Variant report

Variant	rs9595872
Chromosome Location	chr13:48796586-48796587
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:48794842..48796984-chr13:49105821..49107922,2	MCF-7	breast:
2	chr13:48791747..48798562-chr13:48804762..48808839,8	MCF-7	breast:

Variant related genes	Relation type
ENSG00000136156	Chromatin interaction
ENSG00000136161	Chromatin interaction

Extended variants
information (count: 64 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs11840676	0.83[EUR][1000 genomes]
rs13378199	0.83[EUR][1000 genomes]
rs13378726	0.83[EUR][1000 genomes]
rs171989	0.91[EUR][1000 genomes]
rs185587	0.83[EUR][1000 genomes]
rs198559	0.91[EUR][1000 genomes]
rs198565	0.91[EUR][1000 genomes]
rs198566	0.91[EUR][1000 genomes]
rs198567	0.91[EUR][1000 genomes]
rs198600	0.91[EUR][1000 genomes]
rs198601	0.91[EUR][1000 genomes]
rs198613	0.91[EUR][1000 genomes]
rs198616	0.91[EUR][1000 genomes]
rs198617	0.91[EUR][1000 genomes]
rs198618	0.91[EUR][1000 genomes]
rs198628	0.91[EUR][1000 genomes]
rs198632	0.91[EUR][1000 genomes]
rs198636	0.91[EUR][1000 genomes]
rs2245534	0.83[EUR][1000 genomes]
rs2265777	0.83[EUR][1000 genomes]
rs2406932	0.83[EUR][1000 genomes]
rs2515668	0.83[EUR][1000 genomes]
rs2804082	0.91[EUR][1000 genomes]
rs2804084	0.91[EUR][1000 genomes]
rs2804085	0.91[EUR][1000 genomes]
rs2804086	0.91[EUR][1000 genomes]
rs2804087	0.91[EUR][1000 genomes]
rs2804088	0.91[EUR][1000 genomes]
rs2804089	0.91[EUR][1000 genomes]
rs2804091	0.83[EUR][1000 genomes]
rs2804092	0.83[EUR][1000 genomes]
rs2854352	0.83[EUR][1000 genomes]
rs2854356	0.83[EUR][1000 genomes]
rs2854363	0.91[EUR][1000 genomes]
rs2854364	0.91[EUR][1000 genomes]
rs2854365	0.83[EUR][1000 genomes]
rs411661	0.83[EUR][1000 genomes]
rs411862	0.91[EUR][1000 genomes]
rs416156	0.91[EUR][1000 genomes]
rs428431	0.91[EUR][1000 genomes]
rs4448832	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4625624	0.83[EUR][1000 genomes]
rs547747	0.91[EUR][1000 genomes]
rs61507973	0.83[EUR][1000 genomes]
rs7318012	0.83[EUR][1000 genomes]
rs7990103	0.91[EUR][1000 genomes]
rs8001351	0.83[EUR][1000 genomes]
rs9285166	0.83[EUR][1000 genomes]
rs9316366	0.83[EUR][1000 genomes]
rs9316371	0.83[EUR][1000 genomes]
rs9332248	0.83[EUR][1000 genomes]
rs9332281	0.83[EUR][1000 genomes]
rs9562817	0.91[EUR][1000 genomes]
rs9591153	0.83[EUR][1000 genomes]
rs9591154	0.83[EUR][1000 genomes]
rs9591155	0.83[EUR][1000 genomes]
rs9591163	0.91[EUR][1000 genomes]
rs9595857	0.83[EUR][1000 genomes]
rs9595869	0.83[EUR][1000 genomes]
rs9595894	0.91[EUR][1000 genomes]
rs9595909	0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv541766	chr13:48703229-48857639	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	esv3327569	chr13:48743550-48798094	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv1043294	chr13:48762477-48810028	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:48789000-48796600	Weak transcription	Ovary	ovary
2	chr13:48789600-48796800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr13:48794000-48796600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr13:48794000-48796800	Enhancers	Fetal Thymus	thymus
5	chr13:48794000-48797200	Enhancers	Primary B cells from peripheral blood	blood
6	chr13:48794000-48797400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
7	chr13:48794000-48797400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
8	chr13:48794200-48796600	Enhancers	Primary monocytes fromperipheralblood	blood
9	chr13:48794600-48796800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
10	chr13:48794600-48796800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
11	chr13:48794600-48797400	Enhancers	Fetal Intestine Small	intestine
12	chr13:48794800-48797400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr13:48795000-48796800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
14	chr13:48795200-48796600	Flanking Active TSS	Adipose Nuclei	Adipose
15	chr13:48795200-48797200	Active TSS	Stomach Smooth Muscle	stomach
16	chr13:48795400-48796600	Enhancers	Fetal Kidney	kidney
17	chr13:48795400-48796600	Enhancers	Fetal Lung	lung
18	chr13:48795400-48797400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr13:48795600-48796600	Flanking Active TSS	Duodenum Mucosa	Duodenum
20	chr13:48795600-48796800	Enhancers	Primary hematopoietic stem cells	blood
21	chr13:48795600-48796800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
22	chr13:48795800-48796600	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr13:48795800-48796800	Enhancers	Primary T cells fromperipheralblood	blood
24	chr13:48795800-48797000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr13:48795800-48797200	Enhancers	Primary hematopoietic stem cells short term culture	blood
26	chr13:48795800-48797200	Enhancers	Thymus	Thymus
27	chr13:48795800-48797600	Enhancers	Primary B cells from cord blood	blood
28	chr13:48796000-48796600	Enhancers	Primary T cells from cord blood	blood
29	chr13:48796000-48796600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
30	chr13:48796000-48796600	Enhancers	Primary T killer memory cells from peripheral blood	blood
31	chr13:48796000-48796600	Weak transcription	Brain Hippocampus Middle	brain
32	chr13:48796000-48796600	Weak transcription	Rectal Mucosa Donor 31	rectum
33	chr13:48796000-48796800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
34	chr13:48796000-48796800	Weak transcription	Fetal Stomach	stomach
35	chr13:48796000-48797200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
36	chr13:48796000-48797400	Enhancers	Primary T helper cells fromperipheralblood	blood
37	chr13:48796000-48806800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr13:48796200-48796600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr13:48796200-48796800	Enhancers	Primary T helper naive cells from peripheral blood	blood
40	chr13:48796200-48796800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr13:48796200-48797000	Flanking Active TSS	HepG2	liver
42	chr13:48796200-48797000	Active TSS	Osteobl	bone
43	chr13:48796200-48797200	Active TSS	Right Atrium	heart
44	chr13:48796200-48797200	Active TSS	Skeletal Muscle Male	skeletal muscle
45	chr13:48796200-48797600	Enhancers	Dnd41	blood
46	chr13:48796400-48796600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr13:48796400-48796600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
48	chr13:48796400-48796600	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
49	chr13:48796400-48796600	Enhancers	Fetal Intestine Large	intestine
50	chr13:48796400-48796600	Flanking Active TSS	Placenta	Placenta

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