Variant report

Variant	rs9530475
Chromosome Location	chr13:76445742-76445743
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs1015694	0.93[CHB][hapmap]
rs10507835	0.93[CHB][hapmap];0.81[JPT][hapmap];0.84[ASN][1000 genomes]
rs1323568	0.81[ASN][1000 genomes]
rs1542116	0.80[AMR][1000 genomes]
rs2120066	0.93[CHB][hapmap];0.86[ASN][1000 genomes]
rs4884024	0.93[CHB][hapmap]
rs7981821	0.93[CHB][hapmap]
rs9544060	0.93[CHB][hapmap]
rs9600572	0.93[CHB][hapmap]
rs9600574	0.93[CHB][hapmap]
rs9600575	0.93[CHB][hapmap]
rs9600577	0.93[CHB][hapmap]
rs969394	0.93[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832646	chr13:76300428-76483102	Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	esv2758333	chr13:76321610-76542003	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	esv2759950	chr13:76321610-76542003	Weak transcription Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
4	nsv832649	chr13:76424872-76657891	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:76440000-76469200	Weak transcription	HSMM	muscle
2	chr13:76444400-76451000	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr13:76444600-76449600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr13:76444800-76449000	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr13:76444800-76450400	Weak transcription	Fetal Heart	heart
6	chr13:76445000-76446000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
7	chr13:76445000-76446800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr13:76445000-76447200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr13:76445000-76449400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr13:76445000-76449400	Weak transcription	Fetal Thymus	thymus
11	chr13:76445000-76449600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr13:76445000-76450200	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr13:76445000-76450200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr13:76445000-76450400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr13:76445000-76450400	Weak transcription	Fetal Intestine Small	intestine
16	chr13:76445000-76450400	Weak transcription	GM12878-XiMat	blood
17	chr13:76445000-76450600	Weak transcription	Stomach Smooth Muscle	stomach
18	chr13:76445000-76450800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr13:76445000-76451000	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr13:76445200-76446000	Active TSS	Fetal Muscle Leg	muscle
21	chr13:76445200-76447400	Weak transcription	HMEC	breast
22	chr13:76445200-76449800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
23	chr13:76445200-76450000	Weak transcription	Primary T helper cells PMA-I stimulated	--
24	chr13:76445200-76450200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
25	chr13:76445200-76450400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr13:76445200-76451000	Weak transcription	Colon Smooth Muscle	Colon
27	chr13:76445400-76445800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr13:76445400-76445800	Enhancers	Fetal Brain Male	brain
29	chr13:76445400-76445800	Enhancers	Fetal Lung	lung
30	chr13:76445400-76449000	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr13:76445400-76449000	Weak transcription	Primary T cells from cord blood	blood
32	chr13:76445400-76449800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
33	chr13:76445400-76450400	Weak transcription	A549	lung
34	chr13:76445400-76454400	Weak transcription	Osteobl	bone
35	chr13:76445600-76449000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
36	chr13:76445600-76450400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr13:76445600-76450400	Weak transcription	Fetal Brain Female	brain
38	chr13:76445600-76453400	Weak transcription	Adipose Nuclei	Adipose
39	chr13:76445600-76453600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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