Variant report

Variant	rs67017750
Chromosome Location	chr12:1690271-1690272
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:1686155..1688977-chr12:1689478..1691002,2	MCF-7	breast:

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs11061910	1.00[ASN][1000 genomes]
rs12816304	1.00[ASN][1000 genomes]
rs12818971	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12822334	1.00[ASN][1000 genomes]
rs12827353	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12827787	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12828057	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16928611	1.00[ASN][1000 genomes]
rs16928615	1.00[ASN][1000 genomes]
rs34162487	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35158962	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35177332	1.00[ASN][1000 genomes]
rs35245056	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35316910	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35391324	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35444259	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35538655	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35710824	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35910263	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56089042	1.00[ASN][1000 genomes]
rs56110457	1.00[ASN][1000 genomes]
rs56832868	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61914792	1.00[ASN][1000 genomes]
rs61914793	1.00[ASN][1000 genomes]
rs61914794	1.00[ASN][1000 genomes]
rs6489317	1.00[ASN][1000 genomes]
rs71454830	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71454831	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7307418	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1045278	chr12:920251-1697030	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
2	nsv529398	chr12:941915-1741311	Weak transcription Strong transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv1042863	chr12:1163817-1902302	Enhancers Genic enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS 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 miRNA target site	46 gene(s)	inside rSNPs	diseases
4	nsv541345	chr12:1163817-1902302	Strong transcription Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
5	esv3397478	chr12:1535455-1730159	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
6	nsv898584	chr12:1607390-1783251	Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
7	nsv826180	chr12:1614395-1759431	Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
8	nsv826181	chr12:1619798-1754941	Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
9	nsv470258	chr12:1670493-1698010	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
10	nsv898586	chr12:1690140-1734365	Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:1651000-1690400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr12:1673000-1692600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr12:1674400-1692600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr12:1675000-1692000	Weak transcription	HSMM	muscle
5	chr12:1675800-1692600	Weak transcription	Brain Substantia Nigra	brain
6	chr12:1679600-1697000	Weak transcription	HSMMtube	muscle
7	chr12:1680800-1692400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr12:1685000-1695000	Weak transcription	Thymus	Thymus
9	chr12:1685200-1690600	Weak transcription	GM12878-XiMat	blood
10	chr12:1685200-1698000	Weak transcription	Spleen	Spleen
11	chr12:1685600-1690600	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr12:1685600-1695000	Weak transcription	Primary hematopoietic stem cells	blood
13	chr12:1685600-1699600	Weak transcription	Esophagus	oesophagus
14	chr12:1685800-1692600	Weak transcription	Brain Anterior Caudate	brain
15	chr12:1685800-1699800	Weak transcription	Right Ventricle	heart
16	chr12:1686000-1692600	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr12:1686000-1693000	Enhancers	NHDF-Ad	bronchial
18	chr12:1686000-1697000	Weak transcription	Aorta	Aorta
19	chr12:1686000-1698000	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr12:1686400-1690400	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr12:1686400-1693000	Weak transcription	Colonic Mucosa	Colon
22	chr12:1686400-1696800	Weak transcription	Brain Angular Gyrus	brain
23	chr12:1686400-1698000	Weak transcription	Left Ventricle	heart
24	chr12:1686600-1690400	Weak transcription	Lung	lung
25	chr12:1686600-1690600	Weak transcription	Adipose Nuclei	Adipose
26	chr12:1686600-1691600	Weak transcription	Colon Smooth Muscle	Colon
27	chr12:1686600-1692400	Weak transcription	Brain Hippocampus Middle	brain
28	chr12:1686600-1692400	Enhancers	Osteobl	bone
29	chr12:1686600-1692600	Weak transcription	Primary T cells fromperipheralblood	blood
30	chr12:1686600-1692600	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr12:1686600-1697000	Weak transcription	Fetal Brain Female	brain
32	chr12:1686600-1697000	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr12:1687000-1690400	Weak transcription	Fetal Muscle Trunk	muscle
34	chr12:1687000-1690800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr12:1687000-1692000	Weak transcription	Rectal Smooth Muscle	rectum
36	chr12:1687000-1692400	Weak transcription	Fetal Intestine Small	intestine
37	chr12:1687000-1692400	Weak transcription	Right Atrium	heart
38	chr12:1687000-1692400	Weak transcription	Stomach Smooth Muscle	stomach
39	chr12:1687000-1693600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr12:1687000-1699200	Weak transcription	Pancreas	Pancrea
41	chr12:1687000-1699600	Weak transcription	Ovary	ovary
42	chr12:1687200-1690400	Weak transcription	Rectal Mucosa Donor 31	rectum
43	chr12:1687200-1692600	Weak transcription	Liver	Liver
44	chr12:1687200-1695000	Weak transcription	Duodenum Mucosa	Duodenum
45	chr12:1687400-1692400	Weak transcription	Fetal Intestine Large	intestine
46	chr12:1687800-1692600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr12:1688000-1690600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr12:1688000-1690600	Enhancers	NHLF	lung
49	chr12:1688400-1692400	Weak transcription	Primary B cells from peripheral blood	blood
50	chr12:1688600-1691200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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