Variant report

Variant	rs60144755
Chromosome Location	chr8:96150612-96150613
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:96095758..96103345-chr8:96144049..96152228,17	MCF-7	breast:
2	chr8:96148895..96150652-chr8:96152212..96154149,3	K562	blood:
3	chr8:96082263..96084647-chr8:96148817..96151156,2	MCF-7	breast:
4	chr8:96066564..96073895-chr8:96144947..96151399,9	MCF-7	breast:
5	chr8:96147985..96151996-chr8:96154918..96159037,6	K562	blood:
6	chr8:96108471..96116302-chr8:96144708..96150629,15	MCF-7	breast:
7	chr8:96149528..96152300-chr8:96192170..96194138,2	MCF-7	breast:
8	chr8:96150317..96152962-chr8:96247980..96250492,2	K562	blood:
9	chr8:96148737..96150915-chr8:96279659..96281695,2	K562	blood:
10	chr8:96148386..96151549-chr8:96224432..96227854,3	MCF-7	breast:
11	chr8:95910082..95911889-chr8:96150413..96152348,2	K562	blood:
12	chr8:96148553..96152425-chr8:96162807..96166605,4	MCF-7	breast:
13	chr8:96149206..96151565-chr8:96265153..96267092,2	K562	blood:

(count:1 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C8orf37-2	chr8:96148213-96150639	ucscGeneNc_uc003yhm_1

No data

Variant related genes	Relation type
ENSG00000254248	Chromatin interaction
ENSG00000156172	Chromatin interaction
ENSG00000253773	Chromatin interaction
ENSG00000156170	Chromatin interaction
ENSG00000200525	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10088488	0.89[AFR][1000 genomes];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10092259	0.89[AFR][1000 genomes];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10099012	0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10101612	0.89[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10109640	0.89[AFR][1000 genomes];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10956939	0.89[AFR][1000 genomes];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11985227	0.89[AFR][1000 genomes];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11987616	0.89[AFR][1000 genomes];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11989019	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11994118	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12334474	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12335131	0.89[AFR][1000 genomes];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1561716	0.96[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28417924	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs28431240	0.89[AFR][1000 genomes];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs28470215	0.84[EUR][1000 genomes]
rs28512193	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs28704607	0.89[AFR][1000 genomes];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs58419720	0.82[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs58536083	0.92[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7827540	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7842028	0.87[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7842334	0.87[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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	nsv891207	chr8:96106037-96160914	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:96145800-96150800	Active TSS	GM12878-XiMat	blood
2	chr8:96147200-96172000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr8:96147400-96150800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
4	chr8:96147800-96153800	Weak transcription	Esophagus	oesophagus
5	chr8:96147800-96154800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
6	chr8:96147800-96172200	Weak transcription	HSMM	muscle
7	chr8:96148400-96150800	Enhancers	Primary T cells from cord blood	blood
8	chr8:96148400-96162000	Weak transcription	Lung	lung
9	chr8:96148400-96163600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr8:96148400-96171600	Weak transcription	Fetal Stomach	stomach
11	chr8:96148600-96161600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr8:96149200-96159600	Enhancers	Primary T helper cells PMA-I stimulated	--
13	chr8:96149600-96151200	Flanking Active TSS	Primary B cells from cord blood	blood
14	chr8:96150000-96152400	Weak transcription	Brain Cingulate Gyrus	brain
15	chr8:96150000-96154200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr8:96150200-96151800	Enhancers	Primary hematopoietic stem cells	blood
17	chr8:96150200-96152000	Weak transcription	Right Ventricle	heart
18	chr8:96150200-96152200	Weak transcription	Brain Hippocampus Middle	brain
19	chr8:96150200-96153800	Weak transcription	Primary T cells fromperipheralblood	blood
20	chr8:96150200-96154600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr8:96150200-96155200	Enhancers	Primary neutrophils fromperipheralblood	blood
22	chr8:96150200-96166600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr8:96150200-96166600	Weak transcription	Fetal Muscle Leg	muscle
24	chr8:96150200-96166600	Weak transcription	Placenta	Placenta
25	chr8:96150400-96150800	Enhancers	HepG2	liver
26	chr8:96150400-96151000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr8:96150400-96151000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr8:96150400-96151200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
29	chr8:96150400-96151400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
30	chr8:96150400-96151400	Weak transcription	Primary T helper cells fromperipheralblood	blood
31	chr8:96150400-96151400	Weak transcription	Left Ventricle	heart
32	chr8:96150400-96151400	Weak transcription	Pancreas	Pancrea
33	chr8:96150400-96151400	Weak transcription	Right Atrium	heart
34	chr8:96150400-96151600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr8:96150400-96151600	Enhancers	Primary hematopoietic stem cells short term culture	blood
36	chr8:96150400-96151600	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr8:96150400-96151600	Weak transcription	K562	blood
38	chr8:96150400-96152000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
39	chr8:96150400-96152000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr8:96150400-96152000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr8:96150400-96152000	Weak transcription	Pancreatic Islets	Pancreatic Islet
42	chr8:96150400-96152000	Weak transcription	Stomach Mucosa	stomach
43	chr8:96150400-96152200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr8:96150400-96152200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr8:96150400-96152200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
46	chr8:96150400-96152200	Weak transcription	Aorta	Aorta
47	chr8:96150400-96152200	Weak transcription	Brain Anterior Caudate	brain
48	chr8:96150400-96152200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
49	chr8:96150400-96152200	Weak transcription	Fetal Thymus	thymus
50	chr8:96150400-96152200	Weak transcription	Gastric	stomach

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