Variant report

Variant	rs986512
Chromosome Location	chr2:58275666-58275667
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:58274389..58277128-chr2:58466604..58469335,2	K562	blood:
2	chr2:58272245..58275889-chr2:58464232..58469335,5	K562	blood:

Variant related genes	Relation type
ENSG00000115392	Chromatin interaction
ENSG00000273063	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10172212	0.85[CEU][hapmap]
rs10188070	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10205421	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12477242	0.89[CEU][hapmap]
rs12620940	0.88[CEU][hapmap];0.83[EUR][1000 genomes]
rs12713370	0.80[JPT][hapmap]
rs2043890	0.88[CEU][hapmap];0.81[EUR][1000 genomes]
rs2312147	0.82[CEU][hapmap]
rs848286	0.92[CEU][hapmap];0.84[JPT][hapmap]
rs848287	0.92[CEU][hapmap]
rs848288	0.88[CEU][hapmap]
rs848289	0.89[CEU][hapmap]
rs961522	0.95[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs968653	0.89[AMR][1000 genomes];0.97[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	nsv834159	chr2:58101262-58283655	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
2	nsv525988	chr2:58161520-58427786	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	nsv999591	chr2:58214871-58316147	Weak transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
4	nsv582097	chr2:58266099-58346966	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
5	nsv874201	chr2:58269871-58350504	Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
6	nsv874202	chr2:58269871-58375688	Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:58272600-58275800	Active TSS	K562	blood
2	chr2:58272600-58277400	Active TSS	GM12878-XiMat	blood
3	chr2:58273600-58275800	Active TSS	HMEC	breast
4	chr2:58274600-58275800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
5	chr2:58274600-58275800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
6	chr2:58274600-58276400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
7	chr2:58274600-58283600	Weak transcription	Gastric	stomach
8	chr2:58274600-58298600	Weak transcription	Spleen	Spleen
9	chr2:58274600-58302400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr2:58274800-58276200	Flanking Active TSS	HUVEC	blood vessel
11	chr2:58274800-58276400	Enhancers	Primary T helper cells fromperipheralblood	blood
12	chr2:58274800-58282200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr2:58274800-58296400	Weak transcription	Ovary	ovary
14	chr2:58274800-58296600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr2:58274800-58302200	Weak transcription	Aorta	Aorta
16	chr2:58274800-58317400	Weak transcription	Fetal Muscle Trunk	muscle
17	chr2:58275000-58275800	Enhancers	Brain Hippocampus Middle	brain
18	chr2:58275000-58276000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr2:58275000-58276000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr2:58275000-58276800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
21	chr2:58275000-58278600	Weak transcription	Brain Substantia Nigra	brain
22	chr2:58275000-58280200	Weak transcription	Fetal Lung	lung
23	chr2:58275000-58282000	Weak transcription	Primary T cells from cord blood	blood
24	chr2:58275000-58282200	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr2:58275000-58282200	Weak transcription	Fetal Muscle Leg	muscle
26	chr2:58275000-58282200	Weak transcription	Left Ventricle	heart
27	chr2:58275000-58283800	Weak transcription	Primary T cells fromperipheralblood	blood
28	chr2:58275000-58285000	Weak transcription	Fetal Intestine Large	intestine
29	chr2:58275000-58285000	Weak transcription	Placenta	Placenta
30	chr2:58275000-58285400	Weak transcription	Fetal Thymus	thymus
31	chr2:58275000-58287800	Weak transcription	Fetal Kidney	kidney
32	chr2:58275000-58290800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr2:58275000-58290800	Weak transcription	Thymus	Thymus
34	chr2:58275000-58291000	Weak transcription	HSMM	muscle
35	chr2:58275000-58297600	Weak transcription	Duodenum Smooth Muscle	Duodenum
36	chr2:58275000-58302600	Weak transcription	Esophagus	oesophagus
37	chr2:58275000-58302800	Weak transcription	Fetal Stomach	stomach
38	chr2:58275000-58305600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr2:58275000-58317400	Weak transcription	Colon Smooth Muscle	Colon
40	chr2:58275000-58321600	Weak transcription	Rectal Smooth Muscle	rectum
41	chr2:58275000-58326600	Weak transcription	Pancreas	Pancrea
42	chr2:58275200-58275800	Active TSS	iPS-20b Cell Line	embryonic stem cell
43	chr2:58275200-58275800	Flanking Active TSS	NHEK	skin
44	chr2:58275200-58283600	Weak transcription	Primary hematopoietic stem cells	blood
45	chr2:58275400-58275800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr2:58275400-58275800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr2:58275400-58276000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr2:58275400-58276000	Weak transcription	Monocytes-CD14+_RO01746	blood
49	chr2:58275400-58276000	Weak transcription	Osteobl	bone
50	chr2:58275400-58276200	Transcr. at gene 5' and 3'	A549	lung

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