Variant report

Variant	rs2791344
Chromosome Location	chr8:131322492-131322493
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:131320555..131323239-chr8:131323603..131327093,4	MCF-7	breast:
2	chr8:131322070..131324327-chr8:131371483..131374194,2	K562	blood:
3	chr8:131313445..131319102-chr8:131321325..131324984,6	MCF-7	breast:

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs2670873	0.94[CHB][hapmap];0.95[JPT][hapmap];0.87[YRI][hapmap];0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2912191	0.81[JPT][hapmap]
rs6470817	0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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	nsv465810	chr8:131039109-131331012	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	nsv612234	chr8:131039109-131331012	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
5	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
6	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:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:131307000-131329600	Weak transcription	Aorta	Aorta
2	chr8:131310800-131328200	Weak transcription	Lung	lung
3	chr8:131313400-131335000	Weak transcription	Pancreas	Pancrea
4	chr8:131315400-131323000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr8:131315400-131323000	Weak transcription	Brain Angular Gyrus	brain
6	chr8:131315400-131323000	Weak transcription	Brain Cingulate Gyrus	brain
7	chr8:131315400-131323000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr8:131315400-131324200	Weak transcription	Fetal Lung	lung
9	chr8:131315400-131324400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr8:131315400-131325000	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr8:131315400-131326000	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr8:131315400-131326000	Weak transcription	Placenta	Placenta
13	chr8:131315600-131322800	Weak transcription	NH-A	brain
14	chr8:131315600-131323000	Weak transcription	Brain Anterior Caudate	brain
15	chr8:131315600-131326000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr8:131315600-131331600	Weak transcription	Thymus	Thymus
17	chr8:131315600-131342000	Weak transcription	Rectal Smooth Muscle	rectum
18	chr8:131315600-131353400	Weak transcription	Dnd41	blood
19	chr8:131315800-131322800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr8:131316000-131325600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr8:131317400-131322600	Weak transcription	Liver	Liver
22	chr8:131317400-131322800	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr8:131317400-131324800	Weak transcription	Fetal Kidney	kidney
24	chr8:131317400-131326000	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr8:131318000-131323600	Enhancers	Primary monocytes fromperipheralblood	blood
26	chr8:131318400-131325200	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr8:131319000-131324600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr8:131319000-131326000	Weak transcription	Pancreatic Islets	Pancreatic Islet
29	chr8:131319200-131322800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr8:131319200-131323000	Weak transcription	NHLF	lung
31	chr8:131319200-131323800	Enhancers	Primary T helper cells PMA-I stimulated	--
32	chr8:131319200-131326000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr8:131319400-131322600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr8:131319400-131322600	Weak transcription	Skeletal Muscle Female	skeletal muscle
35	chr8:131319400-131322800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr8:131319400-131333600	Weak transcription	HepG2	liver
37	chr8:131319800-131324800	Weak transcription	Colon Smooth Muscle	Colon
38	chr8:131319800-131329800	Weak transcription	Right Ventricle	heart
39	chr8:131320000-131322600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
40	chr8:131320000-131326000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr8:131320000-131326000	Weak transcription	Fetal Muscle Leg	muscle
42	chr8:131320200-131324600	Weak transcription	Primary hematopoietic stem cells	blood
43	chr8:131320400-131322600	Weak transcription	Primary T cells from cord blood	blood
44	chr8:131320400-131324800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
45	chr8:131320400-131325600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr8:131321000-131323400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr8:131321000-131323400	Enhancers	HMEC	breast
48	chr8:131321200-131323200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr8:131321200-131323400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr8:131321200-131323400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links