Variant report

Variant	rs4562684
Chromosome Location	chr1:211793144-211793145
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:211777656..211789537-chr1:211792028..211798981,15	K562	blood:
2	chr1:211751584..211753468-chr1:211792477..211794363,2	K562	blood:
3	chr1:211769278..211771749-chr1:211790049..211793183,3	K562	blood:
4	chr1:211750175..211752449-chr1:211792293..211794953,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000170385	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10157989	0.81[ASN][1000 genomes]
rs10158618	0.81[ASN][1000 genomes]
rs10158723	0.81[ASN][1000 genomes]
rs10158740	0.81[ASN][1000 genomes]
rs11577181	0.81[ASN][1000 genomes]
rs11580557	0.81[ASN][1000 genomes]
rs11590554	0.81[ASN][1000 genomes]
rs12059593	0.84[AFR][1000 genomes]
rs12059673	0.84[AFR][1000 genomes]
rs12086556	0.84[AFR][1000 genomes]
rs12711504	0.81[ASN][1000 genomes]
rs12711505	0.81[ASN][1000 genomes]
rs12711506	0.81[ASN][1000 genomes]
rs12711507	0.81[ASN][1000 genomes]
rs12730869	0.81[ASN][1000 genomes]
rs12751564	0.81[ASN][1000 genomes]
rs12755496	0.81[ASN][1000 genomes]
rs12756676	0.81[ASN][1000 genomes]
rs17017855	0.81[ASN][1000 genomes]
rs28463715	0.84[AFR][1000 genomes]
rs28719917	0.82[ASN][1000 genomes]
rs4345851	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4399227	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4951414	0.85[ASN][1000 genomes]
rs4951417	0.81[ASN][1000 genomes]
rs603227	0.86[ASN][1000 genomes]
rs61851767	0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6540692	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7529914	0.81[ASN][1000 genomes]
rs765202	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832514	chr1:211630247-211794963	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:211785600-211794800	Weak transcription	Brain Anterior Caudate	brain
2	chr1:211787000-211796800	Weak transcription	Gastric	stomach
3	chr1:211787400-211793400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr1:211788200-211794600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr1:211788400-211793400	Weak transcription	Spleen	Spleen
6	chr1:211790200-211794800	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr1:211790200-211794800	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr1:211790400-211794400	Weak transcription	Esophagus	oesophagus
9	chr1:211790400-211794600	Weak transcription	Right Atrium	heart
10	chr1:211790400-211794800	Weak transcription	Right Ventricle	heart
11	chr1:211790400-211795200	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr1:211790400-211796600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr1:211790400-211798400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr1:211790400-211803600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr1:211790600-211794800	Weak transcription	Fetal Muscle Leg	muscle
16	chr1:211790600-211795000	Weak transcription	Adipose Nuclei	Adipose
17	chr1:211791400-211794800	Weak transcription	Left Ventricle	heart
18	chr1:211792200-211793400	Enhancers	Fetal Intestine Large	intestine
19	chr1:211792200-211793400	Enhancers	Fetal Intestine Small	intestine
20	chr1:211792200-211793800	Enhancers	K562	blood
21	chr1:211792600-211793400	Flanking Active TSS	HepG2	liver
22	chr1:211792600-211794200	Enhancers	Primary hematopoietic stem cells short term culture	blood
23	chr1:211793000-211794600	Weak transcription	Liver	Liver

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links