Variant report

Variant	rs997602
Chromosome Location	chr2:36599856-36599857
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	chr2:36598192..36600031-chr2:36601938..36604063,3	MCF-7	breast:

Extended variants
information (count: 30 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10167894	1.00[ASN][1000 genomes]
rs10178804	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs10186135	1.00[CHB][hapmap]
rs10192912	1.00[ASN][1000 genomes]
rs10203010	1.00[CHB][hapmap]
rs11124514	1.00[CHB][hapmap]
rs11124515	1.00[CHB][hapmap]
rs1159133	1.00[CHB][hapmap]
rs11885395	1.00[ASN][1000 genomes]
rs11898050	1.00[ASN][1000 genomes]
rs12465282	1.00[CHB][hapmap]
rs12465297	1.00[CHB][hapmap]
rs12477836	1.00[CHB][hapmap]
rs12712500	1.00[ASN][1000 genomes]
rs13394052	1.00[CHB][hapmap]
rs13407488	1.00[CHB][hapmap]
rs17480064	1.00[ASN][1000 genomes]
rs3755214	1.00[CHB][hapmap]
rs3770932	1.00[CHB][hapmap]
rs3770936	1.00[CHB][hapmap]
rs4233914	1.00[CHB][hapmap]
rs4670545	1.00[ASN][1000 genomes]
rs4670547	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs4670554	1.00[CHB][hapmap]
rs55653640	1.00[ASN][1000 genomes]
rs6711707	1.00[CHB][hapmap]
rs7589917	1.00[CHB][hapmap]
rs9308991	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs9308992	1.00[CHB][hapmap];1.00[ASN][1000 genomes]

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:99 , 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	chr2:36592400-36605800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr2:36593400-36601800	Enhancers	Fetal Lung	lung
5	chr2:36593600-36602400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr2:36594000-36603600	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr2:36594200-36601600	Weak transcription	Fetal Brain Male	brain
8	chr2:36594200-36605400	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr2:36594400-36602000	Enhancers	Fetal Heart	heart
10	chr2:36595200-36606000	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr2:36595400-36600200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr2:36595400-36603600	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr2:36595600-36600600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr2:36595600-36604200	Weak transcription	Fetal Muscle Trunk	muscle
15	chr2:36595600-36604400	Enhancers	Colon Smooth Muscle	Colon
16	chr2:36596400-36600600	Enhancers	Rectal Smooth Muscle	rectum
17	chr2:36596600-36600600	Weak transcription	Fetal Brain Female	brain
18	chr2:36596600-36603200	Enhancers	HepG2	liver
19	chr2:36597000-36603400	Enhancers	iPS-20b Cell Line	embryonic stem cell
20	chr2:36597200-36600200	Weak transcription	Spleen	Spleen
21	chr2:36597200-36600600	Flanking Active TSS	A549	lung
22	chr2:36597400-36600800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
23	chr2:36597400-36601200	Enhancers	Fetal Intestine Small	intestine
24	chr2:36598000-36600000	Flanking Active TSS	NHEK	skin
25	chr2:36598000-36600400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr2:36598000-36600600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr2:36598000-36600800	Enhancers	Fetal Intestine Large	intestine
28	chr2:36598000-36601000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr2:36598000-36601000	Enhancers	Duodenum Mucosa	Duodenum
30	chr2:36598000-36601000	Enhancers	Duodenum Smooth Muscle	Duodenum
31	chr2:36598000-36601000	Enhancers	Ovary	ovary
32	chr2:36598000-36601000	Enhancers	Right Ventricle	heart
33	chr2:36598000-36602000	Enhancers	Small Intestine	intestine
34	chr2:36598200-36600000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
35	chr2:36598200-36600600	Enhancers	Fetal Kidney	kidney
36	chr2:36598200-36600800	Enhancers	Fetal Stomach	stomach
37	chr2:36598200-36601000	Enhancers	Aorta	Aorta
38	chr2:36598200-36601000	Enhancers	Right Atrium	heart
39	chr2:36598200-36601000	Flanking Active TSS	Hela-S3	cervix
40	chr2:36598200-36601200	Enhancers	Stomach Mucosa	stomach
41	chr2:36598200-36601400	Enhancers	Fetal Muscle Leg	muscle
42	chr2:36598200-36602600	Enhancers	H1 Cell Line	embryonic stem cell
43	chr2:36598400-36600400	Weak transcription	Fetal Thymus	thymus
44	chr2:36598400-36603800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr2:36598600-36600200	Weak transcription	Pancreas	Pancrea
46	chr2:36598600-36600200	Enhancers	Rectal Mucosa Donor 29	rectum
47	chr2:36598600-36600600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr2:36598600-36600600	Weak transcription	Lung	lung
49	chr2:36598600-36601200	Enhancers	Adipose Nuclei	Adipose
50	chr2:36598600-36601800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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