Variant report

Variant	rs17072699
Chromosome Location	chr13:49672341-49672342
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:49549495..49551590-chr13:49668953..49673259,5	MCF-7	breast:
2	chr13:49671638..49674479-chr13:49679407..49680982,2	MCF-7	breast:
3	chr13:49549107..49552460-chr13:49669963..49673949,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000102531	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11838683	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11841156	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11841457	1.00[YRI][hapmap];1.00[EUR][1000 genomes]
rs74074567	1.00[EUR][1000 genomes]
rs74074585	1.00[EUR][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	nsv1049117	chr13:49089476-49928945	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv455882	chr13:49531551-49679157	Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv561593	chr13:49531551-49679157	Genic enhancers Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	esv1793883	chr13:49543723-49789164	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
5	nsv1035	chr13:49656225-49700371	Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
6	esv1796840	chr13:49671215-49760666	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:49627400-49672400	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr13:49639600-49687200	Weak transcription	Pancreas	Pancrea
3	chr13:49640600-49683800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr13:49649400-49684200	Weak transcription	Right Ventricle	heart
5	chr13:49651800-49684000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
6	chr13:49651800-49684000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr13:49655600-49684200	Weak transcription	Primary B cells from peripheral blood	blood
8	chr13:49656000-49673000	Weak transcription	Primary monocytes fromperipheralblood	blood
9	chr13:49657200-49692400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr13:49657400-49674800	Weak transcription	Fetal Intestine Large	intestine
11	chr13:49657400-49674800	Weak transcription	Placenta	Placenta
12	chr13:49657400-49684000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr13:49657800-49683800	Weak transcription	Primary B cells from cord blood	blood
14	chr13:49659400-49672800	Weak transcription	Monocytes-CD14+_RO01746	blood
15	chr13:49660000-49683600	Weak transcription	Primary T cells from cord blood	blood
16	chr13:49664000-49684000	Weak transcription	Primary hematopoietic stem cells	blood
17	chr13:49665200-49684000	Weak transcription	Fetal Stomach	stomach
18	chr13:49666200-49684200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr13:49666400-49682400	Weak transcription	Fetal Intestine Small	intestine
20	chr13:49667000-49672600	Enhancers	Pancreatic Islets	Pancreatic Islet
21	chr13:49669800-49672400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr13:49669800-49673600	Enhancers	Hela-S3	cervix
23	chr13:49669800-49673600	Enhancers	NHDF-Ad	bronchial
24	chr13:49670000-49673400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr13:49670200-49672400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr13:49670200-49673600	Enhancers	Muscle Satellite Cultured Cells	--
27	chr13:49670600-49673600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr13:49670600-49673600	Genic enhancers	GM12878-XiMat	blood
29	chr13:49670600-49673600	Enhancers	Osteobl	bone
30	chr13:49670800-49673200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr13:49670800-49673600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr13:49670800-49673600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr13:49670800-49673600	Enhancers	HMEC	breast
34	chr13:49670800-49674200	Enhancers	Fetal Heart	heart
35	chr13:49671000-49673000	Enhancers	HSMMtube	muscle
36	chr13:49671000-49673200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr13:49671000-49673600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr13:49671200-49673600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr13:49671200-49673600	Enhancers	HSMM	muscle
40	chr13:49671200-49673600	Enhancers	NHLF	lung
41	chr13:49671200-49674000	Enhancers	HUVEC	blood vessel
42	chr13:49671400-49672400	Weak transcription	Brain Substantia Nigra	brain
43	chr13:49671400-49673000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
44	chr13:49671400-49673400	Enhancers	Rectal Smooth Muscle	rectum
45	chr13:49671400-49673600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr13:49671400-49673600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
47	chr13:49671400-49673800	Enhancers	Duodenum Smooth Muscle	Duodenum
48	chr13:49671600-49672600	Enhancers	Ovary	ovary
49	chr13:49671600-49673200	Enhancers	Colon Smooth Muscle	Colon
50	chr13:49671600-49673200	Enhancers	Skeletal Muscle Female	skeletal muscle

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