Variant report

Variant	rs10438824
Chromosome Location	chr17:20058510-20058511
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	chr17:20058248-20060182	GM19099	blood:	n/a	n/a
2	RUNX3	chr17:20058405-20060038	GM12878	blood:	n/a	n/a
3	SP1	chr17:20058436-20059381	GM12878	blood:	n/a	chr17:20059276-20059288 chr17:20059214-20059226 chr17:20059276-20059288 chr17:20059214-20059226 chr17:20059216-20059225 chr17:20059277-20059286 chr17:20059278-20059287 chr17:20059137-20059149 chr17:20059215-20059224
4	MEF2A	chr17:20058397-20059342	GM12878	blood:	n/a	chr17:20058830-20058851 chr17:20058681-20058696 chr17:20058834-20058845 chr17:20058679-20058696 chr17:20058832-20058847 chr17:20058831-20058847
5	POLR2A	chr17:20058367-20058688	GM12891	blood:	n/a	n/a
6	FOXM1	chr17:20058379-20059387	GM12878	blood:	n/a	n/a
7	NFIC	chr17:20058371-20059414	GM12878	blood:	n/a	n/a
8	RELA	chr17:20057945-20059382	GM18505	blood:	n/a	n/a
9	MTA3	chr17:20058345-20059378	GM12878	blood:	n/a	n/a
10	BATF	chr17:20058510-20058896	GM12878	blood:	n/a	n/a
11	POLR2A	chr17:20057946-20060189	GM12891	blood:	n/a	n/a
12	SMC3	chr17:20058435-20059272	GM12878	blood:	n/a	n/a
13	MTA3	chr17:20058449-20059260	GM12878	blood:	n/a	n/a
14	NFIC	chr17:20058496-20059395	GM12878	blood:	n/a	n/a
15	RELA	chr17:20057572-20060246	GM12891	blood:	n/a	n/a
16	RELA	chr17:20058247-20059273	GM10847	blood:	n/a	n/a
17	PML	chr17:20058375-20059430	GM12878	blood:	n/a	n/a
18	POLR2A	chr17:20058014-20059533	GM12891	blood:	n/a	n/a
19	BCL11A	chr17:20058472-20058844	GM12878	blood:	n/a	n/a
20	RELA	chr17:20058279-20060363	GM15510	blood:	n/a	n/a
21	RUNX3	chr17:20058248-20059767	GM12878	blood:	n/a	n/a
22	POLR2A	chr17:20058413-20060223	GM19193	blood:	n/a	n/a
23	POLR2A	chr17:20057954-20060213	GM18505	blood:	n/a	n/a
24	POLR2A	chr17:20058298-20059721	GM12892	blood:	n/a	n/a
25	FOXM1	chr17:20058387-20059491	GM12878	blood:	n/a	n/a
26	BATF	chr17:20058437-20059307	GM12878	blood:	n/a	n/a
27	RELA	chr17:20058216-20060213	GM19099	blood:	n/a	n/a
28	RELA	chr17:20058488-20060179	GM19193	blood:	n/a	n/a
29	RELA	chr17:20058354-20059436	GM12892	blood:	n/a	n/a
30	POLR2A	chr17:20058057-20060143	GM12892	blood:	n/a	n/a
31	ATF2	chr17:20058419-20059429	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:20057192..20060270-chr17:20108096..20110844,3	K562	blood:
2	chr17:19878871..19883594-chr17:20057277..20060362,4	K562	blood:

Variant related genes	Relation type
SPECC1	TF binding region
ENSG00000108599	Chromatin interaction
ENSG00000128487	Chromatin interaction

Extended variants
information (count: 148 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:134)

rs_ID	r²[population]
rs1009082	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11654025	0.85[CEU][hapmap]
rs11658169	1.00[LWK][hapmap]
rs11870147	0.86[ASW][hapmap];0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[ASN][1000 genomes]
rs11871827	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[ASN][1000 genomes]
rs11871945	1.00[ASN][1000 genomes]
rs12450857	1.00[CHB][hapmap]
rs12453720	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs12935996	1.00[LWK][hapmap];1.00[YRI][hapmap]
rs12937827	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12941200	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12943904	0.80[EUR][1000 genomes]
rs12947950	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12948178	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12949485	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12952398	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1373147	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs1544421	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs1561974	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs16960550	1.00[LWK][hapmap]
rs17604987	1.00[CHB][hapmap]
rs17686622	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17686798	0.86[ASW][hapmap];0.85[CEU][hapmap];0.81[AMR][1000 genomes]
rs17686839	0.85[CEU][hapmap];1.00[CHB][hapmap];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17759609	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[LWK][hapmap];0.91[MKK][hapmap];0.85[TSI][hapmap]
rs17759923	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17759959	0.85[CEU][hapmap]
rs1812934	1.00[ASW][hapmap];0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs1985810	1.00[ASN][1000 genomes]
rs1992562	0.86[ASW][hapmap];0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[ASN][1000 genomes]
rs2013441	0.86[ASW][hapmap];0.84[CEU][hapmap];0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2013576	1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[ASN][1000 genomes]
rs2034109	0.84[CEU][hapmap];1.00[ASN][1000 genomes]
rs2058971	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap]
rs2080673	1.00[ASN][1000 genomes]
rs2107566	0.86[ASW][hapmap];0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs2108981	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs2120282	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs2158473	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs2165897	0.85[CEU][hapmap];1.00[ASN][1000 genomes]
rs2189710	0.86[ASW][hapmap];0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[ASN][1000 genomes]
rs2243732	1.00[ASN][1000 genomes]
rs2263175	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs2386429	1.00[ASN][1000 genomes]
rs2386485	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs2526458	1.00[ASN][1000 genomes]
rs2526460	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs2526462	0.84[CEU][hapmap];1.00[CHB][hapmap]
rs2526464	1.00[ASN][1000 genomes]
rs2526467	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs2526468	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2526469	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2526470	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2526471	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2526472	1.00[ASN][1000 genomes]
rs2526473	1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2526474	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs2526475	0.86[ASW][hapmap];0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[ASN][1000 genomes]
rs2526480	0.86[ASW][hapmap];0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[ASN][1000 genomes]
rs2526483	1.00[ASN][1000 genomes]
rs2526484	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs2526488	1.00[ASN][1000 genomes]
rs2526490	0.86[CEU][hapmap];1.00[ASN][1000 genomes]
rs2526491	1.00[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2526492	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2703772	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[ASN][1000 genomes]
rs2703773	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2703774	0.86[ASW][hapmap];0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs2703778	1.00[ASN][1000 genomes]
rs2703779	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2703780	1.00[ASN][1000 genomes]
rs2703782	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs2703784	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2703785	1.00[ASN][1000 genomes]
rs2703787	1.00[ASN][1000 genomes]
rs2703789	1.00[ASN][1000 genomes]
rs2703790	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs2703791	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs2703792	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs2703794	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs2703797	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2703799	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[ASN][1000 genomes]
rs2703801	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs2703802	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[ASN][1000 genomes]
rs2703804	0.86[ASW][hapmap];0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[ASN][1000 genomes]
rs2703806	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs2703808	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs2703810	1.00[ASN][1000 genomes]
rs2703811	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2703813	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2703815	0.86[ASW][hapmap];0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[ASN][1000 genomes]
rs2703816	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs2703817	0.86[ASW][hapmap];0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[ASN][1000 genomes]
rs2703818	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs2703820	1.00[ASN][1000 genomes]
rs2703821	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs34089239	0.86[ASW][hapmap];0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs34644796	1.00[ASN][1000 genomes]
rs34712254	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs35103332	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs36051592	0.82[AMR][1000 genomes]
rs3850783	0.86[ASW][hapmap];0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[ASN][1000 genomes]
rs3850784	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[ASN][1000 genomes]
rs3850785	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs3862151	1.00[CHB][hapmap];1.00[CHD][hapmap];0.85[TSI][hapmap]
rs4588033	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs4924802	1.00[CHB][hapmap]
rs4924808	0.85[CEU][hapmap]
rs4924809	0.85[CEU][hapmap];1.00[CHB][hapmap];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4924810	1.00[ASW][hapmap];0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[YRI][hapmap];1.00[ASN][1000 genomes]
rs4925084	1.00[CHB][hapmap]
rs4925089	1.00[ASN][1000 genomes]
rs62066869	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62067558	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6587063	0.83[ASN][1000 genomes]
rs6587064	0.96[CEU][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7207611	0.86[ASW][hapmap];0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[ASN][1000 genomes]
rs7207817	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs7223488	0.83[ASN][1000 genomes]
rs8068720	0.85[CEU][hapmap];1.00[CHB][hapmap]
rs8070401	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8071665	0.85[CEU][hapmap];1.00[ASN][1000 genomes]
rs8074047	1.00[ASN][1000 genomes]
rs8079701	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs8080827	1.00[CHB][hapmap]
rs9325894	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs9892630	1.00[ASN][1000 genomes]
rs9896221	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs9896709	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs9897328	0.86[ASW][hapmap];0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[ASN][1000 genomes]
rs9900166	1.00[ASN][1000 genomes]
rs9904928	0.86[ASW][hapmap];0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs9905493	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs9915059	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062853	chr17:19547912-20206601	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
2	nsv907868	chr17:19768924-20217122	Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Weak transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	nsv1060337	chr17:19828636-20204872	Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	nsv543257	chr17:19828636-20204872	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
5	nsv907871	chr17:19927699-20088492	Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
6	nsv482438	chr17:19934376-20089005	Enhancers Weak transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
7	nsv833395	chr17:19969959-20124084	Genic enhancers Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
8	nsv1067100	chr17:20007480-20464520	Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
9	nsv543260	chr17:20007480-20464520	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
10	nsv482830	chr17:20012748-20169153	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
11	nsv833396	chr17:20029183-20150808	Enhancers Strong transcription Active TSS Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
12	nsv2003	chr17:20046306-20090653	Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
13	esv3314150	chr17:20058385-20061233	Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
14	esv3314151	chr17:20058385-20061233	Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10438824	SPECC1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:20029600-20058800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr17:20032000-20058600	Weak transcription	A549	lung
3	chr17:20052800-20058800	Weak transcription	Adipose Nuclei	Adipose
4	chr17:20052800-20058800	Weak transcription	Aorta	Aorta
5	chr17:20053000-20058600	Weak transcription	Brain Substantia Nigra	brain
6	chr17:20054600-20058800	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr17:20055000-20058600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr17:20055000-20058600	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr17:20055000-20058600	Weak transcription	Monocytes-CD14+_RO01746	blood
10	chr17:20056200-20058800	Enhancers	Primary B cells from peripheral blood	blood
11	chr17:20056600-20058800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr17:20057000-20058600	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr17:20057000-20058800	Weak transcription	Brain Hippocampus Middle	brain
14	chr17:20057000-20058800	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr17:20057000-20059000	Weak transcription	Colonic Mucosa	Colon
16	chr17:20057200-20058800	Weak transcription	Esophagus	oesophagus
17	chr17:20057400-20058800	Enhancers	Brain Inferior Temporal Lobe	brain
18	chr17:20057600-20058600	Enhancers	Brain Angular Gyrus	brain
19	chr17:20057600-20058800	Enhancers	H9 Cell Line	embryonic stem cell
20	chr17:20057800-20058800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr17:20058000-20058600	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
22	chr17:20058000-20058600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr17:20058000-20058600	Enhancers	HMEC	breast
24	chr17:20058000-20058800	Enhancers	Primary hematopoietic stem cells	blood
25	chr17:20058000-20059000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr17:20058000-20059000	Enhancers	Fetal Heart	heart
27	chr17:20058200-20058600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr17:20058200-20058600	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
29	chr17:20058200-20058600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
30	chr17:20058200-20058600	Enhancers	NHEK	skin
31	chr17:20058200-20058800	Enhancers	Brain Cingulate Gyrus	brain
32	chr17:20058200-20059000	Weak transcription	Spleen	Spleen
33	chr17:20058400-20058600	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
34	chr17:20058400-20058600	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
35	chr17:20058400-20058600	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
36	chr17:20058400-20058600	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
37	chr17:20058400-20058600	Enhancers	Primary B cells from cord blood	blood
38	chr17:20058400-20058600	Enhancers	Primary hematopoietic stem cells short term culture	blood
39	chr17:20058400-20058600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
40	chr17:20058400-20058600	Enhancers	Primary T helper naive cells from peripheral blood	blood
41	chr17:20058400-20058600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
42	chr17:20058400-20058600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr17:20058400-20058600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr17:20058400-20058800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr17:20058400-20058800	Enhancers	Primary T cells from cord blood	blood
46	chr17:20058400-20058800	Enhancers	Primary T cells fromperipheralblood	blood
47	chr17:20058400-20058800	Enhancers	Primary T helper cells PMA-I stimulated	--
48	chr17:20058400-20058800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
49	chr17:20058400-20058800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
50	chr17:20058400-20058800	Enhancers	Cortex derived primary cultured neurospheres	brain

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