Variant report

Variant	rs6966442
Chromosome Location	chr7:21545690-21545691
allele	A/C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs1011167	1.00[CHB][hapmap];0.92[GIH][hapmap];0.85[LWK][hapmap];0.94[MEX][hapmap];0.85[TSI][hapmap];0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1011168	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1018954	0.85[JPT][hapmap];0.94[MEX][hapmap];0.80[MKK][hapmap];0.80[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs10249014	0.84[ASN][1000 genomes]
rs10249112	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10268512	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1771	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1989985	0.85[CEU][hapmap];0.82[EUR][1000 genomes]
rs2107449	0.88[GIH][hapmap];1.00[JPT][hapmap];0.80[TSI][hapmap];0.86[ASN][1000 genomes]
rs2282901	0.88[ASW][hapmap];0.94[MEX][hapmap];0.88[MKK][hapmap];0.90[TSI][hapmap];0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2390535	0.84[CEU][hapmap];0.84[TSI][hapmap]
rs2390536	0.84[CEU][hapmap];0.84[TSI][hapmap]
rs2390538	0.81[GIH][hapmap]
rs28446999	0.88[EUR][1000 genomes]
rs9648275	0.82[AMR][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	nsv1027302	chr7:21391598-21727016	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv538800	chr7:21391598-21727016	Enhancers Genic enhancers Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	nsv1028434	chr7:21468437-21636671	ZNF genes & repeats Strong transcription Bivalent/Poised TSS Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
4	nsv1023655	chr7:21486485-21727016	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
5	nsv538801	chr7:21486485-21727016	ZNF genes & repeats Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
6	nsv830921	chr7:21489100-21688016	Strong transcription ZNF genes & repeats Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:21487400-21557000	Weak transcription	Aorta	Aorta
2	chr7:21500000-21552800	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr7:21516200-21556400	Weak transcription	Brain Substantia Nigra	brain
4	chr7:21517000-21556000	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr7:21520800-21552800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr7:21521200-21552600	Weak transcription	Brain Angular Gyrus	brain
7	chr7:21533200-21547600	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr7:21533400-21550400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr7:21533600-21549800	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr7:21536600-21549400	Weak transcription	Left Ventricle	heart
11	chr7:21536600-21550000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr7:21536600-21550600	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr7:21536600-21557000	Weak transcription	Psoas Muscle	Psoas
14	chr7:21536800-21550800	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr7:21536800-21550800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr7:21536800-21552800	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr7:21537000-21547800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr7:21537400-21549000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr7:21538800-21555000	Weak transcription	Brain Cingulate Gyrus	brain
20	chr7:21539200-21552600	Weak transcription	Stomach Smooth Muscle	stomach
21	chr7:21539600-21554800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr7:21539600-21555800	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr7:21539800-21551600	Strong transcription	Primary B cells from cord blood	blood
24	chr7:21540600-21550800	Weak transcription	Fetal Lung	lung
25	chr7:21540600-21551600	Weak transcription	Primary neutrophils fromperipheralblood	blood
26	chr7:21540600-21554400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr7:21540800-21551400	Weak transcription	Brain Anterior Caudate	brain
28	chr7:21541000-21554800	Weak transcription	Lung	lung
29	chr7:21541600-21547000	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chr7:21541600-21547800	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
31	chr7:21542000-21551200	Weak transcription	Fetal Kidney	kidney
32	chr7:21542200-21546600	Weak transcription	Fetal Heart	heart
33	chr7:21542200-21547400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr7:21542200-21547600	Weak transcription	Fetal Muscle Leg	muscle
35	chr7:21542200-21548200	Weak transcription	Fetal Muscle Trunk	muscle
36	chr7:21542200-21552200	Weak transcription	Adipose Nuclei	Adipose
37	chr7:21542400-21546800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr7:21542800-21547400	Weak transcription	Fetal Stomach	stomach
39	chr7:21543400-21548000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr7:21544000-21547000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr7:21544000-21548200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr7:21544200-21550200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr7:21544400-21546200	ZNF genes & repeats	Primary T cells fromperipheralblood	blood
44	chr7:21544400-21546200	Strong transcription	Thymus	Thymus
45	chr7:21544600-21546800	ZNF genes & repeats	Primary B cells from peripheral blood	blood
46	chr7:21544600-21546800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
47	chr7:21544600-21547600	Weak transcription	Ovary	ovary
48	chr7:21544600-21549400	Weak transcription	Pancreas	Pancrea
49	chr7:21544800-21547400	Weak transcription	Fetal Thymus	thymus
50	chr7:21545000-21546000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood

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