Variant report

Variant	rs58807488
Chromosome Location	chr7:66052045-66052046
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:66046074..66047727-chr7:66051992..66054807,2	K562	blood:
2	chr7:66051779..66054394-chr7:66057602..66059398,2	K562	blood:
3	chr7:66044695..66047717-chr7:66050273..66053007,3	K562	blood:
4	chr7:66050815..66053279-chr7:66056186..66059102,2	K562	blood:

Variant related genes	Relation type
ENSG00000232559	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11975957	1.00[EUR][1000 genomes]
rs17138012	1.00[EUR][1000 genomes]
rs17138015	1.00[EUR][1000 genomes]
rs58642961	1.00[EUR][1000 genomes]
rs60019603	1.00[EUR][1000 genomes]
rs60319566	1.00[EUR][1000 genomes]
rs6945895	1.00[EUR][1000 genomes]
rs6960788	1.00[EUR][1000 genomes]
rs6964781	1.00[EUR][1000 genomes]
rs7786451	1.00[EUR][1000 genomes]
rs7790626	0.87[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532124	chr7:65371521-66234730	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats 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	125 gene(s)	inside rSNPs	diseases
2	nsv1026559	chr7:65617368-66370805	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	116 gene(s)	inside rSNPs	diseases
3	nsv1035107	chr7:65814901-66114919	Genic enhancers Strong transcription ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
4	nsv538909	chr7:65814901-66114919	Strong transcription Weak transcription Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
5	nsv888326	chr7:65825257-66066999	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
6	nsv482441	chr7:65885824-66061788	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
7	esv3423847	chr7:65941210-66054107	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Bivalent Enhancer 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	29 gene(s)	inside rSNPs	diseases
8	nsv970868	chr7:66035219-66056610	Weak transcription Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:66004400-66052600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr7:66008600-66056000	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr7:66021800-66056400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr7:66023200-66055400	Weak transcription	Fetal Brain Male	brain
5	chr7:66024200-66055400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr7:66024200-66055600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr7:66037600-66056400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr7:66037800-66054800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr7:66038000-66052400	Weak transcription	Psoas Muscle	Psoas
10	chr7:66038000-66056200	Weak transcription	Colonic Mucosa	Colon
11	chr7:66038200-66055400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr7:66038200-66055800	Weak transcription	Primary hematopoietic stem cells	blood
13	chr7:66038400-66055400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr7:66038800-66055400	Weak transcription	Fetal Lung	lung
15	chr7:66039200-66054600	Weak transcription	Fetal Brain Female	brain
16	chr7:66039400-66054200	Weak transcription	Right Ventricle	heart
17	chr7:66039400-66054200	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr7:66039400-66055400	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr7:66039400-66055400	Weak transcription	Fetal Kidney	kidney
20	chr7:66039400-66055400	Weak transcription	HUVEC	blood vessel
21	chr7:66039400-66055400	Weak transcription	NH-A	brain
22	chr7:66039600-66054800	Weak transcription	Esophagus	oesophagus
23	chr7:66039800-66055400	Weak transcription	HSMMtube	muscle
24	chr7:66040200-66056200	Weak transcription	Aorta	Aorta
25	chr7:66042000-66054600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr7:66042000-66054600	Weak transcription	Duodenum Mucosa	Duodenum
27	chr7:66042000-66055800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr7:66042200-66053800	Weak transcription	Hela-S3	cervix
29	chr7:66042200-66055200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr7:66043000-66052400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
31	chr7:66043000-66055400	Weak transcription	GM12878-XiMat	blood
32	chr7:66044600-66052600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
33	chr7:66045000-66052400	Weak transcription	Right Atrium	heart
34	chr7:66045000-66055200	Weak transcription	Brain Cingulate Gyrus	brain
35	chr7:66045200-66055800	Weak transcription	Brain Angular Gyrus	brain
36	chr7:66046400-66055400	Weak transcription	Brain Inferior Temporal Lobe	brain
37	chr7:66046600-66055200	Weak transcription	Gastric	stomach
38	chr7:66046800-66052400	Weak transcription	Pancreas	Pancrea
39	chr7:66048000-66055200	Weak transcription	Rectal Mucosa Donor 31	rectum
40	chr7:66048800-66052600	Weak transcription	Muscle Satellite Cultured Cells	--
41	chr7:66048800-66055200	Weak transcription	Rectal Smooth Muscle	rectum
42	chr7:66049000-66052200	Weak transcription	Primary B cells from cord blood	blood
43	chr7:66049000-66052800	Weak transcription	Skeletal Muscle Female	skeletal muscle
44	chr7:66049000-66053200	Weak transcription	HMEC	breast
45	chr7:66049000-66054200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
46	chr7:66049000-66054600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
47	chr7:66049000-66054600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr7:66049000-66054600	Weak transcription	Brain Anterior Caudate	brain
49	chr7:66049000-66054600	Weak transcription	Fetal Thymus	thymus
50	chr7:66049000-66054600	Weak transcription	Placenta Amnion	Placenta Amnion

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links