Variant report

Variant	rs4448832
Chromosome Location	chr13:48795034-48795035
allele	C/G
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
ENSG00000136161	Chromatin interaction
ENSG00000136156	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs12100070	0.92[EUR][1000 genomes]
rs13378199	1.00[EUR][1000 genomes]
rs13378726	1.00[EUR][1000 genomes]
rs9316366	1.00[EUR][1000 genomes]
rs9595854	0.92[EUR][1000 genomes]
rs9595857	1.00[EUR][1000 genomes]
rs9595869	1.00[EUR][1000 genomes]
rs9595872	1.00[AMR][1000 genomes];0.83[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:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:48789000-48796600	Weak transcription	Ovary	ovary
2	chr13:48789400-48796400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr13:48789600-48796800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr13:48790200-48795200	Weak transcription	Osteobl	bone
5	chr13:48793200-48795200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
6	chr13:48793600-48795200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
7	chr13:48794000-48795200	Enhancers	Primary B cells from cord blood	blood
8	chr13:48794000-48795200	Enhancers	Small Intestine	intestine
9	chr13:48794000-48796000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
10	chr13:48794000-48796600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr13:48794000-48796800	Enhancers	Fetal Thymus	thymus
12	chr13:48794000-48797200	Enhancers	Primary B cells from peripheral blood	blood
13	chr13:48794000-48797400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
14	chr13:48794000-48797400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
15	chr13:48794200-48795800	Enhancers	Brain Hippocampus Middle	brain
16	chr13:48794200-48796000	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
17	chr13:48794200-48796600	Enhancers	Primary monocytes fromperipheralblood	blood
18	chr13:48794400-48795400	Enhancers	Fetal Intestine Large	intestine
19	chr13:48794400-48796000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
20	chr13:48794600-48795200	Enhancers	Duodenum Mucosa	Duodenum
21	chr13:48794600-48796000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
22	chr13:48794600-48796200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
23	chr13:48794600-48796800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
24	chr13:48794600-48796800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
25	chr13:48794600-48797400	Enhancers	Fetal Intestine Small	intestine
26	chr13:48794800-48795200	Enhancers	Primary hematopoietic stem cells short term culture	blood
27	chr13:48794800-48795200	Enhancers	Adipose Nuclei	Adipose
28	chr13:48794800-48795200	Enhancers	GM12878-XiMat	blood
29	chr13:48794800-48795400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr13:48794800-48795400	Enhancers	HepG2	liver
31	chr13:48794800-48795800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
32	chr13:48794800-48796000	Flanking Active TSS	Primary T cells from cord blood	blood
33	chr13:48794800-48796000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
34	chr13:48794800-48796000	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
35	chr13:48794800-48796000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr13:48794800-48796000	Enhancers	Brain Cingulate Gyrus	brain
37	chr13:48794800-48796000	Enhancers	Duodenum Smooth Muscle	Duodenum
38	chr13:48794800-48796200	Flanking Active TSS	Dnd41	blood
39	chr13:48794800-48797400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr13:48795000-48795600	Flanking Active TSS	Primary hematopoietic stem cells	blood
41	chr13:48795000-48795800	Weak transcription	Fetal Stomach	stomach
42	chr13:48795000-48795800	Active TSS	Rectal Mucosa Donor 29	rectum
43	chr13:48795000-48795800	Enhancers	Rectal Mucosa Donor 31	rectum
44	chr13:48795000-48795800	Flanking Active TSS	Thymus	Thymus
45	chr13:48795000-48796000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr13:48795000-48796200	Enhancers	Colon Smooth Muscle	Colon
47	chr13:48795000-48796200	Enhancers	HUVEC	blood vessel
48	chr13:48795000-48796400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr13:48795000-48796800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--

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