Variant report

Variant	rs28595141
Chromosome Location	chr9:137024712-137024713
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:137024298..137026037-chr9:137028347..137030112,2	K562	blood:
2	chr9:137024514..137025058-chr9:141013083..141013583,2	HCT-116	colon:
3	chr9:136999039..137001797-chr9:137024529..137028610,4	MCF-7	breast:
4	chr9:137014654..137017055-chr9:137022385..137024751,2	MCF-7	breast:
5	chr9:136999313..137005335-chr9:137022855..137025608,5	K562	blood:
6	chr9:137016596..137020478-chr9:137022526..137026259,4	K562	blood:
7	chr9:137024298..137027032-chr9:137027722..137030112,3	K562	blood:
8	chr9:137013921..137016554-chr9:137022238..137026301,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000196363	Chromatin interaction
ENSG00000273249	Chromatin interaction
ENSG00000221676	Chromatin interaction

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs28377785	1.00[EUR][1000 genomes]
rs28421319	1.00[EUR][1000 genomes]
rs28425680	1.00[EUR][1000 genomes]
rs28434714	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28436125	1.00[EUR][1000 genomes]
rs28488634	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28538491	0.99[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28540578	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28562287	1.00[EUR][1000 genomes]
rs28565058	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28585632	1.00[EUR][1000 genomes]
rs28593202	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28594106	1.00[EUR][1000 genomes]
rs28626085	1.00[EUR][1000 genomes]
rs28626885	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28637300	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28654988	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28657441	1.00[EUR][1000 genomes]
rs28673958	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28687115	1.00[EUR][1000 genomes]
rs28687158	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs28701738	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28705949	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28715994	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28733640	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28740804	0.95[AFR][1000 genomes]
rs28756160	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28759300	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34022301	1.00[EUR][1000 genomes]
rs34031108	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34062061	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34169579	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34259931	0.99[AFR][1000 genomes];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs34350861	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34515929	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34523253	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34856382	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35158191	1.00[EUR][1000 genomes]
rs35237188	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35370793	1.00[EUR][1000 genomes]
rs35420166	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35962164	1.00[EUR][1000 genomes]
rs35985804	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs36029182	1.00[EUR][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	nsv894138	chr9:136839840-137093168	Strong transcription Genic enhancers Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv825148	chr9:136848471-137025632	Flanking Bivalent TSS/Enh Active TSS Strong transcription Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv1048571	chr9:136872166-137265444	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
4	nsv894148	chr9:136874066-137093168	Enhancers Strong transcription Weak transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
5	nsv894151	chr9:136887757-137397609	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats 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	57 gene(s)	inside rSNPs	diseases
6	nsv894155	chr9:136969689-137364866	Active TSS Enhancers Bivalent Enhancer Genic enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	43 gene(s)	inside rSNPs	diseases
7	esv1793302	chr9:136990615-137390602	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	44 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:137003600-137024800	Strong transcription	H9 Cell Line	embryonic stem cell
2	chr9:137004000-137024800	Strong transcription	Primary T cells from cord blood	blood
3	chr9:137004200-137024800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
4	chr9:137004200-137024800	Strong transcription	Primary monocytes fromperipheralblood	blood
5	chr9:137004200-137025000	Strong transcription	HUES48 Cell Line	embryonic stem cell
6	chr9:137004200-137025000	Strong transcription	Monocytes-CD14+_RO01746	blood
7	chr9:137004200-137026000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
8	chr9:137004400-137024800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr9:137004400-137025800	Strong transcription	H1 Cell Line	embryonic stem cell
10	chr9:137004400-137025800	Strong transcription	Fetal Thymus	thymus
11	chr9:137004600-137024800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr9:137004600-137024800	Strong transcription	Gastric	stomach
13	chr9:137004600-137025000	Strong transcription	Placenta Amnion	Placenta Amnion
14	chr9:137004600-137025000	Strong transcription	Dnd41	blood
15	chr9:137004600-137025800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr9:137004600-137026000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr9:137004600-137026200	Strong transcription	Fetal Intestine Large	intestine
18	chr9:137004600-137026200	Strong transcription	Hela-S3	cervix
19	chr9:137004600-137026400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr9:137004800-137025000	Strong transcription	Primary T cells fromperipheralblood	blood
21	chr9:137004800-137025000	Strong transcription	Fetal Brain Female	brain
22	chr9:137004800-137025600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr9:137004800-137026400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr9:137004800-137026400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr9:137005000-137025000	Strong transcription	Cortex derived primary cultured neurospheres	brain
26	chr9:137005000-137025000	Strong transcription	Sigmoid Colon	Sigmoid Colon
27	chr9:137005000-137025200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr9:137005000-137025400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr9:137005000-137025600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr9:137005000-137026200	Strong transcription	Placenta	Placenta
31	chr9:137005000-137026400	Strong transcription	Brain Germinal Matrix	brain
32	chr9:137005200-137024800	Strong transcription	Rectal Mucosa Donor 29	rectum
33	chr9:137005200-137025000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr9:137005200-137025000	Strong transcription	Left Ventricle	heart
35	chr9:137005200-137025000	Strong transcription	Right Ventricle	heart
36	chr9:137005200-137025600	Strong transcription	Lung	lung
37	chr9:137005200-137025800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr9:137005200-137026000	Strong transcription	Fetal Intestine Small	intestine
39	chr9:137005600-137024800	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr9:137005600-137024800	Strong transcription	Muscle Satellite Cultured Cells	--
41	chr9:137005600-137025000	Strong transcription	Pancreas	Pancrea
42	chr9:137005800-137024800	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
43	chr9:137005800-137027000	Strong transcription	Fetal Stomach	stomach
44	chr9:137007000-137026000	Strong transcription	HepG2	liver
45	chr9:137007400-137027600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
46	chr9:137009600-137027600	Weak transcription	Fetal Brain Male	brain
47	chr9:137010600-137027600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr9:137011000-137026200	Strong transcription	Fetal Muscle Leg	muscle
49	chr9:137012000-137025600	Strong transcription	Esophagus	oesophagus
50	chr9:137012600-137025600	Strong transcription	NHEK	skin

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