Variant report

Variant	rs72967126
Chromosome Location	chr3:119553064-119553065
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:119550948..119553209-chr3:119569939..119572570,3	MCF-7	breast:
2	chr3:119528874..119531206-chr3:119552611..119555308,3	MCF-7	breast:
3	chr3:119551023..119553431-chr3:119812745..119815543,2	MCF-7	breast:
4	chr3:119548336..119550894-chr3:119551910..119554571,2	K562	blood:

Variant related genes	Relation type
ENSG00000144852	Chromatin interaction
ENSG00000082701	Chromatin interaction
ENSG00000242622	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs57461967	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57512425	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58340674	1.00[AMR][1000 genomes]
rs58533045	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58742584	1.00[AMR][1000 genomes]
rs72967103	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72967130	1.00[AFR][1000 genomes]
rs72967133	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72967147	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72967152	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72967170	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72967181	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72967186	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72967191	1.00[AMR][1000 genomes]
rs72967195	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72969103	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72969111	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72969116	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72969128	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72969131	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72969135	1.00[AMR][1000 genomes]
rs72969142	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72969149	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72969170	0.92[AFR][1000 genomes];1.00[AMR][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	nsv1011178	chr3:119437192-119589116	Weak transcription Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	nsv536703	chr3:119437192-119589116	Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:119529400-119566600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr3:119529600-119582000	Weak transcription	Spleen	Spleen
3	chr3:119534800-119558600	Weak transcription	Colonic Mucosa	Colon
4	chr3:119536200-119569000	Weak transcription	Esophagus	oesophagus
5	chr3:119536400-119570200	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr3:119536600-119576000	Weak transcription	Fetal Muscle Trunk	muscle
7	chr3:119536600-119576400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr3:119539000-119576400	Weak transcription	Ovary	ovary
9	chr3:119540400-119563600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr3:119540400-119574800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr3:119540400-119576600	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr3:119540800-119577000	Weak transcription	Aorta	Aorta
13	chr3:119541000-119581600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
14	chr3:119541200-119561800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
15	chr3:119541200-119587000	Weak transcription	Gastric	stomach
16	chr3:119541800-119559200	Weak transcription	Pancreas	Pancrea
17	chr3:119541800-119560000	Weak transcription	Rectal Smooth Muscle	rectum
18	chr3:119542400-119581200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr3:119542600-119560800	Weak transcription	Hela-S3	cervix
20	chr3:119542600-119581600	Weak transcription	HUVEC	blood vessel
21	chr3:119542800-119575000	Weak transcription	Fetal Kidney	kidney
22	chr3:119544000-119561800	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr3:119545000-119559600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
24	chr3:119545000-119576400	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr3:119545200-119559200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr3:119545200-119559400	Weak transcription	Primary T helper cells PMA-I stimulated	--
27	chr3:119545200-119561600	Weak transcription	Fetal Stomach	stomach
28	chr3:119545200-119562800	Weak transcription	NHLF	lung
29	chr3:119545200-119575000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
30	chr3:119545200-119575000	Weak transcription	Adipose Nuclei	Adipose
31	chr3:119545200-119575400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
32	chr3:119545200-119583400	Weak transcription	Brain Angular Gyrus	brain
33	chr3:119545800-119560400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr3:119545800-119576400	Weak transcription	Brain Germinal Matrix	brain
35	chr3:119545800-119581600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr3:119546000-119554000	Weak transcription	Primary neutrophils fromperipheralblood	blood
37	chr3:119546000-119556000	Weak transcription	Primary monocytes fromperipheralblood	blood
38	chr3:119546000-119556000	Weak transcription	Fetal Intestine Small	intestine
39	chr3:119546000-119558200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr3:119546000-119558200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr3:119546000-119561800	Weak transcription	Left Ventricle	heart
42	chr3:119546000-119561800	Weak transcription	Thymus	Thymus
43	chr3:119546000-119569000	Weak transcription	Duodenum Smooth Muscle	Duodenum
44	chr3:119546000-119571800	Weak transcription	GM12878-XiMat	blood
45	chr3:119546000-119575000	Weak transcription	Primary B cells from peripheral blood	blood
46	chr3:119546000-119576400	Weak transcription	Stomach Smooth Muscle	stomach
47	chr3:119546000-119663400	Weak transcription	Lung	lung
48	chr3:119546200-119553400	Weak transcription	Fetal Intestine Large	intestine
49	chr3:119546200-119559400	Weak transcription	Fetal Thymus	thymus
50	chr3:119546200-119561400	Weak transcription	Primary T helper cells fromperipheralblood	blood

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