Variant report

Variant	rs2165774
Chromosome Location	chr13:76447232-76447233
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs12427729	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12428746	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs12430940	0.81[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs17065145	0.92[CEU][hapmap];0.84[CHB][hapmap];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2120060	0.84[CHB][hapmap];0.80[AMR][1000 genomes]
rs2296093	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3736858	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs3783025	0.80[AMR][1000 genomes]
rs3825439	0.83[CEU][hapmap];0.84[CHB][hapmap];0.80[AMR][1000 genomes]
rs41287008	0.81[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs4885357	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61959583	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9318380	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9530471	0.85[CEU][hapmap];0.84[CHB][hapmap];1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9544049	0.81[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs9544050	0.84[CHB][hapmap]
rs9544051	0.85[CEU][hapmap];0.84[CHB][hapmap];0.80[AMR][1000 genomes]
rs9544053	0.82[EUR][1000 genomes]
rs9544056	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9544059	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

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	chr13:76445000-76449400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr13:76445000-76449400	Weak transcription	Fetal Thymus	thymus
8	chr13:76445000-76449600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr13:76445000-76450200	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr13:76445000-76450200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr13:76445000-76450400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr13:76445000-76450400	Weak transcription	Fetal Intestine Small	intestine
13	chr13:76445000-76450400	Weak transcription	GM12878-XiMat	blood
14	chr13:76445000-76450600	Weak transcription	Stomach Smooth Muscle	stomach
15	chr13:76445000-76450800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr13:76445000-76451000	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr13:76445200-76447400	Weak transcription	HMEC	breast
18	chr13:76445200-76449800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
19	chr13:76445200-76450000	Weak transcription	Primary T helper cells PMA-I stimulated	--
20	chr13:76445200-76450200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
21	chr13:76445200-76450400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr13:76445200-76451000	Weak transcription	Colon Smooth Muscle	Colon
23	chr13:76445400-76449000	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr13:76445400-76449000	Weak transcription	Primary T cells from cord blood	blood
25	chr13:76445400-76449800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
26	chr13:76445400-76450400	Weak transcription	A549	lung
27	chr13:76445400-76454400	Weak transcription	Osteobl	bone
28	chr13:76445600-76449000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr13:76445600-76450400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr13:76445600-76450400	Weak transcription	Fetal Brain Female	brain
31	chr13:76445600-76453400	Weak transcription	Adipose Nuclei	Adipose
32	chr13:76445600-76453600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr13:76445800-76448800	Weak transcription	Fetal Lung	lung
34	chr13:76446000-76449800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
35	chr13:76446000-76450400	Weak transcription	Fetal Muscle Leg	muscle
36	chr13:76446800-76447800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr13:76446800-76449400	Weak transcription	Fetal Brain Male	brain
38	chr13:76447200-76448400	Enhancers	Monocytes-CD14+_RO01746	blood
39	chr13:76447200-76448800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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