Variant report

Variant	rs73526401
Chromosome Location	chr8:8965074-8965075
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs59021004	0.92[ASN][1000 genomes]
rs59576472	0.96[ASN][1000 genomes]
rs60366628	0.92[ASN][1000 genomes]
rs6995759	0.96[ASN][1000 genomes]
rs73526352	0.92[ASN][1000 genomes]
rs73526355	0.92[ASN][1000 genomes]
rs73526356	0.92[ASN][1000 genomes]
rs73526358	0.83[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs73526366	0.96[ASN][1000 genomes]
rs73526369	0.96[ASN][1000 genomes]
rs73526377	0.96[ASN][1000 genomes]
rs73526388	0.96[ASN][1000 genomes]
rs73526398	1.00[ASN][1000 genomes]
rs73528107	1.00[ASN][1000 genomes]
rs73528109	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv890331	chr8:8093240-8971100	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv917117	chr8:8621658-9313799	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	nsv1022468	chr8:8857853-9209167	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv539460	chr8:8857853-9209167	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
5	nsv817373	chr8:8857854-9361049	Enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
6	nsv523098	chr8:8944307-8982396	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv526092	chr8:8944307-8982396	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv1022328	chr8:8954003-9061281	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
9	esv2761405	chr8:8960271-8967105	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a
10	nsv610206	chr8:8961017-9162048	Genic enhancers Strong transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:8956800-8968000	Enhancers	Fetal Intestine Large	intestine
2	chr8:8960400-8966600	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr8:8960600-8966800	Weak transcription	Right Atrium	heart
4	chr8:8960800-8967800	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr8:8961000-8966400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr8:8961200-8965600	Weak transcription	K562	blood
7	chr8:8961200-8966400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr8:8961200-8966400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr8:8961400-8966600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr8:8961600-8966400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr8:8961800-8968000	Enhancers	Fetal Heart	heart
12	chr8:8962000-8965800	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr8:8962000-8991400	Weak transcription	Psoas Muscle	Psoas
14	chr8:8962200-8966600	Weak transcription	Left Ventricle	heart
15	chr8:8962200-8967400	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr8:8962600-8965800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr8:8962800-8966000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr8:8962800-8966400	Weak transcription	Fetal Lung	lung
19	chr8:8963200-8965600	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr8:8963800-8965600	Weak transcription	Fetal Intestine Small	intestine
21	chr8:8963800-8968000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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