Variant report

Variant	rs57143172
Chromosome Location	chr9:7149166-7149167
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:7134161..7136244-chr9:7147456..7149239,2	K562	blood:
2	chr9:7149048..7151328-chr9:7152979..7155533,2	K562	blood:
3	chr9:7148888..7150780-chr9:7164097..7166257,2	K562	blood:

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs56754948	1.00[AMR][1000 genomes]
rs57144462	1.00[AMR][1000 genomes]
rs58737745	1.00[AMR][1000 genomes]
rs60385577	1.00[AFR][1000 genomes]
rs73398945	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73398961	1.00[AMR][1000 genomes]
rs73398963	1.00[AMR][1000 genomes]
rs73398971	1.00[AMR][1000 genomes]
rs73400914	1.00[AMR][1000 genomes]
rs73639836	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv892166	chr9:6602821-7222495	Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
2	nsv1023906	chr9:6731786-7372132	Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
3	nsv613259	chr9:7032776-7541338	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats 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 target site	4 gene(s)	inside rSNPs	diseases
4	nsv1015874	chr9:7048807-7434890	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS 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 target site	3 gene(s)	inside rSNPs	diseases
5	nsv539971	chr9:7048807-7434890	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
6	nsv892189	chr9:7091968-7150997	Strong transcription Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv892190	chr9:7094860-7186074	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:7104800-7153200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr9:7128000-7153200	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr9:7129600-7149400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr9:7130200-7154800	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr9:7130600-7152400	Weak transcription	Small Intestine	intestine
6	chr9:7135200-7164800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr9:7136600-7153200	Weak transcription	HepG2	liver
8	chr9:7137800-7149600	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr9:7144800-7150000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr9:7146600-7149800	Strong transcription	Duodenum Mucosa	Duodenum
11	chr9:7146600-7150200	Enhancers	Brain Hippocampus Middle	brain
12	chr9:7146600-7150400	Enhancers	Psoas Muscle	Psoas
13	chr9:7146600-7150800	Enhancers	Fetal Muscle Leg	muscle
14	chr9:7146600-7151000	Enhancers	Left Ventricle	heart
15	chr9:7146600-7151200	Enhancers	Rectal Mucosa Donor 31	rectum
16	chr9:7146800-7150600	Enhancers	Colonic Mucosa	Colon
17	chr9:7146800-7152000	Enhancers	Placenta	Placenta
18	chr9:7147200-7150200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr9:7147200-7152400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr9:7147200-7171000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr9:7147400-7149800	Weak transcription	Rectal Mucosa Donor 29	rectum
22	chr9:7147400-7150200	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr9:7147400-7152000	Weak transcription	NHLF	lung
24	chr9:7147400-7165600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr9:7147400-7174600	Weak transcription	NHEK	skin
26	chr9:7147600-7149400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr9:7147600-7149400	Strong transcription	Adipose Nuclei	Adipose
28	chr9:7147600-7151600	Strong transcription	Fetal Intestine Small	intestine
29	chr9:7147600-7153800	Weak transcription	Brain Germinal Matrix	brain
30	chr9:7147600-7155200	Enhancers	Fetal Heart	heart
31	chr9:7147800-7149200	Strong transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr9:7147800-7149200	ZNF genes & repeats	Lung	lung
33	chr9:7147800-7149200	Strong transcription	Thymus	Thymus
34	chr9:7147800-7149400	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
35	chr9:7147800-7149400	Strong transcription	Fetal Intestine Large	intestine
36	chr9:7147800-7149600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr9:7147800-7150000	Weak transcription	Rectal Smooth Muscle	rectum
38	chr9:7147800-7150400	Weak transcription	HSMMtube	muscle
39	chr9:7147800-7165200	Weak transcription	Duodenum Smooth Muscle	Duodenum
40	chr9:7148000-7149200	Strong transcription	Liver	Liver
41	chr9:7148000-7149200	Weak transcription	Colon Smooth Muscle	Colon
42	chr9:7148000-7149200	Genic enhancers	Right Ventricle	heart
43	chr9:7148000-7149400	Enhancers	Right Atrium	heart
44	chr9:7148000-7149600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr9:7148000-7150000	Weak transcription	Placenta Amnion	Placenta Amnion
46	chr9:7148200-7149600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr9:7148200-7150600	Strong transcription	Fetal Stomach	stomach
48	chr9:7148200-7151200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
49	chr9:7148200-7151600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr9:7148400-7149200	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood

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