Variant report

Variant	rs2289972
Chromosome Location	chr2:85766545-85766546
allele	A/G
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	SMARCB1	chr2:85764694-85767671	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr2:85764762-85767800	GM19099	blood:	n/a	n/a
3	POLR2A	chr2:85764818-85775931	U87	brain:	n/a	n/a
4	ELF1	chr2:85765597-85766981	K562	blood:	n/a	chr2:85766833-85766845 chr2:85765886-85765898 chr2:85766564-85766576
5	MXI1	chr2:85765541-85767627	Hela-S3	cervix:	n/a	chr2:85766928-85766937
6	POLR2A	chr2:85764716-85770554	GM12878	blood:	n/a	n/a
7	SIX5	chr2:85764471-85768062	A549	lung:	n/a	n/a
8	MXI1	chr2:85765848-85768858	K562	blood:	n/a	chr2:85766928-85766937
9	NFIC	chr2:85765591-85767102	ECC-1	luminal epithelium:	n/a	n/a
10	MAX	chr2:85764848-85767481	K562	blood:	n/a	chr2:85765885-85765895 chr2:85766929-85766939 chr2:85766931-85766947 chr2:85766928-85766939 chr2:85766930-85766939 chr2:85766029-85766038 chr2:85766928-85766939 chr2:85766931-85766938 chr2:85766927-85766940 chr2:85766929-85766938 chr2:85765458-85765467 chr2:85766927-85766940 chr2:85766928-85766937 chr2:85766929-85766939 chr2:85766928-85766939 chr2:85766665-85766674 chr2:85766928-85766938
11	BCLAF1	chr2:85765506-85768054	K562	blood:	n/a	chr2:85767948-85767957 chr2:85766915-85766928 chr2:85766117-85766130 chr2:85765969-85765982 chr2:85767338-85767347
12	TAF1	chr2:85765448-85766986	MCF-7	breast:	n/a	n/a
13	POLR2A	chr2:85764187-85776473	PBDE	blood:	n/a	n/a
14	ETS1	chr2:85765327-85767597	A549	lung:	n/a	chr2:85766269-85766282 chr2:85766275-85766286
15	ZNF143	chr2:85765719-85767566	K562	blood:	n/a	chr2:85766274-85766284
16	TEAD4	chr2:85765460-85766693	A549	lung:	n/a	n/a
17	TAF1	chr2:85764787-85766947	K562	blood:	n/a	n/a
18	SIN3AK20	chr2:85765634-85767507	H1-hESC	embryonic stem cell:	n/a	n/a
19	POLR2A	chr2:85764724-85767620	GM12878	blood:	n/a	n/a
20	ELF1	chr2:85765381-85767190	GM12878	blood:	n/a	chr2:85766833-85766845 chr2:85765886-85765898 chr2:85766564-85766576
21	RELA	chr2:85764766-85767240	GM15510	blood:	n/a	n/a
22	POLR2A	chr2:85764748-85775047	K562	blood:	n/a	n/a
23	MAX	chr2:85765280-85767502	ECC-1	luminal epithelium:	n/a	chr2:85765885-85765895 chr2:85766929-85766939 chr2:85766931-85766947 chr2:85766928-85766939 chr2:85766930-85766939 chr2:85766029-85766038 chr2:85766928-85766939 chr2:85766931-85766938 chr2:85766927-85766940 chr2:85766929-85766938 chr2:85765458-85765467 chr2:85766927-85766940 chr2:85766928-85766937 chr2:85766929-85766939 chr2:85766928-85766939 chr2:85766665-85766674 chr2:85766928-85766938
24	MYC	chr2:85764769-85767714	K562	blood:	n/a	chr2:85765885-85765895 chr2:85766929-85766939 chr2:85766931-85766947 chr2:85766928-85766939 chr2:85766930-85766939 chr2:85766029-85766038 chr2:85766928-85766939 chr2:85766931-85766938 chr2:85766927-85766940 chr2:85766929-85766938 chr2:85765458-85765467 chr2:85766927-85766940 chr2:85766928-85766937 chr2:85766929-85766939 chr2:85766928-85766939 chr2:85766665-85766674 chr2:85766928-85766938
25	CHD1	chr2:85764772-85767796	GM12878	blood:	n/a	chr2:85766159-85766169
26	NR2F2	chr2:85765636-85766596	K562	blood:	n/a	n/a
27	PML	chr2:85765237-85767040	K562	blood:	n/a	n/a
28	MAX	chr2:85765484-85767354	K562	blood:	n/a	chr2:85765885-85765895 chr2:85766929-85766939 chr2:85766931-85766947 chr2:85766928-85766939 chr2:85766930-85766939 chr2:85766029-85766038 chr2:85766928-85766939 chr2:85766931-85766938 chr2:85766927-85766940 chr2:85766929-85766938 chr2:85766927-85766940 chr2:85766928-85766937 chr2:85766929-85766939 chr2:85766928-85766939 chr2:85766665-85766674 chr2:85766928-85766938
29	MAX	chr2:85764529-85767926	A549	lung:	n/a	chr2:85765885-85765895 chr2:85766929-85766939 chr2:85766931-85766947 chr2:85766928-85766939 chr2:85766930-85766939 chr2:85766029-85766038 chr2:85766928-85766939 chr2:85766931-85766938 chr2:85766927-85766940 chr2:85766929-85766938 chr2:85765458-85765467 chr2:85766927-85766940 chr2:85766928-85766937 chr2:85766929-85766939 chr2:85766928-85766939 chr2:85766665-85766674 chr2:85766928-85766938
30	SIN3AK20	chr2:85764700-85767781	MCF-7	breast:	n/a	n/a
31	ZNF143	chr2:85765621-85767083	GM12878	blood:	n/a	chr2:85766274-85766284
32	BACH1	chr2:85764731-85767050	H1-hESC	embryonic stem cell:	n/a	n/a
33	POLR2A	chr2:85764700-85767728	GM12891	blood:	n/a	n/a
34	ELF1	chr2:85765662-85766956	K562	blood:	n/a	chr2:85766833-85766845 chr2:85765886-85765898 chr2:85766564-85766576
35	POLR2A	chr2:85765419-85767105	MCF-7	breast:	n/a	n/a
36	POLR2A	chr2:85764667-85767840	HepG2	liver:	n/a	n/a
37	POLR2A	chr2:85765473-85766862	A549	lung:	n/a	n/a
38	MYC	chr2:85764889-85767689	MCF10A-Er-Src	breast:	n/a	chr2:85765885-85765895 chr2:85766929-85766939 chr2:85766931-85766947 chr2:85766928-85766939 chr2:85766930-85766939 chr2:85766029-85766038 chr2:85766928-85766939 chr2:85766931-85766938 chr2:85766927-85766940 chr2:85766929-85766938 chr2:85765458-85765467 chr2:85766927-85766940 chr2:85766928-85766937 chr2:85766929-85766939 chr2:85766928-85766939 chr2:85766665-85766674 chr2:85766928-85766938
39	PAX5	chr2:85765571-85767108	GM12878	blood:	n/a	chr2:85766902-85766911 chr2:85766125-85766134
40	CCNT2	chr2:85765603-85767826	K562	blood:	n/a	chr2:85767005-85767014 chr2:85766179-85766188
41	CREB1	chr2:85765762-85767116	H1-hESC	embryonic stem cell:	n/a	n/a
42	POLR2A	chr2:85764704-85767819	GM18505	blood:	n/a	n/a
43	POLR2A	chr2:85765282-85767893	ECC-1	luminal epithelium:	n/a	n/a
44	IRF4	chr2:85765671-85766600	GM12878	blood:	n/a	n/a
45	POLR2A	chr2:85764404-85775965	GM12878	blood:	n/a	n/a
46	MYC	chr2:85764747-85767611	NB4	blood:	n/a	chr2:85765885-85765895 chr2:85766929-85766939 chr2:85766931-85766947 chr2:85766928-85766939 chr2:85766930-85766939 chr2:85766029-85766038 chr2:85766928-85766939 chr2:85766931-85766938 chr2:85766927-85766940 chr2:85766929-85766938 chr2:85765458-85765467 chr2:85766927-85766940 chr2:85766928-85766937 chr2:85766929-85766939 chr2:85766928-85766939 chr2:85766665-85766674 chr2:85766928-85766938
47	POLR2A	chr2:85764751-85767227	GM15510	blood:	n/a	n/a
48	POLR2A	chr2:85764647-85767716	K562	blood:	n/a	n/a
49	POLR2A	chr2:85765474-85767109	Gliobla	brain:	n/a	n/a
50	SIN3A	chr2:85765525-85767434	GM12878	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:85766511-85766561	AG04450	lung:	fetal
2	chr2:85766511-85766561	PFSK-1	brain:	n/a
3	chr2:85766511-85766561	K562	blood:	n/a
4	chr2:85766511-85766561	HRCEpiC	kidney:	n/a
5	chr2:85766511-85766561	GM19239	blood:	n/a
6	chr2:85766511-85766561	HIPEpiC	eye:	n/a
7	chr2:85766511-85766561	HMEC	breast:	n/a
8	chr2:85766511-85766561	HRE	kidney:	n/a
9	chr2:85766511-85766561	SKMC	muscle:	n/a
10	chr2:85766511-85766561	SK-N-MC	brain:	n/a
11	chr2:85766511-85766561	MCF10A-Er-Src	breast:	n/a
12	chr2:85766511-85766561	HepG2	liver:	n/a
13	chr2:85766511-85766561	AG10803	skin:	n/a
14	chr2:85766511-85766561	NHBE	bronchial:	n/a
15	chr2:85766511-85766561	SK-N-SH	brain:	n/a
16	chr2:85766511-85766561	AG09319	gingival:	n/a
17	chr2:85766511-85766561	HL-60	blood:	n/a
18	chr2:85766511-85766561	ECC-1	luminal epithelium:	n/a
19	chr2:85766511-85766561	A549	lung:	n/a
20	chr2:85766511-85766561	HCPEpiC	choroid plexus:	n/a
21	chr2:85766511-85766561	SAEC	small airway:	n/a
22	chr2:85766511-85766561	GM12892	blood:	n/a
23	chr2:85766511-85766561	HPAEpiC	pulmonary alveolar:	n/a
24	chr2:85766511-85766561	ProgFib	skin:	n/a
25	chr2:85766511-85766561	MCF-7	breast:	n/a
26	chr2:85766511-85766561	GM12891	blood:	n/a
27	chr2:85766511-85766561	HCF	heart:	n/a
28	chr2:85766511-85766561	HEK293	kidney:	embryo
29	chr2:85766511-85766561	CMK	blood:	n/a
30	chr2:85766511-85766561	HUVEC	blood vessel:	n/a
31	chr2:85766511-85766561	PrEC	prostate:	n/a
32	chr2:85766511-85766561	LNCaP	prostate:	n/a
33	chr2:85766511-85766561	NHDF-neo	bronchial:	n/a
34	chr2:85766511-85766561	PANC-1	pancreas:	n/a
35	chr2:85766511-85766561	NB4	blood:	n/a
36	chr2:85766511-85766561	Hela-S3	cervix:	n/a
37	chr2:85766511-85766561	HCT-116	colon:	n/a
38	chr2:85766511-85766561	HAEpiC	amniotic membrane:	n/a
39	chr2:85766511-85766561	HCM	heart:	n/a
40	chr2:85766511-85766561	GM06990	blood:	n/a
41	chr2:85766511-85766561	Hepatocyte	liver:	n/a
42	chr2:85766511-85766561	AoSMC	blood vessel:	n/a
43	chr2:85766511-85766561	BJ	skin:	n/a
44	chr2:85766511-85766561	HNPCEpiC	eye:	n/a
45	chr2:85766511-85766561	NT2-D1	testis:	n/a
46	chr2:85766511-85766561	H1-hESC	embryonic stem cell:	embryo
47	chr2:85766511-85766561	GM12878	blood:	n/a
48	chr2:85766511-85766561	NH-A	brain:	n/a
49	chr2:85766511-85766561	T-47D	breast:	n/a
50	chr2:85766511-85766561	HRPEpiC	eye:	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:85766106..85766752-chr7:112090730..112091594,2	NB4	blood:
2	chr1:84971619..84972363-chr2:85765880..85766611,2	HCT-116	colon:
3	chr2:85765572..85767946-chr2:85820164..85824365,5	MCF-7	breast:
4	chr2:85766161..85766888-chr7:73587932..73588863,2	NB4	blood:
5	chr2:85594968..85598599-chr2:85764725..85768388,5	K562	blood:
6	chr2:85551217..85557082-chr2:85763566..85768403,18	K562	blood:
7	chr2:85579454..85586122-chr2:85763967..85769855,18	K562	blood:
8	chr2:85644216..85654950-chr2:85758513..85769717,70	MCF-7	breast:
9	chr2:85765143..85767907-chr2:85841259..85844982,5	MCF-7	breast:
10	chr2:85764946..85769175-chr2:85814893..85818821,4	K562	blood:
11	chr2:85648377..85649296-chr2:85766149..85767003,3	MCF-7	breast:
12	chr2:85764595..85768669-chr2:85824476..85831716,9	MCF-7	breast:
13	chr2:85765231..85769518-chr2:85784806..85790228,6	MCF-7	breast:
14	chr2:85766023..85766667-chr3:197518110..197518713,2	Hela-S3	cervix:
15	chr2:85765276..85767700-chr2:85863355..85867135,3	MCF-7	breast:
16	chr2:85765926..85766800-chr21:36260452..36261272,2	Hela-S3	cervix:
17	chr1:178995001..178995511-chr2:85766102..85766908,2	Hela-S3	cervix:
18	chr17:7464699..7465645-chr2:85765924..85766715,2	HCT-116	colon:
19	chr2:85766238..85766822-chr5:43121190..43121982,2	Hela-S3	cervix:
20	chr2:85766170..85766690-chr20:52209947..52210596,2	MCF-7	breast:
21	chr2:85766025..85766801-chr7:158621817..158622692,2	Hela-S3	cervix:
22	chr1:37939623..37940472-chr2:85765740..85766753,3	Hela-S3	cervix:
23	chr2:85764842..85767974-chr2:85803132..85805827,5	MCF-7	breast:
24	chr2:85571438..85573879-chr2:85765048..85766873,2	K562	blood:
25	chr1:46598049..46598702-chr2:85766088..85767062,2	Hela-S3	cervix:
26	chr14:67878492..67879251-chr2:85765787..85766682,2	Hela-S3	cervix:
27	chr17:77782933..77785635-chr2:85764990..85767788,2	K562	blood:
28	chr2:85765237..85769549-chr2:85821409..85826975,10	K562	blood:
29	chr2:85766179..85766731-chr3:101293054..101293595,2	Hela-S3	cervix:
30	chr2:85579256..85583791-chr2:85762380..85768080,8	MCF-7	breast:
31	chr2:85639277..85641952-chr2:85764715..85768056,5	MCF-7	breast:
32	chr2:85764353..85768297-chr2:85801597..85805697,4	K562	blood:
33	chr1:200378939..200379876-chr2:85766139..85766655,2	Hela-S3	cervix:
34	chr2:85549396..85557177-chr2:85763484..85769653,16	MCF-7	breast:
35	chr14:71787414..71788237-chr2:85766306..85767247,2	Hela-S3	cervix:
36	chr2:85766210..85766863-chr21:43934227..43935043,2	Hela-S3	cervix:
37	chr2:85766183..85766775-chr4:120133586..120134218,2	Hela-S3	cervix:
38	chr12:133563051..133563690-chr2:85765986..85766839,2	Hela-S3	cervix:
39	chr11:61734687..61735291-chr2:85766171..85766785,2	NB4	blood:
40	chr2:85616263..85635094-chr2:85763849..85770697,56	MCF-7	breast:
41	chr2:85593223..85597895-chr2:85762999..85767407,5	K562	blood:
42	chr2:85764979..85767733-chr6:26155953..26157777,2	MCF-7	breast:
43	chr15:93443207..93444030-chr2:85766248..85766835,2	Hela-S3	cervix:
44	chr19:1406816..1407715-chr2:85766312..85767043,2	HCT-116	colon:
45	chr2:85635544..85709381-chr2:85757395..85791508,633	K562	blood:
46	chr11:111749616..111750322-chr2:85766236..85767074,2	NB4	blood:
47	chr2:85764018..85768553-chr2:85822883..85829718,12	MCF-7	breast:
48	chr17:62502292..62503222-chr2:85766150..85766739,2	Hela-S3	cervix:
49	chr2:85764186..85766717-chr9:131486656..131488978,2	MCF-7	breast:
50	chr2:85525647..85527458-chr2:85764412..85766589,2	K562	blood:

Variant related genes	Relation type
MAT2A	TF binding region
MAT2A	CpG island
ENSG00000143933	Chromatin interaction
ENSG00000168887	Chromatin interaction
ENSG00000137720	Chromatin interaction
ENSG00000186854	Chromatin interaction
ENSG00000109381	Chromatin interaction
ENSG00000115486	Chromatin interaction
ENSG00000115875	Chromatin interaction
ENSG00000197555	Chromatin interaction
ENSG00000152291	Chromatin interaction
ENSG00000152284	Chromatin interaction
ENSG00000237649	Chromatin interaction
ENSG00000145743	Chromatin interaction
ENSG00000170345	Chromatin interaction
ENSG00000117868	Chromatin interaction
ENSG00000074755	Chromatin interaction
ENSG00000015285	Chromatin interaction
ENSG00000244399	Chromatin interaction
ENSG00000042493	Chromatin interaction
ENSG00000171940	Chromatin interaction
ENSG00000100558	Chromatin interaction
ENSG00000242095	Chromatin interaction
ENSG00000273196	Chromatin interaction
ENSG00000252293	Chromatin interaction
ENSG00000119383	Chromatin interaction
ENSG00000106682	Chromatin interaction
ENSG00000168890	Chromatin interaction
ENSG00000167740	Chromatin interaction
ENSG00000176407	Chromatin interaction
ENSG00000186001	Chromatin interaction
ENSG00000006652	Chromatin interaction
ENSG00000163874	Chromatin interaction
ENSG00000040487	Chromatin interaction
ENSG00000064666	Chromatin interaction
ENSG00000198393	Chromatin interaction
ENSG00000034510	Chromatin interaction
ENSG00000272888	Chromatin interaction
ENSG00000172262	Chromatin interaction
ENSG00000258529	Chromatin interaction
ENSG00000129128	Chromatin interaction
ENSG00000081154	Chromatin interaction
ENSG00000271014	Chromatin interaction
ENSG00000215271	Chromatin interaction
ENSG00000237773	Chromatin interaction
ENSG00000162702	Chromatin interaction
ENSG00000255561	Chromatin interaction
ENSG00000114316	Chromatin interaction
ENSG00000108654	Chromatin interaction
ENSG00000160190	Chromatin interaction
ENSG00000212195	Chromatin interaction
ENSG00000168883	Chromatin interaction
ENSG00000042445	Chromatin interaction
ENSG00000215417	Chromatin interaction
ENSG00000173838	Chromatin interaction
ENSG00000071626	Chromatin interaction
ENSG00000202382	Chromatin interaction
ENSG00000117461	Chromatin interaction
ENSG00000164924	Chromatin interaction
ENSG00000159216	Chromatin interaction
ENSG00000122432	Chromatin interaction
ENSG00000168894	Chromatin interaction
ENSG00000161956	Chromatin interaction
ENSG00000113558	Chromatin interaction
ENSG00000221579	Chromatin interaction
ENSG00000115459	Chromatin interaction
ENSG00000095321	Chromatin interaction
ENSG00000184678	Chromatin interaction
ENSG00000207207	Chromatin interaction
ENSG00000168899	Chromatin interaction
ENSG00000152292	Chromatin interaction
ENSG00000167996	Chromatin interaction
ENSG00000178636	Chromatin interaction
ENSG00000153487	Chromatin interaction
ENSG00000238331	Chromatin interaction
ENSG00000111716	Chromatin interaction
ENSG00000233621	Chromatin interaction
ENSG00000145390	Chromatin interaction
ENSG00000118640	Chromatin interaction
ENSG00000258890	Chromatin interaction
ENSG00000106546	Chromatin interaction
ENSG00000152147	Chromatin interaction
ENSG00000099860	Chromatin interaction
ENSG00000199936	Chromatin interaction
ENSG00000116199	Chromatin interaction
ENSG00000103064	Chromatin interaction
ENSG00000173575	Chromatin interaction
ENSG00000105372	Chromatin interaction
ENSG00000100796	Chromatin interaction
ENSG00000222724	Chromatin interaction
ENSG00000174021	Chromatin interaction
ENSG00000053371	Chromatin interaction
ENSG00000168298	Chromatin interaction
ENSG00000162695	Chromatin interaction
ENSG00000154839	Chromatin interaction
ENSG00000223478	Chromatin interaction
ENSG00000137806	Chromatin interaction
ENSG00000266536	Chromatin interaction

Extended variants
information (count: 54 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs1009	0.86[CHB][hapmap]
rs1010	0.85[CHB][hapmap]
rs10179195	0.95[CHB][hapmap]
rs10187424	0.86[CHB][hapmap]
rs10198569	0.86[CHB][hapmap]
rs10206961	0.86[CHB][hapmap]
rs1058588	0.86[CHB][hapmap]
rs1078004	0.86[CHB][hapmap];0.80[ASN][1000 genomes]
rs11126995	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11895341	0.89[AFR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11895399	0.93[AFR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11895401	0.93[AFR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12473819	0.80[ASN][1000 genomes]
rs12615553	0.86[ASN][1000 genomes]
rs1348818	0.86[CHB][hapmap]
rs1446669	1.00[ASW][hapmap];0.87[CEU][hapmap];0.95[CHB][hapmap];0.95[GIH][hapmap];0.95[LWK][hapmap];0.86[TSI][hapmap];0.96[YRI][hapmap];0.98[AFR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1561198	0.86[CHB][hapmap]
rs17026396	0.90[CHB][hapmap]
rs2028898	0.93[ASW][hapmap];0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];0.92[TSI][hapmap];0.96[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2028900	0.86[CHB][hapmap];0.80[ASN][1000 genomes]
rs2043675	1.00[ASW][hapmap];0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];0.92[TSI][hapmap];0.96[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2044474	0.90[CHB][hapmap]
rs2592551	0.93[ASW][hapmap];0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.91[LWK][hapmap];0.94[MEX][hapmap];0.95[TSI][hapmap];0.96[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3731828	0.93[ASW][hapmap];0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.89[LWK][hapmap];1.00[MEX][hapmap];0.92[TSI][hapmap];0.96[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3755008	0.94[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3755015	0.90[CHB][hapmap]
rs3770098	0.86[CHB][hapmap]
rs55692129	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs56819945	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs58307667	0.83[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs58644336	0.89[ASN][1000 genomes]
rs58768785	0.86[ASN][1000 genomes]
rs60012532	0.89[AFR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs60788310	0.80[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs6547621	0.86[CHB][hapmap];0.80[ASN][1000 genomes]
rs6547622	0.91[AMR][1000 genomes];0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6705971	0.90[CHB][hapmap]
rs6722691	0.95[AFR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6731700	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6735663	0.90[ASN][1000 genomes]
rs6738645	0.86[CHB][hapmap]
rs6757263	0.86[CHB][hapmap]
rs67988001	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs699664	1.00[CHB][hapmap];0.80[GIH][hapmap];1.00[ASN][1000 genomes]
rs72643495	0.94[ASN][1000 genomes]
rs73943244	0.85[ASN][1000 genomes]
rs7568458	0.86[CHB][hapmap]
rs7579147	0.82[CEU][hapmap];1.00[CHB][hapmap];0.96[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7593969	0.93[ASW][hapmap];0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.87[LWK][hapmap];1.00[MEX][hapmap];0.92[TSI][hapmap];0.96[YRI][hapmap];0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7605975	0.80[ASN][1000 genomes]
rs7608074	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs762684	0.87[CEU][hapmap];1.00[CHB][hapmap];0.96[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1005351	chr2:85242657-85774909	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	198 gene(s)	inside rSNPs	diseases
2	nsv535803	chr2:85242657-85774909	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	198 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2289972	VAMP8	cis	multi-tissue	Pritchard
rs2289972	VAMP8	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:85763600-85767000	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr2:85764000-85767600	Active TSS	Psoas Muscle	Psoas
3	chr2:85764200-85768600	Active TSS	iPS-15b Cell Line	embryonic stem cell
4	chr2:85764400-85767000	Active TSS	K562	blood
5	chr2:85764400-85767600	Active TSS	NHDF-Ad	bronchial
6	chr2:85764600-85766800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr2:85764600-85767000	Active TSS	H9 Cell Line	embryonic stem cell
8	chr2:85764600-85767000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr2:85764600-85767000	Active TSS	Brain Anterior Caudate	brain
10	chr2:85764600-85767200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr2:85764600-85767200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr2:85764600-85768200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
13	chr2:85764600-85768200	Flanking Active TSS	Primary hematopoietic stem cells	blood
14	chr2:85764600-85768200	Active TSS	Brain Angular Gyrus	brain
15	chr2:85764600-85768200	Active TSS	Fetal Stomach	stomach
16	chr2:85764600-85768600	Active TSS	Aorta	Aorta
17	chr2:85764800-85766800	Active TSS	A549	lung
18	chr2:85764800-85767000	Active TSS	HUES64 Cell Line	embryonic stem cell
19	chr2:85764800-85767000	Active TSS	iPS-20b Cell Line	embryonic stem cell
20	chr2:85764800-85767200	Transcr. at gene 5' and 3'	Right Atrium	heart
21	chr2:85764800-85767400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr2:85764800-85767400	Active TSS	HUES48 Cell Line	embryonic stem cell
23	chr2:85764800-85767400	Active TSS	Placenta Amnion	Placenta Amnion
24	chr2:85764800-85767600	Active TSS	Spleen	Spleen
25	chr2:85764800-85767800	Active TSS	Pancreatic Islets	Pancreatic Islet
26	chr2:85764800-85768000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr2:85764800-85768000	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
28	chr2:85764800-85768000	Active TSS	Sigmoid Colon	Sigmoid Colon
29	chr2:85764800-85768200	Active TSS	Lung	lung
30	chr2:85764800-85768400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr2:85764800-85768400	Active TSS	Ovary	ovary
32	chr2:85764800-85768600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
33	chr2:85764800-85768600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr2:85764800-85768600	Active TSS	Pancreas	Pancrea
35	chr2:85764800-85769200	Active TSS	Right Ventricle	heart
36	chr2:85765000-85767000	Active TSS	H1 Cell Line	embryonic stem cell
37	chr2:85765000-85767000	Active TSS	Primary T helper naive cells from peripheral blood	blood
38	chr2:85765000-85767000	Active TSS	Brain Hippocampus Middle	brain
39	chr2:85765000-85767000	Active TSS	Rectal Mucosa Donor 29	rectum
40	chr2:85765000-85767000	Active TSS	HSMM	muscle
41	chr2:85765000-85767200	Active TSS	iPS-18 Cell Line	embryonic stem cell
42	chr2:85765000-85767200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr2:85765000-85767200	Active TSS	Colon Smooth Muscle	Colon
44	chr2:85765000-85767200	Active TSS	Rectal Mucosa Donor 31	rectum
45	chr2:85765000-85767200	Active TSS	Thymus	Thymus
46	chr2:85765000-85767200	Active TSS	Hela-S3	cervix
47	chr2:85765000-85767400	Active TSS	Duodenum Smooth Muscle	Duodenum
48	chr2:85765000-85767400	Active TSS	GM12878-XiMat	blood
49	chr2:85765000-85767800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr2:85765000-85767800	Active TSS	Brain Substantia Nigra	brain

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