Variant report

Variant	rs16859870
Chromosome Location	chr3:112350673-112350674
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:112344415..112347197-chr3:112350553..112352868,2	K562	blood:
2	chr3:112350080..112353120-chr3:112708595..112712214,3	K562	blood:
3	chr3:112345807..112347759-chr3:112347769..112350964,3	MCF-7	breast:
4	chr3:112346979..112353983-chr3:112357134..112359925,9	K562	blood:

Variant related genes	Relation type
ENSG00000091986	Chromatin interaction
ENSG00000163607	Chromatin interaction
ENSG00000272844	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10934178	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10934179	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11712917	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1388443	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16859871	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4682418	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7349537	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7349538	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9288955	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9833212	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9851689	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9861342	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9870432	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9881785	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3329419	chr3:112236688-112620544	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:112331200-112351600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr3:112331400-112354800	Weak transcription	Psoas Muscle	Psoas
3	chr3:112336200-112351600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr3:112336600-112351400	Weak transcription	Fetal Lung	lung
5	chr3:112336600-112355800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr3:112341400-112351400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr3:112342600-112359600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr3:112343000-112351600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr3:112343400-112358000	Weak transcription	Pancreas	Pancrea
10	chr3:112345000-112353800	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr3:112345200-112359400	Weak transcription	Esophagus	oesophagus
12	chr3:112346200-112352400	Weak transcription	Brain Anterior Caudate	brain
13	chr3:112346200-112352400	Weak transcription	Fetal Brain Female	brain
14	chr3:112346400-112354000	Weak transcription	Fetal Heart	heart
15	chr3:112346600-112353800	Weak transcription	Aorta	Aorta
16	chr3:112347000-112351400	Genic enhancers	Osteobl	bone
17	chr3:112347200-112351200	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr3:112347400-112351600	Weak transcription	Ovary	ovary
19	chr3:112347800-112353200	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr3:112348000-112351400	Enhancers	Colon Smooth Muscle	Colon
21	chr3:112348000-112353200	Enhancers	Rectal Smooth Muscle	rectum
22	chr3:112348200-112351400	Enhancers	HUES64 Cell Line	embryonic stem cell
23	chr3:112348200-112351600	Genic enhancers	HSMM	muscle
24	chr3:112348200-112351800	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr3:112348200-112351800	Enhancers	iPS-20b Cell Line	embryonic stem cell
26	chr3:112348200-112358400	Transcr. at gene 5' and 3'	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr3:112348600-112351000	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr3:112348600-112351600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr3:112348600-112357200	Transcr. at gene 5' and 3'	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr3:112348800-112351400	Genic enhancers	Muscle Satellite Cultured Cells	--
31	chr3:112348800-112351600	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr3:112348800-112353800	Weak transcription	GM12878-XiMat	blood
33	chr3:112348800-112358400	Weak transcription	Hela-S3	cervix
34	chr3:112349000-112351600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr3:112349000-112351800	Weak transcription	HMEC	breast
36	chr3:112349000-112351800	Weak transcription	NHEK	skin
37	chr3:112349000-112354400	Enhancers	A549	lung
38	chr3:112349200-112351200	Weak transcription	Fetal Kidney	kidney
39	chr3:112349200-112351400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr3:112349200-112351400	Weak transcription	Fetal Stomach	stomach
41	chr3:112349200-112352200	Weak transcription	Placenta Amnion	Placenta Amnion
42	chr3:112349200-112354400	Weak transcription	Fetal Muscle Leg	muscle
43	chr3:112349400-112350800	Weak transcription	HSMMtube	muscle
44	chr3:112349400-112351400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr3:112349400-112351400	Weak transcription	HUVEC	blood vessel
46	chr3:112349400-112351600	Enhancers	HUES48 Cell Line	embryonic stem cell
47	chr3:112349600-112351200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr3:112349600-112351400	Enhancers	iPS-15b Cell Line	embryonic stem cell
49	chr3:112350000-112351000	Strong transcription	NH-A	brain
50	chr3:112350000-112351200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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