Variant report

Variant	rs7579143
Chromosome Location	chr2:99952086-99952087
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	MAX	chr2:99952001-99952167	HepG2	liver:	n/a	n/a
2	RCOR1	chr2:99952081-99952158	HepG2	liver:	n/a	n/a
3	POLR2A	chr2:99952018-99954528	Hela-S3	cervix:	n/a	n/a
4	MAX	chr2:99951997-99952197	H1-hESC	embryonic stem cell:	n/a	n/a
5	GATA2	chr2:99952082-99954150	SH-SY5Y	brain:	n/a	chr2:99952086-99952103 chr2:99952399-99952409
6	MYC	chr2:99951973-99954969	K562	blood:	n/a	n/a
7	SIN3A	chr2:99951909-99954888	H1-hESC	embryonic stem cell:	n/a	chr2:99952653-99952662 chr2:99952346-99952354 chr2:99951997-99952005
8	POLR2A	chr2:99951607-99954890	MCF10A-Er-Src	breast:	n/a	n/a
9	POLR2A	chr2:99951882-99954895	K562	blood:	n/a	n/a
10	POLR2A	chr2:99951870-99954722	GM12892	blood:	n/a	n/a
11	BHLHE40	chr2:99952003-99954216	K562	blood:	n/a	n/a
12	TEAD4	chr2:99951964-99954081	K562	blood:	n/a	n/a
13	MXI1	chr2:99951643-99955117	IMR90	lung:	n/a	n/a
14	NRF1	chr2:99951899-99954192	SK-N-SH	brain:	n/a	chr2:99952557-99952571 chr2:99952560-99952574 chr2:99952562-99952571 chr2:99953830-99953841 chr2:99953830-99953844 chr2:99952897-99952908 chr2:99953827-99953841 chr2:99952560-99952571 chr2:99953830-99953841 chr2:99953832-99953841
15	MYC	chr2:99951976-99954743	K562	blood:	n/a	n/a
16	POLR2A	chr2:99951918-99954166	GM12878	blood:	n/a	n/a
17	POLR2A	chr2:99952044-99954249	HUVEC	blood vessel:	n/a	n/a
18	JUND	chr2:99952033-99954556	K562	blood:	n/a	chr2:99954238-99954247
19	POLR2A	chr2:99951671-99954091	K562	blood:	n/a	n/a
20	EP300	chr2:99951937-99954022	K562	blood:	n/a	chr2:99952489-99952502
21	POLR2A	chr2:99951677-99955011	GM12891	blood:	n/a	n/a
22	RUNX3	chr2:99952083-99954143	GM12878	blood:	n/a	n/a
23	MXI1	chr2:99951567-99955221	SK-N-SH	brain:	n/a	n/a
24	HCFC1	chr2:99951498-99955045	Hela-S3	cervix:	n/a	n/a
25	MYC	chr2:99951873-99954925	K562	blood:	n/a	chr2:99951891-99951901
26	WRNIP1	chr2:99952045-99954067	GM12878	blood:	n/a	n/a
27	TAL1	chr2:99951961-99954050	K562	blood:	n/a	chr2:99952086-99952104
28	POLR2A	chr2:99951948-99953202	K562	blood:	n/a	n/a
29	SREBP1	chr2:99951380-99955264	GM12878	blood:	n/a	n/a
30	RCOR1	chr2:99951995-99952324	K562	blood:	n/a	n/a
31	POLR2A	chr2:99951761-99954983	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:99769128..99773388-chr2:99951603..99955259,4	K562	blood:
2	chr2:99950324..99955285-chr2:100104603..100108030,8	MCF-7	breast:
3	chr2:99951055..99957153-chr2:100104418..100108530,14	K562	blood:
4	chr2:99951914..99953131-chr5:1633620..1634641,3	Hela-S3	cervix:
5	chr2:99919697..99922118-chr2:99951528..99953553,2	K562	blood:
6	chr2:99950963..99955972-chr2:100104881..100108306,7	MCF-7	breast:
7	chr2:99796197..99799811-chr2:99951417..99956311,9	MCF-7	breast:
8	chr2:99951256..99955616-chr2:100104663..100107649,9	K562	blood:
9	chr2:99800478..99805908-chr2:99949969..99953911,6	MCF-7	breast:
10	chr2:99950906..99955641-chr2:100018668..100021744,4	MCF-7	breast:
11	chr2:99223954..99226823-chr2:99951325..99954405,3	K562	blood:
12	chr2:99796308..99800210-chr2:99949212..99956082,14	MCF-7	breast:

Variant related genes	Relation type
EIF5B	TF binding region
TXNDC9	TF binding region
ENSG00000188002	Chromatin interaction
ENSG00000158411	Chromatin interaction
ENSG00000241962	Chromatin interaction
ENSG00000144182	Chromatin interaction
ENSG00000135951	Chromatin interaction
ENSG00000273155	Chromatin interaction
ENSG00000135945	Chromatin interaction
ENSG00000115446	Chromatin interaction
ENSG00000185414	Chromatin interaction
ENSG00000273306	Chromatin interaction
ENSG00000144214	Chromatin interaction
ENSG00000183513	Chromatin interaction

Extended variants
information (count: 111 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:108)

rs_ID	r²[population]
rs10173883	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10175852	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10176205	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10179343	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10179435	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10179697	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10180138	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10180688	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10182492	0.89[CEU][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.82[EUR][1000 genomes]
rs10186223	0.86[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];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10191001	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs10207435	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10210257	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10210346	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10469848	0.82[EUR][1000 genomes]
rs10496337	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10865030	0.85[MEX][hapmap];0.91[TSI][hapmap]
rs11123776	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11123778	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11123783	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11123784	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs12162367	0.96[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12617324	0.80[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs12623835	1.00[CEU][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12989521	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12991982	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs12992356	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13001438	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13017843	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13028722	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13032885	0.84[EUR][1000 genomes]
rs13384665	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs13394927	0.94[ASW][hapmap];0.89[CEU][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];0.85[MEX][hapmap];0.82[EUR][1000 genomes]
rs13401163	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13402784	1.00[ASW][hapmap];0.89[CEU][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.85[MEX][hapmap];0.96[MKK][hapmap];0.95[YRI][hapmap];0.82[EUR][1000 genomes]
rs13405400	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13409359	0.87[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13415713	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13416265	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13419448	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13420087	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13420293	0.89[CEU][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.82[EUR][1000 genomes]
rs13426758	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13427424	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13429185	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13429806	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13430662	0.81[ASN][1000 genomes]
rs13430962	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.86[YRI][hapmap];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13431410	0.88[CEU][hapmap];1.00[CHB][hapmap];0.85[YRI][hapmap]
rs13432046	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1565054	0.80[EUR][1000 genomes]
rs17022653	0.89[CEU][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.82[EUR][1000 genomes]
rs17022663	0.89[CEU][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.82[EUR][1000 genomes]
rs1882598	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1922625	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];0.91[YRI][hapmap];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1922626	0.88[CEU][hapmap];0.87[EUR][1000 genomes]
rs1922627	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1948101	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2309577	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2309615	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2309616	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28369929	0.82[MEX][hapmap]
rs28369949	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28382945	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28382947	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28382955	0.82[EUR][1000 genomes]
rs28745279	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3087399	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3792151	1.00[ASW][hapmap];0.89[CEU][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.85[MEX][hapmap];0.96[MKK][hapmap];0.95[YRI][hapmap];0.82[EUR][1000 genomes]
rs3828162	0.81[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];0.81[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4522654	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];0.91[YRI][hapmap];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4850902	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4851189	0.85[MEX][hapmap];0.91[TSI][hapmap]
rs4851191	0.89[CEU][hapmap]
rs4851197	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4851199	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4851201	0.98[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4851202	0.85[EUR][1000 genomes]
rs62153853	0.86[AFR][1000 genomes]
rs6542877	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6706425	0.98[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6712137	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6721031	0.98[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6726711	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6744199	0.87[EUR][1000 genomes]
rs6745645	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6749029	1.00[ASW][hapmap];1.00[CEU][hapmap];0.93[LWK][hapmap];0.89[MKK][hapmap];0.91[YRI][hapmap];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72815074	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7567230	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7567462	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7569805	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7579171	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7579999	0.89[CEU][hapmap];0.85[MEX][hapmap];1.00[TSI][hapmap];0.80[EUR][1000 genomes]
rs7581337	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7582085	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7582133	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7584022	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7584705	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7585532	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7599384	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7599843	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7603388	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7606279	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9308819	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9308821	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9308822	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9308823	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9973846	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[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	nsv431424	chr2:99652682-100494682	Flanking Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv874699	chr2:99898998-100010044	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	nsv524466	chr2:99952086-100031551	Weak transcription Genic enhancers Strong transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs7579143	TSGA10	cis	cerebellum	SCAN
rs7579143	ARID5A	cis	parietal	SCAN
rs7579143	LIPT1	cis	cerebellum	SCAN
rs7579143	LIPT1	cis	parietal	SCAN
rs7579143	LYG1	cis	Whole Blood	GTEx
rs7579143	LYG1	cis	parietal	SCAN
rs7579143	SLC9A2	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:99949000-99952200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr2:99950400-99956000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr2:99950600-99952200	Enhancers	Small Intestine	intestine
4	chr2:99950800-99955400	Active TSS	HUES64 Cell Line	embryonic stem cell
5	chr2:99951000-99952400	Weak transcription	Spleen	Spleen
6	chr2:99951000-99953800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr2:99951000-99953800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr2:99951000-99955600	Active TSS	HMEC	breast
9	chr2:99951200-99954000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr2:99951400-99952200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
11	chr2:99951400-99952200	Flanking Active TSS	Dnd41	blood
12	chr2:99951400-99952200	Flanking Active TSS	NH-A	brain
13	chr2:99951400-99952400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr2:99951400-99955200	Active TSS	A549	lung
15	chr2:99951400-99955400	Active TSS	HUES48 Cell Line	embryonic stem cell
16	chr2:99951400-99955400	Active TSS	HUES6 Cell Line	embryonic stem cell
17	chr2:99951400-99956000	Active TSS	K562	blood
18	chr2:99951600-99952200	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr2:99951600-99952200	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
20	chr2:99951600-99952200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr2:99951600-99952200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
22	chr2:99951600-99952200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr2:99951600-99952200	Flanking Active TSS	Brain Hippocampus Middle	brain
24	chr2:99951600-99952200	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
25	chr2:99951600-99952200	Flanking Active TSS	Colon Smooth Muscle	Colon
26	chr2:99951600-99952200	Flanking Active TSS	Duodenum Mucosa	Duodenum
27	chr2:99951600-99952200	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
28	chr2:99951600-99952200	Flanking Active TSS	Fetal Brain Male	brain
29	chr2:99951600-99952200	Flanking Active TSS	Fetal Brain Female	brain
30	chr2:99951600-99952200	Flanking Active TSS	Fetal Heart	heart
31	chr2:99951600-99952200	Flanking Active TSS	Fetal Lung	lung
32	chr2:99951600-99952200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
33	chr2:99951600-99952200	Flanking Active TSS	Rectal Smooth Muscle	rectum
34	chr2:99951600-99952200	Enhancers	Stomach Mucosa	stomach
35	chr2:99951600-99952200	Flanking Active TSS	Stomach Smooth Muscle	stomach
36	chr2:99951600-99952200	Flanking Active TSS	HUVEC	blood vessel
37	chr2:99951600-99952200	Flanking Active TSS	Osteobl	bone
38	chr2:99951600-99952400	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
39	chr2:99951600-99952400	Flanking Active TSS	Primary T cells from cord blood	blood
40	chr2:99951600-99952400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
41	chr2:99951600-99952400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
42	chr2:99951600-99952400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
43	chr2:99951600-99952400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr2:99951600-99952400	Flanking Active TSS	Liver	Liver
45	chr2:99951600-99952400	Flanking Active TSS	Fetal Muscle Leg	muscle
46	chr2:99951600-99952400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
47	chr2:99951600-99952600	Flanking Active TSS	Primary hematopoietic stem cells	blood
48	chr2:99951600-99952600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr2:99951600-99952600	Flanking Active TSS	Adipose Nuclei	Adipose
50	chr2:99951600-99952600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle

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