Variant report

Variant	rs9448735
Chromosome Location	chr6:80220608-80220609
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:80211479..80218062-chr6:80218996..80224127,6	K562	blood:
2	chr6:80220196..80223373-chr6:80227964..80230707,4	K562	blood:

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

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10484940	0.80[EUR][1000 genomes]
rs12206063	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1485363	0.82[ASN][1000 genomes]
rs1485364	0.81[ASN][1000 genomes]
rs1485365	0.82[ASN][1000 genomes]
rs1827628	0.99[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2220191	0.82[ASN][1000 genomes]
rs2575197	0.84[ASN][1000 genomes]
rs2575200	0.82[ASN][1000 genomes]
rs2575214	0.84[ASN][1000 genomes]
rs2575215	0.84[ASN][1000 genomes]
rs2575216	0.84[ASN][1000 genomes]
rs2575217	0.84[ASN][1000 genomes]
rs2575218	0.84[ASN][1000 genomes]
rs2629468	0.84[ASN][1000 genomes]
rs2655675	0.82[ASN][1000 genomes]
rs2655676	0.81[ASN][1000 genomes]
rs2655678	0.82[ASN][1000 genomes]
rs2803194	0.84[ASN][1000 genomes]
rs767789	0.83[ASN][1000 genomes]
rs7753415	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7756061	0.97[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs9448729	0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1028607	chr6:79853272-80767716	Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv886301	chr6:80111104-80339088	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv886302	chr6:80111104-80355973	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv1027388	chr6:80113449-80355973	ZNF genes & repeats Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
5	nsv830707	chr6:80134625-80325171	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
6	nsv1029259	chr6:80142754-80340332	Active TSS Strong transcription Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
7	nsv886303	chr6:80147225-80252423	Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:80171600-80226600	Weak transcription	Brain Hippocampus Middle	brain
2	chr6:80179800-80235000	Weak transcription	HSMMtube	muscle
3	chr6:80181400-80222000	Weak transcription	Left Ventricle	heart
4	chr6:80189600-80225200	Weak transcription	Stomach Smooth Muscle	stomach
5	chr6:80190200-80234400	Weak transcription	Fetal Intestine Large	intestine
6	chr6:80192400-80223200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr6:80192400-80226800	Weak transcription	Brain Anterior Caudate	brain
8	chr6:80194800-80225400	Weak transcription	Colon Smooth Muscle	Colon
9	chr6:80195400-80235000	Weak transcription	Fetal Muscle Leg	muscle
10	chr6:80197400-80224200	Weak transcription	Fetal Muscle Trunk	muscle
11	chr6:80198000-80221400	Weak transcription	HSMM	muscle
12	chr6:80198400-80235000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr6:80199000-80235000	Weak transcription	Adipose Nuclei	Adipose
14	chr6:80207600-80246000	Weak transcription	Ovary	ovary
15	chr6:80209000-80222400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr6:80209000-80235000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr6:80209200-80221000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr6:80210400-80222800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr6:80210800-80221600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr6:80212400-80232600	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr6:80213000-80224400	Weak transcription	Brain Cingulate Gyrus	brain
22	chr6:80214400-80235000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr6:80214600-80246000	Weak transcription	Fetal Stomach	stomach
24	chr6:80215200-80229600	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr6:80216000-80236800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr6:80216200-80222800	Weak transcription	Brain Substantia Nigra	brain
27	chr6:80216400-80235000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr6:80216400-80235000	Weak transcription	NH-A	brain
29	chr6:80217600-80221800	Weak transcription	HUES64 Cell Line	embryonic stem cell
30	chr6:80217600-80224000	Weak transcription	Brain Germinal Matrix	brain
31	chr6:80217600-80235000	Weak transcription	Pancreas	Pancrea
32	chr6:80217800-80223000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr6:80217800-80227200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr6:80217800-80246000	Weak transcription	Aorta	Aorta
35	chr6:80218000-80221600	Weak transcription	Duodenum Smooth Muscle	Duodenum
36	chr6:80218200-80244000	Weak transcription	Fetal Brain Female	brain
37	chr6:80218400-80228000	Weak transcription	K562	blood
38	chr6:80218400-80233800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr6:80219000-80220800	Weak transcription	Fetal Intestine Small	intestine
40	chr6:80219000-80235400	Weak transcription	Fetal Heart	heart
41	chr6:80219800-80221400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
42	chr6:80220200-80223800	Weak transcription	Primary hematopoietic stem cells	blood
43	chr6:80220400-80220800	ZNF genes & repeats	Fetal Lung	lung
44	chr6:80220400-80221400	Strong transcription	Fetal Kidney	kidney
45	chr6:80220400-80222400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr6:80220400-80230200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr6:80220600-80221000	Weak transcription	Pancreatic Islets	Pancreatic Islet
48	chr6:80220600-80221800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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