Variant report

Variant	rs28377778
Chromosome Location	chr4:82064234-82064235
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:82063053..82065453-chr4:82073118..82074621,2	MCF-7	breast:
2	chr4:82060392..82065056-chr4:82072063..82075964,4	K562	blood:

Variant related genes	Relation type
ENSG00000138669	Chromatin interaction

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10000303	1.00[EUR][1000 genomes]
rs10014824	1.00[EUR][1000 genomes]
rs10018984	1.00[EUR][1000 genomes]
rs10022306	1.00[EUR][1000 genomes]
rs10023642	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10027298	1.00[EUR][1000 genomes]
rs10028912	1.00[EUR][1000 genomes]
rs10029494	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10031760	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13434668	1.00[EUR][1000 genomes]
rs17005064	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17005067	1.00[EUR][1000 genomes]
rs17005089	1.00[EUR][1000 genomes]
rs17005100	1.00[EUR][1000 genomes]
rs17005101	1.00[EUR][1000 genomes]
rs28539711	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28550356	0.89[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28550971	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28625925	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28664024	0.89[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28665590	1.00[EUR][1000 genomes]
rs28669336	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28727457	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28758819	0.84[AMR][1000 genomes]
rs28810974	1.00[EUR][1000 genomes]
rs28860889	1.00[EUR][1000 genomes]
rs28882451	1.00[EUR][1000 genomes]
rs28888497	1.00[EUR][1000 genomes]
rs4496577	1.00[EUR][1000 genomes]
rs56236182	1.00[EUR][1000 genomes]
rs56347774	1.00[EUR][1000 genomes]
rs58295714	1.00[EUR][1000 genomes]
rs60390550	1.00[EUR][1000 genomes]
rs61676707	1.00[EUR][1000 genomes]
rs6814849	1.00[EUR][1000 genomes]
rs6828846	1.00[EUR][1000 genomes]
rs6837264	1.00[EUR][1000 genomes]
rs6850833	1.00[EUR][1000 genomes]
rs73829535	1.00[EUR][1000 genomes]
rs73829539	1.00[EUR][1000 genomes]
rs73829540	1.00[EUR][1000 genomes]
rs73831298	1.00[EUR][1000 genomes]
rs7655473	1.00[EUR][1000 genomes]

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	nsv999729	chr4:81802554-82627820	Genic enhancers Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	nsv537156	chr4:81802554-82627820	Flanking Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Active TSS ZNF genes & repeats 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	7 gene(s)	inside rSNPs	diseases
3	nsv829984	chr4:81979988-82113977	Flanking Active TSS Enhancers Strong transcription Active TSS Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
4	esv1822437	chr4:82025743-82118996	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 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	chr4:82049800-82065800	Weak transcription	Primary hematopoietic stem cells	blood
2	chr4:82052000-82075000	Weak transcription	Primary T cells fromperipheralblood	blood
3	chr4:82052400-82074400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr4:82052800-82069800	Weak transcription	Fetal Brain Female	brain
5	chr4:82053400-82074800	Weak transcription	Primary T helper cells fromperipheralblood	blood
6	chr4:82054400-82074400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr4:82054600-82065600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr4:82054600-82075000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr4:82055200-82065600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr4:82059600-82074600	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr4:82059600-82075000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr4:82062800-82069000	Strong transcription	Fetal Intestine Large	intestine
13	chr4:82062800-82073600	Weak transcription	Fetal Intestine Small	intestine
14	chr4:82063000-82064800	Enhancers	Rectal Mucosa Donor 31	rectum
15	chr4:82063800-82064400	Enhancers	Muscle Satellite Cultured Cells	--
16	chr4:82063800-82064400	Flanking Active TSS	NHEK	skin
17	chr4:82063800-82064600	Enhancers	NHDF-Ad	bronchial
18	chr4:82063800-82064800	Enhancers	Dnd41	blood
19	chr4:82064000-82064400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr4:82064000-82064400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr4:82064200-82064400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr4:82064200-82064400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr4:82064200-82069400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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