Variant report

Variant	rs7692806
Chromosome Location	chr4:56214612-56214613
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:56209954..56216628-chr4:56219638..56226284,12	MCF-7	breast:
2	chr4:56211148..56230966-chr4:56256626..56269458,54	MCF-7	breast:
3	chr4:56211281..56215987-chr4:56257992..56268538,18	K562	blood:
4	chr4:56209741..56214746-chr4:56246986..56251789,8	K562	blood:
5	chr4:56212034..56214727-chr4:56273890..56277792,4	MCF-7	breast:
6	chr4:56212201..56215605-chr4:56218401..56220453,4	MCF-7	breast:
7	chr4:56210683..56216526-chr4:56216680..56221548,10	K562	blood:
8	chr4:56211242..56218739-chr4:56258356..56267013,28	MCF-7	breast:
9	chr4:56213251..56215609-chr4:56227634..56229656,2	MCF-7	breast:
10	chr4:56211308..56214746-chr4:56245753..56253172,10	K562	blood:
11	chr4:56211857..56214696-chr4:56223596..56227401,3	K562	blood:
12	chr4:56211096..56216124-chr4:56256262..56265067,20	K562	blood:

No data

Variant related genes	Relation type
ENSG00000134851	Chromatin interaction
ENSG00000251111	Chromatin interaction
ENSG00000249700	Chromatin interaction
ENSG00000128039	Chromatin interaction
ENSG00000203615	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11133372	0.81[AFR][1000 genomes]
rs11133374	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28433408	0.82[EUR][1000 genomes]
rs4864983	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6818658	0.92[AFR][1000 genomes]
rs7673512	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7690827	0.93[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];0.94[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv526344	chr4:55522488-56231119	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	esv3328582	chr4:56164136-56486156	Enhancers Active TSS Weak transcription Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:56213000-56215000	Flanking Active TSS	Dnd41	blood
2	chr4:56213200-56219000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr4:56213200-56230000	Weak transcription	Fetal Kidney	kidney
4	chr4:56213400-56214800	Enhancers	Primary hematopoietic stem cells	blood
5	chr4:56213400-56215000	Enhancers	HUVEC	blood vessel
6	chr4:56213400-56215200	Enhancers	Fetal Lung	lung
7	chr4:56213400-56215200	Enhancers	Stomach Mucosa	stomach
8	chr4:56213400-56215200	Enhancers	NHDF-Ad	bronchial
9	chr4:56213400-56215200	Enhancers	Osteobl	bone
10	chr4:56213400-56215400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr4:56213400-56217000	Weak transcription	Fetal Stomach	stomach
12	chr4:56213400-56217200	Weak transcription	Lung	lung
13	chr4:56213400-56223800	Weak transcription	Fetal Heart	heart
14	chr4:56213400-56225400	Weak transcription	Spleen	Spleen
15	chr4:56213400-56233600	Weak transcription	Fetal Intestine Large	intestine
16	chr4:56213600-56214800	Weak transcription	NH-A	brain
17	chr4:56213600-56215000	Enhancers	Primary hematopoietic stem cells short term culture	blood
18	chr4:56213600-56215000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr4:56213600-56215000	Enhancers	Brain Angular Gyrus	brain
20	chr4:56213600-56215000	Enhancers	Brain Substantia Nigra	brain
21	chr4:56213600-56215000	Enhancers	Monocytes-CD14+_RO01746	blood
22	chr4:56213600-56215000	Enhancers	NHEK	skin
23	chr4:56213600-56215200	Enhancers	Muscle Satellite Cultured Cells	--
24	chr4:56213600-56215200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr4:56213600-56219200	Weak transcription	Primary T cells from cord blood	blood
26	chr4:56213600-56221600	Weak transcription	HMEC	breast
27	chr4:56213600-56223000	Weak transcription	Esophagus	oesophagus
28	chr4:56213600-56223000	Weak transcription	HSMM	muscle
29	chr4:56213600-56224000	Weak transcription	Rectal Smooth Muscle	rectum
30	chr4:56213600-56225600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr4:56213600-56229200	Weak transcription	Fetal Intestine Small	intestine
32	chr4:56213600-56230200	Weak transcription	H9 Cell Line	embryonic stem cell
33	chr4:56213600-56230200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr4:56213600-56242600	Weak transcription	Gastric	stomach
35	chr4:56213800-56214800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr4:56213800-56215000	Enhancers	iPS-15b Cell Line	embryonic stem cell
37	chr4:56213800-56215000	Enhancers	Brain Anterior Caudate	brain
38	chr4:56213800-56215000	Enhancers	Brain Cingulate Gyrus	brain
39	chr4:56213800-56215000	Enhancers	Brain Inferior Temporal Lobe	brain
40	chr4:56213800-56217800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr4:56213800-56218600	Weak transcription	HUES6 Cell Line	embryonic stem cell
42	chr4:56213800-56221600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr4:56213800-56223000	Weak transcription	Stomach Smooth Muscle	stomach
44	chr4:56213800-56225200	Weak transcription	Rectal Mucosa Donor 31	rectum
45	chr4:56213800-56225600	Weak transcription	Left Ventricle	heart
46	chr4:56213800-56227000	Weak transcription	Placenta	Placenta
47	chr4:56213800-56229800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
48	chr4:56213800-56229800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
49	chr4:56213800-56229800	Weak transcription	Fetal Muscle Trunk	muscle
50	chr4:56213800-56231800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links