Variant report

Variant	rs4903569
Chromosome Location	chr14:77777454-77777455
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:77766958..77769035-chr14:77775530..77778512,2	K562	blood:

Variant related genes	Relation type
ENSG00000009830	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10138030	0.80[ASN][1000 genomes]
rs11624859	0.81[ASN][1000 genomes]
rs11626281	0.82[ASN][1000 genomes]
rs11627257	0.81[ASN][1000 genomes]
rs12431465	0.89[ASN][1000 genomes]
rs12437115	0.81[ASN][1000 genomes]
rs17105672	0.81[ASN][1000 genomes]
rs2042045	0.86[ASN][1000 genomes]
rs2111699	0.86[ASN][1000 genomes]
rs2193594	0.85[ASN][1000 genomes]
rs2270421	0.85[ASN][1000 genomes]
rs2287387	0.88[ASN][1000 genomes]
rs2287388	0.81[ASN][1000 genomes]
rs2287392	0.81[ASN][1000 genomes]
rs2287395	0.81[ASN][1000 genomes]
rs2363641	0.91[ASN][1000 genomes]
rs2363642	0.85[ASN][1000 genomes]
rs2363643	0.85[ASN][1000 genomes]
rs28374503	0.86[ASN][1000 genomes]
rs2885854	0.91[ASN][1000 genomes]
rs35149989	0.81[ASN][1000 genomes]
rs3815626	0.91[ASN][1000 genomes]
rs4899650	0.98[ASN][1000 genomes]
rs4903567	0.88[ASN][1000 genomes]
rs4903568	0.87[ASN][1000 genomes]
rs4903570	0.86[ASN][1000 genomes]
rs59630055	0.85[ASN][1000 genomes]
rs61990299	0.81[ASN][1000 genomes]
rs6574367	0.91[ASN][1000 genomes]
rs6574368	0.91[ASN][1000 genomes]
rs67873774	0.81[ASN][1000 genomes]
rs7142812	0.86[ASN][1000 genomes]
rs7160188	0.85[ASN][1000 genomes]
rs7160195	0.91[ASN][1000 genomes]
rs7975	0.83[ASN][1000 genomes]
rs8007615	0.91[ASN][1000 genomes]
rs8008449	0.85[ASN][1000 genomes]
rs8016187	0.84[ASN][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	nsv431017	chr14:76938089-77854647	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	107 gene(s)	inside rSNPs	diseases
2	nsv902105	chr14:77764884-77801431	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
3	nsv902106	chr14:77767978-77801431	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:77742400-77780200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr14:77751400-77786200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
3	chr14:77752600-77779200	Weak transcription	Fetal Heart	heart
4	chr14:77766400-77779200	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr14:77767800-77780400	Weak transcription	Colonic Mucosa	Colon
6	chr14:77768000-77780600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr14:77768000-77780600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr14:77768800-77780400	Weak transcription	Right Ventricle	heart
9	chr14:77770000-77780400	Weak transcription	Esophagus	oesophagus
10	chr14:77770200-77779200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr14:77770800-77785800	Weak transcription	K562	blood
12	chr14:77771200-77780800	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr14:77771600-77777600	Weak transcription	Hela-S3	cervix
14	chr14:77771600-77779600	Weak transcription	Fetal Kidney	kidney
15	chr14:77772000-77780400	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr14:77772400-77780400	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr14:77772400-77780400	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr14:77772400-77780600	Weak transcription	Duodenum Mucosa	Duodenum
19	chr14:77772600-77779200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr14:77772600-77780600	Weak transcription	Pancreas	Pancrea
21	chr14:77772600-77781000	Weak transcription	Lung	lung
22	chr14:77772600-77781400	Weak transcription	Gastric	stomach
23	chr14:77772600-77782200	Weak transcription	Primary T cells fromperipheralblood	blood
24	chr14:77772600-77783800	Weak transcription	Dnd41	blood
25	chr14:77772600-77785800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr14:77772600-77786400	Weak transcription	Aorta	Aorta
27	chr14:77772800-77780000	Weak transcription	Stomach Smooth Muscle	stomach
28	chr14:77772800-77780800	Weak transcription	Left Ventricle	heart
29	chr14:77772800-77782400	Weak transcription	Liver	Liver
30	chr14:77772800-77785800	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr14:77773200-77779400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr14:77773800-77779200	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr14:77773800-77786800	Weak transcription	Small Intestine	intestine
34	chr14:77774000-77777600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr14:77774000-77777800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr14:77774000-77777800	Weak transcription	NHEK	skin
37	chr14:77774000-77779000	Weak transcription	HUES6 Cell Line	embryonic stem cell
38	chr14:77774000-77779400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr14:77774000-77779400	Weak transcription	H9 Cell Line	embryonic stem cell
40	chr14:77774000-77779400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
41	chr14:77774000-77779600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr14:77774000-77779600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr14:77774000-77779800	Weak transcription	Ovary	ovary
44	chr14:77774000-77780200	Weak transcription	Adipose Nuclei	Adipose
45	chr14:77774000-77780400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr14:77774000-77780400	Weak transcription	Fetal Lung	lung
47	chr14:77774000-77780400	Weak transcription	Osteobl	bone
48	chr14:77774000-77783400	Weak transcription	Stomach Mucosa	stomach
49	chr14:77774200-77777600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr14:77774200-77777600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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