Variant report

Variant	rs11995127
Chromosome Location	chr8:42772278-42772279
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:42760280..42764060-chr8:42770544..42773563,4	K562	blood:
2	chr8:42750689..42754402-chr8:42769878..42774484,6	K562	blood:
3	chr8:42761435..42764060-chr8:42771198..42773563,2	K562	blood:
4	chr8:42769906..42772301-chr8:42774186..42775836,2	K562	blood:
5	chr8:42752902..42755460-chr8:42769700..42772632,2	K562	blood:

Variant related genes	Relation type
ENSG00000168172	Chromatin interaction
ENSG00000120925	Chromatin interaction
ENSG00000266044	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs11987761	1.00[AFR][1000 genomes]
rs11988193	0.93[AFR][1000 genomes]
rs11989986	1.00[ASW][hapmap];0.92[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs11990955	1.00[LWK][hapmap];0.91[MKK][hapmap];0.93[AFR][1000 genomes]
rs11993252	0.86[AFR][1000 genomes]
rs11993799	1.00[LWK][hapmap];0.91[MKK][hapmap];1.00[AFR][1000 genomes]
rs35349171	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs58577394	0.93[AFR][1000 genomes]
rs59523223	0.93[AFR][1000 genomes]
rs60389831	0.93[AFR][1000 genomes]
rs73627236	0.86[AFR][1000 genomes]
rs73634630	0.86[AFR][1000 genomes]
rs73634647	0.93[AFR][1000 genomes]
rs73634656	1.00[AFR][1000 genomes]
rs73634693	0.93[AFR][1000 genomes]
rs73634694	0.93[AFR][1000 genomes]
rs73634697	1.00[AFR][1000 genomes]
rs73634702	1.00[AFR][1000 genomes]
rs73635307	1.00[AFR][1000 genomes]
rs73635310	0.93[AFR][1000 genomes]
rs73635330	1.00[AFR][1000 genomes]
rs73635337	1.00[AFR][1000 genomes]
rs73635339	0.93[AFR][1000 genomes]
rs73635342	0.93[AFR][1000 genomes]
rs73635343	1.00[AFR][1000 genomes]
rs73635347	1.00[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	nsv890846	chr8:42625663-43240123	Weak transcription Enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	86 gene(s)	inside rSNPs	diseases
2	nsv1024688	chr8:42709414-43333639	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
3	nsv539563	chr8:42709414-43333639	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
4	nsv1033927	chr8:42748842-43575771	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
5	nsv533812	chr8:42755447-43528350	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:42753600-42785800	Weak transcription	Esophagus	oesophagus
2	chr8:42754000-42814200	Weak transcription	Fetal Thymus	thymus
3	chr8:42754200-42775200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
4	chr8:42754400-42806400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr8:42754600-42781800	Weak transcription	Hela-S3	cervix
6	chr8:42754800-42812600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr8:42755000-42787600	Weak transcription	Fetal Brain Male	brain
8	chr8:42755800-42785800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
9	chr8:42756200-42775000	Weak transcription	Right Ventricle	heart
10	chr8:42756200-42775200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr8:42757600-42775000	Weak transcription	Fetal Heart	heart
12	chr8:42758200-42775400	Weak transcription	Brain Cingulate Gyrus	brain
13	chr8:42759800-42781400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr8:42760800-42775400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
15	chr8:42761200-42772600	Strong transcription	Monocytes-CD14+_RO01746	blood
16	chr8:42761600-42772800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr8:42762800-42775400	Weak transcription	HMEC	breast
18	chr8:42764800-42781800	Weak transcription	Placenta	Placenta
19	chr8:42764800-42787600	Weak transcription	Thymus	Thymus
20	chr8:42765400-42781800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr8:42766200-42775400	Weak transcription	NHEK	skin
22	chr8:42766400-42775400	Weak transcription	NH-A	brain
23	chr8:42766800-42775600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr8:42766800-42806800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
25	chr8:42767200-42781400	Weak transcription	Primary T cells fromperipheralblood	blood
26	chr8:42767400-42775400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr8:42767400-42780600	Weak transcription	Primary T helper cells fromperipheralblood	blood
28	chr8:42767400-42781000	Weak transcription	Fetal Muscle Trunk	muscle
29	chr8:42768000-42773000	Weak transcription	Liver	Liver
30	chr8:42768200-42780800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
31	chr8:42768200-42787600	Weak transcription	Placenta Amnion	Placenta Amnion
32	chr8:42768800-42773400	Enhancers	HepG2	liver
33	chr8:42768800-42773600	Strong transcription	Cortex derived primary cultured neurospheres	brain
34	chr8:42768800-42781400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr8:42769000-42773200	Enhancers	Fetal Intestine Large	intestine
36	chr8:42769200-42772800	Enhancers	Fetal Intestine Small	intestine
37	chr8:42769200-42775000	Weak transcription	Fetal Brain Female	brain
38	chr8:42769200-42782000	Weak transcription	Primary T helper cells PMA-I stimulated	--
39	chr8:42769200-42785600	Weak transcription	Fetal Kidney	kidney
40	chr8:42769400-42778200	Weak transcription	Fetal Lung	lung
41	chr8:42769400-42781400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
42	chr8:42769400-42785800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr8:42769400-42786000	Weak transcription	Duodenum Mucosa	Duodenum
44	chr8:42769800-42775000	Weak transcription	Rectal Smooth Muscle	rectum
45	chr8:42769800-42781000	Weak transcription	Primary T cells from cord blood	blood
46	chr8:42769800-42786000	Weak transcription	Primary neutrophils fromperipheralblood	blood
47	chr8:42769800-42787200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr8:42770200-42772400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr8:42770200-42772600	Enhancers	Pancreas	Pancrea
50	chr8:42770400-42772400	Weak transcription	Primary hematopoietic stem cells short term culture	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links