Variant report

Variant	rs2382371
Chromosome Location	chr9:12780295-12780296
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:12779288..12781566-chr9:12835012..12836710,2	MCF-7	breast:
2	chr9:12778616..12780365-chr9:12854007..12856066,2	MCF-7	breast:
3	chr9:12774525..12776496-chr9:12779870..12781458,2	MCF-7	breast:
4	chr9:12774109..12791345-chr9:12812800..12822770,37	MCF-7	breast:
5	chr9:12777697..12781582-chr9:12805623..12809956,4	MCF-7	breast:
6	chr9:12773974..12784053-chr9:12813051..12820453,19	MCF-7	breast:

Variant related genes	Relation type
ENSG00000235448	Chromatin interaction
ENSG00000153714	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10120645	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10120667	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10120695	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10756412	0.81[AMR][1000 genomes]
rs10756413	0.81[AMR][1000 genomes]
rs10809839	0.82[CHB][hapmap];0.88[JPT][hapmap];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10809840	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10809841	0.88[JPT][hapmap];0.84[AMR][1000 genomes]
rs10809842	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10809843	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.82[TSI][hapmap];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10809845	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10960792	0.81[CHB][hapmap];0.88[JPT][hapmap];0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1326800	0.82[CHB][hapmap];0.82[JPT][hapmap];1.00[MEX][hapmap];0.82[AMR][1000 genomes]
rs1359701	0.88[JPT][hapmap]
rs2147250	0.80[CHB][hapmap];0.94[JPT][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2181817	0.90[ASN][1000 genomes]
rs4387064	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7468492	0.84[CHB][hapmap];0.88[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2759671	chr9:12235048-12784092	Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv1034393	chr9:12278703-12798236	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv869288	chr9:12286919-12816766	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv498136	chr9:12387840-12984158	Genic enhancers Enhancers Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
5	nsv1029415	chr9:12424340-12794623	Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv540064	chr9:12424340-12794623	Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
7	esv2422212	chr9:12448789-13127738	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
8	esv2758182	chr9:12621991-12784092	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
9	nsv1030835	chr9:12717405-12840928	Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
10	nsv892573	chr9:12730636-12874703	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
11	nsv892574	chr9:12754969-12918226	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:12776800-12784400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr9:12777000-12784000	Weak transcription	Stomach Mucosa	stomach
3	chr9:12777000-12784200	Weak transcription	Small Intestine	intestine
4	chr9:12777000-12784200	Weak transcription	K562	blood
5	chr9:12777000-12784400	Weak transcription	HUVEC	blood vessel
6	chr9:12777000-12784600	Weak transcription	Left Ventricle	heart
7	chr9:12777000-12784800	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr9:12777200-12784000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr9:12777400-12781400	Weak transcription	Brain Anterior Caudate	brain
10	chr9:12777400-12781800	Weak transcription	Fetal Muscle Trunk	muscle
11	chr9:12777400-12785000	Weak transcription	Lung	lung
12	chr9:12778200-12781400	Weak transcription	Aorta	Aorta
13	chr9:12778200-12784400	Weak transcription	Placenta	Placenta
14	chr9:12778400-12782200	Weak transcription	Fetal Intestine Large	intestine
15	chr9:12778400-12784200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr9:12778400-12784600	Weak transcription	Pancreas	Pancrea
17	chr9:12778400-12785000	Weak transcription	Brain Cingulate Gyrus	brain
18	chr9:12778400-12785000	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr9:12778400-12785200	Weak transcription	Ovary	ovary
20	chr9:12778600-12783800	Weak transcription	HMEC	breast
21	chr9:12778600-12785400	Weak transcription	Liver	Liver
22	chr9:12778800-12783400	Weak transcription	HSMMtube	muscle
23	chr9:12778800-12784000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr9:12778800-12784200	Weak transcription	Fetal Stomach	stomach
25	chr9:12779000-12780400	Enhancers	Pancreatic Islets	Pancreatic Islet
26	chr9:12779000-12781400	Weak transcription	Stomach Smooth Muscle	stomach
27	chr9:12779000-12781600	Weak transcription	Fetal Kidney	kidney
28	chr9:12779000-12783600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr9:12779000-12784000	Weak transcription	NHEK	skin
30	chr9:12779000-12784200	Weak transcription	Fetal Intestine Small	intestine
31	chr9:12779000-12785000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr9:12779200-12780400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr9:12779200-12781400	Weak transcription	Rectal Mucosa Donor 31	rectum
34	chr9:12779200-12781800	Weak transcription	Fetal Brain Male	brain
35	chr9:12779200-12785400	Weak transcription	Rectal Mucosa Donor 29	rectum
36	chr9:12779400-12780600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr9:12779400-12782400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr9:12779600-12780400	Genic enhancers	NHLF	lung
39	chr9:12779600-12780600	Transcr. at gene 5' and 3'	Fetal Lung	lung
40	chr9:12779600-12780600	Genic enhancers	A549	lung
41	chr9:12779800-12780400	Enhancers	Brain Hippocampus Middle	brain
42	chr9:12779800-12780400	Enhancers	Brain Substantia Nigra	brain
43	chr9:12779800-12780400	Enhancers	Hela-S3	cervix
44	chr9:12779800-12780800	Enhancers	Rectal Smooth Muscle	rectum
45	chr9:12780000-12780400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr9:12780000-12780400	Strong transcription	Fetal Muscle Leg	muscle
47	chr9:12780000-12782200	Weak transcription	HepG2	liver
48	chr9:12780000-12785000	Weak transcription	Right Atrium	heart
49	chr9:12780200-12780400	Flanking Active TSS	Colon Smooth Muscle	Colon
50	chr9:12780200-12780400	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum

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