Variant report

Variant	rs4744198
Chromosome Location	chr9:95986997-95986998
allele	C/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:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:95979216..95981957-chr9:95985560..95987157,3	MCF-7	breast:
2	chr9:95969627..95972419-chr9:95984512..95987236,2	MCF-7	breast:
3	chr9:95985503..95987734-chr9:95991883..95994859,2	K562	blood:
4	chr9:95985013..95987112-chr9:96075720..96077410,2	MCF-7	breast:
5	chr9:95961414..95965641-chr9:95984083..95987391,7	MCF-7	breast:
6	chr9:95984275..95988045-chr9:96050195..96053603,3	MCF-7	breast:
7	chr9:95986103..95988275-chr9:96054683..96057592,2	MCF-7	breast:
8	chr9:95969895..95975601-chr9:95984404..95988658,5	MCF-7	breast:
9	chr9:95941785..95943328-chr9:95985699..95988332,2	MCF-7	breast:
10	chr9:95895675..95897780-chr9:95985604..95987775,2	MCF-7	breast:
11	chr9:95964307..95966000-chr9:95985456..95987978,3	MCF-7	breast:
12	chr9:95986232..95989447-chr9:96010468..96012463,3	MCF-7	breast:
13	chr9:95984333..95987281-chr9:96026818..96031361,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000131669	Chromatin interaction
ENSG00000165238	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10821085	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10992665	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12348559	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12552304	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12553462	0.81[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs12554962	0.86[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];0.96[TSI][hapmap];0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17594889	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1974379	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs34610897	0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4743898	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4743910	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4744187	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4744191	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];0.82[TSI][hapmap];1.00[ASN][1000 genomes]
rs4744193	1.00[ASN][1000 genomes]
rs4744194	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs4744199	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.85[TSI][hapmap];0.96[ASN][1000 genomes]
rs4744216	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs60142142	0.81[EUR][1000 genomes]
rs60604890	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73517595	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs73523697	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73527611	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73527643	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73527659	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs753697	0.87[CEU][hapmap];1.00[CHB][hapmap];0.84[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];0.96[TSI][hapmap];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7864826	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AMR][1000 genomes];0.99[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	nsv526296	chr9:95708192-96030392	Enhancers Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv893576	chr9:95789960-96158277	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv893580	chr9:95855100-96099377	Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
4	nsv430082	chr9:95905745-96095045	Genic enhancers Enhancers Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
5	nsv893582	chr9:95963114-96116937	Bivalent Enhancer Bivalent/Poised TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:95979600-95992200	Enhancers	Left Ventricle	heart
2	chr9:95981600-95989200	Enhancers	Skeletal Muscle Female	skeletal muscle
3	chr9:95983200-95987200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
4	chr9:95984800-95998000	Enhancers	Pancreas	Pancrea
5	chr9:95985200-95987800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr9:95985200-95988200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr9:95985200-95988200	Enhancers	HMEC	breast
8	chr9:95985200-95988400	Enhancers	Primary B cells from peripheral blood	blood
9	chr9:95985200-95989000	Enhancers	Rectal Mucosa Donor 29	rectum
10	chr9:95985200-95989400	Enhancers	Right Ventricle	heart
11	chr9:95985200-95990400	Enhancers	Rectal Mucosa Donor 31	rectum
12	chr9:95985400-95987000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr9:95985400-95987000	Bivalent Enhancer	Fetal Stomach	stomach
14	chr9:95985400-95987000	Flanking Active TSS	Hela-S3	cervix
15	chr9:95985400-95987200	Enhancers	Fetal Muscle Leg	muscle
16	chr9:95985400-95987200	Enhancers	Stomach Mucosa	stomach
17	chr9:95985400-95987400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr9:95985400-95987400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
19	chr9:95985400-95987400	Enhancers	Brain Germinal Matrix	brain
20	chr9:95985400-95987400	Genic enhancers	Fetal Intestine Small	intestine
21	chr9:95985400-95987400	Enhancers	Fetal Thymus	thymus
22	chr9:95985400-95987400	Enhancers	Gastric	stomach
23	chr9:95985400-95987400	Enhancers	Psoas Muscle	Psoas
24	chr9:95985400-95987400	Enhancers	Right Atrium	heart
25	chr9:95985400-95987600	Enhancers	Colon Smooth Muscle	Colon
26	chr9:95985400-95987600	Enhancers	Fetal Intestine Large	intestine
27	chr9:95985400-95987800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr9:95985400-95988200	Enhancers	Esophagus	oesophagus
29	chr9:95985400-95988200	Enhancers	Fetal Brain Female	brain
30	chr9:95985400-95988400	Enhancers	Fetal Brain Male	brain
31	chr9:95985400-95988600	Enhancers	Sigmoid Colon	Sigmoid Colon
32	chr9:95985400-95988600	Enhancers	Skeletal Muscle Male	skeletal muscle
33	chr9:95985400-95989400	Enhancers	Duodenum Mucosa	Duodenum
34	chr9:95985600-95987200	Enhancers	Brain Hippocampus Middle	brain
35	chr9:95985600-95987400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr9:95985600-95987400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
37	chr9:95985600-95987400	Enhancers	Spleen	Spleen
38	chr9:95985600-95987400	Enhancers	HepG2	liver
39	chr9:95985600-95987600	Enhancers	H1 Cell Line	embryonic stem cell
40	chr9:95985600-95987800	Enhancers	NHEK	skin
41	chr9:95985600-95988200	Enhancers	Brain Anterior Caudate	brain
42	chr9:95985800-95987400	Enhancers	iPS-20b Cell Line	embryonic stem cell
43	chr9:95985800-95987800	Weak transcription	Primary B cells from cord blood	blood
44	chr9:95986000-95987200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr9:95986000-95987200	Enhancers	Colonic Mucosa	Colon
46	chr9:95986000-95987400	Enhancers	Duodenum Smooth Muscle	Duodenum
47	chr9:95986200-95987400	Enhancers	A549	lung
48	chr9:95986200-95987600	Weak transcription	Primary hematopoietic stem cells	blood
49	chr9:95986200-95987600	Weak transcription	Brain Inferior Temporal Lobe	brain
50	chr9:95986200-95988200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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