Variant report

Variant	rs6968751
Chromosome Location	chr7:127660288-127660289
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10226394	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10246505	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10250463	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10265516	0.86[EUR][1000 genomes]
rs10280863	0.88[EUR][1000 genomes]
rs1035295	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11773160	0.83[EUR][1000 genomes]
rs3757758	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3757764	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3757768	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3808080	0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3808081	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3808083	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3808089	1.00[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes]
rs4473953	1.00[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes]
rs57103099	0.86[EUR][1000 genomes]
rs6965698	0.84[EUR][1000 genomes]
rs6969353	0.84[EUR][1000 genomes]
rs6976887	0.80[EUR][1000 genomes]
rs7783102	0.94[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes]
rs7786786	1.00[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes]
rs9640847	0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022385	chr7:127246656-127971194	Weak transcription Bivalent Enhancer Enhancers Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv539120	chr7:127246656-127971194	Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv1016143	chr7:127251359-127726762	Strong transcription Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	nsv1024743	chr7:127498695-127670004	Genic enhancers Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:127631800-127660800	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr7:127635600-127660600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr7:127635800-127660600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr7:127636000-127662400	Weak transcription	NHDF-Ad	bronchial
5	chr7:127641600-127670400	Weak transcription	Colonic Mucosa	Colon
6	chr7:127644000-127668800	Weak transcription	Dnd41	blood
7	chr7:127644000-127670200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
8	chr7:127644800-127667400	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr7:127644800-127670800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr7:127645000-127684000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr7:127645200-127661800	Strong transcription	Monocytes-CD14+_RO01746	blood
12	chr7:127645400-127670000	Weak transcription	Primary T helper cells fromperipheralblood	blood
13	chr7:127646000-127660400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr7:127651800-127660600	Weak transcription	Left Ventricle	heart
15	chr7:127651800-127661600	Strong transcription	Fetal Intestine Small	intestine
16	chr7:127651800-127664400	Weak transcription	Right Ventricle	heart
17	chr7:127651800-127665600	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr7:127651800-127667600	Weak transcription	Colon Smooth Muscle	Colon
19	chr7:127651800-127668800	Weak transcription	Ovary	ovary
20	chr7:127651800-127670600	Weak transcription	Rectal Smooth Muscle	rectum
21	chr7:127652000-127660600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr7:127653000-127661000	Weak transcription	A549	lung
23	chr7:127653200-127668800	Weak transcription	Thymus	Thymus
24	chr7:127653400-127661200	Weak transcription	NHLF	lung
25	chr7:127653400-127662400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr7:127653600-127660600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr7:127654600-127660600	Weak transcription	Primary T helper cells PMA-I stimulated	--
28	chr7:127654600-127669200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr7:127654800-127664200	Weak transcription	Primary hematopoietic stem cells	blood
30	chr7:127656600-127660400	Enhancers	Brain Anterior Caudate	brain
31	chr7:127656600-127662200	Strong transcription	Duodenum Mucosa	Duodenum
32	chr7:127657000-127661600	Enhancers	Brain Angular Gyrus	brain
33	chr7:127657000-127661600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
34	chr7:127657000-127662000	Strong transcription	Primary T cells from cord blood	blood
35	chr7:127657000-127664600	Strong transcription	GM12878-XiMat	blood
36	chr7:127657000-127670200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
37	chr7:127657200-127660400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr7:127657200-127660800	Enhancers	H1 Cell Line	embryonic stem cell
39	chr7:127657200-127661600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
40	chr7:127657200-127661600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr7:127657200-127661800	Strong transcription	Primary B cells from peripheral blood	blood
42	chr7:127657200-127663800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr7:127657400-127660400	Enhancers	iPS-18 Cell Line	embryonic stem cell
44	chr7:127657400-127661000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr7:127657400-127661000	Genic enhancers	Fetal Brain Female	brain
46	chr7:127657600-127661800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr7:127657600-127661800	Strong transcription	Primary monocytes fromperipheralblood	blood
48	chr7:127657800-127660800	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr7:127657800-127661600	Enhancers	Brain Cingulate Gyrus	brain
50	chr7:127657800-127663200	Enhancers	HUES64 Cell Line	embryonic stem cell

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