Variant report

Variant	rs330070
Chromosome Location	chr8:9160984-9160985
allele	A/C
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:14)

rs_ID	r²[population]
rs189084	0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs330062	0.93[ASN][1000 genomes]
rs330063	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs330065	0.99[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs330066	0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs330067	0.97[ASN][1000 genomes]
rs330068	0.97[ASN][1000 genomes]
rs330069	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs330073	0.90[AFR][1000 genomes];0.81[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs330075	0.95[ASN][1000 genomes]
rs330076	0.80[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs330077	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs330078	0.87[ASN][1000 genomes]
rs69526	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][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:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:9153200-9174600	Weak transcription	Right Atrium	heart
2	chr8:9159600-9162800	Enhancers	Fetal Intestine Small	intestine
3	chr8:9159800-9161200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr8:9159800-9161200	Enhancers	iPS-20b Cell Line	embryonic stem cell
5	chr8:9159800-9162600	Enhancers	Fetal Heart	heart
6	chr8:9160200-9161000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr8:9160200-9161000	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr8:9160200-9161200	Enhancers	H1 Cell Line	embryonic stem cell
9	chr8:9160200-9161600	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr8:9160200-9162200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr8:9160200-9163000	Enhancers	Fetal Intestine Large	intestine
12	chr8:9160400-9161200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr8:9160400-9161200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr8:9160400-9161200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr8:9160400-9161200	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr8:9160400-9161200	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr8:9160400-9161200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr8:9160400-9161200	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr8:9160400-9161200	Enhancers	Gastric	stomach
20	chr8:9160400-9161600	Enhancers	HMEC	breast
21	chr8:9160600-9161200	Enhancers	Esophagus	oesophagus
22	chr8:9160600-9161200	Enhancers	Left Ventricle	heart
23	chr8:9160600-9161200	Enhancers	Ovary	ovary
24	chr8:9160600-9161200	Enhancers	Placenta Amnion	Placenta Amnion
25	chr8:9160600-9161200	Flanking Active TSS	NHEK	skin
26	chr8:9160600-9161600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr8:9160800-9161200	Enhancers	H9 Cell Line	embryonic stem cell
28	chr8:9160800-9161200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr8:9160800-9161200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr8:9160800-9161200	Enhancers	Pancreas	Pancrea
31	chr8:9160800-9161400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr8:9160800-9161400	Flanking Active TSS	HepG2	liver
33	chr8:9160800-9162000	Enhancers	A549	lung

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