Variant report

Variant	rs17097002
Chromosome Location	chr12:46940981-46940982
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:46886568..46889250-chr12:46940545..46943079,3	MCF-7	breast:
2	chr12:46775915..46780698-chr12:46939854..46943632,6	K562	blood:
3	chr12:46839274..46841469-chr12:46940549..46942826,2	K562	blood:
4	chr12:46929095..46933419-chr12:46940560..46942504,4	K562	blood:
5	chr12:46763720..46767823-chr12:46939612..46944083,5	K562	blood:
6	chr12:46940433..46942462-chr12:46951225..46953881,2	MCF-7	breast:
7	chr12:46921090..46923425-chr12:46940869..46943856,2	K562	blood:
8	chr12:46765109..46767382-chr12:46939505..46942259,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000257261	Chromatin interaction
ENSG00000272369	Chromatin interaction
ENSG00000258096	Chromatin interaction
ENSG00000134294	Chromatin interaction

Extended variants
information (count: 143 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:138)

rs_ID	r²[population]
rs10785631	1.00[CEU][hapmap]
rs10880975	1.00[CEU][hapmap]
rs10880976	1.00[CEU][hapmap]
rs10880977	1.00[CEU][hapmap]
rs10880980	0.88[EUR][1000 genomes]
rs11183464	1.00[CEU][hapmap]
rs11183497	1.00[CEU][hapmap]
rs11183524	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11183536	0.90[EUR][1000 genomes]
rs11183539	0.83[EUR][1000 genomes]
rs11183547	0.83[EUR][1000 genomes]
rs11183550	0.83[EUR][1000 genomes]
rs11829502	1.00[CEU][hapmap];0.92[YRI][hapmap];0.95[AFR][1000 genomes];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11830099	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11830501	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11831177	1.00[CEU][hapmap];0.87[YRI][hapmap];0.86[AMR][1000 genomes]
rs11831920	1.00[CEU][hapmap];0.93[YRI][hapmap];0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11831929	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11832316	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11833393	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11834607	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11835517	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11835974	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11836915	1.00[CEU][hapmap];0.92[YRI][hapmap];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11836940	1.00[CEU][hapmap];0.96[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11837104	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12300125	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs12305921	1.00[CEU][hapmap]
rs12578813	0.88[EUR][1000 genomes]
rs12579089	0.88[EUR][1000 genomes]
rs12579348	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12579976	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12580092	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12580121	1.00[CEU][hapmap]
rs12580356	0.88[EUR][1000 genomes]
rs12580488	0.85[EUR][1000 genomes]
rs12581311	0.85[EUR][1000 genomes]
rs12581366	0.88[EUR][1000 genomes]
rs12582013	0.85[EUR][1000 genomes]
rs12582056	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs12582476	0.88[EUR][1000 genomes]
rs17096991	1.00[CEU][hapmap];0.96[YRI][hapmap];0.87[AFR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs17096995	1.00[CEU][hapmap];0.96[YRI][hapmap];0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17097009	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17097022	1.00[CEU][hapmap];0.96[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17121410	1.00[CEU][hapmap];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17121412	1.00[CEU][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17594275	0.85[EUR][1000 genomes]
rs17611638	0.88[EUR][1000 genomes]
rs1946175	0.90[EUR][1000 genomes]
rs2042058	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs2193662	0.81[EUR][1000 genomes]
rs2193663	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2216439	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs235601	0.83[EUR][1000 genomes]
rs235602	0.83[EUR][1000 genomes]
rs235607	1.00[CEU][hapmap];0.80[EUR][1000 genomes]
rs235610	0.83[EUR][1000 genomes]
rs235617	1.00[CEU][hapmap]
rs235621	1.00[CEU][hapmap];0.80[EUR][1000 genomes]
rs235622	1.00[CEU][hapmap];0.80[EUR][1000 genomes]
rs235625	0.80[EUR][1000 genomes]
rs235626	1.00[CEU][hapmap];0.80[EUR][1000 genomes]
rs235627	0.80[EUR][1000 genomes]
rs2408576	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2408577	0.90[EUR][1000 genomes]
rs2430937	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2430939	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2430940	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs2430941	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2430942	1.00[CEU][hapmap];0.93[YRI][hapmap];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2430943	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2430946	1.00[CEU][hapmap];0.93[YRI][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2430947	1.00[CEU][hapmap];0.96[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2471581	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2471583	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs2471588	0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2471594	1.00[CEU][hapmap];0.89[YRI][hapmap];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2471601	0.90[EUR][1000 genomes]
rs2471602	1.00[CEU][hapmap];0.92[YRI][hapmap];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2471605	1.00[CEU][hapmap];0.92[YRI][hapmap];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2471608	1.00[CEU][hapmap];0.96[YRI][hapmap];0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2471617	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2471618	1.00[CEU][hapmap];0.92[YRI][hapmap];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs28768973	0.90[EUR][1000 genomes]
rs2897969	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2909411	1.00[CEU][hapmap];0.82[CHB][hapmap];0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2960450	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs34008890	0.80[EUR][1000 genomes]
rs35096979	0.80[EUR][1000 genomes]
rs4073924	0.88[EUR][1000 genomes]
rs4604970	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4768125	0.83[EUR][1000 genomes]
rs4768741	1.00[CEU][hapmap]
rs4768744	1.00[CEU][hapmap]
rs56152575	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs56181923	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs56271434	0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs56399247	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs57158113	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs57370043	0.80[EUR][1000 genomes]
rs57658610	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs58449317	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs58503088	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs58561072	0.80[EUR][1000 genomes]
rs58813899	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs59903937	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs60191997	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs60432604	0.99[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs60669661	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs60681792	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61072098	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61355826	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61641663	0.80[EUR][1000 genomes]
rs6582666	1.00[CEU][hapmap]
rs7138914	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7295471	1.00[CEU][hapmap]
rs7302876	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7308386	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7310326	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73282109	0.80[EUR][1000 genomes]
rs73290381	0.88[EUR][1000 genomes]
rs73290402	0.99[AFR][1000 genomes];0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs73291964	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73291976	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73291980	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73292000	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73292001	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73293911	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73293919	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs74085431	0.86[AMR][1000 genomes]
rs7488464	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs765707	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs766794	0.88[EUR][1000 genomes]
rs7976710	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9669050	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs977069	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs9971651	1.00[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1842882	chr12:46691487-47009428	Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	149 gene(s)	inside rSNPs	diseases
2	nsv1049525	chr12:46721742-47264172	Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
3	nsv541486	chr12:46721742-47264172	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
4	esv3429861	chr12:46762813-46988789	Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	145 gene(s)	inside rSNPs	diseases
5	esv3402095	chr12:46937340-46983181	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:46928400-46948600	Weak transcription	Rectal Smooth Muscle	rectum
2	chr12:46938600-46941800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
3	chr12:46939600-46944200	Enhancers	Skeletal Muscle Female	skeletal muscle
4	chr12:46940000-46941000	Enhancers	Primary hematopoietic stem cells short term culture	blood
5	chr12:46940000-46941600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
6	chr12:46940000-46941800	Enhancers	Primary B cells from peripheral blood	blood
7	chr12:46940000-46942200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
8	chr12:46940000-46942200	Enhancers	Primary T helper cells PMA-I stimulated	--
9	chr12:46940000-46942200	Enhancers	Dnd41	blood
10	chr12:46940000-46942400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr12:46940000-46945600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr12:46940200-46941000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
13	chr12:46940200-46941000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr12:46940200-46941000	Enhancers	Duodenum Mucosa	Duodenum
15	chr12:46940200-46941200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
16	chr12:46940200-46941400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr12:46940200-46941400	Enhancers	Primary B cells from cord blood	blood
18	chr12:46940200-46941600	Enhancers	Primary T helper cells fromperipheralblood	blood
19	chr12:46940200-46941800	Enhancers	Primary T cells fromperipheralblood	blood
20	chr12:46940200-46942000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
21	chr12:46940200-46942000	Enhancers	Fetal Muscle Leg	muscle
22	chr12:46940200-46942200	Enhancers	Primary T helper naive cells from peripheral blood	blood
23	chr12:46940200-46942200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
24	chr12:46940200-46943400	Enhancers	K562	blood
25	chr12:46940200-46944000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr12:46940200-46944200	Enhancers	HSMM	muscle
27	chr12:46940200-46945400	Enhancers	Muscle Satellite Cultured Cells	--
28	chr12:46940200-46950400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr12:46940200-46955000	Enhancers	HMEC	breast
30	chr12:46940400-46941000	Enhancers	Primary monocytes fromperipheralblood	blood
31	chr12:46940400-46941000	Enhancers	Fetal Thymus	thymus
32	chr12:46940400-46941000	Enhancers	Thymus	Thymus
33	chr12:46940400-46941000	Enhancers	Spleen	Spleen
34	chr12:46940400-46941200	Enhancers	Esophagus	oesophagus
35	chr12:46940400-46941600	Enhancers	Primary T killer memory cells from peripheral blood	blood
36	chr12:46940400-46942400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
37	chr12:46940400-46942600	Enhancers	Adipose Nuclei	Adipose
38	chr12:46940400-46942800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr12:46940400-46942800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr12:46940400-46942800	Enhancers	Breast Myoepithelial Primary Cells	Breast
41	chr12:46940400-46943400	Enhancers	Hela-S3	cervix
42	chr12:46940400-46943400	Enhancers	Osteobl	bone
43	chr12:46940400-46944000	Enhancers	HSMMtube	muscle
44	chr12:46940400-46944400	Enhancers	NHLF	lung
45	chr12:46940400-46944600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr12:46940600-46941000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr12:46940600-46941000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr12:46940600-46941000	Flanking Active TSS	NHEK	skin
49	chr12:46940600-46941200	Enhancers	Primary hematopoietic stem cells	blood
50	chr12:46940600-46941600	Enhancers	Skeletal Muscle Male	skeletal muscle

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