Variant report

Variant	nsv934255
Chromosome Location	chr2:51255441-51513892
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr2:51330523-51330544	HepG2	liver:	n/a	n/a
2	ATF2	chr2:51259020-51259511	H1-hESC	embryonic stem cell:	n/a	n/a
3	ATF2	chr2:51259057-51259636	H1-hESC	embryonic stem cell:	n/a	n/a
4	BACH1	chr2:51330505-51330576	H1-hESC	embryonic stem cell:	n/a	n/a
5	BATF	chr2:51439527-51439799	GM12878	blood:	n/a	chr2:51439631-51439642
6	BHLHE40	chr2:51439638-51439779	GM12878	blood:	n/a	n/a
7	BHLHE40	chr2:51330297-51330702	HepG2	liver:	n/a	n/a
8	BRCA1	chr2:51330435-51330474	H1-hESC	embryonic stem cell:	n/a	n/a
9	BRCA1	chr2:51259605-51259656	H1-hESC	embryonic stem cell:	n/a	n/a
10	CCNT2	chr2:51398751-51398851	K562	blood:	n/a	n/a
11	CEBPB	chr2:51485458-51485831	H1-hESC	embryonic stem cell:	n/a	chr2:51485628-51485645 chr2:51485631-51485642
12	CEBPB	chr2:51485456-51485813	K562	blood:	n/a	chr2:51485628-51485645 chr2:51485631-51485642
13	CEBPB	chr2:51255998-51256347	A549	lung:	n/a	chr2:51256172-51256183
14	CEBPB	chr2:51430857-51430966	H1-hESC	embryonic stem cell:	n/a	chr2:51430918-51430929
15	CEBPB	chr2:51445233-51445599	IMR90	lung:	n/a	chr2:51445408-51445419 chr2:51445407-51445420
16	CEBPB	chr2:51461638-51461868	IMR90	lung:	n/a	chr2:51461726-51461737
17	CEBPB	chr2:51461631-51461892	HepG2	liver:	n/a	chr2:51461726-51461737
18	CEBPB	chr2:51485458-51485815	A549	lung:	n/a	chr2:51485628-51485645 chr2:51485631-51485642
19	CEBPB	chr2:51376877-51377106	A549	lung:	n/a	n/a
20	CEBPB	chr2:51491236-51491509	H1-hESC	embryonic stem cell:	n/a	n/a
21	CEBPB	chr2:51496291-51496595	IMR90	lung:	n/a	n/a
22	CEBPB	chr2:51314497-51314768	A549	lung:	n/a	chr2:51314679-51314692 chr2:51314681-51314692 chr2:51314679-51314692 chr2:51314681-51314692
23	CEBPB	chr2:51256004-51256330	K562	blood:	n/a	chr2:51256172-51256183
24	CEBPB	chr2:51324687-51324910	HepG2	liver:	n/a	chr2:51324819-51324830
25	CEBPB	chr2:51335993-51336283	H1-hESC	embryonic stem cell:	n/a	chr2:51336127-51336140 chr2:51336129-51336138 chr2:51336129-51336138 chr2:51336129-51336138 chr2:51336127-51336138 chr2:51336129-51336138 chr2:51336127-51336140 chr2:51336128-51336139
26	CEBPB	chr2:51325442-51325765	IMR90	lung:	n/a	chr2:51325594-51325607
27	CEBPB	chr2:51430799-51430988	HepG2	liver:	n/a	chr2:51430918-51430929
28	CEBPB	chr2:51485548-51485789	ECC-1	luminal epithelium:	n/a	chr2:51485628-51485645 chr2:51485631-51485642
29	CEBPB	chr2:51485451-51485812	A549	lung:	n/a	chr2:51485628-51485645 chr2:51485631-51485642
30	CEBPB	chr2:51335948-51336305	HepG2	liver:	n/a	chr2:51336127-51336140 chr2:51336129-51336138 chr2:51336129-51336138 chr2:51336129-51336138 chr2:51336127-51336138 chr2:51336129-51336138 chr2:51336127-51336140 chr2:51336128-51336139
31	CEBPB	chr2:51445272-51445575	A549	lung:	n/a	chr2:51445408-51445419 chr2:51445407-51445420
32	CEBPB	chr2:51392842-51393189	H1-hESC	embryonic stem cell:	n/a	n/a
33	CEBPB	chr2:51445259-51445582	HepG2	liver:	n/a	chr2:51445408-51445419 chr2:51445407-51445420
34	CEBPB	chr2:51282756-51283052	HepG2	liver:	n/a	chr2:51282886-51282897
35	CEBPB	chr2:51255989-51256366	IMR90	lung:	n/a	chr2:51256172-51256183
36	CEBPB	chr2:51282778-51283040	IMR90	lung:	n/a	chr2:51282886-51282897
37	CEBPB	chr2:51255980-51256366	H1-hESC	embryonic stem cell:	n/a	chr2:51256172-51256183
38	CEBPB	chr2:51330315-51330732	IMR90	lung:	n/a	n/a
39	CEBPB	chr2:51335948-51336306	IMR90	lung:	n/a	chr2:51336127-51336140 chr2:51336129-51336138 chr2:51336129-51336138 chr2:51336129-51336138 chr2:51336127-51336138 chr2:51336129-51336138 chr2:51336127-51336140 chr2:51336128-51336139
40	CEBPB	chr2:51445290-51445497	H1-hESC	embryonic stem cell:	n/a	chr2:51445408-51445419 chr2:51445407-51445420
41	CEBPB	chr2:51256005-51256373	Hela-S3	cervix:	n/a	chr2:51256172-51256183
42	CEBPB	chr2:51330496-51330704	HepG2	liver:	n/a	n/a
43	CEBPB	chr2:51485449-51485821	Hela-S3	cervix:	n/a	chr2:51485628-51485645 chr2:51485631-51485642
44	CEBPB	chr2:51255964-51256336	MCF-7	breast:	n/a	chr2:51256172-51256183
45	CEBPB	chr2:51485456-51485732	ECC-1	luminal epithelium:	n/a	chr2:51485628-51485645 chr2:51485631-51485642
46	CEBPB	chr2:51328029-51328351	H1-hESC	embryonic stem cell:	n/a	n/a
47	CEBPB	chr2:51430897-51430932	A549	lung:	n/a	chr2:51430918-51430929
48	CEBPB	chr2:51256083-51256253	HepG2	liver:	n/a	chr2:51256172-51256183
49	CEBPB	chr2:51325500-51325735	H1-hESC	embryonic stem cell:	n/a	chr2:51325594-51325607
50	CEBPB	chr2:51256026-51256305	HepG2	liver:	n/a	chr2:51256172-51256183

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:51260399-51260449	SK-N-MC	brain:	n/a
2	chr2:51259703-51259753	HEEpiC	esophagus:	n/a
3	chr2:51259807-51259857	PFSK-1	brain:	n/a
4	chr2:51259693-51259743	CMK	blood:	n/a
5	chr2:51379080-51379130	HEEpiC	esophagus:	n/a
6	chr2:51255627-51255677	MCF10A-Er-Src	breast:	n/a
7	chr2:51255627-51255677	NB4	blood:	n/a
8	chr2:51259552-51259602	ECC-1	luminal epithelium:	n/a
9	chr2:51259697-51259747	HPAEpiC	pulmonary alveolar:	n/a
10	chr2:51259807-51259857	GM12878	blood:	n/a
11	chr2:51259693-51259743	GM06990	blood:	n/a
12	chr2:51260739-51260789	ProgFib	skin:	n/a
13	chr2:51259703-51259753	HRE	kidney:	n/a
14	chr2:51260399-51260449	HEK293	kidney:	embryo
15	chr2:51260399-51260449	NB4	blood:	n/a
16	chr2:51255627-51255677	HNPCEpiC	eye:	n/a
17	chr2:51255627-51255677	SAEC	small airway:	n/a
18	chr2:51378948-51378998	SAEC	small airway:	n/a
19	chr2:51260399-51260449	GM12892	blood:	n/a
20	chr2:51260739-51260789	HPAEpiC	pulmonary alveolar:	n/a
21	chr2:51259552-51259602	HUVEC	blood vessel:	n/a
22	chr2:51378948-51378998	GM06990	blood:	n/a
23	chr2:51259807-51259857	NHBE	bronchial:	n/a
24	chr2:51259703-51259753	IMR90	lung:	fetal
25	chr2:51259807-51259857	Jurkat	blood:	n/a
26	chr2:51260003-51260053	MCF10A-Er-Src	breast:	n/a
27	chr2:51259697-51259747	SK-N-MC	brain:	n/a
28	chr2:51260003-51260053	AG10803	skin:	n/a
29	chr2:51259807-51259857	PANC-1	pancreas:	n/a
30	chr2:51379080-51379130	HIPEpiC	eye:	n/a
31	chr2:51259552-51259602	NHDF-neo	bronchial:	n/a
32	chr2:51378948-51378998	Hepatocyte	liver:	n/a
33	chr2:51259697-51259747	Hepatocyte	liver:	n/a
34	chr2:51446925-51446975	AG04449	skin:	fetal
35	chr2:51255627-51255677	NHBE	bronchial:	n/a
36	chr2:51259786-51259836	NHDF-neo	bronchial:	n/a
37	chr2:51259807-51259857	AG04450	lung:	fetal
38	chr2:51259697-51259747	ovcar-3	ovarian:	n/a
39	chr2:51446925-51446975	MCF-7	breast:	n/a
40	chr2:51259786-51259836	K562	blood:	n/a
41	chr2:51259807-51259857	HEEpiC	esophagus:	n/a
42	chr2:51259693-51259743	GM12891	blood:	n/a
43	chr2:51259693-51259743	HEEpiC	esophagus:	n/a
44	chr2:51379080-51379130	AoSMC	blood vessel:	n/a
45	chr2:51259697-51259747	SK-N-SH	brain:	n/a
46	chr2:51259807-51259857	GM19239	blood:	n/a
47	chr2:51260003-51260053	U87	brain:	n/a
48	chr2:51379080-51379130	NB4	blood:	n/a
49	chr2:51260399-51260449	Hepatocyte	liver:	n/a
50	chr2:51259493-51259543	MCF-7	breast:	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:51395839..51397846-chr2:51399820..51401986,2	K562	blood:
2	chr2:51395839..51397846-chr2:51399820..51401986,2	K562	blood:
3	chr2:51437981..51439669-chr2:51441644..51443887,2	K562	blood:
4	chr2:51450784..51453564-chr2:51456226..51459190,2	MCF-7	breast:
5	chr2:51288072..51290967-chr2:232569534..232571521,2	MCF-7	breast:
6	chr2:51313706..51316467-chr2:51317325..51319738,2	K562	blood:
7	chr2:51450784..51453564-chr2:51456226..51459190,2	MCF-7	breast:
8	chr2:51437981..51439669-chr2:51441644..51443887,2	K562	blood:
9	chr2:51281367..51284227-chr2:51284549..51287538,2	K562	blood:
10	chr2:51260931..51263493-chr2:51269854..51271859,2	MCF-7	breast:
11	chr2:51260931..51263493-chr2:51269854..51271859,2	MCF-7	breast:
12	chr2:51313706..51316467-chr2:51317325..51319738,2	K562	blood:
13	chr2:51281367..51284227-chr2:51284549..51287538,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NRXN1-3	chr2:51282723-51282956	NONHSAT070652
2	lnc-CHAC2-4	chr2:51279495-51279592	ENSG00000231918.1
3	lnc-NRXN1-3	chr2:51294575-51294743	l_1833_chr2:51283578-51306188_testes
4	lnc-NRXN1-1	chr2:51429219-51429452	ENSG00000237374
5	lnc-NRXN1-3	chr2:51283633-51283791	NONHSAT070652
6	lnc-NRXN1-3	chr2:51306149-51306209	l_1833_chr2:51283578-51306188_testes
7	lnc-NRXN1-3	chr2:51302313-51302437	l_1833_chr2:51283578-51306188_testes
8	lnc-NRXN1-1	chr2:51448809-51448902	ENSG00000237374
9	lnc-NRXN1-1	chr2:51448809-51448902	ENSG00000237374
10	lnc-NRXN1-1	chr2:51430129-51430286	ENSG00000237374
11	lnc-NRXN1-1	chr2:51429219-51429452	ENSG00000237374
12	lnc-NRXN1-4	chr2:51423222-51423493	l_1834_chr2:51413303-51423493_76bGuttman_hLF
13	lnc-NRXN1-4	chr2:51413304-51413539	l_1834_chr2:51413303-51423493_76bGuttman_hLF
14	lnc-NRXN1-4	chr2:51414157-51414291	l_1834_chr2:51413303-51423493_76bGuttman_hLF
15	lnc-NRXN1-3	chr2:51283579-51283793	l_1833_chr2:51283578-51306188_testes
16	lnc-CHAC2-4	chr2:51259739-51260154	ENSG00000231918.1
17	lnc-NRXN1-3	chr2:51302314-51302406	NONHSAT070652
18	lnc-NRXN1-1	chr2:51430129-51430299	ENSG00000237374

Variant related genes	Relation type
ENSG00000231918	TF binding region
NRXN1	TF binding region
ENSG00000237374	TF binding region
ENSG00000231918	CpG island
NRXN1	CpG island
ENSG00000237374	CpG island

Extended variants
information (count: 5246 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:5246 , 50 per page) page: 1 2 3 4 5 6 7 ... 105

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs200335720	chr2:51255445-51255446	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
2	rs537003613	chr2:51255472-51255473	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
3	rs200858755	chr2:51255480-51255481	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
4	rs201690141	chr2:51255492-51255493	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
5	rs560981389	chr2:51255500-51255501	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
6	rs200201783	chr2:51255524-51255525	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
7	rs558312172	chr2:51255564-51255565	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
8	rs576870622	chr2:51255565-51255566	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
9	rs201574723	chr2:51255568-51255569	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
10	rs199671790	chr2:51255571-51255572	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
11	rs200338257	chr2:51255581-51255582	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
12	rs201472675	chr2:51255583-51255584	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
13	rs199836378	chr2:51255587-51255588	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
14	rs200728783	chr2:51255600-51255601	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
15	rs186097623	chr2:51255604-51255605	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
16	rs199620261	chr2:51255606-51255607	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
17	rs200637779	chr2:51255612-51255613	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
18	rs201853773	chr2:51255618-51255619	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
19	rs112715587	chr2:51255620-51255621	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
20	rs201073462	chr2:51255628-51255629	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	CpG island	2 gene(s)	Overlapped CNVs	n/a
21	rs201347407	chr2:51255635-51255636	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	CpG island	2 gene(s)	Overlapped CNVs	n/a
22	rs200151567	chr2:51255640-51255641	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	CpG island	2 gene(s)	Overlapped CNVs	n/a
23	rs200988069	chr2:51255643-51255644	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	CpG island	2 gene(s)	Overlapped CNVs	n/a
24	rs561200676	chr2:51255689-51255690	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
25	rs35228545	chr2:51255692-51255693	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs200250761	chr2:51255708-51255709	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
27	rs201044501	chr2:51255716-51255717	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
28	rs202170901	chr2:51255723-51255724	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
29	rs200534421	chr2:51255733-51255734	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
30	rs201423603	chr2:51255768-51255769	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
31	rs543794636	chr2:51255782-51255783	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
32	rs199560998	chr2:51255792-51255793	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
33	rs200175193	chr2:51255797-51255798	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
34	rs201466198	chr2:51255808-51255809	Strong transcription Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs199683731	chr2:51255822-51255823	Strong transcription Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs200696046	chr2:51255827-51255828	Strong transcription Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs67661616	chr2:51255832-51255833	Strong transcription Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs199764139	chr2:51255847-51255848	Strong transcription Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs200907099	chr2:51255863-51255864	Strong transcription Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
40	rs201518531	chr2:51255864-51255865	Strong transcription Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
41	rs199989417	chr2:51255865-51255866	Strong transcription Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
42	rs200410983	chr2:51255876-51255877	Strong transcription Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
43	rs201580837	chr2:51255896-51255897	Strong transcription Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
44	rs148904682	chr2:51255897-51255898	Strong transcription Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
45	rs183530834	chr2:51255909-51255910	Strong transcription Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
46	rs202154880	chr2:51255922-51255923	Strong transcription Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
47	rs200174798	chr2:51255923-51255924	Strong transcription Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
48	rs187844171	chr2:51255951-51255952	Strong transcription Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
49	rs549623880	chr2:51255952-51255953	Strong transcription Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
50	rs111695572	chr2:51255965-51255966	Strong transcription Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:99)

Disease	PMID	Source
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
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
Leukemia	18628472	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21508638	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Williams Syndrome	20824207	CNVD
Breast cancer	16272173	CNVD
Lung cancer	17297452	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Ovarian cancer	21720365	CNVD
abnormal development	18461090	CNVD
Breast cancer	21364760	CNVD
Schizophrenia	20433910	CNVD
Autism	21701786	CNVD
Attention deficit hyperactivity disorder	21324949	CNVD
Austim spectrum disorder	21302340	CNVD
Schizophrenia	20587603	CNVD
Schizophrenia	20553308	CNVD
Autism	22241247	CNVD
Myelofibrosis	22110671	CNVD
Lung adenocarcinoma	17086460	CNVD
Retinoblastoma	22278416	CNVD
Cancer	21183584	CNVD
Breast cancer	16397240	CNVD
Acute lymphoblastic leukemia	18768390	CNVD
Mental retardation	19521722	CNVD
Schizophrenia	18990708	CNVD
Schizophrenia	18940311	CNVD
Schizophrenia	19348701	CNVD
Schizophrenia	18945720	CNVD
Schizophrenia	19571808	CNVD
Prostate cancer	16573809	CNVD
Neuroticism	17667963	CNVD
Schizophrenia	19443537	CNVD
Schizophrenia	19546859	CNVD
Autism	17322880	CNVD
Lung cancer	17086460	CNVD
Chronic lymphocytic leukemia	17053054	CNVD
Hereditary non-polyposis colorectal cancer	19566914	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Basal cell lymphoma	21115979	CNVD
Cognitive impairment	21505072	CNVD
Schizophrenia	22885689	CNVD
Autism	20964600	CNVD
Schizophrenia	19521646	CNVD
Attention deficit hyperactivity disorder	22214315	CNVD
Chronic motor tic disorder	22214315	CNVD
Schizophrenia	22214315	CNVD
Mental retardation	19896112	CNVD
Schizophrenia	20967226	CNVD
Schizophrenia	17989066	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Bipolar disorder	19114987	CNVD
Bladder cancer	21909424	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Schizophrenia	23813976	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD

Chromatin state (count:533 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:51246400-51258600	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr2:51249400-51260400	Active TSS	Brain Angular Gyrus	brain
3	chr2:51251600-51255800	Weak transcription	Primary B cells from cord blood	blood
4	chr2:51252200-51255800	Enhancers	Primary neutrophils fromperipheralblood	blood
5	chr2:51252600-51258800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr2:51253400-51255600	Active TSS	Brain Cingulate Gyrus	brain
7	chr2:51253600-51257400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr2:51253600-51257400	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr2:51253800-51255600	Weak transcription	Fetal Muscle Leg	muscle
10	chr2:51253800-51257200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr2:51253800-51257400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr2:51253800-51257400	Weak transcription	Right Atrium	heart
13	chr2:51254000-51256000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr2:51254000-51257600	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr2:51254200-51256200	Transcr. at gene 5' and 3'	Brain Germinal Matrix	brain
16	chr2:51254200-51256200	Transcr. at gene 5' and 3'	Fetal Brain Female	brain
17	chr2:51254400-51255800	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr2:51254400-51255800	Weak transcription	Brain Anterior Caudate	brain
19	chr2:51254400-51256800	Enhancers	Fetal Brain Male	brain
20	chr2:51254600-51256200	Strong transcription	H1 Cell Line	embryonic stem cell
21	chr2:51254800-51255800	Weak transcription	Brain Hippocampus Middle	brain
22	chr2:51254800-51256000	Strong transcription	Pancreatic Islets	Pancreatic Islet
23	chr2:51254800-51256200	Strong transcription	HUES48 Cell Line	embryonic stem cell
24	chr2:51255000-51255600	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr2:51255200-51256000	Strong transcription	Cortex derived primary cultured neurospheres	brain
26	chr2:51255200-51256400	Enhancers	Primary monocytes fromperipheralblood	blood
27	chr2:51255200-51257400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr2:51255200-51257800	Weak transcription	Fetal Stomach	stomach
29	chr2:51255400-51255600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
30	chr2:51255400-51256200	Enhancers	Monocytes-CD14+_RO01746	blood
31	chr2:51255400-51258800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr2:51255600-51255800	Flanking Active TSS	Brain Cingulate Gyrus	brain
33	chr2:51255600-51255800	Enhancers	Brain Inferior Temporal Lobe	brain
34	chr2:51255600-51256000	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
35	chr2:51255600-51256200	Enhancers	Fetal Muscle Leg	muscle
36	chr2:51255800-51256000	Enhancers	Brain Anterior Caudate	brain
37	chr2:51255800-51256200	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr2:51255800-51256200	Flanking Active TSS	Primary B cells from cord blood	blood
39	chr2:51255800-51256200	Transcr. at gene 5' and 3'	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr2:51255800-51256200	Active TSS	Brain Cingulate Gyrus	brain
41	chr2:51255800-51256200	Active TSS	Brain Hippocampus Middle	brain
42	chr2:51255800-51256200	Active TSS	Brain Inferior Temporal Lobe	brain
43	chr2:51255800-51256400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
44	chr2:51256000-51256200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr2:51256000-51256200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr2:51256000-51256200	Genic enhancers	Cortex derived primary cultured neurospheres	brain
47	chr2:51256000-51256800	Weak transcription	Pancreatic Islets	Pancreatic Islet
48	chr2:51256000-51257000	Weak transcription	Brain Anterior Caudate	brain
49	chr2:51256000-51257800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr2:51256000-51260200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain

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