Variant report

Variant	rs648995
Chromosome Location	chr6:147846247-147846248
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:147845129..147848092-chr6:147850678..147853838,3	K562	blood:

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs1222119	1.00[CEU][hapmap];0.91[CHB][hapmap];0.86[GIH][hapmap];0.83[MEX][hapmap];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1333714	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1629209	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1631864	0.86[CEU][hapmap]
rs1789696	0.84[CEU][hapmap];0.90[CHB][hapmap];0.89[JPT][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1789697	1.00[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1789699	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1855374	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2780850	1.00[CEU][hapmap];0.94[CHB][hapmap];0.89[JPT][hapmap]
rs34292635	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs471833	1.00[CEU][hapmap];0.95[CHB][hapmap];0.92[CHD][hapmap];0.93[GIH][hapmap];0.91[JPT][hapmap];0.88[MEX][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs472577	0.87[CEU][hapmap]
rs480456	0.94[ASW][hapmap];0.83[CHB][hapmap];0.83[CHD][hapmap];0.87[MEX][hapmap];0.83[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs4896920	0.87[CEU][hapmap]
rs494234	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs494395	0.87[CEU][hapmap]
rs500573	0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs501472	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs522566	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs532364	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs536996	1.00[CEU][hapmap];0.95[CHB][hapmap];0.92[CHD][hapmap];0.93[GIH][hapmap];0.91[JPT][hapmap];0.88[MEX][hapmap];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs537817	1.00[CEU][hapmap];0.95[CHB][hapmap];0.92[CHD][hapmap];0.93[GIH][hapmap];0.91[JPT][hapmap];0.88[MEX][hapmap];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs538563	1.00[CEU][hapmap];0.91[CHB][hapmap];0.91[GIH][hapmap];0.88[MEX][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs540384	0.87[CEU][hapmap]
rs607474	0.87[CEU][hapmap]
rs609152	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs609963	0.94[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs618181	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs623003	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs634979	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs636447	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs637118	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs645201	0.83[EUR][1000 genomes]
rs650375	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs655698	1.00[CEU][hapmap];0.95[CHB][hapmap];0.92[CHD][hapmap];0.93[GIH][hapmap];0.91[JPT][hapmap];0.88[MEX][hapmap];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs660814	1.00[CEU][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs669830	0.87[CEU][hapmap]
rs685322	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6923561	0.87[CEU][hapmap]
rs693879	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv604841	chr6:147832156-148193929	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv1020247	chr6:147834097-148478053	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:147831600-147852000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr6:147832400-147851200	Weak transcription	Fetal Stomach	stomach
3	chr6:147832400-147851800	Weak transcription	Fetal Kidney	kidney
4	chr6:147832600-147851200	Weak transcription	Fetal Lung	lung
5	chr6:147835400-147848200	Weak transcription	Fetal Intestine Small	intestine
6	chr6:147837400-147856400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr6:147838200-147847000	Weak transcription	Liver	Liver
8	chr6:147838800-147851400	Weak transcription	Fetal Intestine Large	intestine
9	chr6:147841800-147846400	Weak transcription	HSMM	muscle
10	chr6:147844000-147851400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr6:147844800-147851200	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr6:147845600-147849200	Weak transcription	HSMMtube	muscle
13	chr6:147845800-147850200	Genic enhancers	Breast Myoepithelial Primary Cells	Breast

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