Variant report

Variant	rs4744319
Chromosome Location	chr9:96901169-96901170
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:96899589..96905668-chr9:96926948..96930471,6	MCF-7	breast:
2	chr9:96855903..96857740-chr9:96900937..96903523,2	MCF-7	breast:
3	chr9:96901085..96902966-chr9:96921856..96923977,2	K562	blood:
4	chr9:96899950..96905236-chr9:96927673..96930558,7	K562	blood:
5	chr9:96899950..96904180-chr9:96926741..96930558,5	K562	blood:
6	chr9:96897901..96900583-chr9:96900946..96903604,5	MCF-7	breast:
7	chr9:96900996..96905420-chr9:96905582..96911723,7	K562	blood:
8	chr9:96899016..96906502-chr9:96926750..96931118,14	MCF-7	breast:
9	chr9:96900977..96902501-chr9:96919516..96921302,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000269946	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10821301	0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10993067	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2398937	0.89[EUR][1000 genomes]
rs748054	0.94[ASN][1000 genomes]
rs959802	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[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	nsv482457	chr9:96813852-96996170	Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	217 gene(s)	inside rSNPs	diseases
2	nsv831655	chr9:96834042-97042009	Enhancers Weak transcription Genic enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	218 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:96896400-96902400	Enhancers	HMEC	breast
2	chr9:96896800-96901800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr9:96896800-96902200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr9:96897200-96902400	Weak transcription	Ovary	ovary
5	chr9:96897200-96902400	Weak transcription	Right Ventricle	heart
6	chr9:96897600-96902400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr9:96897800-96901400	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr9:96897800-96901400	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr9:96897800-96902400	Weak transcription	Gastric	stomach
10	chr9:96897800-96902600	Weak transcription	Small Intestine	intestine
11	chr9:96898000-96901400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr9:96898000-96901400	Weak transcription	Fetal Stomach	stomach
13	chr9:96898000-96901800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr9:96898200-96901400	Enhancers	Muscle Satellite Cultured Cells	--
15	chr9:96898200-96901400	Weak transcription	NHDF-Ad	bronchial
16	chr9:96898200-96901400	Weak transcription	NHLF	lung
17	chr9:96898200-96901600	Weak transcription	Fetal Lung	lung
18	chr9:96898200-96902000	Weak transcription	Stomach Smooth Muscle	stomach
19	chr9:96898200-96902200	Weak transcription	Colon Smooth Muscle	Colon
20	chr9:96898200-96902400	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr9:96898400-96901400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr9:96898400-96901400	Weak transcription	Rectal Smooth Muscle	rectum
23	chr9:96898400-96902200	Enhancers	K562	blood
24	chr9:96899600-96903800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr9:96900200-96902000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr9:96900400-96901800	Enhancers	HSMMtube	muscle
27	chr9:96900400-96907400	Enhancers	Breast Myoepithelial Primary Cells	Breast
28	chr9:96900600-96901600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr9:96900600-96901600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
30	chr9:96900600-96902400	Weak transcription	Primary hematopoietic stem cells	blood
31	chr9:96900800-96901400	Enhancers	Hela-S3	cervix
32	chr9:96900800-96901600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr9:96900800-96901600	Enhancers	Aorta	Aorta
34	chr9:96900800-96901600	Enhancers	Esophagus	oesophagus
35	chr9:96900800-96901600	Enhancers	Left Ventricle	heart
36	chr9:96900800-96901600	Enhancers	Psoas Muscle	Psoas
37	chr9:96900800-96901600	Enhancers	Right Atrium	heart
38	chr9:96900800-96901800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr9:96900800-96901800	Enhancers	Lung	lung
40	chr9:96900800-96902000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr9:96900800-96902000	Enhancers	NH-A	brain
42	chr9:96900800-96902200	Enhancers	Adipose Nuclei	Adipose
43	chr9:96900800-96902200	Enhancers	HUVEC	blood vessel
44	chr9:96900800-96902400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr9:96900800-96902400	Enhancers	HSMM	muscle
46	chr9:96900800-96902400	Enhancers	NHEK	skin
47	chr9:96900800-96903200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr9:96901000-96902200	Enhancers	Osteobl	bone
49	chr9:96901000-96902400	Weak transcription	Brain Substantia Nigra	brain
50	chr9:96901000-96904000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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