Variant report

Variant	rs16831500
Chromosome Location	chr3:120280374-120280375
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:120279971..120280796-chr3:120513577..120514769,5	K562	blood:
2	chr3:120279797..120280809-chr3:120513558..120514502,6	MCF-7	breast:
3	chr3:120279832..120280786-chr3:120513592..120514490,6	MCF-7	breast:
4	chr3:120279821..120280465-chr3:121247825..121248767,2	MCF-7	breast:
5	chr3:120137539..120138449-chr3:120279703..120280766,4	MCF-7	breast:
6	chr3:120277206..120281341-chr3:120281680..120284583,3	K562	blood:
7	chr14:104808000..104808682-chr3:120279791..120280680,2	MCF-7	breast:

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs1370740	1.00[CEU][hapmap]
rs16831308	1.00[ASN][1000 genomes]
rs16831321	1.00[ASN][1000 genomes]
rs16831328	1.00[ASN][1000 genomes]
rs16831400	1.00[ASN][1000 genomes]
rs16831487	1.00[ASN][1000 genomes]
rs16831491	1.00[ASN][1000 genomes]
rs16831503	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs17140276	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17140280	1.00[ASN][1000 genomes]
rs2319827	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.85[TSI][hapmap]
rs4676817	1.00[CHB][hapmap]
rs4676818	1.00[CHB][hapmap]
rs6770836	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72960832	1.00[ASN][1000 genomes]
rs7633287	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs985190	1.00[ASN][1000 genomes]
rs9881574	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1007557	chr3:119892894-120764353	Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv536706	chr3:119892894-120764353	Flanking Bivalent TSS/Enh Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv1006428	chr3:120015620-120421982	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
4	esv3369381	chr3:120066425-120425510	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
5	esv3350409	chr3:120066445-120425480	Genic enhancers Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
6	nsv508238	chr3:120248574-120329424	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
7	esv3373301	chr3:120273762-120421260	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
8	esv3404272	chr3:120274212-120294960	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:120278400-120285400	Weak transcription	Brain Substantia Nigra	brain
2	chr3:120278600-120280600	Enhancers	Placenta	Placenta
3	chr3:120278600-120285400	Weak transcription	Brain Cingulate Gyrus	brain
4	chr3:120278800-120280400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr3:120278800-120280600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr3:120278800-120280600	Enhancers	HUVEC	blood vessel
7	chr3:120278800-120280800	Enhancers	NHDF-Ad	bronchial
8	chr3:120278800-120285400	Weak transcription	Brain Angular Gyrus	brain
9	chr3:120278800-120285600	Weak transcription	Fetal Lung	lung
10	chr3:120278800-120286200	Weak transcription	HSMMtube	muscle
11	chr3:120278800-120286800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr3:120279000-120280400	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr3:120279000-120280400	Weak transcription	K562	blood
14	chr3:120279000-120280800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr3:120279000-120280800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr3:120279000-120280800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr3:120279000-120280800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
18	chr3:120279000-120280800	Enhancers	NHLF	lung
19	chr3:120279000-120285000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr3:120279000-120285400	Weak transcription	Stomach Smooth Muscle	stomach
21	chr3:120279200-120280600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr3:120279400-120280800	Enhancers	Brain Inferior Temporal Lobe	brain
23	chr3:120279600-120280800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr3:120279600-120282200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr3:120279800-120280600	Enhancers	Rectal Smooth Muscle	rectum
26	chr3:120279800-120280600	Enhancers	A549	lung
27	chr3:120279800-120280800	Enhancers	Colon Smooth Muscle	Colon
28	chr3:120279800-120280800	Enhancers	Hela-S3	cervix
29	chr3:120279800-120285600	Weak transcription	Ovary	ovary
30	chr3:120279800-120286200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr3:120279800-120286200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr3:120279800-120287000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr3:120279800-120288000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr3:120280000-120280600	Enhancers	HUES64 Cell Line	embryonic stem cell
35	chr3:120280000-120280600	Enhancers	Primary T helper cells PMA-I stimulated	--
36	chr3:120280000-120280600	Enhancers	Pancreatic Islets	Pancreatic Islet
37	chr3:120280000-120280600	Enhancers	NH-A	brain
38	chr3:120280000-120280800	Enhancers	HUES48 Cell Line	embryonic stem cell
39	chr3:120280000-120280800	Enhancers	iPS-18 Cell Line	embryonic stem cell
40	chr3:120280000-120280800	Enhancers	Brain Anterior Caudate	brain
41	chr3:120280000-120280800	Enhancers	Brain Hippocampus Middle	brain
42	chr3:120280000-120280800	Enhancers	Osteobl	bone
43	chr3:120280000-120281000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr3:120280000-120281200	Weak transcription	Fetal Heart	heart
45	chr3:120280000-120282400	Weak transcription	H9 Cell Line	embryonic stem cell
46	chr3:120280000-120282600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr3:120280000-120285400	Weak transcription	HUES6 Cell Line	embryonic stem cell
48	chr3:120280000-120285800	Weak transcription	Fetal Stomach	stomach
49	chr3:120280000-120286200	Weak transcription	Liver	Liver
50	chr3:120280000-120286800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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