Variant report

Variant	rs2791354
Chromosome Location	chr8:131363241-131363242
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:131257852..131260097-chr8:131363084..131365301,2	K562	blood:
2	chr8:131362151..131363810-chr8:131363977..131365587,2	MCF-7	breast:
3	chr8:131356285..131362086-chr8:131362586..131365729,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000153317	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs1340019	0.85[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs16893265	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes]
rs16904256	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2670876	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs2670881	1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs2670882	1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs2670886	1.00[JPT][hapmap]
rs2791339	1.00[JPT][hapmap]
rs2791346	0.82[CHB][hapmap];1.00[JPT][hapmap];0.90[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs2994295	1.00[JPT][hapmap]
rs2994298	0.82[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.81[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs3924350	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4498576	0.85[JPT][hapmap]
rs4733570	1.00[JPT][hapmap]
rs7002892	1.00[YRI][hapmap]
rs7825499	1.00[JPT][hapmap]
rs7838372	1.00[JPT][hapmap]
rs9694314	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869334	chr8:131025093-131651487	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv915580	chr8:131025093-131667578	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv533085	chr8:131042781-131755007	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv870148	chr8:131206342-131373989	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:131346400-131368800	Weak transcription	Fetal Intestine Small	intestine
2	chr8:131347600-131368000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr8:131353800-131367600	Weak transcription	Dnd41	blood
4	chr8:131354400-131363400	Enhancers	Fetal Heart	heart
5	chr8:131354400-131368800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr8:131354400-131368800	Weak transcription	Colonic Mucosa	Colon
7	chr8:131354800-131363400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr8:131355000-131365800	Enhancers	Primary T helper cells PMA-I stimulated	--
9	chr8:131355400-131365200	Enhancers	Primary T helper cells fromperipheralblood	blood
10	chr8:131355400-131368400	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr8:131355400-131369000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr8:131355600-131364000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr8:131355600-131369400	Weak transcription	Hela-S3	cervix
14	chr8:131356800-131363600	Enhancers	Adipose Nuclei	Adipose
15	chr8:131357000-131368400	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr8:131357200-131365000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr8:131357400-131364000	Enhancers	Left Ventricle	heart
18	chr8:131357400-131364200	Enhancers	Skeletal Muscle Female	skeletal muscle
19	chr8:131357600-131364800	Enhancers	Right Atrium	heart
20	chr8:131357600-131364800	Enhancers	Skeletal Muscle Male	skeletal muscle
21	chr8:131357600-131365000	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr8:131358000-131369000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr8:131358200-131363600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr8:131358400-131363400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr8:131358400-131363400	Genic enhancers	HSMM	muscle
26	chr8:131358400-131363600	Enhancers	NHDF-Ad	bronchial
27	chr8:131358600-131363400	Genic enhancers	Monocytes-CD14+_RO01746	blood
28	chr8:131358600-131364600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr8:131358800-131367600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr8:131358800-131368200	Weak transcription	Pancreatic Islets	Pancreatic Islet
31	chr8:131359000-131369000	Weak transcription	Esophagus	oesophagus
32	chr8:131359200-131364600	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr8:131359400-131364400	Enhancers	Right Ventricle	heart
34	chr8:131359600-131368000	Weak transcription	Primary hematopoietic stem cells	blood
35	chr8:131359600-131368600	Weak transcription	Liver	Liver
36	chr8:131359800-131363600	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr8:131359800-131366400	Weak transcription	Fetal Brain Male	brain
38	chr8:131359800-131368800	Weak transcription	Fetal Lung	lung
39	chr8:131359800-131369000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr8:131359800-131369600	Weak transcription	Fetal Kidney	kidney
41	chr8:131360000-131363800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr8:131360000-131365800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr8:131360000-131368400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
44	chr8:131360000-131368800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr8:131360000-131369000	Weak transcription	HUES6 Cell Line	embryonic stem cell
46	chr8:131360000-131369000	Weak transcription	HUES64 Cell Line	embryonic stem cell
47	chr8:131360000-131369200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr8:131360000-131369400	Weak transcription	H9 Cell Line	embryonic stem cell
49	chr8:131360200-131363400	Weak transcription	Cortex derived primary cultured neurospheres	brain
50	chr8:131360200-131369000	Weak transcription	HUES48 Cell Line	embryonic stem cell

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