Variant report

Variant	rs2044899
Chromosome Location	chr8:96084835-96084836
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:96082478..96088281-chr8:96279501..96283230,8	MCF-7	breast:
2	chr8:96033508..96040236-chr8:96084539..96089897,8	MCF-7	breast:
3	chr8:96037199..96039610-chr8:96084206..96086584,2	K562	blood:
4	chr8:96082201..96091738-chr8:96143838..96148400,13	MCF-7	breast:
5	chr8:96081666..96087784-chr8:96143058..96146914,11	MCF-7	breast:
6	chr8:96077629..96090166-chr8:96105796..96116852,50	MCF-7	breast:
7	chr8:95907632..95909697-chr8:96084733..96086751,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000175305	Chromatin interaction
ENSG00000253773	Chromatin interaction
ENSG00000156170	Chromatin interaction
ENSG00000175895	Chromatin interaction
ENSG00000156172	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11778995	0.85[AFR][1000 genomes]
rs11785698	0.81[JPT][hapmap];0.80[YRI][hapmap]
rs1878736	0.90[ASN][1000 genomes]
rs2599702	0.81[JPT][hapmap]
rs2599704	1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs2599705	1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs2678825	1.00[CHB][hapmap];0.92[JPT][hapmap];0.90[ASN][1000 genomes]
rs2678826	1.00[CHB][hapmap];0.93[JPT][hapmap];0.90[ASN][1000 genomes]
rs4641029	0.85[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs6980872	0.83[AFR][1000 genomes]
rs6982086	0.80[JPT][hapmap];0.88[YRI][hapmap];0.82[AFR][1000 genomes]
rs7002090	0.81[JPT][hapmap];0.85[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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	nsv508520	chr8:95939373-96140068	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
4	nsv891205	chr8:96062601-96115476	Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	26 gene(s)	inside rSNPs	diseases
5	esv1808302	chr8:96079879-96085479	Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:96038400-96085200	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr8:96071200-96085000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr8:96072400-96085000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr8:96080000-96085200	Weak transcription	Lung	lung
5	chr8:96080200-96085000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr8:96080200-96085000	Weak transcription	Right Ventricle	heart
7	chr8:96080200-96085200	Weak transcription	Pancreas	Pancrea
8	chr8:96080200-96085200	Weak transcription	Right Atrium	heart
9	chr8:96080200-96101800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr8:96081400-96085200	Weak transcription	Brain Anterior Caudate	brain
11	chr8:96081400-96086600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr8:96081600-96085000	Weak transcription	Colonic Mucosa	Colon
13	chr8:96081600-96085200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr8:96081600-96087800	Weak transcription	A549	lung
15	chr8:96082400-96085400	Weak transcription	HMEC	breast
16	chr8:96083000-96085400	Enhancers	Placenta	Placenta
17	chr8:96084000-96085200	Enhancers	Esophagus	oesophagus
18	chr8:96084000-96086600	Weak transcription	K562	blood
19	chr8:96084200-96085200	Enhancers	Primary hematopoietic stem cells	blood
20	chr8:96084200-96086000	Weak transcription	HepG2	liver
21	chr8:96084400-96085200	Enhancers	Gastric	stomach
22	chr8:96084400-96087400	Flanking Active TSS	Primary B cells from cord blood	blood
23	chr8:96084600-96085000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr8:96084600-96085000	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
25	chr8:96084600-96085800	Weak transcription	Liver	Liver
26	chr8:96084600-96086000	Active TSS	Rectal Mucosa Donor 29	rectum
27	chr8:96084800-96085000	Enhancers	Primary neutrophils fromperipheralblood	blood
28	chr8:96084800-96085000	Enhancers	Primary T killer memory cells from peripheral blood	blood
29	chr8:96084800-96085000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr8:96084800-96085000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr8:96084800-96085000	Enhancers	Duodenum Mucosa	Duodenum
32	chr8:96084800-96085000	Enhancers	Stomach Mucosa	stomach
33	chr8:96084800-96085000	Enhancers	Thymus	Thymus
34	chr8:96084800-96085200	Enhancers	Primary monocytes fromperipheralblood	blood
35	chr8:96084800-96085200	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
36	chr8:96084800-96085200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr8:96084800-96085200	Bivalent Enhancer	Fetal Thymus	thymus
38	chr8:96084800-96085200	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
39	chr8:96084800-96085400	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
40	chr8:96084800-96085600	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
41	chr8:96084800-96085800	Enhancers	Spleen	Spleen
42	chr8:96084800-96086000	Flanking Active TSS	Primary B cells from peripheral blood	blood
43	chr8:96084800-96086000	Active TSS	Rectal Mucosa Donor 31	rectum
44	chr8:96084800-96086200	Flanking Active TSS	GM12878-XiMat	blood
45	chr8:96084800-96088400	Enhancers	Primary hematopoietic stem cells short term culture	blood

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