Variant report

Variant	rs66808088
Chromosome Location	chr8:87521212-87521213
allele	C/T
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	POLR2A	chr8:87520647-87521337	HCT-116	colon:	n/a	n/a
2	ZNF384	chr8:87520390-87521363	K562	blood:	n/a	n/a
3	MXI1	chr8:87520160-87521531	Hela-S3	cervix:	n/a	n/a
4	RELA	chr8:87520143-87521319	GM19193	blood:	n/a	n/a
5	NFYB	chr8:87520699-87521228	K562	blood:	n/a	chr8:87521041-87521056
6	FOXM1	chr8:87520059-87521238	GM12878	blood:	n/a	n/a
7	POLR2A	chr8:87520160-87521529	K562	blood:	n/a	n/a
8	HCFC1	chr8:87520075-87521517	Hela-S3	cervix:	n/a	n/a
9	HDAC2	chr8:87520085-87521417	MCF-7	breast:	n/a	n/a
10	GTF2F1	chr8:87520348-87521279	H1-hESC	embryonic stem cell:	n/a	chr8:87520359-87520370
11	GABPA	chr8:87520296-87521325	A549	lung:	n/a	chr8:87521067-87521081 chr8:87520899-87520908 chr8:87520939-87520948
12	YY1	chr8:87520427-87521296	H1-hESC	embryonic stem cell:	n/a	n/a
13	JUND	chr8:87519797-87521508	K562	blood:	n/a	chr8:87520898-87520907
14	SP1	chr8:87520214-87521349	A549	lung:	n/a	chr8:87520945-87520956 chr8:87520898-87520910 chr8:87520968-87520979 chr8:87520900-87520909 chr8:87521025-87521036 chr8:87520898-87520910 chr8:87520363-87520370 chr8:87520991-87521002
15	CTCF	chr8:87520988-87521225	GM10266	blood:	n/a	n/a
16	POLR2A	chr8:87520161-87521302	MCF-7	breast:	n/a	n/a
17	IRF1	chr8:87519931-87521496	K562	blood:	n/a	chr8:87521189-87521199 chr8:87520684-87520693 chr8:87521185-87521199 chr8:87520096-87520107
18	E2F6	chr8:87520602-87521222	K562	blood:	n/a	chr8:87521071-87521080 chr8:87520939-87520948 chr8:87520899-87520908 chr8:87521027-87521038
19	POLR2A	chr8:87520144-87521229	GM12891	blood:	n/a	n/a
20	SIN3AK20	chr8:87519881-87521582	MCF-7	breast:	n/a	n/a
21	RAD21	chr8:87520192-87521238	IMR90	lung:	n/a	n/a
22	NR2F2	chr8:87520155-87521239	K562	blood:	n/a	n/a
23	CTCF	chr8:87521080-87521230	GM12869	blood:	n/a	n/a
24	CEBPB	chr8:87521087-87521457	H1-hESC	embryonic stem cell:	n/a	n/a
25	ZNF143	chr8:87520306-87521491	K562	blood:	n/a	n/a
26	POLR2A	chr8:87520110-87521323	Raji	blood:	n/a	n/a
27	BCLAF1	chr8:87520045-87521274	GM12878	blood:	n/a	chr8:87521189-87521198
28	SP1	chr8:87520884-87521256	GM12878	blood:	n/a	chr8:87520945-87520956 chr8:87520898-87520910 chr8:87520968-87520979 chr8:87520900-87520909 chr8:87521025-87521036 chr8:87520898-87520910 chr8:87520991-87521002
29	MXI1	chr8:87520034-87521488	GM12878	blood:	n/a	n/a
30	CTCF	chr8:87521100-87521250	A549	lung:	n/a	n/a
31	CHD2	chr8:87520147-87521309	GM12878	blood:	n/a	n/a
32	TAF1	chr8:87520273-87521311	ECC-1	luminal epithelium:	n/a	n/a
33	TAF1	chr8:87520296-87521216	K562	blood:	n/a	n/a
34	MAZ	chr8:87520546-87521492	HepG2	liver:	n/a	n/a
35	RCOR1	chr8:87520307-87521272	HepG2	liver:	n/a	n/a
36	REST	chr8:87520315-87521350	A549	lung:	n/a	chr8:87520702-87520716 chr8:87520378-87520385 chr8:87520565-87520578
37	YY1	chr8:87520180-87521235	GM12878	blood:	n/a	n/a
38	MYC	chr8:87520788-87521228	H1-hESC	embryonic stem cell:	n/a	n/a
39	TBP	chr8:87520237-87521422	GM12878	blood:	n/a	chr8:87520359-87520370
40	POLR2A	chr8:87520385-87521232	Gliobla	brain:	n/a	n/a
41	PAX5	chr8:87520664-87521219	GM12878	blood:	n/a	chr8:87521189-87521198
42	CTCF	chr8:87520999-87521212	Lung_OC	lung:	n/a	n/a
43	YY1	chr8:87520288-87521301	SK-N-SH	brain:	n/a	n/a
44	TAF1	chr8:87520371-87521232	ECC-1	luminal epithelium:	n/a	n/a
45	MAZ	chr8:87520248-87521312	K562	blood:	n/a	chr8:87520494-87520503
46	IRF1	chr8:87520109-87521640	K562	blood:	n/a	chr8:87521515-87521525 chr8:87521189-87521199 chr8:87521517-87521531 chr8:87521513-87521533 chr8:87520684-87520693 chr8:87521185-87521199 chr8:87521515-87521529
47	POLR2A	chr8:87520099-87521228	GM12891	blood:	n/a	n/a
48	POLR2A	chr8:87520242-87521271	GM10847	blood:	n/a	n/a
49	CTCF	chr8:87520978-87521226	Gliobla	brain:	n/a	n/a
50	POLR2A	chr8:87519805-87521867	GM12878	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:87521202-87521252	PANC-1	pancreas:	n/a
2	chr8:87521202-87521252	SK-N-SH	brain:	n/a
3	chr8:87521202-87521252	HCF	heart:	n/a
4	chr8:87521202-87521252	K562	blood:	n/a
5	chr8:87521180-87521230	HRE	kidney:	n/a
6	chr8:87521177-87521227	SK-N-MC	brain:	n/a
7	chr8:87521180-87521230	U87	brain:	n/a
8	chr8:87521177-87521227	RPTEC	kidney:	n/a
9	chr8:87521180-87521230	HMEC	breast:	n/a
10	chr8:87521180-87521230	AoSMC	blood vessel:	n/a
11	chr8:87521180-87521230	MCF10A-Er-Src	breast:	n/a
12	chr8:87521177-87521227	Hela-S3	cervix:	n/a
13	chr8:87521180-87521230	PANC-1	pancreas:	n/a
14	chr8:87521202-87521252	A549	lung:	n/a
15	chr8:87521202-87521252	BE2_C	brain:	n/a
16	chr8:87521180-87521230	SAEC	small airway:	n/a
17	chr8:87521180-87521230	GM12892	blood:	n/a
18	chr8:87521180-87521230	HUVEC	blood vessel:	n/a
19	chr8:87521202-87521252	ECC-1	luminal epithelium:	n/a
20	chr8:87521177-87521227	GM06990	blood:	n/a
21	chr8:87521177-87521227	HCPEpiC	choroid plexus:	n/a
22	chr8:87521202-87521252	NHBE	bronchial:	n/a
23	chr8:87521177-87521227	AG04449	skin:	fetal
24	chr8:87521202-87521252	HUVEC	blood vessel:	n/a
25	chr8:87521177-87521227	U87	brain:	n/a
26	chr8:87521177-87521227	HMEC	breast:	n/a
27	chr8:87521177-87521227	HL-60	blood:	n/a
28	chr8:87521177-87521227	BE2_C	brain:	n/a
29	chr8:87521202-87521252	HEEpiC	esophagus:	n/a
30	chr8:87521202-87521252	AoSMC	blood vessel:	n/a
31	chr8:87521180-87521230	HEEpiC	esophagus:	n/a
32	chr8:87521180-87521230	HRPEpiC	eye:	n/a
33	chr8:87521177-87521227	HepG2	liver:	n/a
34	chr8:87521202-87521252	NHDF-neo	bronchial:	n/a
35	chr8:87521180-87521230	Hepatocyte	liver:	n/a
36	chr8:87521180-87521230	HNPCEpiC	eye:	n/a
37	chr8:87521202-87521252	AG09319	gingival:	n/a
38	chr8:87521180-87521230	HAEpiC	amniotic membrane:	n/a
39	chr8:87521180-87521230	HCF	heart:	n/a
40	chr8:87521177-87521227	AG10803	skin:	n/a
41	chr8:87521177-87521227	Jurkat	blood:	n/a
42	chr8:87521180-87521230	H1-hESC	embryonic stem cell:	embryo
43	chr8:87521180-87521230	NT2-D1	testis:	n/a
44	chr8:87521177-87521227	A549	lung:	n/a
45	chr8:87521202-87521252	HCT-116	colon:	n/a
46	chr8:87521202-87521252	HRCEpiC	kidney:	n/a
47	chr8:87521180-87521230	Hela-S3	cervix:	n/a
48	chr8:87521202-87521252	HNPCEpiC	eye:	n/a
49	chr8:87521180-87521230	T-47D	breast:	n/a
50	chr8:87521180-87521230	AG04450	lung:	fetal

No.	Distal block	Cell Line	Cell type
1	chr11:61101688..61103603-chr8:87519693..87522551,2	MCF-7	breast:
2	chr8:87487270..87490849-chr8:87519324..87522121,4	K562	blood:
3	chr8:87355027..87357482-chr8:87519258..87521837,2	K562	blood:
4	chr8:87486012..87489459-chr8:87519417..87522118,5	MCF-7	breast:
5	chr17:56735220..56736743-chr8:87519263..87521949,2	MCF-7	breast:
6	chr8:87518953..87524236-chr8:87524519..87528376,7	K562	blood:
7	chr5:102455660..102456623-chr8:87520592..87521214,2	Hela-S3	cervix:
8	chr8:87492324..87497991-chr8:87518822..87522169,6	MCF-7	breast:
9	chr8:87520361..87521228-chr9:140472867..140473630,2	HCT-116	colon:
10	chr8:87495583..87497504-chr8:87520238..87522113,2	K562	blood:
11	chr8:87498873..87500941-chr8:87519267..87521705,2	K562	blood:
12	chr8:87519046..87522405-chr8:87523698..87528376,9	K562	blood:
13	chr8:87488182..87492141-chr8:87519043..87522163,5	K562	blood:

Variant related genes	Relation type
RMDN1	TF binding region
RMDN1	CpG island
ENSG00000250569	Chromatin interaction
ENSG00000145723	Chromatin interaction
ENSG00000202077	Chromatin interaction
ENSG00000254231	Chromatin interaction
ENSG00000149476	Chromatin interaction
ENSG00000085719	Chromatin interaction
ENSG00000176623	Chromatin interaction
ENSG00000148399	Chromatin interaction
ENSG00000145725	Chromatin interaction

Extended variants
information (count: 108 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:105)

rs_ID	r²[population]
rs10086340	0.89[AFR][1000 genomes];0.84[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs10087788	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10095498	0.82[AFR][1000 genomes]
rs10098356	0.84[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs10102229	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1016102	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10481197	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10956873	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1135451	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11539113	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11992656	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11992955	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12541793	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12543544	0.86[ASN][1000 genomes]
rs12544463	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12546802	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12550142	0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12678720	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs12678772	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs12679811	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13042	0.82[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs13249177	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13249753	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13251006	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13252046	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13253261	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13253296	0.89[AFR][1000 genomes];0.84[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs13253515	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13256765	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs13257414	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13258126	0.89[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs13260345	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13261901	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13261956	0.94[AFR][1000 genomes];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13264021	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13264364	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13267782	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13267858	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13269259	0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13270090	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13272148	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13273338	0.89[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs13279589	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13279850	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13281414	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13282351	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28378899	0.81[AFR][1000 genomes]
rs28561640	0.87[AFR][1000 genomes]
rs3213912	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34219490	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34227066	0.89[AFR][1000 genomes];0.84[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs34367154	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34596274	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34794500	0.89[AFR][1000 genomes];0.84[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs35418161	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35471529	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35592191	0.89[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs35871312	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs36081104	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3779806	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3779808	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4129535	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs41469550	0.81[AFR][1000 genomes]
rs4961193	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4961195	0.99[ASN][1000 genomes]
rs4961197	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs56752411	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs60982560	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61106663	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6471316	0.81[AFR][1000 genomes]
rs6471360	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6651267	0.85[AMR][1000 genomes]
rs6651269	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs67123356	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs68008113	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6985066	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6992287	0.81[AFR][1000 genomes]
rs6992944	0.81[AFR][1000 genomes]
rs6998303	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7007055	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7007855	0.84[AFR][1000 genomes]
rs7017706	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7017716	0.84[AFR][1000 genomes]
rs72606633	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7459877	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7460342	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7460650	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7461366	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7461413	0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7461668	0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7462883	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7465511	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7830480	0.81[AFR][1000 genomes]
rs7833049	0.89[AFR][1000 genomes];0.84[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs7837569	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7839601	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7842042	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7846090	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8635	0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9297921	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9297922	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9297923	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9942792	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9942793	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9942823	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3349873	chr8:87185763-87603726	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv1023510	chr8:87429001-87874948	Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv933966	chr8:87454655-87591558	ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Weak transcription Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs66808088	RMDN1	cis	Whole Blood	GTEx

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:87519400-87521600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr8:87519600-87521400	Active TSS	Muscle Satellite Cultured Cells	--
3	chr8:87519600-87521400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr8:87519600-87521400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr8:87519600-87521400	Active TSS	Fetal Intestine Large	intestine
6	chr8:87519600-87521400	Active TSS	A549	lung
7	chr8:87519600-87521400	Active TSS	NHLF	lung
8	chr8:87519600-87521600	Active TSS	H1 Cell Line	embryonic stem cell
9	chr8:87519600-87521600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr8:87519600-87521600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr8:87519600-87521600	Active TSS	HSMM	muscle
12	chr8:87519600-87521600	Active TSS	NHEK	skin
13	chr8:87519600-87521800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr8:87519600-87521800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr8:87519800-87521400	Active TSS	HUES48 Cell Line	embryonic stem cell
16	chr8:87519800-87521400	Active TSS	HUES6 Cell Line	embryonic stem cell
17	chr8:87519800-87521400	Active TSS	HUES64 Cell Line	embryonic stem cell
18	chr8:87519800-87521400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr8:87519800-87521400	Active TSS	iPS-18 Cell Line	embryonic stem cell
20	chr8:87519800-87521400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr8:87519800-87521600	Active TSS	ES-I3 Cell Line	embryonic stem cell
22	chr8:87519800-87521600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr8:87519800-87521600	Active TSS	Fetal Brain Male	brain
24	chr8:87519800-87521600	Active TSS	Fetal Muscle Trunk	muscle
25	chr8:87519800-87521600	Active TSS	Psoas Muscle	Psoas
26	chr8:87519800-87521600	Active TSS	Right Atrium	heart
27	chr8:87520000-87521400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr8:87520000-87521400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr8:87520000-87521400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr8:87520000-87521400	Active TSS	Primary T cells from cord blood	blood
31	chr8:87520000-87521400	Active TSS	Aorta	Aorta
32	chr8:87520000-87521400	Active TSS	Fetal Heart	heart
33	chr8:87520000-87521400	Active TSS	Fetal Muscle Leg	muscle
34	chr8:87520000-87521400	Active TSS	Left Ventricle	heart
35	chr8:87520000-87521400	Active TSS	Right Ventricle	heart
36	chr8:87520000-87521400	Active TSS	Stomach Mucosa	stomach
37	chr8:87520000-87521600	Active TSS	H9 Cell Line	embryonic stem cell
38	chr8:87520000-87521600	Active TSS	iPS-15b Cell Line	embryonic stem cell
39	chr8:87520000-87521600	Active TSS	Brain Angular Gyrus	brain
40	chr8:87520000-87521600	Active TSS	Brain Germinal Matrix	brain
41	chr8:87520000-87521600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
42	chr8:87520000-87521600	Active TSS	Duodenum Mucosa	Duodenum
43	chr8:87520000-87521600	Active TSS	Fetal Intestine Small	intestine
44	chr8:87520000-87521600	Active TSS	Fetal Kidney	kidney
45	chr8:87520000-87521600	Active TSS	Fetal Stomach	stomach
46	chr8:87520000-87521600	Active TSS	HSMMtube	muscle
47	chr8:87520200-87521400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr8:87520200-87521400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
49	chr8:87520200-87521400	Active TSS	Primary T killer naive cells fromperipheralblood	blood
50	chr8:87520200-87521400	Active TSS	Adipose Nuclei	Adipose

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