Variant report

Variant	rs778340
Chromosome Location	chr2:233734083-233734084
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:40)
CpG islands
(count:61)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:40 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RAD21	chr2:233733898-233734756	H1-hESC	embryonic stem cell:	n/a	chr2:233734560-233734574
2	MAX	chr2:233733940-233734358	H1-hESC	embryonic stem cell:	n/a	n/a
3	CTCF	chr2:233734064-233734177	NHEK	skin:	n/a	n/a
4	E2F6	chr2:233733757-233734438	H1-hESC	embryonic stem cell:	n/a	n/a
5	CTCF	chr2:233734060-233734210	HBMEC	blood vessel:	n/a	n/a
6	CTCF	chr2:233734027-233734157	GM13977	blood:	n/a	n/a
7	POLR2A	chr2:233733228-233734201	K562	blood:	n/a	n/a
8	CTCF	chr2:233733980-233734130	HepG2	liver:	n/a	n/a
9	E2F6	chr2:233733840-233734290	H1-hESC	embryonic stem cell:	n/a	n/a
10	POLR2A	chr2:233733915-233737373	HepG2	liver:	n/a	n/a
11	CTCF	chr2:233733921-233734710	H1-hESC	embryonic stem cell:	n/a	n/a
12	CTCF	chr2:233734050-233734173	HepG2	liver:	n/a	n/a
13	CTCF	chr2:233733914-233734266	H1-hESC	embryonic stem cell:	n/a	n/a
14	FOSL2	chr2:233733977-233734863	HepG2	liver:	n/a	n/a
15	CTCF	chr2:233734020-233734170	HEK293	kidney:	n/a	n/a
16	CTCF	chr2:233734060-233734210	HCPEpiC	choroid plexus:	n/a	n/a
17	RAD21	chr2:233733877-233734356	H1-hESC	embryonic stem cell:	n/a	n/a
18	CTCF	chr2:233734060-233734210	BE2_C	brain:	n/a	n/a
19	CTCF	chr2:233734036-233734190	H1-hESC	embryonic stem cell:	n/a	n/a
20	POLR2A	chr2:233733991-233734179	ProgFib	skin:	n/a	n/a
21	CTCF	chr2:233734070-233734181	GM12878	blood:	n/a	n/a
22	CTCF	chr2:233734060-233734149	K562	blood:	n/a	n/a
23	CTCF	chr2:233734040-233734190	HRE	kidney:	n/a	n/a
24	RAD21	chr2:233733940-233734691	H1-hESC	embryonic stem cell:	n/a	chr2:233734560-233734574
25	CTCF	chr2:233734075-233734133	GM12878	blood:	n/a	n/a
26	CTCF	chr2:233734075-233734121	MCF-7	breast:	n/a	n/a
27	CTCF	chr2:233734040-233734190	Caco-2	colon:	n/a	n/a
28	CTCF	chr2:233734023-233734184	GM12891	blood:	n/a	n/a
29	CTCF	chr2:233734064-233734187	GM12892	blood:	n/a	n/a
30	CTCF	chr2:233734071-233734189	K562	blood:	n/a	n/a
31	POLR2A	chr2:233733901-233734108	Hela-S3	cervix:	n/a	n/a
32	NANOG	chr2:233733972-233734250	H1-hESC	embryonic stem cell:	n/a	n/a
33	POLR2A	chr2:233733566-233734802	A549	lung:	n/a	n/a
34	E2F6	chr2:233733985-233734174	K562	blood:	n/a	n/a
35	SMC3	chr2:233734062-233734768	HepG2	liver:	n/a	n/a
36	CTCF	chr2:233734040-233734190	WERI-Rb-1	eye:	n/a	n/a
37	CTCF	chr2:233734025-233734199	GM19240	blood:	n/a	n/a
38	POLR2A	chr2:233733826-233734854	HepG2	liver:	n/a	n/a
39	CTCF	chr2:233734050-233734153	MCF-7	breast:	n/a	n/a
40	CTCF	chr2:233733997-233734180	HepG2	liver:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:233734064-233734114	GM12878	blood:	n/a
2	chr2:233734064-233734114	GM12891	blood:	n/a
3	chr2:233734064-233734114	NB4	blood:	n/a
4	chr2:233734064-233734114	T-47D	breast:	n/a
5	chr2:233734064-233734114	BJ	skin:	n/a
6	chr2:233734064-233734114	NT2-D1	testis:	n/a
7	chr2:233734064-233734114	Jurkat	blood:	n/a
8	chr2:233734064-233734114	HRCEpiC	kidney:	n/a
9	chr2:233734064-233734114	HIPEpiC	eye:	n/a
10	chr2:233734064-233734114	HepG2	liver:	n/a
11	chr2:233734064-233734114	ovcar-3	ovarian:	n/a
12	chr2:233734064-233734114	H1-hESC	embryonic stem cell:	embryo
13	chr2:233734064-233734114	HCF	heart:	n/a
14	chr2:233734064-233734114	CMK	blood:	n/a
15	chr2:233734064-233734114	SK-N-MC	brain:	n/a
16	chr2:233734064-233734114	RPTEC	kidney:	n/a
17	chr2:233734064-233734114	Hepatocyte	liver:	n/a
18	chr2:233734064-233734114	SAEC	small airway:	n/a
19	chr2:233734064-233734114	HEEpiC	esophagus:	n/a
20	chr2:233734064-233734114	NHDF-neo	bronchial:	n/a
21	chr2:233734064-233734114	HAEpiC	amniotic membrane:	n/a
22	chr2:233734064-233734114	HCM	heart:	n/a
23	chr2:233734064-233734114	AG09319	gingival:	n/a
24	chr2:233734064-233734114	U87	brain:	n/a
25	chr2:233734064-233734114	MCF10A-Er-Src	breast:	n/a
26	chr2:233734064-233734114	AG04450	lung:	fetal
27	chr2:233734064-233734114	ECC-1	luminal epithelium:	n/a
28	chr2:233734064-233734114	HCPEpiC	choroid plexus:	n/a
29	chr2:233734064-233734114	HEK293	kidney:	embryo
30	chr2:233734064-233734114	NHBE	bronchial:	n/a
31	chr2:233734064-233734114	LNCaP	prostate:	n/a
32	chr2:233734064-233734114	Caco-2	colon:	n/a
33	chr2:233734064-233734114	HMEC	breast:	n/a
34	chr2:233734064-233734114	HL-60	blood:	n/a
35	chr2:233734064-233734114	HUVEC	blood vessel:	n/a
36	chr2:233734064-233734114	GM19239	blood:	n/a
37	chr2:233734064-233734114	PFSK-1	brain:	n/a
38	chr2:233734064-233734114	IMR90	lung:	fetal
39	chr2:233734064-233734114	PANC-1	pancreas:	n/a
40	chr2:233734064-233734114	GM06990	blood:	n/a
41	chr2:233734064-233734114	BE2_C	brain:	n/a
42	chr2:233734064-233734114	NH-A	brain:	n/a
43	chr2:233734064-233734114	AoSMC	blood vessel:	n/a
44	chr2:233734064-233734114	PrEC	prostate:	n/a
45	chr2:233734064-233734114	ProgFib	skin:	n/a
46	chr2:233734064-233734114	HNPCEpiC	eye:	n/a
47	chr2:233734064-233734114	HPAEpiC	pulmonary alveolar:	n/a
48	chr2:233734064-233734114	MCF-7	breast:	n/a
49	chr2:233734064-233734114	AG09309	skin:	n/a
50	chr2:233734064-233734114	A549	lung:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:233733606..233736774-chr2:233738541..233741120,3	K562	blood:
2	chr2:233733606..233736578-chr2:233738541..233742093,3	K562	blood:

No data

Variant related genes	Relation type
C2orf82	TF binding region
C2orf82	CpG island
ENSG00000182600	Chromatin interaction

Extended variants
information (count: 93 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:85)

rs_ID	r²[population]
rs1022330	0.85[CHB][hapmap];0.85[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap]
rs10933411	0.96[ASN][1000 genomes]
rs10933412	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs11555646	0.82[ASW][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];0.83[MKK][hapmap]
rs11676216	0.94[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs11679079	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12474040	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12694917	0.96[ASN][1000 genomes]
rs12990821	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs13003675	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs13004406	0.82[ASW][hapmap];0.85[CHB][hapmap];0.85[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];0.83[MKK][hapmap];0.87[YRI][hapmap]
rs13011298	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap]
rs13013142	0.82[ASW][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];0.83[MKK][hapmap]
rs1446308	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1446310	0.85[ASN][1000 genomes]
rs1446311	0.82[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];0.90[JPT][hapmap];0.81[LWK][hapmap];0.80[MEX][hapmap];0.86[MKK][hapmap];0.95[ASN][1000 genomes]
rs1801251	0.82[ASW][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];0.84[MKK][hapmap]
rs1867778	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs1947105	0.82[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];0.81[MEX][hapmap];0.86[MKK][hapmap];0.81[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs2012221	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs2044449	0.92[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs2100053	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs2197563	0.93[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap]
rs2250654	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2250665	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2305137	0.96[ASN][1000 genomes]
rs2305141	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs2592102	0.83[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs2592113	0.85[ASN][1000 genomes]
rs2592115	0.88[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2592116	0.88[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2592117	0.88[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2592126	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2674839	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs2675957	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2675966	0.88[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2675967	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.84[LWK][hapmap];0.95[MEX][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap];0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2675971	0.94[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs2675973	0.81[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs2675974	1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.96[ASN][1000 genomes]
rs283466	0.85[ASN][1000 genomes]
rs283468	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs283469	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs283471	1.00[CHB][hapmap];0.93[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs283474	0.81[ASW][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.92[GIH][hapmap];0.95[JPT][hapmap];0.94[LWK][hapmap];0.81[MEX][hapmap];0.80[MKK][hapmap];0.95[YRI][hapmap];0.82[ASN][1000 genomes]
rs283475	1.00[CHB][hapmap];0.97[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs283476	1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.81[ASN][1000 genomes]
rs283486	0.82[ASW][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];0.84[MKK][hapmap]
rs3816334	0.81[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs3817311	0.82[ASW][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.83[MKK][hapmap]
rs4973053	0.85[ASN][1000 genomes]
rs4973054	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs4973055	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs4973056	0.95[ASN][1000 genomes]
rs4973560	0.83[ASN][1000 genomes]
rs4973561	0.85[ASN][1000 genomes]
rs6437074	0.82[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.80[LWK][hapmap];0.81[MEX][hapmap];0.86[MKK][hapmap];0.81[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs6704768	0.81[JPT][hapmap]
rs6714245	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs6717841	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6719061	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs6738386	1.00[CHB][hapmap];0.90[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.80[MEX][hapmap]
rs6745879	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6746294	1.00[CHB][hapmap];0.95[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap]
rs6747645	0.84[GIH][hapmap];0.85[JPT][hapmap]
rs6748027	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs709933	0.94[ASW][hapmap];1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];0.95[MEX][hapmap];0.84[MKK][hapmap];1.00[TSI][hapmap];0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs709934	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];0.95[MEX][hapmap];0.86[MKK][hapmap];1.00[TSI][hapmap];0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs709938	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs737028	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap]
rs7558609	0.82[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];0.81[MEX][hapmap];0.86[MKK][hapmap];0.87[ASN][1000 genomes]
rs7568385	0.81[ASN][1000 genomes]
rs7573208	0.87[ASN][1000 genomes]
rs7587309	0.89[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs7589201	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs7606090	1.00[CHB][hapmap];0.90[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap]
rs778166	0.80[ASN][1000 genomes]
rs778338	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs778339	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs778368	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs809639	0.83[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.88[YRI][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs812383	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs895430	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.95[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs9653383	0.84[ASN][1000 genomes]
rs991873	0.82[ASW][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];0.95[GIH][hapmap];0.95[JPT][hapmap];0.81[MEX][hapmap];0.86[MKK][hapmap];0.81[AFR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948470	chr2:233166262-233886732	Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	nsv1005123	chr2:233227729-233920152	Enhancers Strong transcription Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
3	nsv536173	chr2:233227729-233920152	Bivalent Enhancer Strong transcription Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
4	nsv834570	chr2:233639160-233805067	Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv1009825	chr2:233709566-233763470	Weak transcription Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv984452	chr2:233725452-233762965	Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	nsv999116	chr2:233733352-233759864	Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
8	nsv1007029	chr2:233733352-233760519	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs778340	C2orf82	cis	Temporal Cortex	GTEx
rs778340	C2orf82	cis	parietal	SCAN
rs778340	HMGB3L1	trans	parietal	SCAN
rs778340	C2orf82	cis	Frontal Cortex	GTEx
rs778340	C2orf82	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:233665800-233734200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr2:233722800-233738000	Weak transcription	Stomach Mucosa	stomach
3	chr2:233723000-233740400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr2:233723200-233736600	Weak transcription	Colonic Mucosa	Colon
5	chr2:233723200-233738600	Weak transcription	K562	blood
6	chr2:233723600-233734200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr2:233723600-233735200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr2:233723600-233736400	Weak transcription	Right Ventricle	heart
9	chr2:233723600-233736600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr2:233724000-233734600	Weak transcription	Brain Substantia Nigra	brain
11	chr2:233724000-233736000	Weak transcription	Fetal Brain Male	brain
12	chr2:233724200-233738600	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr2:233724400-233734200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr2:233724600-233734200	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr2:233724600-233738600	Weak transcription	Esophagus	oesophagus
16	chr2:233724800-233734600	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr2:233725000-233735800	Weak transcription	Fetal Thymus	thymus
18	chr2:233726000-233737400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr2:233726000-233740400	Weak transcription	HMEC	breast
20	chr2:233726200-233735000	Weak transcription	Brain Angular Gyrus	brain
21	chr2:233726200-233735600	Weak transcription	Osteobl	bone
22	chr2:233726200-233737400	Weak transcription	Fetal Brain Female	brain
23	chr2:233726400-233734400	Weak transcription	Brain Hippocampus Middle	brain
24	chr2:233726400-233735000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr2:233726400-233735000	Weak transcription	Spleen	Spleen
26	chr2:233726400-233736000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr2:233726400-233736200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr2:233726400-233736200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr2:233726400-233738200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr2:233726400-233739000	Weak transcription	Thymus	Thymus
31	chr2:233726400-233740200	Weak transcription	Primary B cells from cord blood	blood
32	chr2:233726400-233740400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr2:233726400-233740800	Weak transcription	HSMM	muscle
34	chr2:233726600-233734600	Weak transcription	Brain Cingulate Gyrus	brain
35	chr2:233726600-233734800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr2:233726600-233735800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr2:233726600-233736000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
38	chr2:233726600-233736200	Weak transcription	Primary hematopoietic stem cells	blood
39	chr2:233726600-233737800	Weak transcription	Brain Germinal Matrix	brain
40	chr2:233726600-233738200	Weak transcription	Gastric	stomach
41	chr2:233726600-233738400	Weak transcription	Primary monocytes fromperipheralblood	blood
42	chr2:233726600-233738400	Weak transcription	Placenta	Placenta
43	chr2:233726600-233738800	Weak transcription	NHLF	lung
44	chr2:233726600-233739000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr2:233726600-233739200	Weak transcription	Left Ventricle	heart
46	chr2:233726600-233739800	Weak transcription	Muscle Satellite Cultured Cells	--
47	chr2:233726600-233740000	Weak transcription	Pancreas	Pancrea
48	chr2:233726600-233740200	Weak transcription	Rectal Smooth Muscle	rectum
49	chr2:233726600-233740400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr2:233726600-233740400	Weak transcription	Lung	lung

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