Variant report

Variant	rs1418712
Chromosome Location	chr6:119357370-119357371
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	chr6:119356353..119358276-chr6:119400099..119402826,2	K562	blood:
2	chr6:119356776..119359513-chr6:119398681..119401599,2	K562	blood:

Variant related genes	Relation type
ENSG00000111879	Chromatin interaction

Extended variants
information (count: 65 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs10080855	0.86[AMR][1000 genomes]
rs10456919	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1087453	0.82[AMR][1000 genomes]
rs1087454	0.86[AMR][1000 genomes]
rs1087455	0.82[ASN][1000 genomes]
rs11153785	0.82[AMR][1000 genomes]
rs12189950	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12190491	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12190974	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12193093	0.83[ASN][1000 genomes]
rs12194515	0.86[AMR][1000 genomes]
rs12195153	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12195334	0.83[ASN][1000 genomes]
rs12195400	0.83[ASN][1000 genomes]
rs12197931	0.86[AMR][1000 genomes]
rs12200499	0.86[AMR][1000 genomes]
rs12204929	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12214184	0.82[ASN][1000 genomes]
rs12214265	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1342793	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1539434	0.95[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs1591368	0.83[ASN][1000 genomes]
rs1591369	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1775619	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2357022	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2782574	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2797355	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2797357	0.95[ASN][1000 genomes]
rs4946384	0.95[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs55810806	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs55919736	0.83[ASN][1000 genomes]
rs56347939	0.83[ASN][1000 genomes]
rs603770	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6937499	0.95[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs706978	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs706979	0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72953079	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72953080	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72966873	0.86[AMR][1000 genomes]
rs72970448	0.86[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs7745460	0.84[ASN][1000 genomes]
rs7768348	0.91[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs794250	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs794252	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs794253	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs794254	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs794255	1.00[ASN][1000 genomes]
rs794259	0.95[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs794606	0.82[ASN][1000 genomes]
rs794607	0.82[ASN][1000 genomes]
rs794608	0.82[ASN][1000 genomes]
rs794611	0.86[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs797002	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs797017	0.86[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs811201	0.82[ASN][1000 genomes]
rs811584	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9320673	0.95[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs9481871	0.86[AMR][1000 genomes]
rs9481877	0.82[ASN][1000 genomes]
rs9481878	0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs9489540	0.86[AMR][1000 genomes]
rs9489543	0.86[AMR][1000 genomes]
rs9489544	0.82[AMR][1000 genomes]
rs9489547	0.86[AMR][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	nsv1030400	chr6:119320153-119433830	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:119314400-119364400	Weak transcription	Fetal Muscle Trunk	muscle
2	chr6:119352400-119361000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr6:119354000-119361000	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr6:119355400-119358200	Enhancers	HSMM	muscle
5	chr6:119355800-119357400	Enhancers	Brain Hippocampus Middle	brain
6	chr6:119355800-119357600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr6:119355800-119358800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr6:119356000-119357400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr6:119356000-119357800	Enhancers	Muscle Satellite Cultured Cells	--
10	chr6:119356000-119358600	Enhancers	Fetal Lung	lung
11	chr6:119356200-119357400	Enhancers	HSMMtube	muscle
12	chr6:119356400-119357400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
13	chr6:119356400-119357800	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr6:119356400-119357800	Enhancers	Brain Cingulate Gyrus	brain
15	chr6:119356400-119368800	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr6:119356600-119360000	Enhancers	K562	blood
17	chr6:119356600-119360800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr6:119356800-119358000	Weak transcription	Brain Anterior Caudate	brain
19	chr6:119356800-119358600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
20	chr6:119356800-119360800	Weak transcription	Placenta	Placenta
21	chr6:119356800-119366600	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr6:119357000-119357400	Enhancers	H1 Cell Line	embryonic stem cell
23	chr6:119357000-119359200	Weak transcription	Fetal Intestine Large	intestine
24	chr6:119357200-119357400	Enhancers	HUES64 Cell Line	embryonic stem cell
25	chr6:119357200-119357600	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr6:119357200-119357800	Enhancers	HUES6 Cell Line	embryonic stem cell
27	chr6:119357200-119357800	Enhancers	iPS-15b Cell Line	embryonic stem cell
28	chr6:119357200-119357800	Enhancers	iPS-20b Cell Line	embryonic stem cell
29	chr6:119357200-119358400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr6:119357200-119359600	Enhancers	HUES48 Cell Line	embryonic stem cell
31	chr6:119357200-119360800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr6:119357200-119361200	Weak transcription	Adipose Nuclei	Adipose
33	chr6:119357200-119361400	Enhancers	iPS-18 Cell Line	embryonic stem cell

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