Variant report

Variant	rs4769809
Chromosome Location	chr13:30718059-30718060
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:30697642..30699768-chr13:30715433..30718388,2	MCF-7	breast:
2	chr13:30710616..30714136-chr13:30716937..30719066,3	K562	blood:
3	chr13:30716922..30719833-chr13:30752505..30754476,2	MCF-7	breast:

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs2892536	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1040215	chr13:30621351-30741022	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv541745	chr13:30621351-30741022	Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv832572	chr13:30650005-30835256	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
4	nsv981	chr13:30703159-30739838	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	esv1847946	chr13:30707385-30731192	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:30714600-30721800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
2	chr13:30715000-30734000	Enhancers	Primary T cells fromperipheralblood	blood
3	chr13:30715200-30718400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr13:30715200-30727600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
5	chr13:30715400-30718800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
6	chr13:30715400-30720000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
7	chr13:30715400-30727200	Enhancers	Primary T helper cells PMA-I stimulated	--
8	chr13:30715400-30727200	Enhancers	Primary T helper cells fromperipheralblood	blood
9	chr13:30715600-30718200	Enhancers	Primary T cells from cord blood	blood
10	chr13:30715600-30719000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr13:30715600-30720000	Enhancers	Primary T helper naive cells from peripheral blood	blood
12	chr13:30715600-30720000	Enhancers	GM12878-XiMat	blood
13	chr13:30715800-30718200	Enhancers	Placenta	Placenta
14	chr13:30715800-30718400	Enhancers	Adipose Nuclei	Adipose
15	chr13:30715800-30718400	Enhancers	NHDF-Ad	bronchial
16	chr13:30716000-30718200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr13:30716000-30718400	Enhancers	HUVEC	blood vessel
18	chr13:30716000-30718600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr13:30716400-30718600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr13:30716800-30720200	Weak transcription	Thymus	Thymus
21	chr13:30717000-30718600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr13:30717000-30720400	Weak transcription	Dnd41	blood
23	chr13:30717200-30718200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
24	chr13:30717200-30718400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr13:30717200-30718400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
26	chr13:30717400-30718200	Enhancers	Stomach Smooth Muscle	stomach
27	chr13:30717400-30718200	Flanking Active TSS	NH-A	brain
28	chr13:30717400-30718400	Enhancers	Hela-S3	cervix
29	chr13:30717400-30718400	Enhancers	HMEC	breast
30	chr13:30717400-30720000	Weak transcription	Fetal Thymus	thymus
31	chr13:30717600-30718200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr13:30717600-30718200	Enhancers	NHEK	skin
33	chr13:30717600-30718400	Enhancers	Breast Myoepithelial Primary Cells	Breast
34	chr13:30717600-30718400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr13:30717600-30718400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr13:30717600-30719800	Weak transcription	Fetal Muscle Trunk	muscle
37	chr13:30717600-30720400	Weak transcription	Spleen	Spleen
38	chr13:30717800-30718800	ZNF genes & repeats	Primary Natural Killer cells fromperipheralblood	blood
39	chr13:30717800-30722800	Weak transcription	Duodenum Mucosa	Duodenum
40	chr13:30717800-30723000	Weak transcription	Colonic Mucosa	Colon
41	chr13:30718000-30718200	Enhancers	Stomach Mucosa	stomach
42	chr13:30718000-30718200	Flanking Active TSS	HSMMtube	muscle
43	chr13:30718000-30718200	Flanking Active TSS	NHLF	lung
44	chr13:30718000-30718200	Flanking Active TSS	Osteobl	bone
45	chr13:30718000-30718400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr13:30718000-30718400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr13:30718000-30718400	Enhancers	HSMM	muscle
48	chr13:30718000-30718600	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr13:30718000-30718600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr13:30718000-30720000	Enhancers	Primary T killer memory cells from peripheral blood	blood

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