Variant report

Variant	rs6810475
Chromosome Location	chr4:54190210-54190211
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:54189381..54192289-chr4:54225390..54227356,2	K562	blood:
2	chr4:54188711..54191602-chr4:54194336..54196357,3	MCF-7	breast:
3	chr4:54181996..54184971-chr4:54188606..54191162,2	K562	blood:
4	chr4:54187902..54191674-chr4:54240790..54245146,4	K562	blood:

Variant related genes	Relation type
ENSG00000145216	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10005221	0.81[ASN][1000 genomes]
rs1481822	0.95[AFR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17082557	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28408605	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28524754	0.94[AFR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs28676739	0.92[AFR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs28704944	0.80[AFR][1000 genomes]
rs28826682	0.98[AFR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs28829603	0.81[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs28865315	0.88[EUR][1000 genomes]
rs28874576	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs55744909	0.80[AFR][1000 genomes]
rs58424801	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62324293	0.96[AFR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6811200	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6835821	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6852755	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73816160	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7680607	0.80[AFR][1000 genomes]
rs9884671	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9994573	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9995661	0.94[AFR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9997095	0.84[AFR][1000 genomes];0.88[EUR][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	nsv1008593	chr4:54120297-54207769	Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:54169800-54216200	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr4:54170600-54230600	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr4:54172600-54215400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr4:54174200-54212600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr4:54180000-54193200	Weak transcription	GM12878-XiMat	blood
6	chr4:54180000-54212800	Weak transcription	Primary B cells from cord blood	blood
7	chr4:54187800-54192200	Enhancers	Liver	Liver
8	chr4:54187800-54212800	Weak transcription	Dnd41	blood
9	chr4:54188200-54195000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr4:54188200-54213800	Weak transcription	Right Ventricle	heart
11	chr4:54188200-54218200	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr4:54188200-54231200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr4:54188400-54190600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr4:54188400-54190800	Weak transcription	Spleen	Spleen
15	chr4:54188400-54192800	Weak transcription	HSMM	muscle
16	chr4:54188400-54193200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr4:54188400-54193400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr4:54188400-54193600	Weak transcription	Lung	lung
19	chr4:54188400-54196000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
20	chr4:54188400-54205600	Weak transcription	Fetal Intestine Small	intestine
21	chr4:54188400-54212800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr4:54188600-54193400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr4:54188600-54196800	Weak transcription	Small Intestine	intestine
24	chr4:54188600-54202800	Weak transcription	Primary T cells from cord blood	blood
25	chr4:54188600-54215400	Weak transcription	Primary T helper cells PMA-I stimulated	--
26	chr4:54189200-54193200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr4:54189200-54193600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr4:54189200-54193800	Weak transcription	NHLF	lung
29	chr4:54189400-54191800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr4:54189600-54192000	Weak transcription	HepG2	liver
31	chr4:54189600-54212800	Weak transcription	Osteobl	bone
32	chr4:54189800-54191600	Weak transcription	NHDF-Ad	bronchial
33	chr4:54189800-54193600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr4:54189800-54206400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr4:54190000-54190400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
36	chr4:54190000-54213800	Weak transcription	HUVEC	blood vessel

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