Variant report

Variant	rs72950601
Chromosome Location	chr4:106367361-106367362
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:106365210..106367953-chr4:106377715..106379530,2	MCF-7	breast:
2	chr4:106367022..106369880-chr4:106393183..106396480,3	K562	blood:
3	chr4:106366716..106368636-chr4:106386023..106388059,2	K562	blood:

Variant related genes	Relation type
ENSG00000138777	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11097889	0.80[AFR][1000 genomes]
rs11097890	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12108243	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12108480	0.80[AFR][1000 genomes]
rs17035595	0.80[AFR][1000 genomes]
rs17035596	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17035600	0.80[AFR][1000 genomes]
rs17035605	0.80[AFR][1000 genomes]
rs17035609	0.80[AFR][1000 genomes]
rs17035618	0.80[AFR][1000 genomes]
rs28417349	0.80[AFR][1000 genomes]
rs72950590	0.80[AFR][1000 genomes]
rs72950594	0.80[AFR][1000 genomes]
rs72950598	0.80[AFR][1000 genomes]
rs72952256	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72952274	0.80[AFR][1000 genomes]
rs72952276	0.80[AFR][1000 genomes]
rs72952281	0.80[AFR][1000 genomes]
rs72952296	0.80[AFR][1000 genomes]
rs72952301	0.80[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv879699	chr4:106212562-106698892	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	nsv830027	chr4:106222010-106406738	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
3	nsv1002228	chr4:106346206-106433381	ZNF genes & repeats Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
4	esv2760858	chr4:106351454-106376197	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:106323600-106372800	Weak transcription	Stomach Mucosa	stomach
2	chr4:106327200-106389200	Weak transcription	Small Intestine	intestine
3	chr4:106327200-106390600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr4:106336800-106376400	Weak transcription	Right Ventricle	heart
5	chr4:106336800-106387800	Weak transcription	NHLF	lung
6	chr4:106340200-106387800	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr4:106341600-106376000	Weak transcription	Fetal Heart	heart
8	chr4:106346600-106369000	Weak transcription	Hela-S3	cervix
9	chr4:106347600-106367600	Weak transcription	Fetal Brain Male	brain
10	chr4:106347600-106392800	Weak transcription	Colonic Mucosa	Colon
11	chr4:106347800-106375200	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr4:106348000-106375000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr4:106348000-106376400	Weak transcription	Gastric	stomach
14	chr4:106348000-106376800	Weak transcription	Pancreas	Pancrea
15	chr4:106348000-106388000	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr4:106348200-106387800	Weak transcription	Lung	lung
17	chr4:106348200-106393000	Weak transcription	Thymus	Thymus
18	chr4:106348400-106384200	Weak transcription	Fetal Stomach	stomach
19	chr4:106348600-106384600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr4:106348800-106375000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr4:106352200-106375000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr4:106355400-106378800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr4:106355400-106393200	Weak transcription	Esophagus	oesophagus
24	chr4:106356800-106372600	Weak transcription	NH-A	brain
25	chr4:106357000-106372800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr4:106357200-106374200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr4:106357200-106381000	Weak transcription	Brain Cingulate Gyrus	brain
28	chr4:106357200-106381000	Weak transcription	Brain Substantia Nigra	brain
29	chr4:106357200-106387600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr4:106357200-106392600	Weak transcription	Brain Angular Gyrus	brain
31	chr4:106357600-106392200	Weak transcription	Rectal Smooth Muscle	rectum
32	chr4:106357800-106371400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr4:106358000-106369200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
34	chr4:106358200-106369600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
35	chr4:106358400-106367400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
36	chr4:106358600-106370200	Weak transcription	K562	blood
37	chr4:106358800-106372600	Weak transcription	Pancreatic Islets	Pancreatic Islet
38	chr4:106359000-106373000	Weak transcription	Cortex derived primary cultured neurospheres	brain
39	chr4:106359000-106378800	Weak transcription	Fetal Intestine Small	intestine
40	chr4:106359000-106382400	Weak transcription	Placenta Amnion	Placenta Amnion
41	chr4:106359000-106387600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr4:106359200-106382200	Weak transcription	Primary neutrophils fromperipheralblood	blood
43	chr4:106359600-106379800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
44	chr4:106360000-106373400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
45	chr4:106361000-106369200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
46	chr4:106361000-106369600	Strong transcription	Primary monocytes fromperipheralblood	blood
47	chr4:106361200-106368200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr4:106361200-106368600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr4:106361200-106378000	Strong transcription	Monocytes-CD14+_RO01746	blood
50	chr4:106361400-106379600	Strong transcription	Primary hematopoietic stem cells short term culture	blood

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