Variant report

Variant	rs7719094
Chromosome Location	chr5:118675811-118675812
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:118657976..118659657-chr5:118675627..118677194,2	MCF-7	breast:
2	chr5:118675434..118678874-chr5:118679948..118684456,6	K562	blood:
3	chr5:118654543..118656491-chr5:118674624..118677344,2	K562	blood:
4	chr5:118666908..118671699-chr5:118672968..118679055,7	K562	blood:

Variant related genes	Relation type
ENSG00000145779	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10052899	1.00[JPT][hapmap]
rs10052962	1.00[JPT][hapmap]
rs10060971	1.00[JPT][hapmap]
rs11950366	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11951771	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11956042	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11956215	1.00[CHD][hapmap]
rs11956285	1.00[CHD][hapmap];1.00[JPT][hapmap]
rs11959659	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11959729	1.00[JPT][hapmap]
rs11959964	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11960246	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11960654	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17145189	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17145194	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17145196	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17145198	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17164572	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs1876737	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs3813301	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs3813302	1.00[CHB][hapmap]
rs3813303	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs3813304	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes]
rs4392658	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6862320	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6875361	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6883394	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7703577	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7704026	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs7704291	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7704386	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs7704398	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs7704487	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7707221	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7707736	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7721976	1.00[CHD][hapmap]
rs7722687	1.00[JPT][hapmap]
rs7722699	1.00[CHD][hapmap];1.00[JPT][hapmap]
rs7737934	1.00[CHB][hapmap];1.00[JPT][hapmap]

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	nsv1024648	chr5:118608175-118678268	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv869828	chr5:118610548-118691190	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv599565	chr5:118661882-118691888	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv882775	chr5:118669094-118691888	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:118659600-118677800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr5:118660200-118678600	Weak transcription	HepG2	liver
3	chr5:118664400-118678200	Weak transcription	Fetal Kidney	kidney
4	chr5:118665400-118677000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr5:118669400-118677600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr5:118670400-118678200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
7	chr5:118670800-118677000	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr5:118670800-118691000	Weak transcription	Aorta	Aorta
9	chr5:118671000-118676000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
10	chr5:118671200-118677000	Enhancers	Primary hematopoietic stem cells short term culture	blood
11	chr5:118671200-118678400	Weak transcription	Rectal Smooth Muscle	rectum
12	chr5:118671200-118680200	Enhancers	Thymus	Thymus
13	chr5:118671200-118681600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr5:118671200-118695400	Weak transcription	A549	lung
15	chr5:118671400-118676000	Enhancers	Primary B cells from peripheral blood	blood
16	chr5:118671800-118680000	Enhancers	Primary hematopoietic stem cells	blood
17	chr5:118672200-118676800	Enhancers	Small Intestine	intestine
18	chr5:118673000-118676000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
19	chr5:118673000-118677400	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr5:118673200-118678600	Weak transcription	Fetal Lung	lung
21	chr5:118673200-118679600	Enhancers	Fetal Heart	heart
22	chr5:118673200-118683600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr5:118673200-118683800	Weak transcription	Hela-S3	cervix
24	chr5:118673400-118683000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr5:118673600-118677600	Weak transcription	HSMM	muscle
26	chr5:118673600-118678200	Weak transcription	Adipose Nuclei	Adipose
27	chr5:118673600-118678200	Weak transcription	Colon Smooth Muscle	Colon
28	chr5:118673600-118678800	Enhancers	Fetal Thymus	thymus
29	chr5:118673800-118677600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr5:118673800-118683400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr5:118674000-118677200	Weak transcription	NHEK	skin
32	chr5:118674000-118679800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr5:118674200-118676400	Flanking Active TSS	GM12878-XiMat	blood
34	chr5:118674200-118676600	Weak transcription	Colonic Mucosa	Colon
35	chr5:118674200-118677000	Weak transcription	HUES6 Cell Line	embryonic stem cell
36	chr5:118674200-118677800	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr5:118674200-118678600	Weak transcription	Fetal Intestine Large	intestine
38	chr5:118674200-118681800	Weak transcription	Pancreas	Pancrea
39	chr5:118674200-118689000	Weak transcription	Esophagus	oesophagus
40	chr5:118674400-118676000	Weak transcription	Stomach Mucosa	stomach
41	chr5:118674400-118676400	Weak transcription	Psoas Muscle	Psoas
42	chr5:118674400-118677400	Weak transcription	Fetal Stomach	stomach
43	chr5:118674400-118678400	Weak transcription	Fetal Intestine Small	intestine
44	chr5:118674400-118678400	Weak transcription	Stomach Smooth Muscle	stomach
45	chr5:118674400-118681000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr5:118674400-118689000	Weak transcription	Gastric	stomach
47	chr5:118674600-118676000	Weak transcription	Fetal Muscle Trunk	muscle
48	chr5:118675000-118678400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
49	chr5:118675200-118676600	Genic enhancers	Dnd41	blood
50	chr5:118675200-118677400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood

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