Variant report

Variant	rs2030644
Chromosome Location	chr2:36675897-36675898
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:36671394..36673015-chr2:36674870..36676719,2	MCF-7	breast:
2	chr2:36673825..36676793-chr2:36678926..36681242,2	MCF-7	breast:

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs1179502	1.00[CHB][hapmap]
rs17018708	1.00[CHB][hapmap]
rs17018736	1.00[CHB][hapmap];0.81[ASN][1000 genomes]
rs17018822	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs17038831	1.00[CHB][hapmap]
rs17038833	0.82[CHB][hapmap];0.81[ASN][1000 genomes]
rs2058694	0.85[CHD][hapmap];1.00[GIH][hapmap];0.97[ASN][1000 genomes]
rs3755212	1.00[CHB][hapmap]
rs3755213	0.81[ASN][1000 genomes]
rs3755217	1.00[CHB][hapmap]
rs3770877	1.00[CHB][hapmap]
rs3770878	0.97[ASN][1000 genomes]
rs3770894	1.00[CHB][hapmap];0.95[ASN][1000 genomes]
rs3770915	0.83[ASN][1000 genomes]
rs3770916	1.00[CHB][hapmap];0.81[ASN][1000 genomes]
rs3770921	0.81[ASN][1000 genomes]
rs3770924	0.82[CHB][hapmap]
rs3821159	0.90[ASN][1000 genomes]
rs4141687	1.00[CHB][hapmap];0.85[JPT][hapmap];0.83[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs711254	1.00[CHB][hapmap]
rs848511	1.00[CHB][hapmap]
rs848512	1.00[CHB][hapmap];0.81[ASN][1000 genomes]
rs860232	1.00[CHB][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833803	chr2:36589065-36745779	Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 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	chr2:36640200-36680000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr2:36650600-36676600	Weak transcription	Stomach Mucosa	stomach
3	chr2:36651800-36686800	Weak transcription	Colonic Mucosa	Colon
4	chr2:36660600-36682600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr2:36660600-36683000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr2:36660800-36678000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr2:36660800-36695600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr2:36661400-36676400	Weak transcription	Brain Cingulate Gyrus	brain
9	chr2:36661600-36683000	Genic enhancers	HUVEC	blood vessel
10	chr2:36666200-36681200	Genic enhancers	Osteobl	bone
11	chr2:36666400-36676200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr2:36666400-36676400	Weak transcription	Pancreas	Pancrea
13	chr2:36666400-36686800	Weak transcription	Gastric	stomach
14	chr2:36666600-36683400	Genic enhancers	NHLF	lung
15	chr2:36666800-36676600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr2:36668000-36676600	Weak transcription	Fetal Heart	heart
17	chr2:36668200-36676400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr2:36668200-36677200	Strong transcription	Hela-S3	cervix
19	chr2:36668200-36678400	Weak transcription	Small Intestine	intestine
20	chr2:36668600-36677400	Strong transcription	Rectal Mucosa Donor 31	rectum
21	chr2:36668800-36676000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr2:36668800-36676600	Strong transcription	Placenta	Placenta
23	chr2:36668800-36690200	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
24	chr2:36669000-36676200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr2:36669200-36676200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr2:36669200-36676200	Strong transcription	HMEC	breast
27	chr2:36669200-36688200	Weak transcription	Thymus	Thymus
28	chr2:36669400-36688000	Weak transcription	Fetal Thymus	thymus
29	chr2:36669600-36683800	Weak transcription	Brain Germinal Matrix	brain
30	chr2:36669800-36677000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr2:36669800-36679800	Weak transcription	Primary B cells from peripheral blood	blood
32	chr2:36670000-36676400	Strong transcription	HSMMtube	muscle
33	chr2:36670000-36677600	Strong transcription	Primary B cells from cord blood	blood
34	chr2:36670000-36678800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr2:36670000-36682200	Genic enhancers	NHDF-Ad	bronchial
36	chr2:36670000-36688200	Weak transcription	Primary T cells from cord blood	blood
37	chr2:36670400-36676400	Weak transcription	Right Ventricle	heart
38	chr2:36670400-36682600	Weak transcription	Brain Substantia Nigra	brain
39	chr2:36670400-36683000	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr2:36670800-36676000	Strong transcription	HSMM	muscle
41	chr2:36670800-36677200	Weak transcription	Fetal Brain Male	brain
42	chr2:36670800-36679000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
43	chr2:36670800-36682000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr2:36670800-36682800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
45	chr2:36671000-36676200	Weak transcription	Rectal Smooth Muscle	rectum
46	chr2:36671000-36678200	Weak transcription	Fetal Brain Female	brain
47	chr2:36671200-36682600	Weak transcription	Brain Hippocampus Middle	brain
48	chr2:36671400-36677200	Weak transcription	H9 Cell Line	embryonic stem cell
49	chr2:36671400-36677600	Weak transcription	Duodenum Smooth Muscle	Duodenum
50	chr2:36672200-36676400	Weak transcription	Brain Anterior Caudate	brain

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