Variant report

Variant	rs8022592
Chromosome Location	chr14:70254101-70254102
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:70252150..70254592-chr14:70256413..70257995,2	K562	blood:
2	chr14:70253162..70255324-chr14:70257744..70259323,3	MCF-7	breast:
3	chr14:70253256..70256439-chr14:70262024..70266154,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000100652	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs11848277	1.00[EUR][1000 genomes]
rs1275843	1.00[TSI][hapmap]
rs1295832	1.00[TSI][hapmap]
rs1296571	1.00[TSI][hapmap]
rs2069109	1.00[EUR][1000 genomes]
rs28456261	1.00[EUR][1000 genomes]
rs28468655	1.00[EUR][1000 genomes]
rs28767840	1.00[EUR][1000 genomes]
rs56723492	1.00[EUR][1000 genomes]
rs56837831	1.00[EUR][1000 genomes]
rs57709257	1.00[EUR][1000 genomes]
rs60048839	1.00[EUR][1000 genomes]
rs61059545	1.00[EUR][1000 genomes]
rs61130025	1.00[EUR][1000 genomes]
rs61226888	1.00[EUR][1000 genomes]
rs7148591	1.00[EUR][1000 genomes]
rs7150074	1.00[EUR][1000 genomes]
rs73281568	1.00[EUR][1000 genomes]
rs74060658	1.00[EUR][1000 genomes]
rs74060659	1.00[EUR][1000 genomes]
rs74060660	1.00[EUR][1000 genomes]
rs74060661	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv456336	chr14:70081956-70574149	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
2	nsv565007	chr14:70081956-70574149	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:70238200-70263600	Weak transcription	Stomach Mucosa	stomach
2	chr14:70238400-70254600	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr14:70241000-70256200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr14:70245400-70255000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr14:70245400-70256000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr14:70245600-70254600	Weak transcription	Fetal Kidney	kidney
7	chr14:70245600-70255000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr14:70245600-70257400	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr14:70245800-70254200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr14:70245800-70256200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr14:70246000-70254800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr14:70246200-70254400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr14:70246200-70255600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr14:70246200-70258400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr14:70246200-70259800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr14:70246400-70261800	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr14:70246400-70264000	Weak transcription	Fetal Intestine Small	intestine
18	chr14:70246600-70256800	Weak transcription	Primary T cells fromperipheralblood	blood
19	chr14:70246600-70256800	Weak transcription	HSMMtube	muscle
20	chr14:70247000-70254200	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr14:70247000-70264600	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr14:70247400-70254800	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr14:70247800-70254600	Weak transcription	Rectal Smooth Muscle	rectum
24	chr14:70248200-70255600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
25	chr14:70248200-70255600	Weak transcription	HMEC	breast
26	chr14:70248200-70256200	Weak transcription	Fetal Muscle Trunk	muscle
27	chr14:70248200-70263000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr14:70248200-70271600	Weak transcription	Psoas Muscle	Psoas
29	chr14:70248400-70254400	Weak transcription	Fetal Lung	lung
30	chr14:70248400-70254800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr14:70248400-70254800	Weak transcription	Primary T helper cells PMA-I stimulated	--
32	chr14:70248400-70255000	Weak transcription	Ovary	ovary
33	chr14:70248400-70256200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr14:70248400-70256200	Weak transcription	Right Atrium	heart
35	chr14:70248400-70264400	Weak transcription	Esophagus	oesophagus
36	chr14:70248600-70255400	Weak transcription	Fetal Brain Female	brain
37	chr14:70248600-70256200	Weak transcription	Fetal Intestine Large	intestine
38	chr14:70248600-70263600	Weak transcription	Right Ventricle	heart
39	chr14:70248800-70254800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr14:70248800-70255000	Weak transcription	Brain Substantia Nigra	brain
41	chr14:70248800-70256200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr14:70248800-70256400	Weak transcription	Brain Germinal Matrix	brain
43	chr14:70248800-70264000	Weak transcription	Rectal Mucosa Donor 29	rectum
44	chr14:70249000-70254800	Weak transcription	Brain Angular Gyrus	brain
45	chr14:70249000-70254800	Weak transcription	A549	lung
46	chr14:70249000-70264000	Weak transcription	Rectal Mucosa Donor 31	rectum
47	chr14:70251200-70254200	Strong transcription	Spleen	Spleen
48	chr14:70251600-70254200	Strong transcription	Primary neutrophils fromperipheralblood	blood
49	chr14:70251600-70254200	Strong transcription	Skeletal Muscle Female	skeletal muscle
50	chr14:70251600-70255000	Genic enhancers	Liver	Liver

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