Variant report

Variant	rs6857744
Chromosome Location	chr4:54189634-54189635
allele	A/G
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: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs11724062	0.81[EUR][1000 genomes]
rs11724781	0.94[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11725172	0.81[EUR][1000 genomes]
rs13146499	0.81[AFR][1000 genomes]
rs1383981	0.82[EUR][1000 genomes]
rs17654608	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1842658	0.81[EUR][1000 genomes]
rs2412401	0.85[ASN][1000 genomes]
rs28640919	0.85[ASN][1000 genomes]
rs28832663	0.81[EUR][1000 genomes]
rs28876828	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs34690074	0.85[AFR][1000 genomes];0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4557334	0.80[ASN][1000 genomes]
rs4571396	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4864737	0.86[AFR][1000 genomes]
rs4864742	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4864749	0.83[EUR][1000 genomes]
rs6554075	0.84[ASN][1000 genomes]
rs6554092	0.82[EUR][1000 genomes]
rs6554093	0.82[EUR][1000 genomes]
rs6554098	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6813560	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6820250	0.87[EUR][1000 genomes]
rs6821328	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6827392	0.83[ASN][1000 genomes]
rs751266	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7683984	0.81[EUR][1000 genomes]
rs900110	0.81[EUR][1000 genomes]
rs9759746	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9990771	0.81[EUR][1000 genomes]
rs9998376	0.82[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:37 , 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	chr4:54187600-54189800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr4:54187800-54192200	Enhancers	Liver	Liver
9	chr4:54187800-54212800	Weak transcription	Dnd41	blood
10	chr4:54188000-54189800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr4:54188200-54190000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr4:54188200-54190000	Enhancers	HUVEC	blood vessel
13	chr4:54188200-54195000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr4:54188200-54213800	Weak transcription	Right Ventricle	heart
15	chr4:54188200-54218200	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr4:54188200-54231200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr4:54188400-54189800	Enhancers	NHDF-Ad	bronchial
18	chr4:54188400-54190600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr4:54188400-54190800	Weak transcription	Spleen	Spleen
20	chr4:54188400-54192800	Weak transcription	HSMM	muscle
21	chr4:54188400-54193200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr4:54188400-54193400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr4:54188400-54193600	Weak transcription	Lung	lung
24	chr4:54188400-54196000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
25	chr4:54188400-54205600	Weak transcription	Fetal Intestine Small	intestine
26	chr4:54188400-54212800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr4:54188600-54190000	Weak transcription	Left Ventricle	heart
28	chr4:54188600-54193400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr4:54188600-54196800	Weak transcription	Small Intestine	intestine
30	chr4:54188600-54202800	Weak transcription	Primary T cells from cord blood	blood
31	chr4:54188600-54215400	Weak transcription	Primary T helper cells PMA-I stimulated	--
32	chr4:54189200-54193200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr4:54189200-54193600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr4:54189200-54193800	Weak transcription	NHLF	lung
35	chr4:54189400-54191800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr4:54189600-54192000	Weak transcription	HepG2	liver
37	chr4:54189600-54212800	Weak transcription	Osteobl	bone

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