Variant report

Variant	rs4744412
Chromosome Location	chr9:97690501-97690502
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	chr9:97687410..97690571-chr9:97710837..97713862,3	MCF-7	breast:
2	chr9:97674991..97691307-chr9:97751911..97773298,151	MCF-7	breast:
3	chr9:97688794..97691032-chr9:97848721..97850468,2	MCF-7	breast:
4	chr9:97572097..97590438-chr9:97672990..97690806,63	MCF-7	breast:
5	chr9:97671639..97694679-chr9:97760418..97786060,142	MCF-7	breast:
6	chr9:97687078..97690879-chr9:97725543..97729239,3	MCF-7	breast:
7	chr9:97688635..97691116-chr9:97722109..97725030,2	MCF-7	breast:
8	chr9:97688920..97691846-chr9:97741162..97743776,2	K562	blood:
9	chr9:97562492..97588737-chr9:97670126..97691056,102	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000148120	Chromatin interaction
ENSG00000230815	Chromatin interaction
ENSG00000252153	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10081676	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10217143	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10761361	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10821410	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10821413	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10993387	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12338409	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12338859	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12344211	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12347649	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4743974	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7862219	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7870160	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9802263	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[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	nsv933919	chr9:97619512-97919344	Weak transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	293 gene(s)	inside rSNPs	diseases
2	nsv1045849	chr9:97688810-97741336	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:97660800-97702400	Weak transcription	Primary B cells from cord blood	blood
2	chr9:97670600-97766000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr9:97680400-97698000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr9:97680600-97700000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr9:97682000-97713800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr9:97682200-97691200	Enhancers	Placenta	Placenta
7	chr9:97684200-97699600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr9:97684800-97711000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr9:97685200-97690600	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr9:97685200-97693000	Weak transcription	Small Intestine	intestine
11	chr9:97685200-97714600	Weak transcription	Primary hematopoietic stem cells	blood
12	chr9:97685400-97690600	Weak transcription	HUVEC	blood vessel
13	chr9:97685600-97699600	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr9:97685800-97693600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr9:97686000-97690800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr9:97686000-97691400	Weak transcription	Spleen	Spleen
17	chr9:97686000-97698800	Weak transcription	Rectal Smooth Muscle	rectum
18	chr9:97686200-97690800	Strong transcription	Primary T cells from cord blood	blood
19	chr9:97686200-97694200	Genic enhancers	A549	lung
20	chr9:97686400-97691600	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr9:97686400-97695200	Weak transcription	Ovary	ovary
22	chr9:97686600-97690600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr9:97686600-97691200	Weak transcription	Right Atrium	heart
24	chr9:97686800-97691800	Weak transcription	Brain Germinal Matrix	brain
25	chr9:97687000-97693800	Enhancers	HepG2	liver
26	chr9:97687000-97699400	Weak transcription	Fetal Heart	heart
27	chr9:97687000-97714000	Weak transcription	Thymus	Thymus
28	chr9:97687200-97690800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr9:97687200-97691400	Strong transcription	Fetal Stomach	stomach
30	chr9:97687200-97694400	Strong transcription	HSMM	muscle
31	chr9:97687400-97692800	Strong transcription	Muscle Satellite Cultured Cells	--
32	chr9:97687600-97690600	Enhancers	Breast Myoepithelial Primary Cells	Breast
33	chr9:97687600-97692200	Strong transcription	HSMMtube	muscle
34	chr9:97687600-97693000	Strong transcription	Fetal Intestine Small	intestine
35	chr9:97687800-97690800	Enhancers	Esophagus	oesophagus
36	chr9:97687800-97691000	Enhancers	Lung	lung
37	chr9:97687800-97692000	Enhancers	Stomach Mucosa	stomach
38	chr9:97687800-97692600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr9:97688000-97691000	Enhancers	Pancreas	Pancrea
40	chr9:97688400-97693400	Enhancers	Adipose Nuclei	Adipose
41	chr9:97688800-97693200	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr9:97688800-97694600	Enhancers	Hela-S3	cervix
43	chr9:97689000-97690600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr9:97689000-97690600	Weak transcription	Sigmoid Colon	Sigmoid Colon
45	chr9:97689000-97690600	Weak transcription	NHEK	skin
46	chr9:97689000-97695200	Weak transcription	Aorta	Aorta
47	chr9:97689000-97699400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr9:97689200-97690600	Weak transcription	Cortex derived primary cultured neurospheres	brain
49	chr9:97689200-97691800	Weak transcription	Gastric	stomach
50	chr9:97689200-97699600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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