Variant report

Variant	rs2184457
Chromosome Location	chr6:119359426-119359427
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:119348800..119350573-chr6:119357761..119359797,2	K562	blood:
2	chr6:119255593..119258017-chr6:119358336..119360410,2	K562	blood:
3	chr6:119356776..119359513-chr6:119398681..119401599,2	K562	blood:
4	chr6:119357800..119360745-chr6:119397203..119399369,2	K562	blood:
5	chr6:119333259..119336031-chr6:119357744..119360082,2	K562	blood:

Variant related genes	Relation type
ENSG00000111879	Chromatin interaction
ENSG00000253194	Chromatin interaction
ENSG00000111877	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs1288527	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1334921	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1334923	1.00[EUR][1000 genomes]
rs1413907	1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1762192	1.00[EUR][1000 genomes]
rs2797353	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2797354	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2797362	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs586708	1.00[EUR][1000 genomes]
rs59123354	1.00[EUR][1000 genomes]
rs60554369	1.00[EUR][1000 genomes]
rs607092	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs608435	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs617874	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs637322	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs651781	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs659411	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs660068	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs673507	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6903032	1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6907441	1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6924394	1.00[EUR][1000 genomes]
rs73519453	1.00[EUR][1000 genomes]
rs73519455	1.00[EUR][1000 genomes]
rs73521373	1.00[EUR][1000 genomes]
rs73521381	1.00[EUR][1000 genomes]
rs73523318	1.00[EUR][1000 genomes]
rs73523320	1.00[EUR][1000 genomes]
rs73523339	1.00[EUR][1000 genomes]
rs73523343	1.00[EUR][1000 genomes]
rs73523351	1.00[EUR][1000 genomes]
rs73523361	1.00[EUR][1000 genomes]
rs73523365	1.00[EUR][1000 genomes]
rs73523382	0.92[AFR][1000 genomes]
rs794256	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs794265	1.00[EUR][1000 genomes]
rs807807	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9401100	1.00[EUR][1000 genomes]
rs9885892	1.00[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	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:24 , 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	chr6:119356400-119368800	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr6:119356600-119360000	Enhancers	K562	blood
6	chr6:119356600-119360800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr6:119356800-119360800	Weak transcription	Placenta	Placenta
8	chr6:119356800-119366600	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr6:119357200-119359600	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr6:119357200-119360800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr6:119357200-119361200	Weak transcription	Adipose Nuclei	Adipose
12	chr6:119357200-119361400	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr6:119357400-119361600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr6:119357400-119373400	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr6:119357800-119361400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr6:119358000-119363400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr6:119358400-119360000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr6:119358600-119360600	Weak transcription	Fetal Lung	lung
19	chr6:119359000-119359600	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr6:119359200-119359600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
21	chr6:119359200-119359800	Enhancers	iPS-15b Cell Line	embryonic stem cell
22	chr6:119359400-119359600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr6:119359400-119360000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
24	chr6:119359400-119364400	Weak transcription	HUES64 Cell Line	embryonic stem cell

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