Variant report

Variant	rs6856247
Chromosome Location	chr4:127821347-127821348
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	chr4:127820287..127823577-chr4:127824043..127826421,3	K562	blood:
2	chr4:127821012..127822747-chr4:127823554..127826421,2	K562	blood:

Extended variants
information (count: 118 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:115)

rs_ID	r²[population]
rs10446736	0.85[EUR][1000 genomes]
rs11098902	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11098905	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11721464	0.80[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11723829	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11724587	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11724702	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11731527	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11732835	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11736547	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11942125	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12498197	0.91[AMR][1000 genomes]
rs12503377	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs12504419	0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12508997	0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs12509001	0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs12511029	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12512914	0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13101381	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13104202	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs13107386	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13107479	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13110529	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13111315	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13114288	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs13114331	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs13115066	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13121117	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs13123992	0.83[AMR][1000 genomes]
rs13124612	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13125496	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13129761	0.90[AMR][1000 genomes]
rs13131302	0.91[AMR][1000 genomes]
rs13135503	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13138236	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13139253	0.91[AMR][1000 genomes]
rs13141430	0.86[AMR][1000 genomes]
rs13141720	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13142058	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs13148797	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs13149848	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13151401	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13152329	0.81[EUR][1000 genomes]
rs1472702	0.84[EUR][1000 genomes]
rs1503627	0.91[AMR][1000 genomes]
rs1503632	0.85[EUR][1000 genomes]
rs1503634	0.85[EUR][1000 genomes]
rs1510665	0.85[AMR][1000 genomes]
rs1510668	0.84[ASN][1000 genomes]
rs1510669	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1510672	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1510675	0.83[ASN][1000 genomes]
rs1588463	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1604721	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1604722	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs16997944	0.85[EUR][1000 genomes]
rs17011777	0.91[AMR][1000 genomes]
rs17011779	0.91[AMR][1000 genomes]
rs17011876	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1877066	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1877067	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1877072	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1912521	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1995903	0.84[ASN][1000 genomes]
rs1995906	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1995907	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2048379	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2134643	0.91[AMR][1000 genomes]
rs2221774	0.86[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs2391097	0.91[AMR][1000 genomes]
rs34597806	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4270599	0.85[AMR][1000 genomes]
rs4303993	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4365742	0.85[AMR][1000 genomes]
rs4397007	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4492022	0.85[AMR][1000 genomes]
rs4554089	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4599427	0.88[AMR][1000 genomes]
rs4639084	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4833357	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4833358	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4833360	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4833362	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4834148	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4834151	0.90[AMR][1000 genomes]
rs4834152	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4834153	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4834154	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4834155	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4834156	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs56021645	0.83[AMR][1000 genomes]
rs6534592	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6815811	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6816030	0.81[ASN][1000 genomes]
rs6821148	0.85[AMR][1000 genomes]
rs6822430	0.89[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs6824020	0.83[ASN][1000 genomes]
rs6824257	0.83[ASN][1000 genomes]
rs6831218	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6832255	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6837327	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6844304	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6848070	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6848548	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs71633717	0.85[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs7439947	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7655752	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7656539	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7674389	0.89[AMR][1000 genomes]
rs7677910	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7678163	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7679139	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7685181	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7698395	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9942226	0.80[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv879911	chr4:127646765-127835677	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
2	nsv428773	chr4:127760014-127913973	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv830055	chr4:127794875-127993821	Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 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	chr4:127818800-127821600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr4:127819000-127822200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr4:127819600-127821800	Enhancers	Fetal Muscle Leg	muscle
4	chr4:127819600-127821800	Enhancers	Osteobl	bone
5	chr4:127819600-127822400	Enhancers	NHDF-Ad	bronchial
6	chr4:127819800-127821600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr4:127819800-127821600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr4:127819800-127821600	Enhancers	Cortex derived primary cultured neurospheres	brain
9	chr4:127819800-127821600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr4:127819800-127821600	Enhancers	HSMMtube	muscle
11	chr4:127819800-127821800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr4:127819800-127821800	Enhancers	NHLF	lung
13	chr4:127820000-127821400	Enhancers	Colon Smooth Muscle	Colon
14	chr4:127820000-127821400	Enhancers	HSMM	muscle
15	chr4:127820000-127821600	Enhancers	Aorta	Aorta
16	chr4:127820000-127821800	Enhancers	Muscle Satellite Cultured Cells	--
17	chr4:127820200-127821400	Enhancers	Stomach Smooth Muscle	stomach
18	chr4:127820200-127821400	Enhancers	NH-A	brain
19	chr4:127820200-127821600	Enhancers	NHEK	skin
20	chr4:127820400-127821600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr4:127820600-127821400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr4:127820600-127830000	Weak transcription	Fetal Brain Male	brain
23	chr4:127821200-127823000	Weak transcription	K562	blood

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