Variant report

Variant	rs7694170
Chromosome Location	chr4:16191868-16191869
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10013167	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11934569	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2271749	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28417679	1.00[EUR][1000 genomes]
rs6813085	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6814370	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6821914	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6834015	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71179689	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[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	nsv998299	chr4:16031459-16226466	Bivalent/Poised TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
2	nsv1004821	chr4:16055996-16830629	Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv537046	chr4:16055996-16830629	Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Weak transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
4	nsv537047	chr4:16182060-16375787	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:16161800-16193200	Strong transcription	Monocytes-CD14+_RO01746	blood
2	chr4:16163200-16195800	Weak transcription	HMEC	breast
3	chr4:16164400-16195000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr4:16168000-16208000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr4:16168000-16213800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr4:16168200-16198000	Weak transcription	A549	lung
7	chr4:16168400-16194600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr4:16168400-16197800	Weak transcription	NHLF	lung
9	chr4:16168400-16198000	Weak transcription	NH-A	brain
10	chr4:16168600-16198000	Weak transcription	NHEK	skin
11	chr4:16170800-16208000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr4:16171400-16207200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr4:16171600-16194400	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr4:16171600-16198000	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr4:16172000-16198000	Weak transcription	HSMMtube	muscle
16	chr4:16174400-16196800	Weak transcription	Stomach Mucosa	stomach
17	chr4:16176200-16198000	Weak transcription	HSMM	muscle
18	chr4:16177000-16194000	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr4:16179200-16196000	Weak transcription	Fetal Heart	heart
20	chr4:16180800-16192600	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr4:16181000-16197800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr4:16181000-16197800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr4:16181200-16223800	Weak transcription	Fetal Brain Male	brain
24	chr4:16182600-16194800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr4:16183600-16193600	Strong transcription	Liver	Liver
26	chr4:16184200-16197600	Strong transcription	Primary B cells from cord blood	blood
27	chr4:16184200-16198000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr4:16184200-16200600	Strong transcription	Fetal Thymus	thymus
29	chr4:16184400-16194200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
30	chr4:16185200-16193400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr4:16185400-16196000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr4:16185400-16197400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr4:16185600-16193200	Strong transcription	Primary monocytes fromperipheralblood	blood
34	chr4:16185600-16197600	Strong transcription	Primary T helper cells PMA-I stimulated	--
35	chr4:16186000-16193200	Strong transcription	Primary T cells fromperipheralblood	blood
36	chr4:16186000-16193200	Strong transcription	Fetal Intestine Large	intestine
37	chr4:16186200-16193400	Strong transcription	Placenta	Placenta
38	chr4:16186200-16197400	Strong transcription	Primary B cells from peripheral blood	blood
39	chr4:16186400-16197600	Strong transcription	Primary T helper cells fromperipheralblood	blood
40	chr4:16186600-16193000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr4:16186800-16198000	Weak transcription	Muscle Satellite Cultured Cells	--
42	chr4:16187200-16193000	Strong transcription	Rectal Mucosa Donor 29	rectum
43	chr4:16187200-16193800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
44	chr4:16187200-16194000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
45	chr4:16187200-16196400	Strong transcription	Dnd41	blood
46	chr4:16187400-16193600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr4:16187400-16199600	Weak transcription	Hela-S3	cervix
48	chr4:16188200-16197800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
49	chr4:16188800-16197800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
50	chr4:16189000-16197800	Weak transcription	HUES48 Cell Line	embryonic stem cell

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