Variant report

Variant	rs73522592
Chromosome Location	chr8:8861989-8861990
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:8743895..8745799-chr8:8861981..8863756,2	K562	blood:
2	chr8:8756284..8757870-chr8:8861137..8863458,2	K562	blood:
3	chr8:8860553..8862183-chr8:9011362..9013111,2	K562	blood:
4	chr8:8608069..8609942-chr8:8861282..8862933,2	MCF-7	breast:
5	chr8:8859472..8863506-chr8:8866779..8870820,4	MCF-7	breast:
6	chr8:8859158..8867027-chr8:8867199..8874373,17	K562	blood:

Variant related genes	Relation type
ENSG00000104626	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs59635029	1.00[AMR][1000 genomes]
rs60274012	0.82[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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	nsv831229	chr8:8751523-8926235	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	nsv610205	chr8:8799111-8891644	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	n/a
5	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
6	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
7	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
8	esv3428911	chr8:8861935-8862241	Weak transcription Flanking Active TSS Enhancers Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:8859600-8862000	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr8:8859600-8862000	Active TSS	Rectal Mucosa Donor 29	rectum
3	chr8:8859800-8862000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr8:8859800-8862000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr8:8859800-8862000	Active TSS	HUES48 Cell Line	embryonic stem cell
6	chr8:8859800-8862000	Active TSS	HUES6 Cell Line	embryonic stem cell
7	chr8:8860000-8862000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr8:8860000-8863400	Active TSS	K562	blood
9	chr8:8860200-8862000	Active TSS	HUES64 Cell Line	embryonic stem cell
10	chr8:8860200-8862200	Active TSS	Hela-S3	cervix
11	chr8:8860600-8862000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr8:8860800-8862000	Flanking Active TSS	HUVEC	blood vessel
13	chr8:8860800-8862200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
14	chr8:8861000-8862000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
15	chr8:8861000-8862000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr8:8861000-8862000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
17	chr8:8861000-8862000	Flanking Active TSS	Dnd41	blood
18	chr8:8861200-8862000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr8:8861200-8862000	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
20	chr8:8861200-8862000	Enhancers	Placenta Amnion	Placenta Amnion
21	chr8:8861200-8862200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr8:8861200-8862400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr8:8861200-8892400	Weak transcription	Aorta	Aorta
24	chr8:8861400-8862000	Enhancers	Primary T helper naive cells from peripheral blood	blood
25	chr8:8861400-8862000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
26	chr8:8861400-8862000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr8:8861400-8862000	Flanking Active TSS	A549	lung
28	chr8:8861400-8862000	Flanking Active TSS	HMEC	breast
29	chr8:8861400-8862200	Enhancers	Primary B cells from cord blood	blood
30	chr8:8861400-8862200	Enhancers	Primary T cells fromperipheralblood	blood
31	chr8:8861400-8907000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
32	chr8:8861600-8862000	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr8:8861600-8862000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr8:8861600-8862000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr8:8861600-8862000	Enhancers	Primary hematopoietic stem cells	blood
36	chr8:8861600-8862000	Enhancers	Liver	Liver
37	chr8:8861600-8862200	Enhancers	Primary T helper cells fromperipheralblood	blood
38	chr8:8861600-8862200	Enhancers	Left Ventricle	heart
39	chr8:8861600-8862200	Enhancers	Lung	lung
40	chr8:8861600-8863600	Weak transcription	Pancreatic Islets	Pancreatic Islet
41	chr8:8861600-8863800	Weak transcription	Fetal Intestine Large	intestine
42	chr8:8861600-8866600	Weak transcription	Fetal Muscle Trunk	muscle
43	chr8:8861600-8866600	Weak transcription	Sigmoid Colon	Sigmoid Colon
44	chr8:8861600-8868200	Weak transcription	Brain Substantia Nigra	brain
45	chr8:8861600-8870600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr8:8861600-8876200	Weak transcription	Esophagus	oesophagus
47	chr8:8861600-8878600	Weak transcription	Colon Smooth Muscle	Colon
48	chr8:8861600-8885600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr8:8861800-8862000	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr8:8861800-8862000	Active TSS	iPS-18 Cell Line	embryonic stem cell

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