Variant report

Variant	rs2291947
Chromosome Location	chr16:71890489-71890490
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:71888248..71890946-chr16:71905303..71908907,3	K562	blood:
2	chr16:71890250..71892285-chr16:71892379..71894151,2	MCF-7	breast:
3	chr16:71890168..71892729-chr16:71898012..71900184,2	K562	blood:
4	chr16:71889920..71891699-chr16:71927635..71929243,2	MCF-7	breast:
5	chr16:71886073..71892139-chr16:71892415..71896075,7	K562	blood:

Variant related genes	Relation type
ENSG00000102984	Chromatin interaction
ENSG00000182149	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs1035543	0.91[CEU][hapmap];0.90[JPT][hapmap];0.84[YRI][hapmap];0.86[EUR][1000 genomes]
rs12597418	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12598902	0.84[YRI][hapmap];0.81[AFR][1000 genomes]
rs12600153	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12600163	1.00[CEU][hapmap];0.80[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12925901	0.90[JPT][hapmap]
rs13332113	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13332180	1.00[CEU][hapmap];0.90[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13337118	0.82[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs17286411	0.90[JPT][hapmap]
rs1834033	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2303220	0.90[JPT][hapmap]
rs34111614	0.93[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4538017	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4788448	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4788567	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4788572	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4788574	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4788578	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs55702379	0.91[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];0.88[ASN][1000 genomes]
rs7350856	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs952159	0.96[CEU][hapmap];0.85[CHB][hapmap];0.95[JPT][hapmap];0.91[EUR][1000 genomes]
rs952160	0.96[CEU][hapmap];0.85[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs9889100	0.84[EUR][1000 genomes]
rs9925441	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9925684	0.93[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9929683	0.83[YRI][hapmap]
rs9936965	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9937626	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[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:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:71881000-71902200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr16:71881200-71916600	Weak transcription	Small Intestine	intestine
3	chr16:71881800-71890800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr16:71881800-71890800	Strong transcription	Fetal Muscle Leg	muscle
5	chr16:71881800-71895800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr16:71881800-71897000	Strong transcription	Monocytes-CD14+_RO01746	blood
7	chr16:71881800-71899000	Strong transcription	Primary monocytes fromperipheralblood	blood
8	chr16:71881800-71902000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr16:71881800-71904600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr16:71881800-71914400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr16:71881800-71914600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr16:71882000-71890600	Strong transcription	H1 Cell Line	embryonic stem cell
13	chr16:71882000-71903800	Strong transcription	Brain Germinal Matrix	brain
14	chr16:71882000-71915600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr16:71882400-71890600	Strong transcription	Brain Hippocampus Middle	brain
16	chr16:71882400-71902400	Strong transcription	Fetal Stomach	stomach
17	chr16:71882400-71914600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr16:71883600-71897000	Weak transcription	Hela-S3	cervix
19	chr16:71884600-71892000	Genic enhancers	Primary T cells fromperipheralblood	blood
20	chr16:71884600-71893000	Weak transcription	Fetal Kidney	kidney
21	chr16:71884600-71902000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr16:71885000-71893800	Weak transcription	NH-A	brain
23	chr16:71885200-71912800	Weak transcription	NHDF-Ad	bronchial
24	chr16:71885400-71892800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr16:71885400-71893600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr16:71885600-71892000	Genic enhancers	Primary T helper cells fromperipheralblood	blood
27	chr16:71885600-71898000	Weak transcription	Pancreatic Islets	Pancreatic Islet
28	chr16:71885600-71916600	Weak transcription	Stomach Mucosa	stomach
29	chr16:71885800-71892800	Weak transcription	HUES64 Cell Line	embryonic stem cell
30	chr16:71886000-71892200	Weak transcription	Ovary	ovary
31	chr16:71886000-71893000	Weak transcription	Placenta Amnion	Placenta Amnion
32	chr16:71886000-71893400	Weak transcription	Colonic Mucosa	Colon
33	chr16:71886000-71893600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr16:71886000-71898400	Weak transcription	HMEC	breast
35	chr16:71886400-71891600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr16:71886400-71893600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr16:71886400-71904200	Strong transcription	Fetal Muscle Trunk	muscle
38	chr16:71886400-71904600	Strong transcription	Fetal Brain Female	brain
39	chr16:71886600-71890800	Genic enhancers	Fetal Thymus	thymus
40	chr16:71886600-71892800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr16:71886600-71894400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
42	chr16:71887000-71890600	Strong transcription	Adipose Nuclei	Adipose
43	chr16:71887000-71891000	Enhancers	Primary T helper naive cells from peripheral blood	blood
44	chr16:71887000-71893000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr16:71887200-71892000	Weak transcription	HUES6 Cell Line	embryonic stem cell
46	chr16:71887200-71892800	Weak transcription	Duodenum Smooth Muscle	Duodenum
47	chr16:71887200-71893200	Weak transcription	Esophagus	oesophagus
48	chr16:71887400-71890800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
49	chr16:71887400-71891400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
50	chr16:71887400-71893400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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