Variant report

Variant	rs9937626
Chromosome Location	chr16:71903750-71903751
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:71903459..71905308-chr16:71929420..71930996,2	MCF-7	breast:
2	chr16:71896567..71899503-chr16:71901717..71904863,3	K562	blood:
3	chr16:71902712..71905224-chr16:71915459..71917977,2	MCF-7	breast:
4	chr16:71841575..71843307-chr16:71901661..71904621,2	K562	blood:

Variant related genes	Relation type
ENSG00000182149	Chromatin interaction
ENSG00000102984	Chromatin interaction
ENSG00000261765	Chromatin interaction
ENSG00000166747	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs1035543	0.86[EUR][1000 genomes]
rs12597418	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12598902	0.82[AFR][1000 genomes]
rs12600153	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12600163	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13332113	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13332180	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13337118	0.81[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs1834033	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2291947	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34111614	0.92[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4538017	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4788448	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4788567	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4788572	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4788574	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4788578	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs55702379	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56309616	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs60075093	0.89[EUR][1000 genomes]
rs60740701	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7350856	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs952159	0.91[EUR][1000 genomes]
rs952160	0.91[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs9889100	0.84[EUR][1000 genomes]
rs9925441	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9925684	0.92[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9936965	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3347477	chr16:71555148-71985177	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	nsv948468	chr16:71727571-72651914	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 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	chr16:71881200-71916600	Weak transcription	Small Intestine	intestine
2	chr16:71881800-71904600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr16:71881800-71914400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr16:71881800-71914600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr16:71882000-71903800	Strong transcription	Brain Germinal Matrix	brain
6	chr16:71882000-71915600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr16:71882400-71914600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr16:71885200-71912800	Weak transcription	NHDF-Ad	bronchial
9	chr16:71885600-71916600	Weak transcription	Stomach Mucosa	stomach
10	chr16:71886400-71904200	Strong transcription	Fetal Muscle Trunk	muscle
11	chr16:71886400-71904600	Strong transcription	Fetal Brain Female	brain
12	chr16:71888000-71914800	Weak transcription	HUVEC	blood vessel
13	chr16:71888000-71916400	Weak transcription	NHEK	skin
14	chr16:71888200-71910600	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr16:71888600-71903800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr16:71889200-71904000	Strong transcription	Primary T cells from cord blood	blood
17	chr16:71890200-71913000	Weak transcription	Osteobl	bone
18	chr16:71891000-71914000	Strong transcription	Primary B cells from peripheral blood	blood
19	chr16:71891400-71905400	Strong transcription	Fetal Lung	lung
20	chr16:71891400-71906600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
21	chr16:71892600-71904400	Strong transcription	Primary T helper cells PMA-I stimulated	--
22	chr16:71893000-71905200	Strong transcription	Brain Anterior Caudate	brain
23	chr16:71893200-71904200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
24	chr16:71893200-71911000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
25	chr16:71893400-71904800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr16:71894400-71904000	Strong transcription	Primary T cells fromperipheralblood	blood
27	chr16:71894600-71904200	Strong transcription	Fetal Intestine Large	intestine
28	chr16:71894600-71916800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr16:71895000-71904400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr16:71895800-71916400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr16:71896000-71913400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
32	chr16:71896000-71913800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr16:71896800-71916600	Weak transcription	NHLF	lung
34	chr16:71897600-71904200	Strong transcription	Primary B cells from cord blood	blood
35	chr16:71897800-71915600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr16:71898000-71916800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr16:71898200-71916600	Weak transcription	Psoas Muscle	Psoas
38	chr16:71898400-71912400	Weak transcription	Placenta Amnion	Placenta Amnion
39	chr16:71898400-71916800	Weak transcription	Right Ventricle	heart
40	chr16:71898600-71912400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
41	chr16:71898800-71912200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr16:71898800-71914200	Weak transcription	Pancreatic Islets	Pancreatic Islet
43	chr16:71898800-71916400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr16:71898800-71916400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr16:71899000-71906600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
46	chr16:71899000-71909000	Weak transcription	H1 Cell Line	embryonic stem cell
47	chr16:71899000-71910400	Weak transcription	H9 Cell Line	embryonic stem cell
48	chr16:71899000-71912800	Weak transcription	Left Ventricle	heart
49	chr16:71899000-71913200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
50	chr16:71899000-71913200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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