Variant report

Variant	rs71566479
Chromosome Location	chr6:147835138-147835139
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:147834463..147836309-chr6:147844028..147846046,2	K562	blood:
2	chr6:147832320..147833864-chr6:147834224..147836196,2	K562	blood:
3	chr6:147830521..147832164-chr6:147833225..147837282,3	K562	blood:

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10499248	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13205501	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13207751	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13210148	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13211031	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13211278	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13214443	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13218201	0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13220031	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13220208	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17076897	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34358483	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34790023	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35009077	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35506695	0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35658484	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35987208	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs574551	1.00[AFR][1000 genomes]
rs599429	1.00[AFR][1000 genomes]
rs71547193	0.81[AMR][1000 genomes]
rs71566478	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9688849	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9689689	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:147831400-147836400	Weak transcription	Rectal Smooth Muscle	rectum
2	chr6:147831400-147838800	Weak transcription	Esophagus	oesophagus
3	chr6:147831600-147852000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr6:147832000-147839000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr6:147832400-147836400	Weak transcription	Ovary	ovary
6	chr6:147832400-147844600	Weak transcription	HSMMtube	muscle
7	chr6:147832400-147851200	Weak transcription	Fetal Stomach	stomach
8	chr6:147832400-147851800	Weak transcription	Fetal Kidney	kidney
9	chr6:147832600-147835200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr6:147832600-147837200	Weak transcription	HSMM	muscle
11	chr6:147832600-147851200	Weak transcription	Fetal Lung	lung
12	chr6:147833000-147844400	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr6:147834200-147835400	Strong transcription	Fetal Intestine Small	intestine
14	chr6:147834400-147835400	Transcr. at gene 5' and 3'	Breast Myoepithelial Primary Cells	Breast
15	chr6:147834600-147836600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr6:147834800-147836200	Enhancers	Liver	Liver
17	chr6:147835000-147836600	Weak transcription	Fetal Intestine Large	intestine

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