Variant report

Variant	rs6946292
Chromosome Location	chr7:127375693-127375694
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:127365430..127367078-chr7:127372960..127375815,2	K562	blood:
2	chr7:127342487..127344378-chr7:127375148..127377215,2	K562	blood:

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

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

rs_ID	r²[population]
rs10239440	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs10249616	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs11765620	0.81[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs1440972	0.80[AFR][1000 genomes];0.86[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs3808089	0.81[AMR][1000 genomes]
rs4473953	0.81[AMR][1000 genomes]
rs6467152	0.84[AMR][1000 genomes]
rs6947779	0.83[AMR][1000 genomes]
rs6953134	0.92[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs6965698	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs6969353	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs6979634	0.81[AMR][1000 genomes]
rs73450923	0.83[AMR][1000 genomes]
rs7778413	0.92[AMR][1000 genomes];0.81[EUR][1000 genomes];0.80[ASN][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	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	nsv1031658	chr7:127266882-127376775	Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
5	nsv831123	chr7:127289511-127510396	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
6	nsv1030387	chr7:127348973-127455890	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:127326600-127379800	Strong transcription	Primary monocytes fromperipheralblood	blood
2	chr7:127334400-127376600	Weak transcription	Fetal Brain Male	brain
3	chr7:127347800-127383000	Strong transcription	NHEK	skin
4	chr7:127351400-127383800	Strong transcription	Monocytes-CD14+_RO01746	blood
5	chr7:127351600-127382200	Strong transcription	K562	blood
6	chr7:127354200-127376600	Weak transcription	Psoas Muscle	Psoas
7	chr7:127355200-127380000	Strong transcription	GM12878-XiMat	blood
8	chr7:127357200-127382600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
9	chr7:127357400-127380800	Strong transcription	Fetal Intestine Large	intestine
10	chr7:127357600-127387000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr7:127357800-127378200	Strong transcription	Primary T helper cells PMA-I stimulated	--
12	chr7:127360000-127377800	Strong transcription	Duodenum Mucosa	Duodenum
13	chr7:127360000-127379200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr7:127360600-127382000	Strong transcription	Hela-S3	cervix
15	chr7:127360800-127377600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr7:127361200-127391400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
17	chr7:127362600-127400000	Weak transcription	Small Intestine	intestine
18	chr7:127363400-127391000	Weak transcription	Colon Smooth Muscle	Colon
19	chr7:127363400-127391400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
20	chr7:127364800-127376800	Strong transcription	Lung	lung
21	chr7:127365000-127376000	Weak transcription	A549	lung
22	chr7:127366000-127391000	Weak transcription	Rectal Smooth Muscle	rectum
23	chr7:127366200-127391200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr7:127366600-127380000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr7:127367400-127377400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr7:127368800-127391600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr7:127369000-127384800	Weak transcription	Stomach Mucosa	stomach
28	chr7:127369200-127377400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr7:127369200-127379600	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr7:127370000-127391200	Weak transcription	NHDF-Ad	bronchial
31	chr7:127370200-127378200	Strong transcription	Primary B cells from peripheral blood	blood
32	chr7:127370400-127378000	Strong transcription	HMEC	breast
33	chr7:127371000-127382200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr7:127371200-127391600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
35	chr7:127371400-127376200	Weak transcription	Brain Germinal Matrix	brain
36	chr7:127371400-127377600	Strong transcription	HUES6 Cell Line	embryonic stem cell
37	chr7:127371400-127379800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr7:127371400-127380200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr7:127371600-127378400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
40	chr7:127371800-127378600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr7:127371800-127378800	Weak transcription	Right Atrium	heart
42	chr7:127371800-127382200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr7:127371800-127391200	Weak transcription	Esophagus	oesophagus
44	chr7:127372000-127391000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr7:127372200-127375800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
46	chr7:127372200-127376200	Weak transcription	Colonic Mucosa	Colon
47	chr7:127372200-127378800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr7:127372200-127384800	Weak transcription	Placenta Amnion	Placenta Amnion
49	chr7:127372200-127386000	Weak transcription	Cortex derived primary cultured neurospheres	brain
50	chr7:127372200-127391200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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