Variant report

Variant	rs9595876
Chromosome Location	chr13:48804937-48804938
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr13:48804921-48804978	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
ITM2B	TF binding region

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs4151477	1.00[CHB][hapmap]
rs4151526	1.00[CHB][hapmap]
rs9591152	1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 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	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:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:48796000-48806800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr13:48797200-48806200	Weak transcription	Ovary	ovary
3	chr13:48797400-48806200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
4	chr13:48797800-48806200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr13:48799400-48805600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
6	chr13:48799600-48805000	Weak transcription	Primary T helper cells PMA-I stimulated	--
7	chr13:48801400-48805000	Enhancers	HepG2	liver
8	chr13:48802600-48806200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr13:48803000-48805200	Weak transcription	K562	blood
10	chr13:48804200-48806600	Enhancers	Fetal Intestine Large	intestine
11	chr13:48804400-48805000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr13:48804400-48805800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr13:48804400-48806400	Enhancers	Primary T helper naive cells from peripheral blood	blood
14	chr13:48804400-48806600	Enhancers	Fetal Intestine Small	intestine
15	chr13:48804600-48806000	Weak transcription	Placenta	Placenta
16	chr13:48804600-48806200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr13:48804600-48806200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr13:48804600-48806800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr13:48804800-48805000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr13:48804800-48805000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr13:48804800-48805000	Enhancers	Rectal Mucosa Donor 31	rectum
22	chr13:48804800-48805400	Flanking Active TSS	A549	lung
23	chr13:48804800-48806000	Enhancers	Primary T helper cells fromperipheralblood	blood
24	chr13:48804800-48806200	Enhancers	Fetal Kidney	kidney
25	chr13:48804800-48806400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr13:48804800-48806400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
27	chr13:48804800-48806400	Enhancers	Primary T killer memory cells from peripheral blood	blood
28	chr13:48804800-48806400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr13:48804800-48806400	Enhancers	Stomach Mucosa	stomach
30	chr13:48804800-48806600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr13:48804800-48806800	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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