Variant report

Variant	rs74049670
Chromosome Location	chr14:55234244-55234245
allele	G/T
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	chr14:55220923..55225208-chr14:55233261..55241446,8	K562	blood:
2	chr14:55227116..55230514-chr14:55233317..55236938,4	K562	blood:
3	chr14:55031111..55034291-chr14:55232993..55236845,3	K562	blood:
4	chr14:55228186..55229935-chr14:55233317..55234898,2	K562	blood:
5	chr14:55039146..55042009-chr14:55234061..55236151,2	K562	blood:
6	chr14:55232734..55234959-chr14:55282570..55284583,2	K562	blood:
7	chr14:55233041..55235092-chr14:55238068..55240119,2	MCF-7	breast:
8	chr14:55223755..55226609-chr14:55232241..55234966,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000020577	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs1951437	0.85[EUR][1000 genomes]
rs1951438	0.85[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530042	chr14:55208170-55386966	Enhancers Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 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	chr14:55165800-55239200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr14:55202800-55239800	Weak transcription	Brain Angular Gyrus	brain
3	chr14:55214800-55237000	Strong transcription	Liver	Liver
4	chr14:55216800-55239800	Weak transcription	Duodenum Mucosa	Duodenum
5	chr14:55217800-55239600	Weak transcription	Fetal Lung	lung
6	chr14:55218200-55236200	Strong transcription	Stomach Smooth Muscle	stomach
7	chr14:55219200-55237000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr14:55219600-55239200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr14:55220400-55237800	Strong transcription	HepG2	liver
10	chr14:55220600-55237400	Strong transcription	NHLF	lung
11	chr14:55220600-55240200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr14:55222400-55240200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr14:55223600-55236000	Strong transcription	Fetal Stomach	stomach
14	chr14:55224600-55239000	Weak transcription	Primary T helper cells PMA-I stimulated	--
15	chr14:55224800-55235400	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr14:55224800-55237000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr14:55225000-55236800	Weak transcription	Psoas Muscle	Psoas
18	chr14:55225200-55239800	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr14:55225200-55240200	Weak transcription	Esophagus	oesophagus
20	chr14:55225400-55235600	Strong transcription	NHEK	skin
21	chr14:55225800-55236800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr14:55225800-55238800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr14:55226000-55237200	Strong transcription	Cortex derived primary cultured neurospheres	brain
24	chr14:55226000-55239000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr14:55226200-55237400	Strong transcription	Adipose Nuclei	Adipose
26	chr14:55226400-55238800	Weak transcription	A549	lung
27	chr14:55226400-55239200	Weak transcription	HUES48 Cell Line	embryonic stem cell
28	chr14:55226600-55235600	Strong transcription	Lung	lung
29	chr14:55227400-55236000	Strong transcription	Colon Smooth Muscle	Colon
30	chr14:55228200-55239800	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr14:55228600-55236000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr14:55228800-55239200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
33	chr14:55229000-55240200	Weak transcription	H1 Cell Line	embryonic stem cell
34	chr14:55229400-55234400	Strong transcription	Skeletal Muscle Female	skeletal muscle
35	chr14:55229400-55238400	Strong transcription	HSMM	muscle
36	chr14:55229800-55237800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr14:55229800-55238400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr14:55229800-55239000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr14:55230200-55234400	Strong transcription	Fetal Intestine Large	intestine
40	chr14:55230200-55235000	Strong transcription	Aorta	Aorta
41	chr14:55230200-55235200	Strong transcription	NHDF-Ad	bronchial
42	chr14:55230200-55236200	Strong transcription	HSMMtube	muscle
43	chr14:55230400-55234400	Strong transcription	Osteobl	bone
44	chr14:55230400-55235400	Strong transcription	Fetal Intestine Small	intestine
45	chr14:55230600-55234800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr14:55230600-55236600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr14:55230800-55234400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr14:55230800-55235200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr14:55231000-55235400	Strong transcription	Brain Anterior Caudate	brain
50	chr14:55231000-55235400	Strong transcription	Placenta Amnion	Placenta Amnion

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