Variant report

Variant	rs2109236
Chromosome Location	chr13:50929231-50929232
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:50697643..50701953-chr13:50927459..50931609,5	MCF-7	breast:
2	chr13:50923658..50925189-chr13:50928081..50930384,2	MCF-7	breast:
3	chr13:50921012..50924496-chr13:50928221..50931667,4	MCF-7	breast:
4	chr13:50929110..50931942-chr13:50932169..50935113,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000231607	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs1149858	0.89[ASN][1000 genomes]
rs1326125	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2066696	0.85[ASN][1000 genomes]
rs2532966	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2532967	0.89[AMR][1000 genomes];0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2532969	0.85[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs2532970	0.83[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs2532973	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2580182	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2580183	0.84[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2740534	0.85[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs2740535	0.85[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2740538	0.89[AMR][1000 genomes];0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2740540	0.89[AMR][1000 genomes];0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2740541	0.93[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2762055	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2762061	0.87[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2762064	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2812212	0.89[ASN][1000 genomes]
rs4942914	0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs806312	0.85[EUR][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	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

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:50926600-50929400	Enhancers	NHDF-Ad	bronchial
2	chr13:50926600-50933000	Enhancers	Liver	Liver
3	chr13:50926600-50934800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr13:50927200-50930400	Enhancers	Fetal Thymus	thymus
5	chr13:50927400-50929400	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr13:50927600-50931400	Weak transcription	Left Ventricle	heart
7	chr13:50927600-50931400	Weak transcription	Psoas Muscle	Psoas
8	chr13:50927600-50931400	Weak transcription	HepG2	liver
9	chr13:50927800-50931200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr13:50928000-50929400	Enhancers	Thymus	Thymus
11	chr13:50928000-50929600	Enhancers	Dnd41	blood
12	chr13:50928400-50929400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
13	chr13:50928400-50931400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr13:50928400-50931600	Weak transcription	Aorta	Aorta
15	chr13:50928400-50932400	Weak transcription	Primary monocytes fromperipheralblood	blood
16	chr13:50928600-50929400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr13:50928600-50931000	Weak transcription	Fetal Lung	lung
18	chr13:50928600-50931000	Weak transcription	Fetal Muscle Leg	muscle
19	chr13:50928600-50931200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr13:50928600-50931200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr13:50928600-50931200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr13:50928600-50931200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr13:50928600-50931200	Weak transcription	Colon Smooth Muscle	Colon
24	chr13:50928600-50931200	Weak transcription	Fetal Kidney	kidney
25	chr13:50928600-50931200	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr13:50928600-50931200	Weak transcription	Stomach Smooth Muscle	stomach
27	chr13:50928600-50931200	Weak transcription	NH-A	brain
28	chr13:50928600-50931200	Weak transcription	Osteobl	bone
29	chr13:50928600-50931400	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr13:50928600-50931400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr13:50928600-50931400	Weak transcription	Duodenum Smooth Muscle	Duodenum
32	chr13:50928600-50931400	Weak transcription	HSMM	muscle
33	chr13:50928600-50932400	Weak transcription	Monocytes-CD14+_RO01746	blood
34	chr13:50928800-50929400	Enhancers	Rectal Mucosa Donor 31	rectum
35	chr13:50928800-50930200	Enhancers	Primary T helper cells fromperipheralblood	blood
36	chr13:50928800-50931200	Weak transcription	NHLF	lung
37	chr13:50928800-50931600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr13:50929000-50929400	Enhancers	Pancreas	Pancrea
39	chr13:50929000-50929600	Enhancers	Primary B cells from cord blood	blood
40	chr13:50929000-50930400	Enhancers	Primary B cells from peripheral blood	blood
41	chr13:50929000-50931600	Weak transcription	HSMMtube	muscle
42	chr13:50929200-50929400	Enhancers	Primary T cells fromperipheralblood	blood
43	chr13:50929200-50929400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
44	chr13:50929200-50929400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
45	chr13:50929200-50929400	Flanking Active TSS	Duodenum Mucosa	Duodenum
46	chr13:50929200-50929600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
47	chr13:50929200-50930000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
48	chr13:50929200-50930200	Enhancers	Primary T helper cells PMA-I stimulated	--
49	chr13:50929200-50930400	Enhancers	GM12878-XiMat	blood
50	chr13:50929200-50934200	Weak transcription	Lung	lung

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