Variant report

Variant	rs12097682
Chromosome Location	chr1:169333438-169333439
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:169331328..169334287-chr1:169334911..169337205,2	MCF-7	breast:
2	chr1:169324847..169326824-chr1:169332989..169335675,2	K562	blood:
3	chr1:169332852..169334456-chr1:169336922..169338977,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000143156	Chromatin interaction
ENSG00000117475	Chromatin interaction

Extended variants
information (count: 78 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:71)

rs_ID	r²[population]
rs10047168	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10800418	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10800430	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];1.00[EUR][1000 genomes]
rs10800436	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10800443	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10800445	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10919079	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs10919097	0.82[EUR][1000 genomes]
rs10919098	0.82[EUR][1000 genomes]
rs10919100	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.82[EUR][1000 genomes]
rs10919104	0.82[EUR][1000 genomes]
rs10919111	0.82[EUR][1000 genomes]
rs10919131	0.91[EUR][1000 genomes]
rs10919151	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10919152	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10919156	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10919157	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10919159	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11487548	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11802239	0.82[EUR][1000 genomes]
rs11805562	1.00[EUR][1000 genomes]
rs11807896	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11810815	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12058325	1.00[EUR][1000 genomes]
rs12059944	1.00[CEU][hapmap];0.89[CHB][hapmap];0.86[JPT][hapmap];0.84[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs12061069	0.97[EUR][1000 genomes]
rs12061080	1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12061405	0.82[EUR][1000 genomes]
rs12063056	0.97[EUR][1000 genomes]
rs12063719	0.97[EUR][1000 genomes]
rs12063863	0.97[EUR][1000 genomes]
rs12065030	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes]
rs12067139	0.97[EUR][1000 genomes]
rs12067351	1.00[EUR][1000 genomes]
rs12070031	0.82[EUR][1000 genomes]
rs12071630	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs12073439	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[EUR][1000 genomes]
rs12074013	1.00[CEU][hapmap];1.00[YRI][hapmap];0.82[EUR][1000 genomes]
rs12074966	0.92[ASN][1000 genomes]
rs12076519	1.00[EUR][1000 genomes]
rs12080100	1.00[CHB][hapmap];0.86[JPT][hapmap]
rs12081030	1.00[CEU][hapmap];1.00[YRI][hapmap];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12081562	0.82[EUR][1000 genomes]
rs12088672	0.97[EUR][1000 genomes]
rs12091133	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12091844	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs12092506	0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12092952	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12094791	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12097260	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12561922	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes]
rs12565852	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2275300	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2280257	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2901092	1.00[YRI][hapmap];0.84[AFR][1000 genomes]
rs3737683	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs3753298	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.82[EUR][1000 genomes]
rs3765227	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs3766052	0.82[EUR][1000 genomes]
rs3766064	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs3766077	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs3766082	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes]
rs3766088	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes]
rs3766092	1.00[EUR][1000 genomes]
rs3820057	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];1.00[YRI][hapmap];0.82[EUR][1000 genomes]
rs41272453	0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs57776592	0.97[EUR][1000 genomes]
rs60011235	0.97[EUR][1000 genomes]
rs7515326	0.97[EUR][1000 genomes]
rs7544446	0.97[EUR][1000 genomes]
rs9628661	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3522071	chr1:168978325-169339044	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
2	esv3522072	chr1:168978325-169339044	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' Weak transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
3	esv10418	chr1:169059628-169621268	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
4	nsv1010010	chr1:169189586-169347545	Active TSS Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv872531	chr1:169191860-169388193	Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv872532	chr1:169275630-169363203	Strong transcription Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
7	nsv831871	chr1:169320673-169486680	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:169270200-169336400	Weak transcription	Stomach Smooth Muscle	stomach
2	chr1:169305600-169336400	Weak transcription	Left Ventricle	heart
3	chr1:169309200-169333600	Weak transcription	Primary hematopoietic stem cells	blood
4	chr1:169309400-169336400	Weak transcription	Ovary	ovary
5	chr1:169311000-169336400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr1:169316000-169334200	Weak transcription	Fetal Intestine Small	intestine
7	chr1:169317000-169336400	Weak transcription	Pancreas	Pancrea
8	chr1:169317200-169333800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr1:169317800-169333800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr1:169317800-169335800	Weak transcription	Fetal Lung	lung
11	chr1:169318200-169334000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr1:169324600-169335800	Weak transcription	Primary T cells from cord blood	blood
13	chr1:169325600-169335800	Weak transcription	K562	blood
14	chr1:169326200-169334200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr1:169327200-169335800	Weak transcription	Small Intestine	intestine
16	chr1:169327200-169336200	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr1:169330000-169336400	Weak transcription	Psoas Muscle	Psoas
18	chr1:169330800-169335800	Weak transcription	Brain Hippocampus Middle	brain
19	chr1:169330800-169336400	Weak transcription	Right Ventricle	heart
20	chr1:169331400-169335800	Weak transcription	Fetal Intestine Large	intestine
21	chr1:169331600-169335600	Enhancers	HMEC	breast
22	chr1:169331800-169333600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
23	chr1:169331800-169335800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr1:169331800-169336200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr1:169332000-169333600	Enhancers	Primary T helper naive cells from peripheral blood	blood
26	chr1:169332000-169334400	Enhancers	NHEK	skin
27	chr1:169332000-169335800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
28	chr1:169332200-169334200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
29	chr1:169332200-169336400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr1:169332800-169334600	Enhancers	Placenta	Placenta
31	chr1:169332800-169334800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr1:169332800-169336400	Weak transcription	Fetal Muscle Trunk	muscle
33	chr1:169333000-169333600	Enhancers	GM12878-XiMat	blood
34	chr1:169333000-169334000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
35	chr1:169333000-169334400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr1:169333000-169336000	Weak transcription	NHDF-Ad	bronchial
37	chr1:169333000-169336200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr1:169333000-169336200	Weak transcription	Placenta Amnion	Placenta Amnion
39	chr1:169333000-169336200	Weak transcription	Thymus	Thymus
40	chr1:169333200-169333600	Enhancers	NH-A	brain
41	chr1:169333200-169334200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr1:169333200-169334200	Weak transcription	Dnd41	blood
43	chr1:169333200-169334400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr1:169333200-169335800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
45	chr1:169333200-169335800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr1:169333200-169335800	Weak transcription	NHLF	lung
47	chr1:169333200-169336000	Weak transcription	Primary T helper cells fromperipheralblood	blood
48	chr1:169333200-169336200	Weak transcription	Primary T cells fromperipheralblood	blood
49	chr1:169333200-169336200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
50	chr1:169333200-169336200	Weak transcription	Fetal Stomach	stomach

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links