Variant report

Variant	rs3806983
Chromosome Location	chr6:150040733-150040734
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr6:150040707-150040762	HepG2	liver:	n/a	n/a
2	POLR2A	chr6:150036887-150041282	K562	blood:	n/a	n/a

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:149866797..149869221-chr6:150037385..150040762,4	K562	blood:
2	chr6:150039646..150042123-chr6:150090131..150092375,2	K562	blood:
3	chr6:149969487..149971965-chr6:150038903..150040820,3	K562	blood:
4	chr6:149967309..149971944-chr6:150037502..150040952,6	MCF-7	breast:
5	chr6:150036817..150045008-chr6:150066563..150073628,17	MCF-7	breast:
6	chr6:150037658..150040820-chr6:150066171..150069234,4	MCF-7	breast:
7	chr6:150039916..150042698-chr6:150047893..150050444,2	MCF-7	breast:
8	chr6:149884840..149889202-chr6:150038504..150040931,4	K562	blood:
9	chr6:149967293..149971613-chr6:150037790..150041524,8	K562	blood:
10	chr6:150038744..150042586-chr6:150067819..150072874,7	K562	blood:

No data

Variant related genes	Relation type
LATS1	TF binding region
ENSG00000055211	Chromatin interaction
ENSG00000120265	Chromatin interaction
ENSG00000131013	Chromatin interaction
ENSG00000186625	Chromatin interaction
ENSG00000120253	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs11961451	0.83[EUR][1000 genomes]
rs11963610	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11966407	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11968366	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11968879	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17078923	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17088269	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56149740	1.00[ASN][1000 genomes]
rs57880524	0.83[EUR][1000 genomes]
rs58651413	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6899595	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6927395	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73606794	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7744111	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7745198	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7753340	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9478983	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9765961	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9766101	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv886762	chr6:149866452-150174507	Weak transcription Genic enhancers Bivalent/Poised TSS Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	esv1792620	chr6:149909491-150083621	Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers 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 target site	32 gene(s)	inside rSNPs	diseases
3	esv3475167	chr6:150003006-150086225	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
4	esv3475168	chr6:150003006-150086225	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
5	esv1803291	chr6:150018508-150164190	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 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	chr6:150039400-150040800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr6:150039600-150049600	Weak transcription	Spleen	Spleen
3	chr6:150039600-150049800	Weak transcription	Gastric	stomach
4	chr6:150039600-150050400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr6:150039800-150046200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr6:150039800-150049800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr6:150039800-150049800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr6:150039800-150066800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr6:150039800-150067000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr6:150040000-150043600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr6:150040000-150044000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr6:150040000-150044000	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr6:150040000-150044000	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr6:150040000-150044200	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr6:150040000-150044200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr6:150040000-150044200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr6:150040000-150044800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr6:150040000-150044800	Weak transcription	GM12878-XiMat	blood
19	chr6:150040000-150046200	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr6:150040000-150046600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr6:150040000-150046800	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr6:150040000-150047000	Weak transcription	Adipose Nuclei	Adipose
23	chr6:150040000-150047000	Weak transcription	HSMM	muscle
24	chr6:150040000-150047400	Weak transcription	Liver	Liver
25	chr6:150040000-150047600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr6:150040000-150047600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr6:150040000-150047600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr6:150040000-150047600	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr6:150040000-150047600	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr6:150040000-150047600	Weak transcription	NHDF-Ad	bronchial
31	chr6:150040000-150047800	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr6:150040000-150047800	Weak transcription	Ovary	ovary
33	chr6:150040000-150047800	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr6:150040000-150047800	Weak transcription	HSMMtube	muscle
35	chr6:150040000-150047800	Weak transcription	NHLF	lung
36	chr6:150040000-150049000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
37	chr6:150040000-150049000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
38	chr6:150040000-150049000	Weak transcription	Right Ventricle	heart
39	chr6:150040000-150049400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr6:150040000-150049400	Weak transcription	Placenta Amnion	Placenta Amnion
41	chr6:150040000-150049600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr6:150040000-150049600	Weak transcription	Brain Substantia Nigra	brain
43	chr6:150040000-150049800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr6:150040000-150049800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr6:150040000-150049800	Weak transcription	Aorta	Aorta
46	chr6:150040000-150049800	Weak transcription	Brain Angular Gyrus	brain
47	chr6:150040000-150049800	Weak transcription	Brain Cingulate Gyrus	brain
48	chr6:150040000-150049800	Weak transcription	Fetal Lung	lung
49	chr6:150040000-150049800	Weak transcription	Pancreas	Pancrea
50	chr6:150040000-150050000	Weak transcription	Esophagus	oesophagus

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