Variant report

Variant	rs73190070
Chromosome Location	chr8:8700258-8700259
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs11249894	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11249895	0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs73190071	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73504221	0.83[ASN][1000 genomes]
rs73504222	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 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	nsv1019606	chr8:8353661-8736992	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv539456	chr8:8353661-8736992	Strong transcription Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv995047	chr8:8353662-8857913	Bivalent/Poised TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
5	nsv1022511	chr8:8493992-8737132	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
6	nsv539457	chr8:8493992-8737132	Genic enhancers Enhancers Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
7	nsv831228	chr8:8608387-8790790	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
8	nsv1018828	chr8:8609880-8790660	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
9	nsv1022331	chr8:8610035-8787981	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
10	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
11	nsv890338	chr8:8669622-8707970	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
12	nsv1015437	chr8:8681255-8723798	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
13	nsv1023221	chr8:8695393-8722418	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
14	nsv1024055	chr8:8697249-8721016	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
15	nsv539459	chr8:8697249-8721016	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:8667200-8701600	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr8:8667600-8701000	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr8:8670000-8701200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr8:8670200-8701200	Weak transcription	Duodenum Mucosa	Duodenum
5	chr8:8670400-8705400	Weak transcription	Primary hematopoietic stem cells	blood
6	chr8:8674800-8701800	Weak transcription	Primary T cells from cord blood	blood
7	chr8:8678800-8701600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr8:8679600-8701400	Weak transcription	A549	lung
9	chr8:8679600-8701600	Weak transcription	HepG2	liver
10	chr8:8683200-8701400	Weak transcription	Fetal Intestine Small	intestine
11	chr8:8683800-8701000	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr8:8684200-8700800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr8:8684600-8703800	Weak transcription	Dnd41	blood
14	chr8:8686400-8702000	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr8:8686600-8705600	Weak transcription	Right Atrium	heart
16	chr8:8686800-8702400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr8:8687000-8701400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr8:8687600-8706600	Weak transcription	Lung	lung
19	chr8:8692200-8701200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr8:8692200-8702000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr8:8692200-8717600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr8:8692400-8701000	Weak transcription	Pancreatic Islets	Pancreatic Islet
23	chr8:8692600-8701000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
24	chr8:8692600-8703200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr8:8692600-8707000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr8:8694200-8701600	Weak transcription	Small Intestine	intestine
27	chr8:8695000-8701400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr8:8695200-8701600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr8:8695400-8701400	Weak transcription	NHDF-Ad	bronchial
30	chr8:8695400-8701800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr8:8696000-8700400	Enhancers	Fetal Brain Male	brain
32	chr8:8696000-8701400	Weak transcription	K562	blood
33	chr8:8697200-8704000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr8:8698200-8700400	Enhancers	Right Ventricle	heart
35	chr8:8698600-8700400	Enhancers	Cortex derived primary cultured neurospheres	brain
36	chr8:8698600-8701600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr8:8698800-8700600	Enhancers	Left Ventricle	heart
38	chr8:8699000-8705600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
39	chr8:8699200-8700800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr8:8699200-8702400	Enhancers	Rectal Smooth Muscle	rectum
41	chr8:8699200-8703800	Enhancers	Primary T helper cells PMA-I stimulated	--
42	chr8:8699400-8701000	Weak transcription	Fetal Muscle Leg	muscle
43	chr8:8699400-8701400	Weak transcription	Duodenum Smooth Muscle	Duodenum
44	chr8:8699400-8702000	Weak transcription	Brain Hippocampus Middle	brain
45	chr8:8699400-8705400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
46	chr8:8699400-8729600	Weak transcription	Fetal Stomach	stomach
47	chr8:8699600-8700400	Enhancers	Fetal Heart	heart
48	chr8:8699600-8700800	Weak transcription	Psoas Muscle	Psoas
49	chr8:8699600-8701200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
50	chr8:8699600-8701600	Weak transcription	Brain Angular Gyrus	brain

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