Variant report

Variant	rs68008113
Chromosome Location	chr8:87520894-87520895
allele	A/C
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	PAX5	chr8:87520765-87521084	GM12878	blood:	n/a	n/a
2	POLR2A	chr8:87520647-87521337	HCT-116	colon:	n/a	n/a
3	ZNF384	chr8:87520390-87521363	K562	blood:	n/a	n/a
4	MXI1	chr8:87520160-87521531	Hela-S3	cervix:	n/a	n/a
5	MYBL2	chr8:87520576-87521175	HepG2	liver:	n/a	n/a
6	RELA	chr8:87520143-87521319	GM19193	blood:	n/a	n/a
7	CCNT2	chr8:87520260-87521084	K562	blood:	n/a	n/a
8	NFYB	chr8:87520699-87521228	K562	blood:	n/a	chr8:87521041-87521056
9	FOXM1	chr8:87520059-87521238	GM12878	blood:	n/a	n/a
10	MAZ	chr8:87520313-87521194	Hela-S3	cervix:	n/a	chr8:87520494-87520503
11	POLR2A	chr8:87520160-87521529	K562	blood:	n/a	n/a
12	HCFC1	chr8:87520075-87521517	Hela-S3	cervix:	n/a	n/a
13	HDAC2	chr8:87520085-87521417	MCF-7	breast:	n/a	n/a
14	MYC	chr8:87520826-87521023	HepG2	liver:	n/a	n/a
15	TAF1	chr8:87520638-87521000	GM12878	blood:	n/a	n/a
16	GTF2F1	chr8:87520348-87521279	H1-hESC	embryonic stem cell:	n/a	chr8:87520359-87520370
17	CTCF	chr8:87520834-87520894	GM12891	blood:	n/a	n/a
18	YY1	chr8:87520405-87521177	HepG2	liver:	n/a	n/a
19	GABPA	chr8:87520296-87521325	A549	lung:	n/a	chr8:87521067-87521081 chr8:87520899-87520908 chr8:87520939-87520948
20	YY1	chr8:87520427-87521296	H1-hESC	embryonic stem cell:	n/a	n/a
21	JUND	chr8:87519797-87521508	K562	blood:	n/a	chr8:87520898-87520907
22	FOS	chr8:87520847-87521125	MCF10A-Er-Src	breast:	n/a	chr8:87520898-87520907
23	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
24	STAT3	chr8:87520545-87521127	MCF10A-Er-Src	breast:	n/a	chr8:87520925-87520936
25	POLR2A	chr8:87520161-87521302	MCF-7	breast:	n/a	n/a
26	IRF1	chr8:87519931-87521496	K562	blood:	n/a	chr8:87521189-87521199 chr8:87520684-87520693 chr8:87521185-87521199 chr8:87520096-87520107
27	RAD21	chr8:87520776-87521137	H1-hESC	embryonic stem cell:	n/a	n/a
28	USF2	chr8:87520824-87521159	GM12878	blood:	n/a	n/a
29	E2F6	chr8:87520602-87521222	K562	blood:	n/a	chr8:87521071-87521080 chr8:87520939-87520948 chr8:87520899-87520908 chr8:87521027-87521038
30	POLR2A	chr8:87520144-87521229	GM12891	blood:	n/a	n/a
31	SIN3AK20	chr8:87519881-87521582	MCF-7	breast:	n/a	n/a
32	RAD21	chr8:87520192-87521238	IMR90	lung:	n/a	n/a
33	EP300	chr8:87520467-87521029	A549	lung:	n/a	chr8:87520939-87520948
34	TAF1	chr8:87520291-87521121	A549	lung:	n/a	n/a
35	NR2F2	chr8:87520155-87521239	K562	blood:	n/a	n/a
36	CTCF	chr8:87520800-87520908	MCF-7	breast:	n/a	n/a
37	EGR1	chr8:87520800-87521109	GM12878	blood:	n/a	chr8:87520991-87521005 chr8:87521071-87521080 chr8:87520968-87520982 chr8:87520898-87520908
38	ZNF143	chr8:87520306-87521491	K562	blood:	n/a	n/a
39	POLR2A	chr8:87520110-87521323	Raji	blood:	n/a	n/a
40	BCLAF1	chr8:87520045-87521274	GM12878	blood:	n/a	chr8:87521189-87521198
41	MAX	chr8:87520307-87521206	K562	blood:	n/a	chr8:87520494-87520503
42	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
43	MXI1	chr8:87520034-87521488	GM12878	blood:	n/a	n/a
44	CHD2	chr8:87520147-87521309	GM12878	blood:	n/a	n/a
45	TAF1	chr8:87520273-87521311	ECC-1	luminal epithelium:	n/a	n/a
46	TAF1	chr8:87520296-87521216	K562	blood:	n/a	n/a
47	MAZ	chr8:87520546-87521492	HepG2	liver:	n/a	n/a
48	ELF1	chr8:87520485-87521177	K562	blood:	n/a	n/a
49	RCOR1	chr8:87520307-87521272	HepG2	liver:	n/a	n/a
50	REST	chr8:87520315-87521350	A549	lung:	n/a	chr8:87520702-87520716 chr8:87520378-87520385 chr8:87520565-87520578

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:87520894-87520944	SK-N-SH	brain:	n/a
2	chr8:87520894-87520944	PFSK-1	brain:	n/a
3	chr8:87520894-87520944	AG04449	skin:	fetal
4	chr8:87520894-87520944	NT2-D1	testis:	n/a
5	chr8:87520844-87520894	HIPEpiC	eye:	n/a
6	chr8:87520894-87520944	RPTEC	kidney:	n/a
7	chr8:87520894-87520944	NH-A	brain:	n/a
8	chr8:87520894-87520944	HUVEC	blood vessel:	n/a
9	chr8:87520894-87520944	NHDF-neo	bronchial:	n/a
10	chr8:87520894-87520944	HAEpiC	amniotic membrane:	n/a
11	chr8:87520844-87520894	ovcar-3	ovarian:	n/a
12	chr8:87520844-87520894	H1-hESC	embryonic stem cell:	embryo
13	chr8:87520844-87520894	AG09319	gingival:	n/a
14	chr8:87520844-87520894	MCF10A-Er-Src	breast:	n/a
15	chr8:87520844-87520894	AG10803	skin:	n/a
16	chr8:87520844-87520894	BJ	skin:	n/a
17	chr8:87520894-87520944	IMR90	lung:	fetal
18	chr8:87520844-87520894	HEEpiC	esophagus:	n/a
19	chr8:87520844-87520894	AG09309	skin:	n/a
20	chr8:87520844-87520894	HRCEpiC	kidney:	n/a
21	chr8:87520894-87520944	HRE	kidney:	n/a
22	chr8:87520844-87520894	GM12891	blood:	n/a
23	chr8:87520894-87520944	HCF	heart:	n/a
24	chr8:87520844-87520894	Hepatocyte	liver:	n/a
25	chr8:87520894-87520944	HIPEpiC	eye:	n/a
26	chr8:87520894-87520944	GM12891	blood:	n/a
27	chr8:87520894-87520944	HCPEpiC	choroid plexus:	n/a
28	chr8:87520844-87520894	GM12892	blood:	n/a
29	chr8:87520844-87520894	HCM	heart:	n/a
30	chr8:87520844-87520894	HCF	heart:	n/a
31	chr8:87520894-87520944	SKMC	muscle:	n/a
32	chr8:87520894-87520944	U87	brain:	n/a
33	chr8:87520894-87520944	HEEpiC	esophagus:	n/a
34	chr8:87520894-87520944	AG09309	skin:	n/a
35	chr8:87520894-87520944	T-47D	breast:	n/a
36	chr8:87520844-87520894	HL-60	blood:	n/a
37	chr8:87520844-87520894	SKMC	muscle:	n/a
38	chr8:87520844-87520894	IMR90	lung:	fetal
39	chr8:87520894-87520944	HRPEpiC	eye:	n/a
40	chr8:87520844-87520894	ECC-1	luminal epithelium:	n/a
41	chr8:87520844-87520894	PANC-1	pancreas:	n/a
42	chr8:87520894-87520944	MCF10A-Er-Src	breast:	n/a
43	chr8:87520844-87520894	NH-A	brain:	n/a
44	chr8:87520894-87520944	AG04450	lung:	fetal
45	chr8:87520844-87520894	SK-N-MC	brain:	n/a
46	chr8:87520844-87520894	SAEC	small airway:	n/a
47	chr8:87520844-87520894	HAEpiC	amniotic membrane:	n/a
48	chr8:87520844-87520894	AG04450	lung:	fetal
49	chr8:87520894-87520944	AG10803	skin:	n/a
50	chr8:87520894-87520944	H1-hESC	embryonic stem cell:	embryo

No.	Distal block	Cell Line	Cell type
1	chr20:49411069..49411890-chr8:87520428..87521005,2	MCF-7	breast:
2	chr11:61101688..61103603-chr8:87519693..87522551,2	MCF-7	breast:
3	chr8:87487270..87490849-chr8:87519324..87522121,4	K562	blood:
4	chr8:87355027..87357482-chr8:87519258..87521837,2	K562	blood:
5	chr8:87486012..87489459-chr8:87519417..87522118,5	MCF-7	breast:
6	chr17:56735220..56736743-chr8:87519263..87521949,2	MCF-7	breast:
7	chr8:87518953..87524236-chr8:87524519..87528376,7	K562	blood:
8	chr5:102455660..102456623-chr8:87520592..87521214,2	Hela-S3	cervix:
9	chr8:87492324..87497991-chr8:87518822..87522169,6	MCF-7	breast:
10	chr8:87520361..87521228-chr9:140472867..140473630,2	HCT-116	colon:
11	chr6:170151346..170152079-chr8:87520437..87521046,2	HCT-116	colon:
12	chr8:87495583..87497504-chr8:87520238..87522113,2	K562	blood:
13	chr8:87498873..87500941-chr8:87519267..87521705,2	K562	blood:
14	chr8:87519046..87522405-chr8:87523698..87528376,9	K562	blood:
15	chr8:87488182..87492141-chr8:87519043..87522163,5	K562	blood:

Variant related genes	Relation type
RMDN1	TF binding region
RMDN1	CpG island
ENSG00000148399	Chromatin interaction
ENSG00000130023	Chromatin interaction
ENSG00000184786	Chromatin interaction
ENSG00000145723	Chromatin interaction
ENSG00000176623	Chromatin interaction
ENSG00000149476	Chromatin interaction
ENSG00000202077	Chromatin interaction
ENSG00000085719	Chromatin interaction
ENSG00000250569	Chromatin interaction
ENSG00000124243	Chromatin interaction
ENSG00000254231	Chromatin interaction
ENSG00000145725	Chromatin interaction

Extended variants
information (count: 109 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:106)

rs_ID	r²[population]
rs10086340	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10087788	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10095498	0.82[AFR][1000 genomes]
rs10098356	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs10102229	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1016102	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10481197	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10956830	0.80[ASN][1000 genomes]
rs10956873	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1135451	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11539113	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11992656	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11992955	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12541793	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12543544	0.82[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs12544463	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12546802	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12550142	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12678720	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12678772	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12679811	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13042	0.85[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs13249177	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13249753	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13251006	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13252046	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13253261	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13253296	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13253515	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13256765	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13257414	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13258126	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13260345	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13261901	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13261956	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13264021	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13264364	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13267782	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13267858	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13269259	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13270090	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13272148	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13273338	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13279589	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13279850	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13281414	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13282351	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28378899	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs28561640	0.87[AFR][1000 genomes]
rs3213912	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34219490	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34227066	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34367154	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34596274	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34794500	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35418161	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35471529	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35592191	0.92[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs35871312	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs36081104	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3779806	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3779808	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4129535	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs41469550	0.81[AFR][1000 genomes]
rs4961193	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4961195	1.00[ASN][1000 genomes]
rs4961197	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56752411	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs60982560	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61106663	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6471316	0.81[AFR][1000 genomes]
rs6471360	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6651267	0.82[AMR][1000 genomes]
rs6651269	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs66808088	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs67123356	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6985066	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[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];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7007055	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7007855	0.84[AFR][1000 genomes];0.80[ASN][1000 genomes]
rs7017706	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7017716	0.84[AFR][1000 genomes];0.80[ASN][1000 genomes]
rs72606633	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7459877	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7460342	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7460650	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7461366	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7461413	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7461668	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7462883	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7465511	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7830480	0.81[AFR][1000 genomes]
rs7833049	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7837569	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7839601	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7842042	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7846090	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8635	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9297921	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9297922	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9297923	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9942792	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9942793	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9942823	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[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
rs68008113	RMDN1	cis	Whole Blood	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:87519400-87521200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr8:87519400-87521200	Active TSS	GM12878-XiMat	blood
3	chr8:87519400-87521200	Active TSS	K562	blood
4	chr8:87519400-87521200	Active TSS	NH-A	brain
5	chr8:87519400-87521600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr8:87519600-87521200	Active TSS	iPS-20b Cell Line	embryonic stem cell
7	chr8:87519600-87521200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr8:87519600-87521200	Active TSS	Rectal Smooth Muscle	rectum
9	chr8:87519600-87521200	Active TSS	Hela-S3	cervix
10	chr8:87519600-87521200	Active TSS	HepG2	liver
11	chr8:87519600-87521200	Active TSS	NHDF-Ad	bronchial
12	chr8:87519600-87521400	Active TSS	Muscle Satellite Cultured Cells	--
13	chr8:87519600-87521400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr8:87519600-87521400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr8:87519600-87521400	Active TSS	Fetal Intestine Large	intestine
16	chr8:87519600-87521400	Active TSS	A549	lung
17	chr8:87519600-87521400	Active TSS	NHLF	lung
18	chr8:87519600-87521600	Active TSS	H1 Cell Line	embryonic stem cell
19	chr8:87519600-87521600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr8:87519600-87521600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr8:87519600-87521600	Active TSS	HSMM	muscle
22	chr8:87519600-87521600	Active TSS	NHEK	skin
23	chr8:87519600-87521800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr8:87519600-87521800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr8:87519800-87521200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr8:87519800-87521200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
27	chr8:87519800-87521200	Active TSS	Thymus	Thymus
28	chr8:87519800-87521200	Active TSS	HMEC	breast
29	chr8:87519800-87521400	Active TSS	HUES48 Cell Line	embryonic stem cell
30	chr8:87519800-87521400	Active TSS	HUES6 Cell Line	embryonic stem cell
31	chr8:87519800-87521400	Active TSS	HUES64 Cell Line	embryonic stem cell
32	chr8:87519800-87521400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr8:87519800-87521400	Active TSS	iPS-18 Cell Line	embryonic stem cell
34	chr8:87519800-87521400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr8:87519800-87521600	Active TSS	ES-I3 Cell Line	embryonic stem cell
36	chr8:87519800-87521600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr8:87519800-87521600	Active TSS	Fetal Brain Male	brain
38	chr8:87519800-87521600	Active TSS	Fetal Muscle Trunk	muscle
39	chr8:87519800-87521600	Active TSS	Psoas Muscle	Psoas
40	chr8:87519800-87521600	Active TSS	Right Atrium	heart
41	chr8:87520000-87521200	Active TSS	Primary T cells fromperipheralblood	blood
42	chr8:87520000-87521200	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
43	chr8:87520000-87521200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr8:87520000-87521200	Active TSS	Brain Hippocampus Middle	brain
45	chr8:87520000-87521200	Active TSS	Fetal Adrenal Gland	Adrenal Gland
46	chr8:87520000-87521200	Active TSS	Placenta Amnion	Placenta Amnion
47	chr8:87520000-87521400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr8:87520000-87521400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr8:87520000-87521400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr8:87520000-87521400	Active TSS	Primary T cells from cord blood	blood

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