Variant report

Variant	rs36219435
Chromosome Location	chr14:20921645-20921646
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:20823563..20825778-chr14:20921246..20923289,2	K562	blood:
2	chr14:20859803..20863356-chr14:20921399..20924080,5	MCF-7	breast:
3	chr14:20876151..20895555-chr14:20920787..20932243,67	MCF-7	breast:
4	chr14:20807684..20813516-chr14:20919958..20928823,14	K562	blood:
5	chr14:20879246..20888994-chr14:20918445..20930702,42	MCF-7	breast:
6	chr14:20916584..20919855-chr14:20919945..20922892,5	K562	blood:
7	chr14:20799471..20803739-chr14:20921169..20925160,5	MCF-7	breast:
8	chr14:20808270..20815666-chr14:20919802..20926735,19	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000259001	Chromatin interaction
ENSG00000100814	Chromatin interaction
ENSG00000129566	Chromatin interaction
ENSG00000200225	Chromatin interaction
ENSG00000258515	Chromatin interaction
ENSG00000129484	Chromatin interaction
ENSG00000254846	Chromatin interaction
ENSG00000092094	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10129630	1.00[EUR][1000 genomes]
rs10133099	1.00[AMR][1000 genomes]
rs10142443	1.00[AMR][1000 genomes]
rs17111188	1.00[EUR][1000 genomes]
rs17113250	1.00[EUR][1000 genomes]
rs2163088	1.00[EUR][1000 genomes]
rs2229100	1.00[EUR][1000 genomes]
rs28498996	1.00[EUR][1000 genomes]
rs3093919	1.00[EUR][1000 genomes]
rs3093929	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56713402	1.00[AMR][1000 genomes]
rs61351655	1.00[EUR][1000 genomes]
rs61455440	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7160712	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73575070	1.00[EUR][1000 genomes]
rs73583407	1.00[EUR][1000 genomes]
rs73583490	1.00[EUR][1000 genomes]
rs73587007	1.00[EUR][1000 genomes]
rs73587012	1.00[EUR][1000 genomes]
rs73587064	1.00[AMR][1000 genomes]
rs73587074	1.00[AMR][1000 genomes]
rs73587075	1.00[AMR][1000 genomes]
rs73587082	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74033863	1.00[EUR][1000 genomes]
rs74033868	1.00[EUR][1000 genomes]
rs8005210	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8006448	1.00[EUR][1000 genomes]
rs8013332	1.00[EUR][1000 genomes]
rs8016586	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1043923	chr14:20338742-21336425	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	203 gene(s)	inside rSNPs	diseases
2	nsv541970	chr14:20338742-21336425	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	203 gene(s)	inside rSNPs	diseases
3	esv21015	chr14:20800765-21257878	Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	173 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:20911000-20922200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr14:20911600-20922200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr14:20916600-20922400	Weak transcription	Stomach Mucosa	stomach
4	chr14:20917800-20922000	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr14:20918800-20922400	Weak transcription	Gastric	stomach
6	chr14:20920400-20921800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr14:20920400-20921800	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr14:20920400-20922400	Weak transcription	HSMMtube	muscle
9	chr14:20920600-20921800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr14:20920600-20921800	Weak transcription	Aorta	Aorta
11	chr14:20920600-20921800	Weak transcription	Right Ventricle	heart
12	chr14:20920600-20921800	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr14:20920600-20921800	Weak transcription	HMEC	breast
14	chr14:20920600-20921800	Weak transcription	NHEK	skin
15	chr14:20920600-20921800	Weak transcription	NHLF	lung
16	chr14:20920600-20922000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr14:20920600-20922000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr14:20920600-20922000	Weak transcription	Rectal Smooth Muscle	rectum
19	chr14:20920600-20922200	Weak transcription	Fetal Kidney	kidney
20	chr14:20920600-20922200	Weak transcription	NHDF-Ad	bronchial
21	chr14:20920600-20922400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr14:20920600-20922400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr14:20920600-20922400	Weak transcription	Esophagus	oesophagus
24	chr14:20920600-20922400	Weak transcription	Ovary	ovary
25	chr14:20920600-20922400	Weak transcription	Small Intestine	intestine
26	chr14:20920600-20922600	Weak transcription	Lung	lung
27	chr14:20920800-20921800	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr14:20920800-20921800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr14:20920800-20921800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr14:20920800-20921800	Weak transcription	Brain Angular Gyrus	brain
31	chr14:20920800-20921800	Weak transcription	Brain Germinal Matrix	brain
32	chr14:20920800-20921800	Weak transcription	Colon Smooth Muscle	Colon
33	chr14:20920800-20921800	Weak transcription	Fetal Lung	lung
34	chr14:20920800-20921800	Weak transcription	A549	lung
35	chr14:20920800-20921800	Weak transcription	GM12878-XiMat	blood
36	chr14:20920800-20921800	Weak transcription	HSMM	muscle
37	chr14:20920800-20922000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr14:20920800-20922000	Weak transcription	H1 Cell Line	embryonic stem cell
39	chr14:20920800-20922200	Weak transcription	HUES6 Cell Line	embryonic stem cell
40	chr14:20920800-20922200	Weak transcription	NH-A	brain
41	chr14:20920800-20922400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr14:20920800-20922400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr14:20920800-20922400	Weak transcription	Brain Substantia Nigra	brain
44	chr14:20921000-20921800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
45	chr14:20921000-20921800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr14:20921000-20921800	Enhancers	Psoas Muscle	Psoas
47	chr14:20921000-20921800	Enhancers	Skeletal Muscle Female	skeletal muscle
48	chr14:20921000-20921800	Weak transcription	Thymus	Thymus
49	chr14:20921000-20921800	Enhancers	Dnd41	blood
50	chr14:20921000-20922000	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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