Variant report

Variant	rs13114950
Chromosome Location	chr4:166022499-166022500
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:166022079..166024029-chr4:166032477..166034231,2	K562	blood:

Variant related genes	Relation type
ENSG00000170088	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs34022823	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56181000	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs67556835	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72699521	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1026152	chr4:165622244-166027447	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv537336	chr4:165622244-166027447	Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	nsv1022210	chr4:165792630-166251612	Genic enhancers Enhancers Active TSS Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
4	nsv537337	chr4:165792630-166251612	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
5	nsv1021905	chr4:165852926-166212878	Weak transcription Enhancers Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
6	nsv533191	chr4:165879671-166171638	Active TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
7	esv1835468	chr4:165969625-166023258	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	n/a
8	esv1840053	chr4:165969625-166023258	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	n/a
9	nsv881168	chr4:165975122-166196438	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:165990800-166026600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr4:165994600-166032800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr4:165996000-166033000	Weak transcription	Thymus	Thymus
4	chr4:165996800-166032600	Weak transcription	Hela-S3	cervix
5	chr4:165997800-166032400	Weak transcription	Fetal Brain Male	brain
6	chr4:165999000-166022800	Weak transcription	HUVEC	blood vessel
7	chr4:165999000-166023000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr4:165999400-166033200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr4:165999600-166033000	Weak transcription	Osteobl	bone
10	chr4:166000600-166032800	Weak transcription	NHDF-Ad	bronchial
11	chr4:166005000-166023400	Strong transcription	Fetal Stomach	stomach
12	chr4:166005000-166023600	Strong transcription	Ovary	ovary
13	chr4:166005200-166023200	Strong transcription	Fetal Intestine Small	intestine
14	chr4:166005200-166024200	Strong transcription	Liver	Liver
15	chr4:166005800-166026000	Weak transcription	Psoas Muscle	Psoas
16	chr4:166005800-166033000	Weak transcription	NH-A	brain
17	chr4:166007200-166033000	Weak transcription	A549	lung
18	chr4:166007400-166032600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
19	chr4:166007600-166023000	Weak transcription	K562	blood
20	chr4:166007600-166033000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr4:166007600-166033000	Weak transcription	HSMMtube	muscle
22	chr4:166008000-166032600	Weak transcription	Pancreatic Islets	Pancreatic Islet
23	chr4:166008600-166032600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
24	chr4:166008600-166032600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr4:166008600-166033000	Weak transcription	Colonic Mucosa	Colon
26	chr4:166008600-166033200	Weak transcription	Gastric	stomach
27	chr4:166009200-166033400	Weak transcription	Small Intestine	intestine
28	chr4:166009800-166022600	Weak transcription	Brain Germinal Matrix	brain
29	chr4:166009800-166023000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr4:166009800-166031200	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr4:166009800-166032600	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr4:166009800-166032800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
33	chr4:166009800-166032800	Weak transcription	HMEC	breast
34	chr4:166009800-166033000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr4:166009800-166033000	Weak transcription	Rectal Smooth Muscle	rectum
36	chr4:166009800-166033200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr4:166009800-166033200	Weak transcription	Esophagus	oesophagus
38	chr4:166010000-166022600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr4:166010000-166022800	Weak transcription	NHEK	skin
40	chr4:166010000-166032600	Weak transcription	Brain Substantia Nigra	brain
41	chr4:166010000-166032800	Weak transcription	Fetal Kidney	kidney
42	chr4:166010000-166033000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr4:166010000-166033000	Weak transcription	Brain Angular Gyrus	brain
44	chr4:166010000-166033200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr4:166010200-166022800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
46	chr4:166011400-166024200	Strong transcription	Primary monocytes fromperipheralblood	blood
47	chr4:166013400-166024200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
48	chr4:166015000-166023200	Strong transcription	Lung	lung
49	chr4:166016600-166023400	Weak transcription	Primary hematopoietic stem cells	blood
50	chr4:166016600-166024200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood

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