Variant report

Variant	rs55773654
Chromosome Location	chr12:1695677-1695678
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:1694159..1696400-chr12:1697880..1699640,2	K562	blood:
2	chr12:1695042..1697076-chr12:1701660..1703823,2	MCF-7	breast:
3	chr12:1694282..1696400-chr12:1697467..1699380,2	K562	blood:
4	chr12:1693823..1696197-chr12:1697644..1701450,4	MCF-7	breast:
5	chr12:1690515..1695848-chr12:1701447..1705019,7	MCF-7	breast:

Variant related genes	Relation type
ENSG00000171823	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs1476709	0.80[EUR][1000 genomes]
rs35524129	0.80[EUR][1000 genomes]
rs3741975	0.86[EUR][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:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:1679600-1697000	Weak transcription	HSMMtube	muscle
2	chr12:1685200-1698000	Weak transcription	Spleen	Spleen
3	chr12:1685600-1699600	Weak transcription	Esophagus	oesophagus
4	chr12:1685800-1699800	Weak transcription	Right Ventricle	heart
5	chr12:1686000-1697000	Weak transcription	Aorta	Aorta
6	chr12:1686000-1698000	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr12:1686400-1696800	Weak transcription	Brain Angular Gyrus	brain
8	chr12:1686400-1698000	Weak transcription	Left Ventricle	heart
9	chr12:1686600-1697000	Weak transcription	Fetal Brain Female	brain
10	chr12:1686600-1697000	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr12:1687000-1699200	Weak transcription	Pancreas	Pancrea
12	chr12:1687000-1699600	Weak transcription	Ovary	ovary
13	chr12:1690200-1697000	Weak transcription	Brain Germinal Matrix	brain
14	chr12:1690400-1701000	Weak transcription	Gastric	stomach
15	chr12:1690600-1696600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr12:1690600-1699800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr12:1690800-1699600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr12:1690800-1699800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr12:1691000-1697000	Weak transcription	Fetal Heart	heart
20	chr12:1691000-1698600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr12:1691000-1699800	Weak transcription	Fetal Muscle Trunk	muscle
22	chr12:1691200-1697200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr12:1691200-1699800	Weak transcription	Lung	lung
24	chr12:1691400-1697200	Weak transcription	Fetal Brain Male	brain
25	chr12:1691800-1699600	Weak transcription	Placenta Amnion	Placenta Amnion
26	chr12:1691800-1699800	Weak transcription	Placenta	Placenta
27	chr12:1692600-1699600	Weak transcription	Psoas Muscle	Psoas
28	chr12:1692800-1696400	Weak transcription	Brain Cingulate Gyrus	brain
29	chr12:1692800-1696600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr12:1692800-1696600	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr12:1692800-1696800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr12:1692800-1698000	Weak transcription	Right Atrium	heart
33	chr12:1692800-1698800	Weak transcription	Fetal Kidney	kidney
34	chr12:1692800-1699600	Weak transcription	Primary monocytes fromperipheralblood	blood
35	chr12:1692800-1699600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
36	chr12:1693000-1696600	Weak transcription	Primary T helper cells PMA-I stimulated	--
37	chr12:1693000-1696600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
38	chr12:1693000-1696600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr12:1693000-1696600	Weak transcription	Brain Anterior Caudate	brain
40	chr12:1693000-1696600	Weak transcription	GM12878-XiMat	blood
41	chr12:1693000-1696600	Weak transcription	NH-A	brain
42	chr12:1693000-1696600	Weak transcription	NHDF-Ad	bronchial
43	chr12:1693000-1696800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
44	chr12:1693000-1696800	Weak transcription	Pancreatic Islets	Pancreatic Islet
45	chr12:1693000-1697000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
46	chr12:1693000-1697000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
47	chr12:1693000-1697000	Weak transcription	Fetal Lung	lung
48	chr12:1693000-1697000	Weak transcription	Skeletal Muscle Male	skeletal muscle
49	chr12:1693000-1697000	Weak transcription	Stomach Smooth Muscle	stomach
50	chr12:1693000-1697000	Weak transcription	NHEK	skin

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