Variant report

Variant	rs11065258
Chromosome Location	chr12:121204003-121204004
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:121202024..121204515-chr12:121206771..121210558,3	K562	blood:
2	chr12:121203090..121205836-chr12:121209356..121211928,2	MCF-7	breast:
3	chr12:121199470..121201795-chr12:121202855..121205373,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000157837	Chromatin interaction

Extended variants
information (count: 87 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:82)

rs_ID	r²[population]
rs1055059	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10849777	0.86[GIH][hapmap];1.00[MEX][hapmap];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10849797	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[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	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11065213	1.00[GIH][hapmap];1.00[MEX][hapmap];0.88[MKK][hapmap];0.85[TSI][hapmap];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11065222	0.83[AMR][1000 genomes]
rs11065226	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11065227	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11065228	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11065253	1.00[CEU][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11065254	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11065260	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11065263	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11065267	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11065275	0.86[CEU][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11065279	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11065281	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11065285	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11065288	1.00[CEU][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11065291	1.00[CEU][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11065294	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11065308	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11065309	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11065315	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11065318	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11065326	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11065328	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11065334	1.00[CEU][hapmap];0.82[YRI][hapmap];1.00[AMR][1000 genomes];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	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][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];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12368617	1.00[ASN][1000 genomes]
rs12370534	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1696358	1.00[ASN][1000 genomes]
rs1696362	0.89[CEU][hapmap];1.00[GIH][hapmap];1.00[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]
rs497457	1.00[CEU][hapmap];1.00[GIH][hapmap];0.87[TSI][hapmap];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs498255	1.00[CEU][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs513940	1.00[ASN][1000 genomes]
rs515784	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs519785	1.00[CEU][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs530162	1.00[CEU][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs554197	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs572009	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs574993	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs581197	1.00[ASN][1000 genomes]
rs581515	1.00[CEU][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs582678	1.00[CEU][hapmap];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs590556	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs591489	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59818945	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61108232	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61414515	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61624288	1.00[ASN][1000 genomes]
rs627211	1.00[CEU][hapmap];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs639343	1.00[CEU][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs645661	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];1.00[ASN][1000 genomes]
rs645786	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs647336	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];1.00[ASN][1000 genomes]
rs648262	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];1.00[ASN][1000 genomes]
rs651156	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs660878	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs671815	1.00[CEU][hapmap];1.00[GIH][hapmap];0.87[TSI][hapmap];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs708784	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs708788	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73409953	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73411916	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73413866	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73413874	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7960932	1.00[ASN][1000 genomes]

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	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	nsv1041153	chr12:121171986-121208826	Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	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
5	nsv976761	chr12:121202272-121210985	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:121195600-121204200	Weak transcription	Stomach Mucosa	stomach
2	chr12:121195600-121207200	Strong transcription	Brain Germinal Matrix	brain
3	chr12:121196400-121207000	Strong transcription	Fetal Brain Female	brain
4	chr12:121196800-121212800	Strong transcription	Primary neutrophils fromperipheralblood	blood
5	chr12:121197000-121207200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr12:121197200-121204200	Weak transcription	Fetal Brain Male	brain
7	chr12:121197200-121210000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr12:121197400-121207000	Strong transcription	Pancreas	Pancrea
9	chr12:121197400-121209800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr12:121197400-121212600	Strong transcription	Thymus	Thymus
11	chr12:121197400-121220000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr12:121197600-121204400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr12:121197600-121205400	Strong transcription	GM12878-XiMat	blood
14	chr12:121197600-121207200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr12:121197600-121210400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr12:121197800-121209000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr12:121197800-121212400	Strong transcription	Liver	Liver
18	chr12:121197800-121220400	Strong transcription	Monocytes-CD14+_RO01746	blood
19	chr12:121198000-121207200	Strong transcription	H9 Cell Line	embryonic stem cell
20	chr12:121198000-121207200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr12:121198000-121212000	Strong transcription	Adipose Nuclei	Adipose
22	chr12:121198200-121204200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr12:121198200-121205600	Strong transcription	Primary B cells from peripheral blood	blood
24	chr12:121198200-121211400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
25	chr12:121198400-121207200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr12:121198400-121209800	Strong transcription	Dnd41	blood
27	chr12:121198400-121212200	Strong transcription	Primary B cells from cord blood	blood
28	chr12:121198400-121220800	Strong transcription	Primary monocytes fromperipheralblood	blood
29	chr12:121198600-121209200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
30	chr12:121198800-121207000	Strong transcription	HUES48 Cell Line	embryonic stem cell
31	chr12:121198800-121209000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr12:121199000-121206800	Strong transcription	Hela-S3	cervix
33	chr12:121199000-121207000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr12:121199000-121207200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr12:121199000-121211600	Strong transcription	Primary T cells fromperipheralblood	blood
36	chr12:121199200-121206600	Strong transcription	NHLF	lung
37	chr12:121199200-121209600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
38	chr12:121199400-121207400	Strong transcription	HUES6 Cell Line	embryonic stem cell
39	chr12:121199400-121207600	Strong transcription	Primary T helper cells fromperipheralblood	blood
40	chr12:121199600-121204600	Strong transcription	Spleen	Spleen
41	chr12:121199600-121207200	Strong transcription	HSMM	muscle
42	chr12:121199600-121207400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
43	chr12:121199800-121207200	Strong transcription	Brain Anterior Caudate	brain
44	chr12:121199800-121211400	Strong transcription	Primary T helper cells PMA-I stimulated	--
45	chr12:121199800-121211800	Weak transcription	Right Atrium	heart
46	chr12:121200000-121207000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr12:121200000-121207000	Strong transcription	Primary T helper naive cells from peripheral blood	blood
48	chr12:121200200-121204400	Weak transcription	Pancreatic Islets	Pancreatic Islet
49	chr12:121200200-121205800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr12:121200200-121207200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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