Variant report

Variant	nsv873810
Chromosome Location	chr2:34456200-35047107
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1354)
CpG islands
(count:428)
Chromatin interactive
region (count:31)
LncRNA
region (count:57)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1354 , 50 per page) page: 1 2 3 4 5 6 7 ... 28

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr2:35041098-35041398	K562	blood:	n/a	n/a
2	ATF1	chr2:34814574-34814687	K562	blood:	n/a	n/a
3	ATF2	chr2:34492233-34492695	GM12878	blood:	n/a	n/a
4	ATF2	chr2:34590863-34591498	H1-hESC	embryonic stem cell:	n/a	n/a
5	BACH1	chr2:34989249-34989315	H1-hESC	embryonic stem cell:	n/a	n/a
6	BATF	chr2:34626271-34626588	GM12878	blood:	n/a	chr2:34626402-34626412 chr2:34626401-34626412
7	BATF	chr2:34492248-34492667	GM12878	blood:	n/a	chr2:34492484-34492495
8	BATF	chr2:34516238-34516504	GM12878	blood:	n/a	n/a
9	BATF	chr2:34881803-34882061	GM12878	blood:	n/a	n/a
10	BATF	chr2:34626250-34626627	GM12878	blood:	n/a	chr2:34626402-34626412 chr2:34626401-34626412
11	BATF	chr2:34902415-34902679	GM12878	blood:	n/a	n/a
12	BATF	chr2:34902921-34903226	GM12878	blood:	n/a	n/a
13	BATF	chr2:34516235-34516448	GM12878	blood:	n/a	n/a
14	BATF	chr2:34492306-34492669	GM12878	blood:	n/a	chr2:34492484-34492495
15	BATF	chr2:34902925-34903229	GM12878	blood:	n/a	n/a
16	BCL11A	chr2:34591088-34591422	H1-hESC	embryonic stem cell:	n/a	n/a
17	BCL11A	chr2:34626351-34626529	GM12878	blood:	n/a	chr2:34626400-34626409 chr2:34626401-34626410
18	BCL11A	chr2:34492295-34492624	GM12878	blood:	n/a	n/a
19	BCL3	chr2:34803709-34804015	GM12878	blood:	n/a	n/a
20	BCL3	chr2:34633202-34633571	GM12878	blood:	n/a	chr2:34633318-34633327 chr2:34633317-34633326
21	BCL3	chr2:34633212-34633509	GM12878	blood:	n/a	chr2:34633318-34633327 chr2:34633317-34633326
22	BHLHE40	chr2:34891473-34891834	GM12878	blood:	n/a	n/a
23	BHLHE40	chr2:34633159-34633448	GM12878	blood:	n/a	n/a
24	BHLHE40	chr2:34795688-34795858	GM12878	blood:	n/a	n/a
25	BHLHE40	chr2:34908833-34908941	GM12878	blood:	n/a	n/a
26	BHLHE40	chr2:34492074-34492695	GM12878	blood:	n/a	n/a
27	BHLHE40	chr2:34827333-34827668	GM12878	blood:	n/a	n/a
28	BHLHE40	chr2:34902255-34902723	GM12878	blood:	n/a	n/a
29	BHLHE40	chr2:34930671-34930923	GM12878	blood:	n/a	n/a
30	BHLHE40	chr2:34963851-34964109	GM12878	blood:	n/a	n/a
31	BHLHE40	chr2:35041520-35041884	HepG2	liver:	n/a	n/a
32	BHLHE40	chr2:35042118-35042381	HepG2	liver:	n/a	n/a
33	CBX3	chr2:34744823-34745018	K562	blood:	n/a	n/a
34	CCNT2	chr2:34623370-34623530	K562	blood:	n/a	n/a
35	CEBPB	chr2:34637625-34637979	A549	lung:	n/a	chr2:34637786-34637795 chr2:34637786-34637795 chr2:34637786-34637795 chr2:34637784-34637797 chr2:34637785-34637796 chr2:34637786-34637795
36	CEBPB	chr2:34531788-34532038	A549	lung:	n/a	n/a
37	CEBPB	chr2:34706655-34707006	MCF-7	breast:	n/a	chr2:34706794-34706805
38	CEBPB	chr2:34793002-34793270	HepG2	liver:	n/a	chr2:34793159-34793170 chr2:34793159-34793172 chr2:34793160-34793171
39	CEBPB	chr2:34651815-34652025	H1-hESC	embryonic stem cell:	n/a	chr2:34651953-34651964
40	CEBPB	chr2:34637610-34637983	IMR90	lung:	n/a	chr2:34637786-34637795 chr2:34637786-34637795 chr2:34637786-34637795 chr2:34637784-34637797 chr2:34637785-34637796 chr2:34637786-34637795
41	CEBPB	chr2:34610850-34611138	MCF-7	breast:	n/a	chr2:34610999-34611008 chr2:34611030-34611038 chr2:34610997-34611010 chr2:34610999-34611008 chr2:34610999-34611008 chr2:34610997-34611010 chr2:34610999-34611008 chr2:34610997-34611008 chr2:34610997-34611010 chr2:34610998-34611009 chr2:34610997-34611008
42	CEBPB	chr2:34633778-34633979	HepG2	liver:	n/a	chr2:34633880-34633891 chr2:34633878-34633891 chr2:34633878-34633889 chr2:34633878-34633891
43	CEBPB	chr2:34575982-34576211	HepG2	liver:	n/a	chr2:34576118-34576129
44	CEBPB	chr2:34505394-34505654	HepG2	liver:	n/a	chr2:34505549-34505560 chr2:34505551-34505560 chr2:34505551-34505562
45	CEBPB	chr2:34850814-34851079	HepG2	liver:	n/a	chr2:34850939-34850950 chr2:34850903-34850914
46	CEBPB	chr2:34736004-34736033	HepG2	liver:	n/a	chr2:34736017-34736028
47	CEBPB	chr2:34759886-34760188	MCF-7	breast:	n/a	chr2:34759972-34759985
48	CEBPB	chr2:34759033-34759047	HepG2	liver:	n/a	n/a
49	CEBPB	chr2:34706631-34706981	IMR90	lung:	n/a	chr2:34706794-34706805
50	CEBPB	chr2:34634613-34634777	A549	lung:	n/a	n/a

(count:428 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:34633637-34633687	BJ	skin:	n/a
2	chr2:34633637-34633687	BJ	skin:	n/a
3	chr2:34902113-34902163	HCF	heart:	n/a
4	chr2:34590591-34590641	GM12878	blood:	n/a
5	chr2:34719565-34719615	SK-N-MC	brain:	n/a
6	chr2:34590591-34590641	HEK293	kidney:	embryo
7	chr2:34719719-34719769	HEK293	kidney:	embryo
8	chr2:34852273-34852323	GM06990	blood:	n/a
9	chr2:34590591-34590641	PrEC	prostate:	n/a
10	chr2:34852273-34852323	SK-N-SH_RA	brain:	n/a
11	chr2:34719565-34719615	HIPEpiC	eye:	n/a
12	chr2:34719565-34719615	AG04449	skin:	fetal
13	chr2:34719719-34719769	AoSMC	blood vessel:	n/a
14	chr2:34719719-34719769	MCF-7	breast:	n/a
15	chr2:34902113-34902163	AG09309	skin:	n/a
16	chr2:34902113-34902163	HL-60	blood:	n/a
17	chr2:34590591-34590641	MCF-7	breast:	n/a
18	chr2:34902113-34902163	PrEC	prostate:	n/a
19	chr2:34852273-34852323	GM12891	blood:	n/a
20	chr2:34719565-34719615	HCT-116	colon:	n/a
21	chr2:34719719-34719769	NB4	blood:	n/a
22	chr2:34719719-34719769	NHBE	bronchial:	n/a
23	chr2:34590591-34590641	HRPEpiC	eye:	n/a
24	chr2:34719565-34719615	PANC-1	pancreas:	n/a
25	chr2:34719719-34719769	HAEpiC	amniotic membrane:	n/a
26	chr2:34590591-34590641	SK-N-SH_RA	brain:	n/a
27	chr2:34720275-34720325	RPTEC	kidney:	n/a
28	chr2:34590591-34590641	RPTEC	kidney:	n/a
29	chr2:34852273-34852323	HAEpiC	amniotic membrane:	n/a
30	chr2:34633637-34633687	ProgFib	skin:	n/a
31	chr2:34590591-34590641	BJ	skin:	n/a
32	chr2:34852273-34852323	BE2_C	brain:	n/a
33	chr2:34902113-34902163	AoSMC	blood vessel:	n/a
34	chr2:34902113-34902163	NHDF-neo	bronchial:	n/a
35	chr2:34590591-34590641	K562	blood:	n/a
36	chr2:34719565-34719615	HEK293	kidney:	embryo
37	chr2:34590591-34590641	AG10803	skin:	n/a
38	chr2:34719719-34719769	HCPEpiC	choroid plexus:	n/a
39	chr2:34852273-34852323	U87	brain:	n/a
40	chr2:34902113-34902163	GM19239	blood:	n/a
41	chr2:34902113-34902163	RPTEC	kidney:	n/a
42	chr2:34590591-34590641	NT2-D1	testis:	n/a
43	chr2:34902113-34902163	HRPEpiC	eye:	n/a
44	chr2:34590591-34590641	HIPEpiC	eye:	n/a
45	chr2:34720275-34720325	AG10803	skin:	n/a
46	chr2:34590591-34590641	HCM	heart:	n/a
47	chr2:34719565-34719615	ovcar-3	ovarian:	n/a
48	chr2:34902113-34902163	LNCaP	prostate:	n/a
49	chr2:34902113-34902163	GM06990	blood:	n/a
50	chr2:34720275-34720325	HCPEpiC	choroid plexus:	n/a

(count:31 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:34469910..34471896-chr2:34475795..34477495,2	MCF-7	breast:
2	chr2:34520994..34523413-chr2:34524356..34526580,2	MCF-7	breast:
3	chr2:34237581..34238416-chr2:34963443..34964247,2	MCF-7	breast:
4	chr2:34707651..34709954-chr2:34710435..34712219,2	MCF-7	breast:
5	chr2:34237506..34238447-chr2:34795265..34796658,5	MCF-7	breast:
6	chr17:76778253..76778888-chr2:34769758..34770277,2	MCF-7	breast:
7	chr2:34636657..34638446-chr2:34644514..34646250,2	K562	blood:
8	chr2:34321239..34322372-chr2:34772370..34773083,4	MCF-7	breast:
9	chr2:34590795..34592507-chr2:34600278..34603033,2	K562	blood:
10	chr2:34636657..34638446-chr2:34644514..34646250,2	K562	blood:
11	chr2:34876891..34879240-chr2:34886043..34888561,2	K562	blood:
12	chr2:34624209..34626557-chr2:34688886..34690644,2	K562	blood:
13	chr2:33906151..33906814-chr2:34795262..34796206,5	MCF-7	breast:
14	chr2:35006274..35008792-chr8:67342394..67345182,2	MCF-7	breast:
15	chr2:34929052..34931868-chr2:34933062..34935710,2	K562	blood:
16	chr2:34707651..34709954-chr2:34710435..34712219,2	MCF-7	breast:
17	chr2:34321381..34322557-chr2:34795669..34796275,5	MCF-7	breast:
18	chr2:34469910..34471896-chr2:34475795..34477495,2	MCF-7	breast:
19	chr12:46765173..46767943-chr2:34590937..34593382,2	MCF-7	breast:
20	chr2:34237681..34238401-chr2:34795339..34796232,5	MCF-7	breast:
21	chr17:57969237..57970939-chr2:34675539..34678526,2	MCF-7	breast:
22	chr17:41466170..41467868-chr2:34623111..34624611,2	MCF-7	breast:
23	chr2:34520994..34523413-chr2:34524356..34526580,2	MCF-7	breast:
24	chr2:34624209..34626557-chr2:34688886..34690644,2	K562	blood:
25	chr2:34795663..34796225-chr8:85142407..85143298,2	MCF-7	breast:
26	chr2:34541264..34543781-chr2:34553502..34555371,2	MCF-7	breast:
27	chr2:34876891..34879240-chr2:34886043..34888561,2	K562	blood:
28	chr2:34451708..34454413-chr2:34493747..34495311,2	K562	blood:
29	chr2:34929052..34931868-chr2:34933062..34935710,2	K562	blood:
30	chr2:34590795..34592507-chr2:34600278..34603033,2	K562	blood:
31	chr2:34541264..34543781-chr2:34553502..34555371,2	MCF-7	breast:

(count:57 , 50 per page) page: 1 2

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RASGRP3-3	chr2:34860316-34860407	ENSG00000226785
2	lnc-FAM98A-10	chr2:35034320-35034623	NONHSAT070053
3	lnc-RASGRP3-13	chr2:34463088-34463140	NONHSAT070033
4	lnc-RASGRP3-4	chr2:34938646-34938840	ENSG00000228262.4
5	lnc-RASGRP3-3	chr2:34609584-34609636	ENSG00000226785
6	lnc-FAM98A-8	chr2:34917357-34917552	ENSG00000272027.1
7	lnc-RASGRP3-4	chr2:34959627-34961285	NONHSAT070048
8	lnc-RASGRP3-14	chr2:34815892-34816802	NONHSAT070039
9	lnc-RASGRP3-14	chr2:34800570-34801134	NONHSAT070037
10	lnc-RASGRP3-4	chr2:34962388-34963298	ENSG00000228262
11	lnc-RASGRP3-4	chr2:34947066-34947580	ENSG00000228262.4
12	lnc-RASGRP3-14	chr2:34800570-34803561	l_1807_chr2:34789043-34803561_liver
13	lnc-RASGRP3-4	chr2:34947066-34950118	NONHSAT070045
14	lnc-RASGRP3-4	chr2:34935519-34935580	ENSG00000228262.4
15	lnc-RASGRP3-13	chr2:34713820-34713911	NONHSAT070033
16	lnc-RASGRP3-3	chr2:34609584-34609796	NONHSAT070034
17	lnc-RASGRP3-4	chr2:34947066-34947188	ENSG00000228262.4
18	lnc-RASGRP3-4	chr2:34957515-34957624	ENSG00000228262.4
19	lnc-RASGRP3-4	chr2:34962172-34963510	NONHSAT070051
20	lnc-RASGRP3-4	chr2:34957515-34957624	ENSG00000228262
21	lnc-RASGRP3-14	chr2:34756150-34756498	NONHSAT070037
22	lnc-RASGRP3-14	chr2:34815937-34816109	l_1807_chr2:34789043-34803561_liver
23	lnc-RASGRP3-4	chr2:34902711-34902994	NONHSAT070044
24	lnc-RASGRP3-4	chr2:34935519-34935571	NONHSAT070044
25	lnc-RASGRP3-4	chr2:34938657-34938840	ENSG00000228262.4
26	lnc-RASGRP3-3	chr2:34511701-34511813	NONHSAT070034
27	lnc-RASGRP3-4	chr2:34956433-34956605	ENSG00000228262.4
28	lnc-RASGRP3-4	chr2:34962388-34962644	ENSG00000228262.4
29	lnc-RASGRP3-4	chr2:34938646-34938840	ENSG00000228262.4
30	lnc-RASGRP3-4	chr2:34947066-34947186	ENSG00000228262.4
31	lnc-RASGRP3-4	chr2:34929778-34929989	ENSG00000228262.4
32	lnc-RASGRP3-5	chr2:35041549-35041945	XLOC_001426
33	lnc-RASGRP3-14	chr2:34789044-34789084	l_1807_chr2:34789043-34803561_liver
34	lnc-RASGRP3-14	chr2:34811019-34811128	NONHSAT070039
35	lnc-CRIM1-1	chr2:35024917-35024966	XLOC_001425
36	lnc-FAM98A-2	chr2:34960042-34960174	ENSG00000232153
37	lnc-RASGRP3-4	chr2:34938657-34938840	ENSG00000228262
38	lnc-RASGRP3-4	chr2:34962388-34962638	ENSG00000228262.4
39	lnc-FAM98A-7	chr2:34823138-34823205	NONHSAT070038
40	lnc-RASGRP3-14	chr2:34792150-34792344	NONHSAT070037
41	lnc-RASGRP3-13	chr2:34462359-34462780	NONHSAT070033
42	lnc-RASGRP3-4	chr2:34960145-34960753	ENSG00000228262.4
43	lnc-RASGRP3-14	chr2:34792161-34792344	NONHSAT070039
44	lnc-RASGRP3-4	chr2:34978401-34978447	NONHSAT070051
45	lnc-FAM98A-7	chr2:34787656-34787849	NONHSAT070038
46	lnc-RASGRP3-14	chr2:34792147-34792344	l_1807_chr2:34789043-34803561_liver
47	lnc-RASGRP3-15	chr2:34909934-34910063	NONHSAT070041
48	lnc-FAM98A-2	chr2:34962148-34962185	ENSG00000232153
49	lnc-RASGRP3-5	chr2:35042159-35042319	XLOC_001426
50	lnc-RASGRP3-15	chr2:34878421-34878470	NONHSAT070041

No data

Variant related genes	Relation type
ENSG00000272027	TF binding region
ENSG00000232153	TF binding region
ENSG00000228262	TF binding region
ENSG00000212025	TF binding region
ENSG00000226994	TF binding region
ENSG00000226785	TF binding region
RN7SL602P	TF binding region
ENSG00000272027	CpG island
ENSG00000232153	CpG island
ENSG00000228262	CpG island
ENSG00000212025	CpG island
ENSG00000226994	CpG island
ENSG00000226785	CpG island
RN7SL602P	CpG island
ENSG00000228262	chromatin interactions
ENSG00000147576	chromatin interactions
ENSG00000134294	chromatin interactions
ENSG00000258096	chromatin interactions
ENSG00000108443	chromatin interactions
ENSG00000188825	chromatin interactions
ENSG00000108669	chromatin interactions
ENSG00000108423	chromatin interactions
NAP1L1	miRNA target sites

Extended variants
information (count: 12505 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:12505 , 50 per page) page: 1 2 3 4 5 6 7 ... 251

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4670078	chr2:34456200-34456201	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs186491640	chr2:34456262-34456263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs4670079	chr2:34456276-34456277	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs4670341	chr2:34456291-34456292	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs570110702	chr2:34456297-34456298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs4670080	chr2:34456309-34456310	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs191474137	chr2:34456348-34456349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs535265804	chr2:34456381-34456382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs566356708	chr2:34456411-34456412	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs61055605	chr2:34456429-34456430	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs554636812	chr2:34456445-34456446	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs568443361	chr2:34456455-34456456	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs80009064	chr2:34456456-34456457	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs150793233	chr2:34456464-34456465	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs13421243	chr2:34456475-34456476	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs554407141	chr2:34456498-34456499	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs17432481	chr2:34456500-34456501	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs552781557	chr2:34456515-34456516	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs572765156	chr2:34456525-34456526	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs541744829	chr2:34456547-34456548	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs375687458	chr2:34456576-34456577	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs575205937	chr2:34456577-34456578	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs11889234	chr2:34456578-34456579	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs564209116	chr2:34456581-34456582	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs139712959	chr2:34456588-34456589	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs552791010	chr2:34456594-34456595	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs144617958	chr2:34456599-34456600	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs528747006	chr2:34456622-34456623	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs548870963	chr2:34456748-34456749	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs147865065	chr2:34456752-34456753	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs537449505	chr2:34456757-34456758	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs2888194	chr2:34456761-34456762	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs72861609	chr2:34456803-34456804	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs139989815	chr2:34456809-34456810	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs72861611	chr2:34456810-34456811	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs572705259	chr2:34456815-34456816	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs535348520	chr2:34456816-34456817	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs555626149	chr2:34456843-34456844	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs575499667	chr2:34456870-34456871	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs182843808	chr2:34456926-34456927	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs563962488	chr2:34456939-34456940	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs572466559	chr2:34456958-34456959	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs577779988	chr2:34457021-34457022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs2193804	chr2:34457059-34457060	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs200905645	chr2:34457110-34457111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs199801074	chr2:34457111-34457112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs138197028	chr2:34457112-34457113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs141813588	chr2:34457113-34457114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs72542315	chr2:34457114-34457115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs35055158	chr2:34457115-34457116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:71)

Disease	PMID	Source
Breast cancer	17393978	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
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
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Bladder cancer	21909424	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Leukemia	18628472	CNVD
Autism	19521722	CNVD
Autism	18522746	CNVD
Breast cancer	21364760	CNVD
Wilms tumour	21544195	CNVD
Non-small cell lung cancer	18927303	CNVD
Hereditary gingival fibromatosis	19633868	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21045282	CNVD
Prostate cancer	21965145	CNVD
Breast cancer	16397240	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21508638	CNVD
Neurodevelopmental disorder	22521361	CNVD
Neurocytoma	17123091	CNVD
Autism	22495309	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	22522925	CNVD
Glioma	20126413	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
early-passage human iPS cells	21368824	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Incontinentia Pigmenti	22033527	CNVD
Alcoholism	22295116	CNVD
Medulloblastoma	21163964	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:581 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:34455400-34456400	Weak transcription	Ovary	ovary
2	chr2:34455400-34460200	Weak transcription	Pancreas	Pancrea
3	chr2:34456400-34457000	Enhancers	Ovary	ovary
4	chr2:34457000-34465600	Weak transcription	Ovary	ovary
5	chr2:34460800-34463400	Weak transcription	Pancreas	Pancrea
6	chr2:34462400-34462600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
7	chr2:34463000-34463600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr2:34463600-34464000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr2:34463800-34464000	Weak transcription	Pancreas	Pancrea
10	chr2:34464000-34464200	Enhancers	Pancreas	Pancrea
11	chr2:34464000-34465000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr2:34464000-34466000	Enhancers	Fetal Brain Male	brain
13	chr2:34464200-34466400	Weak transcription	Pancreas	Pancrea
14	chr2:34464800-34465200	Enhancers	Fetal Brain Female	brain
15	chr2:34465000-34465400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr2:34465200-34466800	Weak transcription	Fetal Brain Female	brain
17	chr2:34465400-34467400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr2:34465600-34466000	Enhancers	Pancreatic Islets	Pancreatic Islet
19	chr2:34465600-34468400	Enhancers	Ovary	ovary
20	chr2:34465800-34468000	Enhancers	Fetal Kidney	kidney
21	chr2:34466000-34466400	Weak transcription	Fetal Brain Male	brain
22	chr2:34466000-34466400	Weak transcription	Pancreatic Islets	Pancreatic Islet
23	chr2:34466400-34467000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr2:34466400-34467600	Enhancers	Pancreatic Islets	Pancreatic Islet
25	chr2:34466400-34468200	Enhancers	Pancreas	Pancrea
26	chr2:34466400-34468400	Enhancers	Fetal Lung	lung
27	chr2:34466400-34468600	Enhancers	Fetal Brain Male	brain
28	chr2:34466600-34467400	Enhancers	Rectal Mucosa Donor 29	rectum
29	chr2:34466600-34468600	Enhancers	Liver	Liver
30	chr2:34466800-34467800	Enhancers	Fetal Brain Female	brain
31	chr2:34467000-34467200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
32	chr2:34467000-34467400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr2:34467000-34468200	Enhancers	Brain Germinal Matrix	brain
34	chr2:34467000-34468600	Enhancers	Fetal Intestine Large	intestine
35	chr2:34467000-34468600	Enhancers	Fetal Intestine Small	intestine
36	chr2:34467000-34468600	Enhancers	Rectal Mucosa Donor 31	rectum
37	chr2:34467200-34467400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr2:34467200-34468000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr2:34467200-34468200	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
40	chr2:34467200-34468400	Enhancers	Duodenum Mucosa	Duodenum
41	chr2:34467400-34467600	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
42	chr2:34467400-34468000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr2:34467400-34468200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr2:34467400-34475600	Weak transcription	Rectal Mucosa Donor 29	rectum
45	chr2:34467600-34469200	Weak transcription	Pancreatic Islets	Pancreatic Islet
46	chr2:34468000-34468200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
47	chr2:34468000-34468200	Enhancers	Sigmoid Colon	Sigmoid Colon
48	chr2:34468000-34468400	Flanking Active TSS	Fetal Kidney	kidney
49	chr2:34468200-34479200	Weak transcription	Pancreas	Pancrea
50	chr2:34468400-34477200	Weak transcription	Fetal Lung	lung

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