Variant report

Variant	rs73192207
Chromosome Location	chr8:8737354-8737355
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:8736985..8740152-chr8:8748515..8752474,4	K562	blood:
2	chr8:8733559..8735231-chr8:8736317..8738826,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000147324	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs56288708	0.83[EUR][1000 genomes]
rs73184220	1.00[EUR][1000 genomes]
rs73184229	0.90[EUR][1000 genomes]
rs73190081	1.00[EUR][1000 genomes]
rs73190090	1.00[EUR][1000 genomes]
rs73190097	1.00[EUR][1000 genomes]
rs73190098	1.00[EUR][1000 genomes]
rs73190100	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	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	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
3	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
4	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
5	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
6	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
7	esv2757257	chr8:8707639-8747894	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
8	esv2759591	chr8:8707639-8747894	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
9	nsv818595	chr8:8712895-8752684	Enhancers Active TSS Flanking Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
10	nsv1030977	chr8:8725992-8739514	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
11	nsv1026305	chr8:8726128-8739514	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:8718400-8742200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr8:8726800-8737600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr8:8726800-8737600	Weak transcription	NHEK	skin
4	chr8:8730400-8742400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
5	chr8:8730600-8737600	Weak transcription	Lung	lung
6	chr8:8730600-8738000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr8:8730600-8738800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr8:8730600-8738800	Weak transcription	GM12878-XiMat	blood
9	chr8:8730600-8742000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr8:8730600-8742000	Weak transcription	K562	blood
11	chr8:8730800-8737600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr8:8730800-8737600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr8:8730800-8737600	Weak transcription	Right Atrium	heart
14	chr8:8730800-8738400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr8:8730800-8742600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr8:8730800-8747600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr8:8731000-8742000	Weak transcription	Fetal Heart	heart
18	chr8:8731000-8742200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr8:8731000-8745200	Weak transcription	HUVEC	blood vessel
20	chr8:8731000-8745600	Weak transcription	Primary B cells from cord blood	blood
21	chr8:8731200-8737800	Weak transcription	NHLF	lung
22	chr8:8731400-8745400	Weak transcription	Primary hematopoietic stem cells	blood
23	chr8:8731600-8737800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr8:8731800-8741800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr8:8732000-8741800	Weak transcription	Brain Germinal Matrix	brain
26	chr8:8732200-8738600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr8:8732600-8737600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr8:8732600-8745600	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr8:8732800-8737400	Weak transcription	Primary T cells from cord blood	blood
30	chr8:8732800-8737600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr8:8732800-8739400	Weak transcription	Fetal Lung	lung
32	chr8:8732800-8741800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr8:8732800-8742600	Weak transcription	Pancreatic Islets	Pancreatic Islet
34	chr8:8733200-8737800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr8:8733200-8742000	Weak transcription	Liver	Liver
36	chr8:8733400-8737800	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr8:8733600-8737600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
38	chr8:8733600-8739800	Genic enhancers	Dnd41	blood
39	chr8:8733600-8742000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr8:8735000-8737400	Enhancers	Sigmoid Colon	Sigmoid Colon
41	chr8:8735000-8738200	Enhancers	HUES48 Cell Line	embryonic stem cell
42	chr8:8735000-8739000	Enhancers	HUES6 Cell Line	embryonic stem cell
43	chr8:8735200-8738400	Enhancers	HUES64 Cell Line	embryonic stem cell
44	chr8:8735200-8745200	Enhancers	Primary T helper cells fromperipheralblood	blood
45	chr8:8735400-8737600	Weak transcription	Fetal Stomach	stomach
46	chr8:8735400-8738400	Weak transcription	Brain Inferior Temporal Lobe	brain
47	chr8:8735400-8742000	Weak transcription	HSMM	muscle
48	chr8:8735600-8737600	Weak transcription	Rectal Smooth Muscle	rectum
49	chr8:8735600-8737800	Weak transcription	Skeletal Muscle Female	skeletal muscle
50	chr8:8735600-8738000	Weak transcription	Brain Angular Gyrus	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links