Variant report

Variant	rs10201596
Chromosome Location	chr2:20248349-20248350
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CHD1	chr2:20247605-20252898	IMR90	lung:	n/a	n/a
2	GATA3	chr2:20248174-20249013	SH-SY5Y	brain:	n/a	chr2:20248330-20248337 chr2:20248801-20248808
3	MXI1	chr2:20247504-20253370	SK-N-SH	brain:	n/a	n/a
4	NFYA	chr2:20248252-20248677	GM12878	blood:	n/a	n/a
5	CEBPB	chr2:20248346-20248833	IMR90	lung:	n/a	chr2:20248652-20248663
6	CEBPB	chr2:20248326-20248784	K562	blood:	n/a	chr2:20248652-20248663

No.	Distal block	Cell Line	Cell type
1	chr2:20208645..20229804-chr2:20247969..20254330,37	MCF-7	breast:
2	chr2:20246745..20249019-chr2:20548849..20550388,2	MCF-7	breast:
3	chr2:20223805..20226638-chr2:20247959..20250550,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000223734	TF binding region
ENSG00000132031	Chromatin interaction
ENSG00000055917	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11096636	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13406536	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs16987337	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16987357	1.00[CEU][hapmap];0.82[CHB][hapmap]
rs16987368	1.00[CEU][hapmap];0.82[CHB][hapmap]
rs16987372	1.00[CEU][hapmap]
rs2881878	1.00[CEU][hapmap];0.82[CHB][hapmap]
rs3731672	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56154480	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs56887453	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73222147	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7602766	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:20221400-20249800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr2:20237800-20249000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr2:20238600-20248800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr2:20240600-20249200	Weak transcription	Colonic Mucosa	Colon
5	chr2:20240600-20249800	Weak transcription	Gastric	stomach
6	chr2:20240800-20248400	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr2:20240800-20248400	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr2:20240800-20248400	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr2:20240800-20248400	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr2:20240800-20249000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr2:20240800-20249400	Weak transcription	Placenta	Placenta
12	chr2:20241000-20249000	Weak transcription	Fetal Thymus	thymus
13	chr2:20241400-20248600	Weak transcription	Thymus	Thymus
14	chr2:20241400-20249600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr2:20241600-20248800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr2:20241600-20250400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr2:20242200-20249400	Weak transcription	Primary T cells fromperipheralblood	blood
18	chr2:20242600-20248400	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr2:20244000-20249400	Weak transcription	Pancreas	Pancrea
20	chr2:20244000-20249800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr2:20244000-20250000	Weak transcription	Spleen	Spleen
22	chr2:20244200-20248400	Weak transcription	Brain Anterior Caudate	brain
23	chr2:20244200-20248400	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr2:20246800-20249400	Weak transcription	Left Ventricle	heart
25	chr2:20247000-20249200	Weak transcription	Fetal Muscle Trunk	muscle
26	chr2:20247000-20249400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr2:20247000-20249400	Weak transcription	Lung	lung
28	chr2:20247400-20248400	Enhancers	Primary T helper cells PMA-I stimulated	--
29	chr2:20247400-20249400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr2:20247400-20249400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr2:20247400-20252600	Active TSS	Ovary	ovary
32	chr2:20247600-20248400	Enhancers	Fetal Stomach	stomach
33	chr2:20247600-20248600	Enhancers	Brain Hippocampus Middle	brain
34	chr2:20247600-20248800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr2:20247600-20248800	Enhancers	Primary monocytes fromperipheralblood	blood
36	chr2:20247600-20248800	Enhancers	Fetal Intestine Large	intestine
37	chr2:20247600-20248800	Enhancers	Fetal Intestine Small	intestine
38	chr2:20247600-20249000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr2:20247600-20249000	Flanking Active TSS	Fetal Lung	lung
40	chr2:20247600-20249000	Genic enhancers	K562	blood
41	chr2:20247600-20249200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr2:20247600-20249400	Enhancers	Primary T helper cells fromperipheralblood	blood
43	chr2:20247600-20249400	Enhancers	Liver	Liver
44	chr2:20247600-20249800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
45	chr2:20247600-20250200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr2:20247800-20248400	Enhancers	Duodenum Mucosa	Duodenum
47	chr2:20247800-20248800	Enhancers	Primary B cells from cord blood	blood
48	chr2:20247800-20248800	Enhancers	Fetal Heart	heart
49	chr2:20247800-20248800	Enhancers	Placenta Amnion	Placenta Amnion
50	chr2:20247800-20249600	Enhancers	Brain Substantia Nigra	brain

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