MCF-7	breast:
46	chr2:64507097..64508875-chr2:64512473..64514723,2	K562	blood:
47	chr2:64509519..64512116-chr2:64514546..64516587,2	K562	blood:
48	chr2:64502984..64504855-chr2:64508634..64511182,2	K562	blood:
49	chr2:64510096..64512229-chr2:64522802..64524963,2	K562	blood:
50	chr2:64443138..64444766-chr2:64466120..64468128,2	K562	blood:

(count:86 , 50 per page) page: 1 2

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-LGALSL-1	chr2:64501019-64501181	XLOC_001496
2	lnc-LGALSL-2	chr2:64478935-64479072	ENSG00000225889
3	lnc-VPS54-4	chr2:64331835-64331964	NONHSAT071088
4	lnc-LGALSL-2	chr2:64456631-64456774	ENSG00000225889
5	lnc-PELI1-8	chr2:64436544-64436839	NONHSAT071095
6	lnc-LGALSL-1	chr2:64501031-64501181	XLOC_001496
7	lnc-PELI1-2	chr2:64412215-64412876	XLOC_002123
8	lnc-VPS54-4	chr2:64333312-64333433	NONHSAT071089
9	lnc-LGALSL-2	chr2:64428882-64429028	ENSG00000225889
10	lnc-LGALSL-1	chr2:64518279-64518697	XLOC_001496
11	lnc-PELI1-2	chr2:64428362-64428492	XLOC_002123
12	lnc-PELI1-2	chr2:64430127-64430222	XLOC_002123
13	lnc-LGALSL-2	chr2:64456631-64456774	NONHSAT071103
14	lnc-UGP2-3	chr2:64316219-64316574	NONHSAT071086
15	lnc-VPS54-4	chr2:64335513-64335513	NONHSAT071090
16	lnc-LGALSL-2	chr2:64455337-64455710	NONHSAT071099
17	lnc-LGALSL-2	chr2:64479554-64479960	NONHSAT071103
18	lnc-UGP2-4	chr2:64333058-64333464	ucscGeneNc_uc002scv_1
19	lnc-PELI1-2	chr2:64419490-64419592	NR_033837
20	lnc-LGALSL-2	chr2:64478253-64478489	ENSG00000225889
21	lnc-LGALSL-2	chr2:64370373-64370480	ENSG00000225889.3
22	lnc-VPS54-4	chr2:64371215-64371496	NONHSAT071088
23	lnc-PELI1-2	chr2:64412212-64412876	NONHSAT071093
24	lnc-VPS54-4	chr2:64371215-64371530	NONHSAT071090
25	lnc-PELI1-8	chr2:64456631-64456774	NONHSAT071095
26	lnc-PELI1-8	chr2:64458202-64458974	NONHSAT071095
27	lnc-PELI1-2	chr2:64419490-64419592	XLOC_002123
28	lnc-VPS54-4	chr2:64371215-64371554	NONHSAT071089
29	lnc-PELI1-2	chr2:64412663-64412769	NONHSAT071092
30	lnc-PELI1-2	chr2:64419490-64419592	NONHSAT071093
31	lnc-PELI1-1	chr2:64313484-64313656	XLOC_002122
32	lnc-PELI1-2	chr2:64416151-64416266	NR_033837
33	lnc-PELI1-2	chr2:64430424-64432619	XLOC_002123
34	lnc-UGP2-4	chr2:64331757-64332621	ucscGeneNc_uc002scv_1
35	lnc-PELI1-6	chr2:64422173-64422286	ucscGeneNc_uc002scw_2
36	lnc-LGALSL-2	chr2:64478253-64478471	ENSG00000225889
37	lnc-PELI1-2	chr2:64412213-64412876	NR_033837
38	lnc-PELI1-2	chr2:64416151-64416266	XLOC_002123
39	lnc-VPS54-4	chr2:64327532-64327633	NONHSAT071088
40	lnc-PELI1-3	chr2:64503035-64503717	XLOC_002124
41	lnc-LGALSL-2	chr2:64455557-64455656	ENSG00000225889
42	lnc-PELI1-2	chr2:64416151-64416266	NONHSAT071093
43	lnc-LGALSL-2	chr2:64370373-64370480	ENSG00000225889
44	lnc-PELI1-2	chr2:64412043-64412049	NONHSAT071093
45	lnc-LGALSL-2	chr2:64455587-64455656	ENSG00000225889
46	lnc-LGALSL-2	chr2:64434109-64434179	ENSG00000225889
47	lnc-PELI1-2	chr2:64430127-64430222	NR_033837
48	lnc-PELI1-8	chr2:64478782-64479117	NONHSAT071095
49	lnc-PELI1-3	chr2:64503965-64503985	XLOC_002124
50	lnc-LGALSL-7	chr2:64481866-64482002	NONHSAT071104

No data

(count:9 , 50 per page) page: 1

No.	miRNA target gene	miRNA name	Chromosome Location
1	PELI1	hsa-miR-155-5p	chr2:64321728-64321750
2	PELI1	hsa-miR-340-5p	chr2:64321700-64321721
3	PELI1	hsa-miR-374b-5p	chr2:64321409-64321430
4	PELI1	hsa-miR-21-5p	chr2:64321799-64321792
5	PELI1	hsa-miR-374b-5p	chr2:64320220-64320213
6	PELI1	hsa-miR-374b-5p	chr2:64320214-64320239
7	PELI1	hsa-miR-21-5p	chr2:64321793-64321813
8	PELI1	hsa-miR-340-5p	chr2:64321412-64321434
9	PELI1	hsa-miR-374b-5p	chr2:64321805-64321826

Variant related genes	Relation type
ENSG00000270354	TF binding region
ENSG00000228079	TF binding region
LINC00309	TF binding region
PELI1	TF binding region
ENSG00000225889	TF binding region
ENSG00000270354	CpG island
ENSG00000228079	CpG island
LINC00309	CpG island
PELI1	CpG island
ENSG00000225889	CpG island
ENSG00000143952	chromatin interactions
ENSG00000171223	chromatin interactions
ENSG00000230923	chromatin interactions
ENSG00000197329	chromatin interactions
ENSG00000270141	chromatin interactions
ENSG00000225889	chromatin interactions
MAGEA12	miRNA target sites
PRDM1	miRNA target sites
UBE2D2	miRNA target sites
LBR	miRNA target sites
IPPK	miRNA target sites
INSIG1	miRNA target sites
SIRT1	miRNA target sites
FUBP3	miRNA target sites
SEC23A	miRNA target sites
LATS2	miRNA target sites
CDK9	miRNA target sites
VDAC2	miRNA target sites
RANBP2	miRNA target sites
PLK2	miRNA target sites
KHSRP	miRNA target sites
CEBPZ	miRNA target sites
KIAA1549	miRNA target sites
ITGA6	miRNA target sites

Extended variants
information (count: 7652 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:7652 , 50 per page) page: 1 2 3 4 5 6 7 ... 154

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11889230	chr2:64312182-64312183	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs376077596	chr2:64312211-64312212	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs545074867	chr2:64312217-64312218	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs75560187	chr2:64312244-64312245	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs113632008	chr2:64312253-64312254	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs376881242	chr2:64312366-64312367	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs184030724	chr2:64312462-64312463	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs542916031	chr2:64312511-64312512	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs560978574	chr2:64312538-64312539	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs188385725	chr2:64312568-64312569	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs62138488	chr2:64312637-64312638	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs193025559	chr2:64312751-64312752	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs151164545	chr2:64312754-64312755	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs199905858	chr2:64312801-64312802	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs61181233	chr2:64312802-64312803	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs10165165	chr2:64312864-64312865	Enhancers Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs568846823	chr2:64312873-64312874	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs529614029	chr2:64312933-64312934	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs534042548	chr2:64312951-64312952	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs373614598	chr2:64312997-64312998	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs549674983	chr2:64313041-64313042	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs556216244	chr2:64313051-64313052	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs370842485	chr2:64313087-64313088	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs567826698	chr2:64313090-64313091	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs565555563	chr2:64313121-64313122	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs184831494	chr2:64313122-64313123	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs553176241	chr2:64313131-64313132	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs140234834	chr2:64313194-64313195	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs574104015	chr2:64313211-64313212	Weak transcription Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs186892406	chr2:64313263-64313264	Weak transcription Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs146930833	chr2:64313273-64313274	Weak transcription Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs542626378	chr2:64313279-64313280	Weak transcription Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs147563891	chr2:64313281-64313282	Weak transcription Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs556579492	chr2:64313336-64313337	Weak transcription Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs535084937	chr2:64313373-64313374	Weak transcription Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs75721007	chr2:64313380-64313381	Weak transcription Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs565117291	chr2:64313382-64313383	Weak transcription Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs532308919	chr2:64313423-64313424	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs544300271	chr2:64313516-64313517	Enhancers Weak transcription Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
40	rs142600068	chr2:64313567-64313568	Enhancers Weak transcription Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
41	rs529706592	chr2:64313585-64313586	Enhancers Weak transcription Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
42	rs191580550	chr2:64313623-64313624	Weak transcription Flanking Active TSS Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
43	rs549481444	chr2:64313667-64313668	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs544490689	chr2:64313685-64313686	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs566438769	chr2:64313756-64313757	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs183751700	chr2:64313779-64313780	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs188128423	chr2:64313788-64313789	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs182342823	chr2:64313802-64313803	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs376135710	chr2:64313854-64313855	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs146909143	chr2:64313868-64313869	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:64)

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
Non-syndromic sensorineural hearing loss	22037309	CNVD
Glioblastoma multiforme	18628472	CNVD
Leukemia	18628472	CNVD

Chromatin state (count:6465 , 50 per page) page: 1 2 3 4 5 6 7 ... 130

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:64302000-64318200	Weak transcription	Fetal Intestine Large	intestine
2	chr2:64303400-64318400	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr2:64303800-64318400	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr2:64304200-64321600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr2:64305800-64318000	Weak transcription	Fetal Intestine Small	intestine
6	chr2:64307000-64318400	Weak transcription	Placenta	Placenta
7	chr2:64307600-64313000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr2:64307600-64318400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr2:64309000-64313200	Weak transcription	Fetal Lung	lung
10	chr2:64309600-64317200	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr2:64309600-64320800	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr2:64310000-64312600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr2:64310400-64312200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr2:64311400-64321800	Weak transcription	Small Intestine	intestine
15	chr2:64311600-64312200	Enhancers	Liver	Liver
16	chr2:64311600-64314400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr2:64311800-64316800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr2:64311800-64321200	Weak transcription	K562	blood
19	chr2:64311800-64321800	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr2:64311800-64321800	Weak transcription	Brain Germinal Matrix	brain
21	chr2:64312000-64317200	Weak transcription	Primary neutrophils fromperipheralblood	blood
22	chr2:64312200-64312800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr2:64312200-64318400	Weak transcription	Liver	Liver
24	chr2:64312600-64312800	Enhancers	Psoas Muscle	Psoas
25	chr2:64312600-64313200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr2:64312800-64313400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr2:64312800-64313400	Enhancers	Skeletal Muscle Male	skeletal muscle
28	chr2:64312800-64313600	Enhancers	Cortex derived primary cultured neurospheres	brain
29	chr2:64312800-64314400	Enhancers	Breast Myoepithelial Primary Cells	Breast
30	chr2:64312800-64321200	Weak transcription	Psoas Muscle	Psoas
31	chr2:64313000-64313200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr2:64313000-64313200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
33	chr2:64313000-64313200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr2:64313000-64313200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr2:64313000-64313200	Enhancers	Skeletal Muscle Female	skeletal muscle
36	chr2:64313000-64313200	Enhancers	GM12878-XiMat	blood
37	chr2:64313000-64313400	Enhancers	Adipose Nuclei	Adipose
38	chr2:64313000-64313400	Enhancers	Brain Angular Gyrus	brain
39	chr2:64313000-64313600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr2:64313000-64313600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr2:64313000-64314600	Enhancers	Primary B cells from peripheral blood	blood
42	chr2:64313200-64313400	Enhancers	HepG2	liver
43	chr2:64313200-64313600	Enhancers	Fetal Lung	lung
44	chr2:64313200-64314200	Flanking Active TSS	GM12878-XiMat	blood
45	chr2:64313200-64321200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr2:64313200-64321400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr2:64313200-64321600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr2:64313200-64321800	Weak transcription	Skeletal Muscle Female	skeletal muscle
49	chr2:64313200-64341800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr2:64313400-64313600	Enhancers	ES-WA7 Cell Line	embryonic stem cell

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