Variant report

Variant	rs73956525
Chromosome Location	chr2:128113024-128113025
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:128112789..128113667-chr2:128211064..128211727,2	MCF-7	breast:
2	chr2:128112029..128113592-chr2:128144594..128147259,2	MCF-7	breast:
3	chr2:128111305..128113465-chr2:128157702..128159726,2	MCF-7	breast:
4	chr2:128112442..128114326-chr2:128127386..128129324,2	MCF-7	breast:
5	chr2:128112156..128113664-chr2:128210673..128211919,7	MCF-7	breast:
6	chr2:128112592..128115294-chr2:128140839..128143680,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000169967	Chromatin interaction
ENSG00000236682	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10209483	0.89[ASN][1000 genomes]
rs11680949	0.89[ASN][1000 genomes]
rs11691088	0.89[ASN][1000 genomes]
rs2069894	1.00[ASN][1000 genomes]
rs3732209	0.89[ASN][1000 genomes]
rs4150436	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4150452	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs56291216	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57347433	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs58965651	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6755652	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72845979	0.89[ASN][1000 genomes]
rs72845982	0.89[ASN][1000 genomes]
rs73953605	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73956517	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73956519	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73956522	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73956526	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs8179521	1.00[ASN][1000 genomes]
rs9282675	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3459771	chr2:128103479-128114160	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
2	esv3459772	chr2:128103655-128114047	Weak transcription Enhancers ZNF genes & repeats Genic enhancers Strong transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:128069000-128117000	Weak transcription	Small Intestine	intestine
2	chr2:128077000-128116200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr2:128077200-128122800	Weak transcription	Aorta	Aorta
4	chr2:128079800-128114600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr2:128082000-128114600	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr2:128083600-128117000	Weak transcription	Brain Anterior Caudate	brain
7	chr2:128092600-128122000	Weak transcription	Pancreas	Pancrea
8	chr2:128093200-128122800	Weak transcription	Fetal Kidney	kidney
9	chr2:128095600-128122000	Weak transcription	Brain Angular Gyrus	brain
10	chr2:128096400-128122200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr2:128096800-128117800	Weak transcription	Duodenum Mucosa	Duodenum
12	chr2:128096800-128119600	Weak transcription	HSMM	muscle
13	chr2:128100200-128119600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr2:128100400-128118400	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr2:128100600-128119800	Weak transcription	NHDF-Ad	bronchial
16	chr2:128101600-128116400	Weak transcription	Fetal Thymus	thymus
17	chr2:128101600-128117800	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr2:128102600-128122400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr2:128104600-128119400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr2:128105600-128127400	Weak transcription	Primary hematopoietic stem cells	blood
21	chr2:128106400-128119200	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr2:128107000-128122800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
23	chr2:128107200-128122800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr2:128107800-128119400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
25	chr2:128107800-128140200	Weak transcription	Gastric	stomach
26	chr2:128108000-128117000	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr2:128109600-128124600	Weak transcription	Stomach Mucosa	stomach
28	chr2:128109800-128114800	Weak transcription	Esophagus	oesophagus
29	chr2:128109800-128121000	Weak transcription	Primary neutrophils fromperipheralblood	blood
30	chr2:128109800-128121400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr2:128109800-128121400	Weak transcription	Left Ventricle	heart
32	chr2:128109800-128121400	Weak transcription	Ovary	ovary
33	chr2:128109800-128121400	Weak transcription	Right Atrium	heart
34	chr2:128109800-128123000	Weak transcription	Right Ventricle	heart
35	chr2:128109800-128134000	Weak transcription	Lung	lung
36	chr2:128110000-128114600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr2:128110000-128116200	Weak transcription	Psoas Muscle	Psoas
38	chr2:128110200-128127800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
39	chr2:128111800-128113400	Enhancers	Liver	Liver
40	chr2:128111800-128113600	Enhancers	HepG2	liver
41	chr2:128112000-128113200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
42	chr2:128112000-128113400	Enhancers	Primary T cells from cord blood	blood
43	chr2:128112000-128113400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
44	chr2:128112000-128113400	Enhancers	Skeletal Muscle Female	skeletal muscle
45	chr2:128112200-128113200	Enhancers	Primary T helper naive cells from peripheral blood	blood
46	chr2:128112200-128120600	Weak transcription	Adipose Nuclei	Adipose
47	chr2:128112200-128126400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr2:128112400-128113600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr2:128112400-128115600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
50	chr2:128112400-128115600	Weak transcription	K562	blood

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