Variant report

Variant	rs72676009
Chromosome Location	chr4:120190597-120190598
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:120182924..120185910-chr4:120187445..120191655,4	K562	blood:

Variant related genes	Relation type
ENSG00000145390	Chromatin interaction

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10002207	1.00[EUR][1000 genomes]
rs10007353	0.89[EUR][1000 genomes]
rs10008206	1.00[EUR][1000 genomes]
rs10011628	0.89[EUR][1000 genomes]
rs10011815	0.89[EUR][1000 genomes]
rs10017227	1.00[EUR][1000 genomes]
rs10020251	1.00[EUR][1000 genomes]
rs10027388	0.89[EUR][1000 genomes]
rs10027543	1.00[EUR][1000 genomes]
rs10027649	1.00[EUR][1000 genomes]
rs10027729	0.89[EUR][1000 genomes]
rs10033458	0.89[EUR][1000 genomes]
rs11934185	0.89[EUR][1000 genomes]
rs11934309	0.89[EUR][1000 genomes]
rs11935277	0.89[EUR][1000 genomes]
rs11935490	0.89[EUR][1000 genomes]
rs11936641	0.89[EUR][1000 genomes]
rs11943221	0.89[EUR][1000 genomes]
rs13434885	0.89[EUR][1000 genomes]
rs13435642	0.89[EUR][1000 genomes]
rs17050012	1.00[EUR][1000 genomes]
rs17050027	0.89[EUR][1000 genomes]
rs17050032	0.89[EUR][1000 genomes]
rs17050065	0.87[EUR][1000 genomes]
rs17839092	0.89[EUR][1000 genomes]
rs2389726	0.89[EUR][1000 genomes]
rs28404363	0.89[EUR][1000 genomes]
rs28429127	0.89[EUR][1000 genomes]
rs28477374	1.00[EUR][1000 genomes]
rs28480491	0.89[EUR][1000 genomes]
rs28507886	0.89[EUR][1000 genomes]
rs28526325	0.89[EUR][1000 genomes]
rs28682357	0.89[EUR][1000 genomes]
rs28687038	0.89[EUR][1000 genomes]
rs28691747	0.89[EUR][1000 genomes]
rs28734069	1.00[EUR][1000 genomes]
rs4370120	0.89[EUR][1000 genomes]
rs4608795	0.89[EUR][1000 genomes]
rs56231990	0.87[EUR][1000 genomes]
rs72673713	1.00[EUR][1000 genomes]
rs72673721	0.89[EUR][1000 genomes]
rs72673726	0.89[EUR][1000 genomes]
rs72673752	0.87[EUR][1000 genomes]
rs72673777	1.00[EUR][1000 genomes]
rs72673794	1.00[EUR][1000 genomes]
rs72676016	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7666114	0.89[EUR][1000 genomes]
rs7666154	0.89[EUR][1000 genomes]
rs7666292	0.89[EUR][1000 genomes]
rs9307467	0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916641	chr4:119780023-120777320	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	nsv948802	chr4:119844269-120208926	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
3	nsv1012868	chr4:120014630-120464880	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
4	nsv537232	chr4:120014630-120464880	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
5	esv3388308	chr4:120190354-120192252	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:120135000-120195800	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr4:120135400-120194600	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr4:120136200-120219200	Weak transcription	Brain Angular Gyrus	brain
4	chr4:120141000-120192400	Weak transcription	Hela-S3	cervix
5	chr4:120148200-120213600	Weak transcription	Fetal Muscle Leg	muscle
6	chr4:120159400-120200800	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr4:120159400-120201600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr4:120159400-120206200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr4:120159600-120200800	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr4:120160800-120195000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr4:120166000-120195200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr4:120166400-120206200	Weak transcription	Small Intestine	intestine
13	chr4:120167000-120194400	Weak transcription	Fetal Muscle Trunk	muscle
14	chr4:120167800-120192400	Weak transcription	Psoas Muscle	Psoas
15	chr4:120170600-120192600	Weak transcription	Fetal Thymus	thymus
16	chr4:120170600-120206200	Weak transcription	Brain Cingulate Gyrus	brain
17	chr4:120173400-120195200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr4:120174200-120191800	Weak transcription	Fetal Lung	lung
19	chr4:120174200-120192600	Weak transcription	Brain Anterior Caudate	brain
20	chr4:120174400-120191600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
21	chr4:120174400-120206200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
22	chr4:120175600-120195200	Strong transcription	Rectal Mucosa Donor 31	rectum
23	chr4:120176800-120192200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr4:120176800-120193400	Strong transcription	NHDF-Ad	bronchial
25	chr4:120176800-120194400	Strong transcription	HUES64 Cell Line	embryonic stem cell
26	chr4:120176800-120200800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr4:120176800-120202600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
28	chr4:120177000-120191600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr4:120177000-120192600	Weak transcription	Gastric	stomach
30	chr4:120177000-120194800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr4:120177000-120195000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr4:120177000-120205600	Weak transcription	Aorta	Aorta
33	chr4:120177000-120206000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
34	chr4:120177000-120213600	Weak transcription	Lung	lung
35	chr4:120177000-120220200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr4:120177000-120220200	Weak transcription	Pancreas	Pancrea
37	chr4:120177200-120206200	Weak transcription	Colon Smooth Muscle	Colon
38	chr4:120177200-120213600	Weak transcription	Esophagus	oesophagus
39	chr4:120177800-120211400	Weak transcription	HepG2	liver
40	chr4:120178200-120192400	Weak transcription	NH-A	brain
41	chr4:120178200-120213400	Weak transcription	Primary B cells from peripheral blood	blood
42	chr4:120178200-120213600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr4:120178200-120213800	Weak transcription	Primary B cells from cord blood	blood
44	chr4:120178400-120192600	Weak transcription	Ovary	ovary
45	chr4:120178600-120192400	Weak transcription	Sigmoid Colon	Sigmoid Colon
46	chr4:120178600-120206200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
47	chr4:120178600-120217600	Weak transcription	Fetal Stomach	stomach
48	chr4:120178800-120192400	Weak transcription	HSMMtube	muscle
49	chr4:120179400-120194600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr4:120179600-120192400	Weak transcription	Colonic Mucosa	Colon

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