Variant report

Variant	rs1004743
Chromosome Location	chr8:9160405-9160406
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10102655	1.00[EUR][1000 genomes]
rs12335194	1.00[EUR][1000 genomes]
rs17149862	1.00[EUR][1000 genomes]
rs28499198	1.00[EUR][1000 genomes]
rs4841136	1.00[EUR][1000 genomes]
rs4841137	1.00[EUR][1000 genomes]
rs7843511	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	nsv949434	chr8:8993551-9318404	Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
7	nsv1018847	chr8:9017110-9216354	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
8	nsv1022967	chr8:9023771-9261351	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
9	nsv539462	chr8:9023771-9261351	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
10	nsv530864	chr8:9097498-9914548	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
11	nsv497927	chr8:9097611-9544519	Flanking Active TSS Enhancers Strong transcription Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:9153200-9160600	Weak transcription	Left Ventricle	heart
2	chr8:9153200-9174600	Weak transcription	Right Atrium	heart
3	chr8:9159600-9162800	Enhancers	Fetal Intestine Small	intestine
4	chr8:9159800-9161200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr8:9159800-9161200	Enhancers	iPS-20b Cell Line	embryonic stem cell
6	chr8:9159800-9162600	Enhancers	Fetal Heart	heart
7	chr8:9160200-9160600	Enhancers	NHEK	skin
8	chr8:9160200-9160800	Bivalent Enhancer	H9 Cell Line	embryonic stem cell
9	chr8:9160200-9160800	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr8:9160200-9160800	Enhancers	HepG2	liver
11	chr8:9160200-9161000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr8:9160200-9161000	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr8:9160200-9161200	Enhancers	H1 Cell Line	embryonic stem cell
14	chr8:9160200-9161600	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr8:9160200-9162200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr8:9160200-9163000	Enhancers	Fetal Intestine Large	intestine
17	chr8:9160400-9160800	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chr8:9160400-9160800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr8:9160400-9161200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr8:9160400-9161200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr8:9160400-9161200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr8:9160400-9161200	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr8:9160400-9161200	Enhancers	iPS-18 Cell Line	embryonic stem cell
24	chr8:9160400-9161200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr8:9160400-9161200	Enhancers	Breast Myoepithelial Primary Cells	Breast
26	chr8:9160400-9161200	Enhancers	Gastric	stomach
27	chr8:9160400-9161600	Enhancers	HMEC	breast

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