Variant report

Variant	rs497457
Chromosome Location	chr12:121255607-121255608
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:121249369..121251387-chr12:121254840..121256936,2	MCF-7	breast:
2	chr12:121242413..121245206-chr12:121254245..121256019,2	MCF-7	breast:
3	chr12:121254206..121257153-chr12:121257780..121260885,3	MCF-7	breast:
4	chr12:121253695..121256191-chr12:121282485..121284244,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000213137	Chromatin interaction

Extended variants
information (count: 85 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:81)

rs_ID	r²[population]
rs1055059	1.00[ASN][1000 genomes]
rs10849777	0.86[GIH][hapmap];1.00[ASN][1000 genomes]
rs10849797	1.00[CEU][hapmap];1.00[GIH][hapmap];0.87[TSI][hapmap];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11065179	1.00[ASN][1000 genomes]
rs11065201	1.00[ASN][1000 genomes]
rs11065207	1.00[ASN][1000 genomes]
rs11065210	1.00[ASN][1000 genomes]
rs11065213	1.00[GIH][hapmap];1.00[ASN][1000 genomes]
rs11065226	1.00[ASN][1000 genomes]
rs11065227	1.00[ASN][1000 genomes]
rs11065228	1.00[ASN][1000 genomes]
rs11065253	1.00[CEU][hapmap];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11065254	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11065258	1.00[CEU][hapmap];1.00[GIH][hapmap];0.87[TSI][hapmap];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11065260	1.00[CEU][hapmap];1.00[GIH][hapmap];0.87[TSI][hapmap];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11065267	1.00[CEU][hapmap];1.00[GIH][hapmap];0.87[TSI][hapmap];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11065275	0.86[CEU][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11065279	1.00[CEU][hapmap];1.00[GIH][hapmap];0.87[TSI][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11065281	0.88[EUR][1000 genomes]
rs11065285	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11065288	1.00[CEU][hapmap];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11065291	1.00[CEU][hapmap];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11065294	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11065308	1.00[ASN][1000 genomes]
rs11065309	1.00[ASN][1000 genomes]
rs11065315	1.00[CEU][hapmap];1.00[ASN][1000 genomes]
rs11065318	1.00[ASN][1000 genomes]
rs11065326	1.00[ASN][1000 genomes]
rs11065328	1.00[ASN][1000 genomes]
rs11065334	1.00[CEU][hapmap];1.00[ASN][1000 genomes]
rs11065347	1.00[ASN][1000 genomes]
rs11065353	1.00[ASN][1000 genomes]
rs1151854	0.82[CEU][hapmap];1.00[ASN][1000 genomes]
rs1151855	1.00[ASN][1000 genomes]
rs1151860	0.83[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];0.87[TSI][hapmap];0.89[YRI][hapmap];1.00[ASN][1000 genomes]
rs1151865	1.00[CEU][hapmap];1.00[ASN][1000 genomes]
rs1186042	1.00[ASN][1000 genomes]
rs12366451	1.00[CEU][hapmap];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12368617	1.00[ASN][1000 genomes]
rs12370534	1.00[ASN][1000 genomes]
rs1696358	1.00[ASN][1000 genomes]
rs1696362	0.89[CEU][hapmap];1.00[GIH][hapmap];0.87[TSI][hapmap]
rs1718207	1.00[ASN][1000 genomes]
rs1732397	1.00[CEU][hapmap];1.00[ASN][1000 genomes]
rs1732399	1.00[ASN][1000 genomes]
rs2454728	1.00[ASN][1000 genomes]
rs2701179	1.00[ASN][1000 genomes]
rs498255	1.00[CEU][hapmap];0.88[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs513940	0.89[YRI][hapmap];1.00[ASN][1000 genomes]
rs515784	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs519785	1.00[CEU][hapmap];0.84[YRI][hapmap];0.80[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs530162	1.00[CEU][hapmap];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs554197	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs572009	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs574993	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.87[TSI][hapmap];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs581197	1.00[ASN][1000 genomes]
rs581515	0.83[ASW][hapmap];1.00[CEU][hapmap];0.86[LWK][hapmap];0.89[YRI][hapmap];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs582678	1.00[CEU][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs590556	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs591489	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59818945	1.00[ASN][1000 genomes]
rs61108232	1.00[ASN][1000 genomes]
rs61414515	1.00[ASN][1000 genomes]
rs61624288	1.00[ASN][1000 genomes]
rs626103	0.87[AMR][1000 genomes]
rs627211	1.00[CEU][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs639343	1.00[CEU][hapmap];0.89[YRI][hapmap];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs645661	1.00[CEU][hapmap];1.00[GIH][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.87[TSI][hapmap];0.89[YRI][hapmap];1.00[ASN][1000 genomes]
rs645786	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs647336	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.87[TSI][hapmap];1.00[ASN][1000 genomes]
rs648262	1.00[CEU][hapmap];1.00[GIH][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.87[TSI][hapmap];0.85[YRI][hapmap];1.00[ASN][1000 genomes]
rs651156	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs660878	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs671815	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][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]
rs708784	0.83[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.98[LWK][hapmap];0.89[YRI][hapmap];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs708788	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.87[TSI][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73409953	1.00[ASN][1000 genomes]
rs73411916	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73413866	1.00[ASN][1000 genomes]
rs73413874	1.00[ASN][1000 genomes]
rs7960932	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv521928	chr12:121041728-121761800	Genic enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
2	nsv1037070	chr12:121069938-121459047	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv560438	chr12:121194565-121352206	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	nsv1045178	chr12:121231461-121271734	Enhancers Genic enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:121211400-121260800	Weak transcription	Gastric	stomach
2	chr12:121222200-121274000	Weak transcription	Lung	lung
3	chr12:121222600-121259000	Weak transcription	Ovary	ovary
4	chr12:121222600-121260800	Weak transcription	Spleen	Spleen
5	chr12:121222600-121268600	Weak transcription	Esophagus	oesophagus
6	chr12:121222600-121268600	Weak transcription	Stomach Smooth Muscle	stomach
7	chr12:121234000-121264200	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr12:121234600-121263000	Weak transcription	A549	lung
9	chr12:121236400-121259000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
10	chr12:121239200-121260600	Weak transcription	Right Atrium	heart
11	chr12:121240800-121260800	Weak transcription	Small Intestine	intestine
12	chr12:121241000-121261200	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr12:121241200-121258400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr12:121241200-121259000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr12:121241800-121255800	Weak transcription	Primary T cells from cord blood	blood
16	chr12:121241800-121260800	Weak transcription	Thymus	Thymus
17	chr12:121242400-121259000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
18	chr12:121242600-121256400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
19	chr12:121244800-121264000	Weak transcription	Aorta	Aorta
20	chr12:121248000-121264400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr12:121248000-121265200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr12:121248200-121267200	Weak transcription	Fetal Stomach	stomach
23	chr12:121248200-121272200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr12:121248400-121266800	Weak transcription	Fetal Intestine Large	intestine
25	chr12:121248600-121255800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr12:121248600-121260200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
27	chr12:121248600-121267200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr12:121248800-121256000	Weak transcription	HUES64 Cell Line	embryonic stem cell
29	chr12:121248800-121259000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
30	chr12:121248800-121260600	Weak transcription	Fetal Thymus	thymus
31	chr12:121248800-121268600	Weak transcription	Primary T cells fromperipheralblood	blood
32	chr12:121248800-121270400	Weak transcription	Primary B cells from cord blood	blood
33	chr12:121248800-121271600	Weak transcription	Primary monocytes fromperipheralblood	blood
34	chr12:121248800-121271800	Weak transcription	Dnd41	blood
35	chr12:121249600-121259000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr12:121250800-121266600	Weak transcription	Primary B cells from peripheral blood	blood
37	chr12:121253000-121255800	Weak transcription	Fetal Lung	lung
38	chr12:121253000-121256000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
39	chr12:121253000-121256800	Weak transcription	Pancreatic Islets	Pancreatic Islet
40	chr12:121253000-121257000	Weak transcription	Primary T helper cells fromperipheralblood	blood
41	chr12:121253000-121260400	Weak transcription	HUES48 Cell Line	embryonic stem cell
42	chr12:121253200-121260600	Weak transcription	Fetal Kidney	kidney
43	chr12:121253800-121268600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
44	chr12:121254000-121258800	Weak transcription	GM12878-XiMat	blood
45	chr12:121254000-121268600	Weak transcription	Skeletal Muscle Male	skeletal muscle
46	chr12:121254800-121258000	Enhancers	Brain Hippocampus Middle	brain
47	chr12:121255000-121255800	Enhancers	Brain Angular Gyrus	brain
48	chr12:121255000-121256000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr12:121255000-121256000	Enhancers	Brain Anterior Caudate	brain
50	chr12:121255000-121257200	Enhancers	Cortex derived primary cultured neurospheres	brain

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