Variant report

Variant	rs11837673
Chromosome Location	chr12:1693992-1693993
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:1691367..1694313-chr12:1697281..1700440,3	MCF-7	breast:
2	chr12:1693823..1696197-chr12:1697644..1701450,4	MCF-7	breast:
3	chr12:1690515..1695848-chr12:1701447..1705019,7	MCF-7	breast:

Variant related genes	Relation type
ENSG00000171823	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs35466364	0.83[ASN][1000 genomes]
rs58866846	0.90[AFR][1000 genomes]
rs59731311	0.89[ASN][1000 genomes]
rs73030985	0.94[EUR][1000 genomes];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:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:1679600-1697000	Weak transcription	HSMMtube	muscle
2	chr12:1685000-1695000	Weak transcription	Thymus	Thymus
3	chr12:1685200-1698000	Weak transcription	Spleen	Spleen
4	chr12:1685600-1695000	Weak transcription	Primary hematopoietic stem cells	blood
5	chr12:1685600-1699600	Weak transcription	Esophagus	oesophagus
6	chr12:1685800-1699800	Weak transcription	Right Ventricle	heart
7	chr12:1686000-1697000	Weak transcription	Aorta	Aorta
8	chr12:1686000-1698000	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr12:1686400-1696800	Weak transcription	Brain Angular Gyrus	brain
10	chr12:1686400-1698000	Weak transcription	Left Ventricle	heart
11	chr12:1686600-1697000	Weak transcription	Fetal Brain Female	brain
12	chr12:1686600-1697000	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr12:1687000-1699200	Weak transcription	Pancreas	Pancrea
14	chr12:1687000-1699600	Weak transcription	Ovary	ovary
15	chr12:1687200-1695000	Weak transcription	Duodenum Mucosa	Duodenum
16	chr12:1688800-1695400	Weak transcription	Primary B cells from cord blood	blood
17	chr12:1690200-1697000	Weak transcription	Brain Germinal Matrix	brain
18	chr12:1690400-1701000	Weak transcription	Gastric	stomach
19	chr12:1690600-1696600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr12:1690600-1699800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr12:1690800-1695000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr12:1690800-1695600	Weak transcription	Fetal Stomach	stomach
23	chr12:1690800-1699600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr12:1690800-1699800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr12:1691000-1695000	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr12:1691000-1697000	Weak transcription	Fetal Heart	heart
27	chr12:1691000-1698600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr12:1691000-1699800	Weak transcription	Fetal Muscle Trunk	muscle
29	chr12:1691200-1697200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr12:1691200-1699800	Weak transcription	Lung	lung
31	chr12:1691400-1697200	Weak transcription	Fetal Brain Male	brain
32	chr12:1691800-1699600	Weak transcription	Placenta Amnion	Placenta Amnion
33	chr12:1691800-1699800	Weak transcription	Placenta	Placenta
34	chr12:1692400-1694200	Enhancers	Rectal Mucosa Donor 31	rectum
35	chr12:1692600-1699600	Weak transcription	Psoas Muscle	Psoas
36	chr12:1692800-1694200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr12:1692800-1695000	Weak transcription	Brain Hippocampus Middle	brain
38	chr12:1692800-1695200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr12:1692800-1695200	Weak transcription	Fetal Thymus	thymus
40	chr12:1692800-1695600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr12:1692800-1696400	Weak transcription	Brain Cingulate Gyrus	brain
42	chr12:1692800-1696600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr12:1692800-1696600	Weak transcription	Muscle Satellite Cultured Cells	--
44	chr12:1692800-1696800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr12:1692800-1698000	Weak transcription	Right Atrium	heart
46	chr12:1692800-1698800	Weak transcription	Fetal Kidney	kidney
47	chr12:1692800-1699600	Weak transcription	Primary monocytes fromperipheralblood	blood
48	chr12:1692800-1699600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
49	chr12:1693000-1695000	Weak transcription	HSMM	muscle
50	chr12:1693000-1695000	Weak transcription	Monocytes-CD14+_RO01746	blood

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