Variant report

Variant	rs17253584
Chromosome Location	chr14:55313331-55313332
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	chr14:55313049..55314990-chr14:55368415..55371354,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000131979	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs13329058	0.86[ASN][1000 genomes]
rs17127944	1.00[CHB][hapmap]
rs17127987	1.00[CHB][hapmap];1.00[YRI][hapmap];0.86[ASN][1000 genomes]
rs17127998	0.86[ASN][1000 genomes]
rs17128008	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs17128017	1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs17253577	1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs17253591	0.85[CEU][hapmap]
rs17671005	0.85[CEU][hapmap];0.86[AMR][1000 genomes]
rs17671485	1.00[CEU][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17738863	1.00[CEU][hapmap];0.99[EUR][1000 genomes]
rs17738966	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17739146	1.00[CEU][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2004633	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2183080	1.00[CHB][hapmap]
rs41298434	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs45454691	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55786710	1.00[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs56924179	0.94[EUR][1000 genomes]
rs60407360	1.00[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs60481635	0.96[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs7141175	0.84[CEU][hapmap]
rs7147200	0.86[ASN][1000 genomes]
rs7148831	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7153186	0.86[ASN][1000 genomes]
rs7153566	0.82[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs73278756	0.86[ASN][1000 genomes]
rs73278762	0.86[ASN][1000 genomes]
rs73278771	1.00[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs73278772	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73278793	0.96[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs7493025	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs9323271	1.00[CHB][hapmap]

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:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:55303400-55337000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr14:55305000-55320400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr14:55305200-55337200	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr14:55305400-55314000	Weak transcription	Primary hematopoietic stem cells	blood
5	chr14:55305400-55325800	Weak transcription	Spleen	Spleen
6	chr14:55305800-55313600	Strong transcription	Monocytes-CD14+_RO01746	blood
7	chr14:55305800-55321000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr14:55305800-55326400	Weak transcription	Fetal Thymus	thymus
9	chr14:55306000-55314200	Strong transcription	Primary monocytes fromperipheralblood	blood
10	chr14:55306200-55320800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
11	chr14:55306200-55337000	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr14:55306400-55336800	Weak transcription	Dnd41	blood
13	chr14:55306600-55321000	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr14:55306600-55336600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr14:55306800-55327400	Weak transcription	Pancreas	Pancrea
16	chr14:55306800-55337000	Weak transcription	Brain Anterior Caudate	brain
17	chr14:55307000-55313400	Strong transcription	Primary T helper cells PMA-I stimulated	--
18	chr14:55308000-55336600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
19	chr14:55308200-55332400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr14:55308400-55320600	Weak transcription	Primary B cells from cord blood	blood
21	chr14:55308400-55330600	Weak transcription	Rectal Mucosa Donor 29	rectum
22	chr14:55308600-55325600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr14:55308600-55325600	Weak transcription	Lung	lung
24	chr14:55309800-55319000	Weak transcription	GM12878-XiMat	blood
25	chr14:55309800-55320800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr14:55309800-55320800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr14:55309800-55321000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
28	chr14:55309800-55325600	Weak transcription	Primary neutrophils fromperipheralblood	blood
29	chr14:55309800-55325800	Weak transcription	Thymus	Thymus
30	chr14:55310200-55320200	Weak transcription	Primary B cells from peripheral blood	blood
31	chr14:55311200-55325400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
32	chr14:55311600-55314200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr14:55311800-55319200	Weak transcription	HepG2	liver
34	chr14:55311800-55331200	Weak transcription	Hela-S3	cervix
35	chr14:55311800-55337000	Weak transcription	Fetal Intestine Large	intestine
36	chr14:55312200-55313600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
37	chr14:55312400-55313400	Genic enhancers	Liver	Liver
38	chr14:55312800-55324800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr14:55313000-55320400	Weak transcription	Stomach Mucosa	stomach
40	chr14:55313000-55322800	Weak transcription	Primary T cells fromperipheralblood	blood
41	chr14:55313000-55325600	Weak transcription	Duodenum Mucosa	Duodenum
42	chr14:55313000-55325800	Weak transcription	Gastric	stomach
43	chr14:55313200-55315800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr14:55313200-55320600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
45	chr14:55313200-55320800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
46	chr14:55313200-55321000	Weak transcription	Primary T helper cells fromperipheralblood	blood
47	chr14:55313200-55322800	Weak transcription	Fetal Intestine Small	intestine
48	chr14:55313200-55324200	Weak transcription	Primary T cells from cord blood	blood

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