Variant report

Variant	rs2852509
Chromosome Location	chr6:101844515-101844516
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	REST	chr6:101844049-101845243	ECC-1	luminal epithelium:	n/a	chr6:101844617-101844626 chr6:101844620-101844633 chr6:101844617-101844637 chr6:101844617-101844637 chr6:101844617-101844637 chr6:101844683-101844703 chr6:101844623-101844637 chr6:101844620-101844633 chr6:101844683-101844703 chr6:101844622-101844631 chr6:101844617-101844624 chr6:101844618-101844636
2	TEAD4	chr6:101844367-101844904	A549	lung:	n/a	n/a
3	REST	chr6:101844418-101844797	GM12878	blood:	n/a	chr6:101844617-101844626 chr6:101844620-101844633 chr6:101844617-101844637 chr6:101844617-101844637 chr6:101844617-101844637 chr6:101844683-101844703 chr6:101844623-101844637 chr6:101844620-101844633 chr6:101844683-101844703 chr6:101844622-101844631 chr6:101844617-101844624 chr6:101844618-101844636
4	REST	chr6:101844423-101844918	GM12878	blood:	n/a	chr6:101844617-101844626 chr6:101844620-101844633 chr6:101844617-101844637 chr6:101844617-101844637 chr6:101844617-101844637 chr6:101844683-101844703 chr6:101844623-101844637 chr6:101844620-101844633 chr6:101844683-101844703 chr6:101844622-101844631 chr6:101844617-101844624 chr6:101844618-101844636
5	ARID3A	chr6:101844466-101844768	HepG2	liver:	n/a	n/a
6	REST	chr6:101844481-101844739	SK-N-SH	brain:	n/a	chr6:101844617-101844626 chr6:101844620-101844633 chr6:101844617-101844637 chr6:101844617-101844637 chr6:101844617-101844637 chr6:101844683-101844703 chr6:101844623-101844637 chr6:101844620-101844633 chr6:101844683-101844703 chr6:101844622-101844631 chr6:101844617-101844624 chr6:101844618-101844636
7	RCOR1	chr6:101844220-101845438	IMR90	lung:	n/a	n/a
8	REST	chr6:101844266-101844954	MCF-7	breast:	n/a	chr6:101844617-101844626 chr6:101844620-101844633 chr6:101844617-101844637 chr6:101844617-101844637 chr6:101844617-101844637 chr6:101844683-101844703 chr6:101844623-101844637 chr6:101844620-101844633 chr6:101844683-101844703 chr6:101844622-101844631 chr6:101844617-101844624 chr6:101844618-101844636
9	REST	chr6:101844107-101845297	PANC-1	pancreas:	n/a	chr6:101844617-101844626 chr6:101844620-101844633 chr6:101844617-101844637 chr6:101844617-101844637 chr6:101844617-101844637 chr6:101844683-101844703 chr6:101844623-101844637 chr6:101844620-101844633 chr6:101844683-101844703 chr6:101844622-101844631 chr6:101844617-101844624 chr6:101844618-101844636
10	REST	chr6:101844351-101844853	K562	blood:	n/a	chr6:101844617-101844626 chr6:101844620-101844633 chr6:101844617-101844637 chr6:101844617-101844637 chr6:101844617-101844637 chr6:101844683-101844703 chr6:101844623-101844637 chr6:101844620-101844633 chr6:101844683-101844703 chr6:101844622-101844631 chr6:101844617-101844624 chr6:101844618-101844636
11	REST	chr6:101844461-101844755	PANC-1	pancreas:	n/a	chr6:101844617-101844626 chr6:101844620-101844633 chr6:101844617-101844637 chr6:101844617-101844637 chr6:101844617-101844637 chr6:101844683-101844703 chr6:101844623-101844637 chr6:101844620-101844633 chr6:101844683-101844703 chr6:101844622-101844631 chr6:101844617-101844624 chr6:101844618-101844636
12	REST	chr6:101844477-101844756	PANC-1	pancreas:	n/a	chr6:101844617-101844626 chr6:101844620-101844633 chr6:101844617-101844637 chr6:101844617-101844637 chr6:101844617-101844637 chr6:101844683-101844703 chr6:101844623-101844637 chr6:101844620-101844633 chr6:101844683-101844703 chr6:101844622-101844631 chr6:101844617-101844624 chr6:101844618-101844636
13	REST	chr6:101844307-101844944	HepG2	liver:	n/a	chr6:101844617-101844626 chr6:101844620-101844633 chr6:101844617-101844637 chr6:101844617-101844637 chr6:101844617-101844637 chr6:101844683-101844703 chr6:101844623-101844637 chr6:101844620-101844633 chr6:101844683-101844703 chr6:101844622-101844631 chr6:101844617-101844624 chr6:101844618-101844636
14	REST	chr6:101844401-101844782	PFSK-1	brain:	n/a	chr6:101844617-101844626 chr6:101844620-101844633 chr6:101844617-101844637 chr6:101844617-101844637 chr6:101844617-101844637 chr6:101844683-101844703 chr6:101844623-101844637 chr6:101844620-101844633 chr6:101844683-101844703 chr6:101844622-101844631 chr6:101844617-101844624 chr6:101844618-101844636
15	REST	chr6:101843979-101845505	HL-60	blood:	n/a	chr6:101844617-101844626 chr6:101844620-101844633 chr6:101844617-101844637 chr6:101844617-101844637 chr6:101844617-101844637 chr6:101844683-101844703 chr6:101844623-101844637 chr6:101844620-101844633 chr6:101844683-101844703 chr6:101844622-101844631 chr6:101844617-101844624 chr6:101845315-101845323 chr6:101844618-101844636
16	RCOR1	chr6:101844449-101844801	Hela-S3	cervix:	n/a	n/a
17	REST	chr6:101844191-101845417	Hela-S3	cervix:	n/a	chr6:101844617-101844626 chr6:101844620-101844633 chr6:101844617-101844637 chr6:101844617-101844637 chr6:101844617-101844637 chr6:101844683-101844703 chr6:101844623-101844637 chr6:101844620-101844633 chr6:101844683-101844703 chr6:101844622-101844631 chr6:101844617-101844624 chr6:101845315-101845323 chr6:101844618-101844636
18	REST	chr6:101844415-101844766	SK-N-SH	brain:	n/a	chr6:101844617-101844626 chr6:101844620-101844633 chr6:101844617-101844637 chr6:101844617-101844637 chr6:101844617-101844637 chr6:101844683-101844703 chr6:101844623-101844637 chr6:101844620-101844633 chr6:101844683-101844703 chr6:101844622-101844631 chr6:101844617-101844624 chr6:101844618-101844636
19	TEAD4	chr6:101844482-101844738	MCF-7	breast:	n/a	n/a
20	REST	chr6:101844464-101844763	K562	blood:	n/a	chr6:101844617-101844626 chr6:101844620-101844633 chr6:101844617-101844637 chr6:101844617-101844637 chr6:101844617-101844637 chr6:101844683-101844703 chr6:101844623-101844637 chr6:101844620-101844633 chr6:101844683-101844703 chr6:101844622-101844631 chr6:101844617-101844624 chr6:101844618-101844636
21	TEAD4	chr6:101844441-101844759	H1-hESC	embryonic stem cell:	n/a	n/a
22	ZNF143	chr6:101844437-101844823	GM12878	blood:	n/a	n/a
23	REST	chr6:101844407-101844870	PANC-1	pancreas:	n/a	chr6:101844617-101844626 chr6:101844620-101844633 chr6:101844617-101844637 chr6:101844617-101844637 chr6:101844617-101844637 chr6:101844683-101844703 chr6:101844623-101844637 chr6:101844620-101844633 chr6:101844683-101844703 chr6:101844622-101844631 chr6:101844617-101844624 chr6:101844618-101844636
24	REST	chr6:101844479-101844737	HepG2	liver:	n/a	chr6:101844617-101844626 chr6:101844620-101844633 chr6:101844617-101844637 chr6:101844617-101844637 chr6:101844617-101844637 chr6:101844683-101844703 chr6:101844623-101844637 chr6:101844620-101844633 chr6:101844683-101844703 chr6:101844622-101844631 chr6:101844617-101844624 chr6:101844618-101844636
25	REST	chr6:101844422-101844765	Hela-S3	cervix:	n/a	chr6:101844617-101844626 chr6:101844620-101844633 chr6:101844617-101844637 chr6:101844617-101844637 chr6:101844617-101844637 chr6:101844683-101844703 chr6:101844623-101844637 chr6:101844620-101844633 chr6:101844683-101844703 chr6:101844622-101844631 chr6:101844617-101844624 chr6:101844618-101844636
26	TEAD4	chr6:101844507-101844768	HCT-116	colon:	n/a	n/a
27	SIN3A	chr6:101844451-101844796	H1-hESC	embryonic stem cell:	n/a	chr6:101844621-101844631 chr6:101844622-101844636 chr6:101844617-101844630 chr6:101844688-101844702
28	REST	chr6:101844472-101844707	U87	brain:	n/a	chr6:101844617-101844626 chr6:101844620-101844633 chr6:101844617-101844637 chr6:101844617-101844637 chr6:101844617-101844637 chr6:101844683-101844703 chr6:101844623-101844637 chr6:101844620-101844633 chr6:101844683-101844703 chr6:101844622-101844631 chr6:101844617-101844624 chr6:101844618-101844636
29	REST	chr6:101844198-101845338	PANC-1	pancreas:	n/a	chr6:101844617-101844626 chr6:101844620-101844633 chr6:101844617-101844637 chr6:101844617-101844637 chr6:101844617-101844637 chr6:101844683-101844703 chr6:101844623-101844637 chr6:101844620-101844633 chr6:101844683-101844703 chr6:101844622-101844631 chr6:101844617-101844624 chr6:101845315-101845323 chr6:101844618-101844636
30	REST	chr6:101844349-101844792	U87	brain:	n/a	chr6:101844617-101844626 chr6:101844620-101844633 chr6:101844617-101844637 chr6:101844617-101844637 chr6:101844617-101844637 chr6:101844683-101844703 chr6:101844623-101844637 chr6:101844620-101844633 chr6:101844683-101844703 chr6:101844622-101844631 chr6:101844617-101844624 chr6:101844618-101844636
31	RCOR1	chr6:101844488-101844756	HepG2	liver:	n/a	n/a
32	ZNF143	chr6:101844464-101844772	K562	blood:	n/a	n/a
33	FOS	chr6:101844471-101844671	MCF10A-Er-Src	breast:	n/a	n/a
34	TEAD4	chr6:101844442-101844866	ECC-1	luminal epithelium:	n/a	n/a
35	REST	chr6:101844461-101844730	GM12878	blood:	n/a	chr6:101844617-101844626 chr6:101844620-101844633 chr6:101844617-101844637 chr6:101844617-101844637 chr6:101844617-101844637 chr6:101844683-101844703 chr6:101844623-101844637 chr6:101844620-101844633 chr6:101844683-101844703 chr6:101844622-101844631 chr6:101844617-101844624 chr6:101844618-101844636
36	REST	chr6:101844372-101844796	A549	lung:	n/a	chr6:101844617-101844626 chr6:101844620-101844633 chr6:101844617-101844637 chr6:101844617-101844637 chr6:101844617-101844637 chr6:101844683-101844703 chr6:101844623-101844637 chr6:101844620-101844633 chr6:101844683-101844703 chr6:101844622-101844631 chr6:101844617-101844624 chr6:101844618-101844636
37	SIN3AK20	chr6:101844496-101844716	PFSK-1	brain:	n/a	n/a
38	TEAD4	chr6:101844443-101844767	H1-hESC	embryonic stem cell:	n/a	n/a
39	REST	chr6:101844095-101845027	A549	lung:	n/a	chr6:101844617-101844626 chr6:101844620-101844633 chr6:101844617-101844637 chr6:101844617-101844637 chr6:101844617-101844637 chr6:101844683-101844703 chr6:101844623-101844637 chr6:101844620-101844633 chr6:101844683-101844703 chr6:101844622-101844631 chr6:101844617-101844624 chr6:101844618-101844636
40	REST	chr6:101844315-101845120	HCT-116	colon:	n/a	chr6:101844617-101844626 chr6:101844620-101844633 chr6:101844617-101844637 chr6:101844617-101844637 chr6:101844617-101844637 chr6:101844683-101844703 chr6:101844623-101844637 chr6:101844620-101844633 chr6:101844683-101844703 chr6:101844622-101844631 chr6:101844617-101844624 chr6:101844618-101844636
41	CTCF	chr6:101844500-101844650	SAEC	small airway:	n/a	n/a
42	TEAD4	chr6:101844473-101844890	ECC-1	luminal epithelium:	n/a	n/a
43	REST	chr6:101844141-101844791	H1-hESC	embryonic stem cell:	n/a	chr6:101844617-101844626 chr6:101844620-101844633 chr6:101844617-101844637 chr6:101844617-101844637 chr6:101844617-101844637 chr6:101844683-101844703 chr6:101844623-101844637 chr6:101844620-101844633 chr6:101844683-101844703 chr6:101844622-101844631 chr6:101844617-101844624 chr6:101844618-101844636
44	REST	chr6:101844323-101844917	HL-60	blood:	n/a	chr6:101844617-101844626 chr6:101844620-101844633 chr6:101844617-101844637 chr6:101844617-101844637 chr6:101844617-101844637 chr6:101844683-101844703 chr6:101844623-101844637 chr6:101844620-101844633 chr6:101844683-101844703 chr6:101844622-101844631 chr6:101844617-101844624 chr6:101844618-101844636
45	TEAD4	chr6:101844413-101844767	HCT-116	colon:	n/a	n/a
46	STAT3	chr6:101844454-101844647	MCF10A-Er-Src	breast:	n/a	n/a
47	REST	chr6:101844119-101845446	ECC-1	luminal epithelium:	n/a	chr6:101844617-101844626 chr6:101844620-101844633 chr6:101844617-101844637 chr6:101844617-101844637 chr6:101844617-101844637 chr6:101844683-101844703 chr6:101844623-101844637 chr6:101844620-101844633 chr6:101844683-101844703 chr6:101844622-101844631 chr6:101844617-101844624 chr6:101845315-101845323 chr6:101844618-101844636
48	REST	chr6:101844373-101845013	HepG2	liver:	n/a	chr6:101844617-101844626 chr6:101844620-101844633 chr6:101844617-101844637 chr6:101844617-101844637 chr6:101844617-101844637 chr6:101844683-101844703 chr6:101844623-101844637 chr6:101844620-101844633 chr6:101844683-101844703 chr6:101844622-101844631 chr6:101844617-101844624 chr6:101844618-101844636
49	REST	chr6:101844389-101844774	H1-hESC	embryonic stem cell:	n/a	chr6:101844617-101844626 chr6:101844620-101844633 chr6:101844617-101844637 chr6:101844617-101844637 chr6:101844617-101844637 chr6:101844683-101844703 chr6:101844623-101844637 chr6:101844620-101844633 chr6:101844683-101844703 chr6:101844622-101844631 chr6:101844617-101844624 chr6:101844618-101844636
50	REST	chr6:101844474-101844749	GM12878	blood:	n/a	chr6:101844617-101844626 chr6:101844620-101844633 chr6:101844617-101844637 chr6:101844617-101844637 chr6:101844617-101844637 chr6:101844683-101844703 chr6:101844623-101844637 chr6:101844620-101844633 chr6:101844683-101844703 chr6:101844622-101844631 chr6:101844617-101844624 chr6:101844618-101844636

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:101839704..101841744-chr6:101842658..101845506,3	K562	blood:

Variant related genes	Relation type
GRIK2	TF binding region

Extended variants
information (count: 65 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs1160258	0.83[ASN][1000 genomes]
rs1415946	0.87[ASW][hapmap];0.81[CEU][hapmap];1.00[GIH][hapmap];0.97[LWK][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes]
rs17658674	0.83[ASN][1000 genomes]
rs1948050	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2518173	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2518319	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2579929	0.97[EUR][1000 genomes]
rs2629982	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2787573	0.97[EUR][1000 genomes]
rs283186	0.86[ASN][1000 genomes]
rs2852497	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2852500	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2852501	0.91[AFR][1000 genomes]
rs2852502	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2852503	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2852504	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2852505	0.97[EUR][1000 genomes]
rs2852506	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2852507	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2852508	0.87[ASW][hapmap];0.81[CEU][hapmap];1.00[GIH][hapmap];0.97[LWK][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes]
rs2852510	0.97[EUR][1000 genomes]
rs2852511	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2852512	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[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2852513	0.97[EUR][1000 genomes]
rs2852514	0.97[EUR][1000 genomes]
rs471631	1.00[ASN][1000 genomes]
rs473846	1.00[ASN][1000 genomes]
rs480221	1.00[ASN][1000 genomes]
rs484819	1.00[ASN][1000 genomes]
rs489458	1.00[ASN][1000 genomes]
rs493123	1.00[ASN][1000 genomes]
rs496596	0.84[EUR][1000 genomes]
rs500305	1.00[ASN][1000 genomes]
rs503387	0.90[EUR][1000 genomes]
rs504406	1.00[ASN][1000 genomes]
rs504408	1.00[ASN][1000 genomes]
rs528879	1.00[ASN][1000 genomes]
rs542820	1.00[ASN][1000 genomes]
rs542923	1.00[ASN][1000 genomes]
rs546327	1.00[ASN][1000 genomes]
rs566507	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs570556	0.84[EUR][1000 genomes]
rs577503	1.00[ASN][1000 genomes]
rs579069	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs584655	1.00[ASN][1000 genomes]
rs594870	1.00[ASN][1000 genomes]
rs600842	1.00[ASN][1000 genomes]
rs608847	1.00[ASN][1000 genomes]
rs632956	0.95[EUR][1000 genomes]
rs636796	1.00[ASN][1000 genomes]
rs638255	1.00[ASN][1000 genomes]
rs661064	0.90[EUR][1000 genomes]
rs662360	0.89[EUR][1000 genomes]
rs662916	1.00[ASN][1000 genomes]
rs668267	1.00[ASN][1000 genomes]
rs675259	0.92[EUR][1000 genomes]
rs683149	1.00[ASN][1000 genomes]
rs684160	1.00[ASN][1000 genomes]
rs685002	1.00[ASN][1000 genomes]
rs687497	0.89[EUR][1000 genomes]
rs697440	1.00[ASN][1000 genomes]
rs697441	1.00[ASN][1000 genomes]
rs808952	1.00[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	nsv1020400	chr6:101172705-101981665	Weak transcription Bivalent/Poised TSS Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv538390	chr6:101172705-101981665	Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:101842000-101845000	Active TSS	Brain Inferior Temporal Lobe	brain
2	chr6:101842200-101846600	Weak transcription	Pancreas	Pancrea
3	chr6:101842200-101849600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr6:101842400-101849600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr6:101842800-101845400	Active TSS	Fetal Brain Female	brain
6	chr6:101842800-101846800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr6:101843200-101846000	Weak transcription	Brain Angular Gyrus	brain
8	chr6:101843200-101846400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr6:101843200-101846600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr6:101843200-101846800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr6:101843600-101846400	Weak transcription	Right Atrium	heart
12	chr6:101843800-101845200	Enhancers	Pancreatic Islets	Pancreatic Islet
13	chr6:101844200-101844600	Bivalent Enhancer	Fetal Brain Male	brain

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