Variant report

Variant	rs3770953
Chromosome Location	chr2:36597976-36597977
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:36581462..36584625-chr2:36596620..36599809,5	MCF-7	breast:
2	chr2:36582124..36584781-chr2:36595194..36598033,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000260025	Chromatin interaction
ENSG00000150938	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs12623633	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs13389698	0.87[ASN][1000 genomes]
rs13399173	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs13419520	0.82[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs17018693	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs2270329	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3755210	1.00[JPT][hapmap]
rs3755215	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs3770944	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs3770950	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3821161	0.85[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs4670544	0.83[ASN][1000 genomes]
rs6726672	1.00[CHB][hapmap];1.00[JPT][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:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:36586200-36603600	Weak transcription	Brain Germinal Matrix	brain
2	chr2:36586200-36626600	Weak transcription	Primary B cells from cord blood	blood
3	chr2:36590000-36598200	Genic enhancers	Muscle Satellite Cultured Cells	--
4	chr2:36592400-36599800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr2:36592400-36605800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr2:36592800-36598200	Enhancers	NHDF-Ad	bronchial
7	chr2:36593200-36598000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr2:36593200-36598000	Genic enhancers	HSMM	muscle
9	chr2:36593400-36599400	Enhancers	Cortex derived primary cultured neurospheres	brain
10	chr2:36593400-36601800	Enhancers	Fetal Lung	lung
11	chr2:36593600-36598400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr2:36593600-36602400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr2:36593800-36598400	Enhancers	Rectal Mucosa Donor 31	rectum
14	chr2:36594000-36603600	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr2:36594200-36601600	Weak transcription	Fetal Brain Male	brain
16	chr2:36594200-36605400	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr2:36594400-36602000	Enhancers	Fetal Heart	heart
18	chr2:36595200-36606000	Enhancers	HUES64 Cell Line	embryonic stem cell
19	chr2:36595400-36598200	Enhancers	Stomach Smooth Muscle	stomach
20	chr2:36595400-36599800	Weak transcription	Gastric	stomach
21	chr2:36595400-36600200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr2:36595400-36603600	Enhancers	HUES48 Cell Line	embryonic stem cell
23	chr2:36595600-36598200	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr2:36595600-36598200	Enhancers	Adipose Nuclei	Adipose
25	chr2:36595600-36598200	Weak transcription	Colonic Mucosa	Colon
26	chr2:36595600-36598200	Weak transcription	Esophagus	oesophagus
27	chr2:36595600-36598200	Enhancers	Hela-S3	cervix
28	chr2:36595600-36598400	Enhancers	HUES6 Cell Line	embryonic stem cell
29	chr2:36595600-36598400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr2:36595600-36598400	Enhancers	Skeletal Muscle Male	skeletal muscle
31	chr2:36595600-36600600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr2:36595600-36604200	Weak transcription	Fetal Muscle Trunk	muscle
33	chr2:36595600-36604400	Enhancers	Colon Smooth Muscle	Colon
34	chr2:36595800-36598000	Weak transcription	Duodenum Mucosa	Duodenum
35	chr2:36595800-36598000	Weak transcription	Fetal Intestine Large	intestine
36	chr2:36596000-36598000	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr2:36596000-36598200	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr2:36596200-36598200	Weak transcription	Fetal Kidney	kidney
39	chr2:36596200-36598200	Weak transcription	Stomach Mucosa	stomach
40	chr2:36596200-36598800	Enhancers	Brain Hippocampus Middle	brain
41	chr2:36596200-36598800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
42	chr2:36596400-36598000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
43	chr2:36596400-36598800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr2:36596400-36598800	Enhancers	Brain Cingulate Gyrus	brain
45	chr2:36596400-36599200	Enhancers	Brain Inferior Temporal Lobe	brain
46	chr2:36596400-36599400	Enhancers	Brain Anterior Caudate	brain
47	chr2:36596400-36599800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr2:36596400-36600600	Enhancers	Rectal Smooth Muscle	rectum
49	chr2:36596600-36598000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr2:36596600-36598200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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