Variant report

Variant	rs73278771
Chromosome Location	chr14:55305295-55305296
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:55300705..55303430-chr14:55305101..55307686,2	K562	blood:
2	chr14:55304408..55306842-chr14:55369413..55371033,2	MCF-7	breast:
3	chr14:55305231..55308673-chr14:55367563..55370969,7	MCF-7	breast:
4	chr14:55303907..55306505-chr14:55308047..55309664,2	K562	blood:

Variant related genes	Relation type
ENSG00000131979	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs13329058	1.00[ASN][1000 genomes]
rs17127987	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17127998	1.00[ASN][1000 genomes]
rs17128017	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17253577	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs17253584	1.00[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs2004633	1.00[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs35508671	1.00[AMR][1000 genomes]
rs45454691	1.00[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs55786710	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs58292420	0.83[ASN][1000 genomes]
rs60407360	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs60475452	1.00[AMR][1000 genomes]
rs60481635	0.96[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7147200	1.00[ASN][1000 genomes]
rs7153186	1.00[ASN][1000 genomes]
rs7153566	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73276810	0.83[ASN][1000 genomes]
rs73276819	0.83[ASN][1000 genomes]
rs73278756	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73278762	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73278772	1.00[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs73278793	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][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:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:55293800-55306400	Weak transcription	Aorta	Aorta
2	chr14:55299200-55308200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr14:55300400-55305800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr14:55301000-55305600	Enhancers	Liver	Liver
5	chr14:55301000-55305800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr14:55301000-55310000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr14:55301800-55306000	Enhancers	HepG2	liver
8	chr14:55301800-55306400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr14:55303200-55306600	Enhancers	Fetal Intestine Small	intestine
10	chr14:55303400-55337000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr14:55304000-55305600	Weak transcription	Primary T cells from cord blood	blood
12	chr14:55304000-55305800	Weak transcription	Monocytes-CD14+_RO01746	blood
13	chr14:55304000-55306800	Enhancers	Fetal Intestine Large	intestine
14	chr14:55304200-55305800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr14:55304200-55306400	Weak transcription	Primary T helper cells fromperipheralblood	blood
16	chr14:55304400-55306000	Weak transcription	Primary monocytes fromperipheralblood	blood
17	chr14:55304400-55306000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr14:55304400-55307200	Weak transcription	Primary T cells fromperipheralblood	blood
19	chr14:55304600-55307000	Weak transcription	Primary T helper cells PMA-I stimulated	--
20	chr14:55304800-55306600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr14:55304800-55308000	Weak transcription	Lung	lung
22	chr14:55304800-55309200	Weak transcription	Duodenum Mucosa	Duodenum
23	chr14:55305000-55306400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr14:55305000-55320400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
25	chr14:55305200-55307200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr14:55305200-55307600	Weak transcription	Primary B cells from cord blood	blood
27	chr14:55305200-55308000	Weak transcription	Esophagus	oesophagus
28	chr14:55305200-55308000	Weak transcription	Thymus	Thymus
29	chr14:55305200-55312200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
30	chr14:55305200-55337200	Weak transcription	Sigmoid Colon	Sigmoid Colon

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