Variant report

Variant	rs72743443
Chromosome Location	chr9:96062851-96062852
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:96062175..96064911-chr9:96066749..96068321,2	K562	blood:
2	chr9:96051323..96053243-chr9:96062716..96065079,2	MCF-7	breast:
3	chr9:96062588..96064123-chr9:96065486..96067429,2	MCF-7	breast:
4	chr9:96054205..96058755-chr9:96061052..96064429,5	MCF-7	breast:
5	chr9:96061509..96064147-chr9:96212332..96213983,2	MCF-7	breast:
6	chr9:96062201..96063792-chr9:96065861..96068764,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000188938	Chromatin interaction
ENSG00000165238	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10122466	0.92[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs10512233	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs16909000	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs16909005	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16909016	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16936750	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16936752	0.95[EUR][1000 genomes]
rs1891971	0.85[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs1891972	0.92[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs1891973	0.92[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs1936403	0.83[AMR][1000 genomes]
rs1970622	0.92[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs4744197	0.83[AMR][1000 genomes]
rs4744205	0.97[ASN][1000 genomes]
rs55643343	0.95[EUR][1000 genomes]
rs55692827	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55706397	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs55795421	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56300939	0.95[EUR][1000 genomes]
rs59491442	0.84[EUR][1000 genomes]
rs6479467	0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7029968	0.85[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs72743431	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72743433	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72743435	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72743442	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72743444	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72743445	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72743446	0.84[EUR][1000 genomes]
rs72743448	0.84[EUR][1000 genomes]
rs72743449	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72743451	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7859604	0.92[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs7859628	0.92[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs7871272	0.92[AMR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	nsv893583	chr9:95996573-96091688	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	nsv893584	chr9:96002983-96116937	Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:96033000-96067200	Weak transcription	Brain Angular Gyrus	brain
2	chr9:96033400-96067000	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr9:96033400-96077200	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr9:96033600-96072800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr9:96047200-96065000	Weak transcription	Fetal Brain Male	brain
6	chr9:96051400-96067800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr9:96052200-96066600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr9:96055600-96080200	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr9:96056400-96079800	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr9:96056800-96067400	Weak transcription	Brain Anterior Caudate	brain
11	chr9:96058000-96063200	Weak transcription	Right Atrium	heart
12	chr9:96058200-96064600	Weak transcription	Primary B cells from peripheral blood	blood
13	chr9:96058200-96064600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
14	chr9:96059000-96063800	Enhancers	Fetal Heart	heart
15	chr9:96059400-96064200	Strong transcription	Fetal Brain Female	brain
16	chr9:96059600-96063000	Enhancers	Duodenum Mucosa	Duodenum
17	chr9:96059600-96063000	Enhancers	Skeletal Muscle Male	skeletal muscle
18	chr9:96059600-96067000	Enhancers	Skeletal Muscle Female	skeletal muscle
19	chr9:96059800-96064600	Strong transcription	Brain Germinal Matrix	brain
20	chr9:96060000-96063600	Genic enhancers	Rectal Mucosa Donor 31	rectum
21	chr9:96060000-96065000	Enhancers	Colonic Mucosa	Colon
22	chr9:96060000-96066200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr9:96060400-96063400	Genic enhancers	Fetal Intestine Small	intestine
24	chr9:96060800-96063400	Enhancers	Sigmoid Colon	Sigmoid Colon
25	chr9:96061000-96065800	Weak transcription	Colon Smooth Muscle	Colon
26	chr9:96061000-96072200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr9:96061200-96067400	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr9:96061400-96064000	Weak transcription	Fetal Thymus	thymus
29	chr9:96061400-96075000	Weak transcription	Rectal Smooth Muscle	rectum
30	chr9:96061600-96063200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr9:96061600-96063200	Enhancers	Fetal Intestine Large	intestine
32	chr9:96061600-96066800	Weak transcription	Brain Cingulate Gyrus	brain
33	chr9:96061600-96066800	Weak transcription	Left Ventricle	heart
34	chr9:96061600-96067000	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr9:96061600-96070200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr9:96061600-96079000	Weak transcription	Gastric	stomach
37	chr9:96061800-96063000	Weak transcription	A549	lung
38	chr9:96061800-96065200	Strong transcription	Fetal Stomach	stomach
39	chr9:96061800-96066200	Weak transcription	Cortex derived primary cultured neurospheres	brain
40	chr9:96062000-96063000	Weak transcription	Spleen	Spleen
41	chr9:96062000-96063200	Strong transcription	Pancreas	Pancrea
42	chr9:96062000-96063600	Weak transcription	Placenta	Placenta
43	chr9:96062000-96063800	Weak transcription	Primary neutrophils fromperipheralblood	blood
44	chr9:96062000-96063800	Strong transcription	Stomach Smooth Muscle	stomach
45	chr9:96062000-96066600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
46	chr9:96062400-96063200	Enhancers	Rectal Mucosa Donor 29	rectum
47	chr9:96062400-96063200	Enhancers	Stomach Mucosa	stomach
48	chr9:96062400-96065600	Enhancers	HepG2	liver
49	chr9:96062600-96063200	Enhancers	Psoas Muscle	Psoas
50	chr9:96062600-96069200	Enhancers	Fetal Muscle Leg	muscle

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