Variant report

Variant	rs73735619
Chromosome Location	chr7:139470173-139470174
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:139469062..139470593-chr7:139616161..139618047,2	K562	blood:
2	chr7:139468899..139470916-chr7:139683808..139686400,2	K562	blood:
3	chr7:139470113..139472375-chr7:139673365..139675448,2	K562	blood:
4	chr7:139468774..139474214-chr7:139474318..139478750,13	MCF-7	breast:
5	chr7:139328993..139331448-chr7:139467533..139470371,3	K562	blood:
6	chr7:139467872..139470323-chr7:139609014..139611111,2	K562	blood:

Variant related genes	Relation type
ENSG00000059377	Chromatin interaction
ENSG00000064393	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10273177	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs10281682	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17161128	0.86[AFR][1000 genomes]
rs28530639	0.86[AFR][1000 genomes]
rs28714444	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55700662	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs56086211	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60258209	0.92[AFR][1000 genomes]
rs6947792	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6950459	0.86[AFR][1000 genomes]
rs6954520	0.86[AFR][1000 genomes]
rs6963499	0.85[AMR][1000 genomes]
rs73735622	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs73735623	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs73735625	0.87[AFR][1000 genomes]
rs73735628	0.86[AFR][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	nsv1020234	chr7:139377822-139661964	Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv1032711	chr7:139411404-139684043	Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv464732	chr7:139424022-139654256	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv608472	chr7:139424022-139654256	Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv1018712	chr7:139429703-139658014	Flanking Active TSS Weak transcription Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:139440600-139474600	Weak transcription	Fetal Brain Male	brain
2	chr7:139446600-139475800	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr7:139446600-139476400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr7:139446800-139476400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr7:139454200-139471000	Weak transcription	Brain Germinal Matrix	brain
6	chr7:139454200-139474000	Weak transcription	Stomach Smooth Muscle	stomach
7	chr7:139455000-139475000	Weak transcription	Fetal Intestine Small	intestine
8	chr7:139455200-139473400	Weak transcription	Fetal Brain Female	brain
9	chr7:139458200-139471400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr7:139459600-139474400	Weak transcription	Fetal Intestine Large	intestine
11	chr7:139461600-139471200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr7:139463200-139472000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr7:139463600-139475000	Weak transcription	Ovary	ovary
14	chr7:139463800-139470400	Weak transcription	NH-A	brain
15	chr7:139463800-139471000	Weak transcription	HSMMtube	muscle
16	chr7:139463800-139471200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr7:139464000-139470800	Weak transcription	NHDF-Ad	bronchial
18	chr7:139464200-139470200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr7:139465200-139470800	Genic enhancers	Muscle Satellite Cultured Cells	--
20	chr7:139465600-139475000	Enhancers	Brain Substantia Nigra	brain
21	chr7:139466600-139472200	Enhancers	Brain Anterior Caudate	brain
22	chr7:139466800-139472000	Enhancers	Brain Inferior Temporal Lobe	brain
23	chr7:139466800-139472400	Enhancers	Brain Angular Gyrus	brain
24	chr7:139467400-139472200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
25	chr7:139467600-139475400	Weak transcription	Aorta	Aorta
26	chr7:139467800-139472400	Enhancers	Primary T killer memory cells from peripheral blood	blood
27	chr7:139467800-139475000	Enhancers	Primary T helper cells PMA-I stimulated	--
28	chr7:139468000-139471200	Weak transcription	Small Intestine	intestine
29	chr7:139468000-139475800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr7:139468200-139470200	Strong transcription	Osteobl	bone
31	chr7:139468200-139471200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
32	chr7:139468200-139474800	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr7:139468400-139470800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr7:139468600-139470200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr7:139468600-139470200	Strong transcription	NHEK	skin
36	chr7:139468600-139470200	Weak transcription	NHLF	lung
37	chr7:139468600-139470600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
38	chr7:139468600-139470800	Enhancers	Pancreatic Islets	Pancreatic Islet
39	chr7:139468600-139473400	Weak transcription	Fetal Lung	lung
40	chr7:139468600-139474200	Weak transcription	K562	blood
41	chr7:139468800-139470600	Weak transcription	Cortex derived primary cultured neurospheres	brain
42	chr7:139468800-139470800	Weak transcription	HUVEC	blood vessel
43	chr7:139468800-139471000	Strong transcription	HepG2	liver
44	chr7:139468800-139472200	Enhancers	Primary T helper naive cells from peripheral blood	blood
45	chr7:139468800-139474200	Weak transcription	Rectal Mucosa Donor 31	rectum
46	chr7:139468800-139474800	Enhancers	Primary neutrophils fromperipheralblood	blood
47	chr7:139468800-139475000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
48	chr7:139468800-139475000	Weak transcription	Placenta	Placenta
49	chr7:139468800-139475600	Enhancers	Primary T cells from cord blood	blood
50	chr7:139469000-139470800	Strong transcription	HSMM	muscle

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