Variant report

Variant	rs2439644
Chromosome Location	chr8:96226764-96226765
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:96144879..96147244-chr8:96226350..96228191,2	MCF-7	breast:
2	chr8:96220160..96222982-chr8:96225240..96226907,2	K562	blood:
3	chr8:96215901..96218694-chr8:96226457..96227957,2	MCF-7	breast:
4	chr8:96224814..96227323-chr8:96239460..96241166,3	MCF-7	breast:
5	chr8:96148386..96151549-chr8:96224432..96227854,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000175895	Chromatin interaction
ENSG00000253773	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs2514570	1.00[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap]
rs28673830	0.95[ASN][1000 genomes]
rs4735356	0.92[ASN][1000 genomes]
rs730820	1.00[CEU][hapmap];0.90[CHB][hapmap];0.89[JPT][hapmap];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs732068	0.90[CHB][hapmap];0.95[JPT][hapmap];0.80[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs7824657	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs880641	0.84[JPT][hapmap]
rs880642	0.84[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1017301	chr8:95273503-96248352	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	nsv539680	chr8:95273503-96248352	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
3	nsv523655	chr8:96205920-96239113	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	esv16466	chr8:96206151-96243934	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv516035	chr8:96208726-96235451	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	nsv465740	chr8:96211820-96235451	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	nsv611758	chr8:96211820-96235451	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
8	nsv6315	chr8:96216465-96261671	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
9	nsv465741	chr8:96221122-96247835	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
10	nsv611759	chr8:96221122-96247835	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:96214400-96233400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr8:96218800-96227000	Enhancers	Pancreas	Pancrea
3	chr8:96219400-96229600	Enhancers	Fetal Thymus	thymus
4	chr8:96219800-96251800	Enhancers	Primary B cells from peripheral blood	blood
5	chr8:96220000-96227200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr8:96220600-96229400	Enhancers	Primary hematopoietic stem cells	blood
7	chr8:96220800-96228000	Enhancers	Thymus	Thymus
8	chr8:96220800-96229600	Enhancers	Primary B cells from cord blood	blood
9	chr8:96221000-96228400	Enhancers	Primary T cells fromperipheralblood	blood
10	chr8:96221200-96228800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
11	chr8:96222000-96228400	Enhancers	Primary T cells from cord blood	blood
12	chr8:96222400-96227800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
13	chr8:96222600-96227600	Enhancers	Primary T helper cells PMA-I stimulated	--
14	chr8:96222800-96227400	Enhancers	Primary T helper cells fromperipheralblood	blood
15	chr8:96222800-96227400	Enhancers	Primary T killer memory cells from peripheral blood	blood
16	chr8:96223000-96227600	Enhancers	Primary T helper naive cells from peripheral blood	blood
17	chr8:96223200-96228600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr8:96223400-96227200	Enhancers	HMEC	breast
19	chr8:96223600-96228000	Enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr8:96223600-96237200	Weak transcription	Fetal Intestine Small	intestine
21	chr8:96223800-96228800	Enhancers	Primary monocytes fromperipheralblood	blood
22	chr8:96223800-96229200	Enhancers	Primary neutrophils fromperipheralblood	blood
23	chr8:96224000-96227200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr8:96224000-96228800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
25	chr8:96224200-96230000	Weak transcription	Rectal Mucosa Donor 31	rectum
26	chr8:96224600-96228400	Enhancers	Spleen	Spleen
27	chr8:96224800-96226800	Weak transcription	Liver	Liver
28	chr8:96225200-96227600	Enhancers	Lung	lung
29	chr8:96225200-96227600	Enhancers	GM12878-XiMat	blood
30	chr8:96225200-96227800	Enhancers	Skeletal Muscle Female	skeletal muscle
31	chr8:96225200-96229800	Weak transcription	Stomach Mucosa	stomach
32	chr8:96225400-96226800	Enhancers	HSMMtube	muscle
33	chr8:96225400-96227200	Enhancers	HSMM	muscle
34	chr8:96225400-96228800	Weak transcription	HepG2	liver
35	chr8:96225400-96232800	Weak transcription	Esophagus	oesophagus
36	chr8:96225600-96228000	Enhancers	Monocytes-CD14+_RO01746	blood
37	chr8:96225600-96236200	Weak transcription	Gastric	stomach
38	chr8:96226000-96226800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr8:96226000-96226800	Enhancers	NHEK	skin
40	chr8:96226000-96227000	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr8:96226000-96227000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr8:96226000-96227000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr8:96226000-96227000	Enhancers	NH-A	brain
44	chr8:96226000-96227000	Enhancers	NHDF-Ad	bronchial
45	chr8:96226000-96227200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr8:96226000-96227400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr8:96226000-96227400	Enhancers	Skeletal Muscle Male	skeletal muscle
48	chr8:96226000-96227600	Enhancers	Right Ventricle	heart
49	chr8:96226000-96228800	Enhancers	Fetal Muscle Leg	muscle
50	chr8:96226200-96226800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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