Variant report

Variant	rs2765768
Chromosome Location	chr13:50810171-50810172
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:50801740..50804287-chr13:50809039..50811026,2	K562	blood:

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs2580188	0.91[CEU][hapmap];0.90[CHB][hapmap];0.89[JPT][hapmap];0.85[EUR][1000 genomes]
rs2703079	0.83[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2762059	0.81[CHB][hapmap];0.83[JPT][hapmap]
rs2812197	0.83[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs806319	0.80[JPT][hapmap]
rs806321	0.80[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1035151	chr13:50513535-51167850	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1254 gene(s)	inside rSNPs	diseases
2	esv2753964	chr13:50545399-51421199	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1256 gene(s)	inside rSNPs	diseases
3	esv2753492	chr13:50550081-51461720	Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1256 gene(s)	inside rSNPs	diseases
4	esv2752608	chr13:50550099-51054499	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1249 gene(s)	inside rSNPs	diseases
5	nsv832608	chr13:50678628-50888413	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
6	nsv900076	chr13:50710579-50912578	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv561631	chr13:50761619-50846748	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:50800400-50814400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr13:50804400-50818600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr13:50805000-50818600	Weak transcription	Psoas Muscle	Psoas
4	chr13:50805200-50810200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr13:50805200-50811200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr13:50805200-50815800	Weak transcription	Small Intestine	intestine
7	chr13:50808200-50810200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr13:50808400-50818800	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr13:50809400-50811000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
10	chr13:50809400-50811000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
11	chr13:50809600-50810400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr13:50809600-50810400	Active TSS	Duodenum Mucosa	Duodenum
13	chr13:50809600-50810600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr13:50809600-50811400	Active TSS	Primary T killer memory cells from peripheral blood	blood
15	chr13:50809600-50811600	Active TSS	Rectal Mucosa Donor 29	rectum
16	chr13:50809600-50812200	Enhancers	Primary B cells from peripheral blood	blood
17	chr13:50809800-50810200	Active TSS	Primary T helper cells fromperipheralblood	blood
18	chr13:50809800-50810200	Active TSS	Pancreatic Islets	Pancreatic Islet
19	chr13:50809800-50810200	Weak transcription	HepG2	liver
20	chr13:50809800-50810400	Active TSS	Primary T cells from cord blood	blood
21	chr13:50809800-50810400	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
22	chr13:50809800-50810400	Active TSS	Primary T helper naive cells from peripheral blood	blood
23	chr13:50809800-50810400	Active TSS	Primary T helper naive cells fromperipheralblood	blood
24	chr13:50809800-50810400	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
25	chr13:50809800-50811200	Active TSS	Primary T cells fromperipheralblood	blood
26	chr13:50809800-50811200	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
27	chr13:50809800-50811800	Flanking Active TSS	GM12878-XiMat	blood
28	chr13:50810000-50810200	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
29	chr13:50810000-50810200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
30	chr13:50810000-50810400	Enhancers	HUES64 Cell Line	embryonic stem cell
31	chr13:50810000-50810400	Active TSS	Primary T killer naive cells fromperipheralblood	blood
32	chr13:50810000-50810600	Enhancers	iPS-18 Cell Line	embryonic stem cell
33	chr13:50810000-50810600	Active TSS	Primary T regulatory cells fromperipheralblood	blood
34	chr13:50810000-50810600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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