Variant report

Variant	rs17128021
Chromosome Location	chr14:55320197-55320198
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:55318980..55321872-chr14:55325743..55328118,2	K562	blood:
2	chr14:55315509..55317878-chr14:55318793..55321643,2	MCF-7	breast:
3	chr14:55319568..55322164-chr14:55323468..55326255,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000252019	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10129528	0.87[ASW][hapmap];1.00[MEX][hapmap];1.00[AMR][1000 genomes]
rs10139369	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10143089	1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10144725	0.94[ASW][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17127989	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17127991	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17128008	1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs17128011	1.00[JPT][hapmap];0.95[YRI][hapmap];0.98[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17128028	1.00[MEX][hapmap]
rs17738863	1.00[CHD][hapmap];1.00[JPT][hapmap];0.91[ASN][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	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
2	nsv819735	chr14:55319809-55326052	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	n/a

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	chr14:55305400-55325800	Weak transcription	Spleen	Spleen
5	chr14:55305800-55321000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr14:55305800-55326400	Weak transcription	Fetal Thymus	thymus
7	chr14:55306200-55320800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr14:55306200-55337000	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr14:55306400-55336800	Weak transcription	Dnd41	blood
10	chr14:55306600-55321000	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr14:55306600-55336600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr14:55306800-55327400	Weak transcription	Pancreas	Pancrea
13	chr14:55306800-55337000	Weak transcription	Brain Anterior Caudate	brain
14	chr14:55308000-55336600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr14:55308200-55332400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr14:55308400-55320600	Weak transcription	Primary B cells from cord blood	blood
17	chr14:55308400-55330600	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr14:55308600-55325600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
19	chr14:55308600-55325600	Weak transcription	Lung	lung
20	chr14:55309800-55320800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr14:55309800-55320800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr14:55309800-55321000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
23	chr14:55309800-55325600	Weak transcription	Primary neutrophils fromperipheralblood	blood
24	chr14:55309800-55325800	Weak transcription	Thymus	Thymus
25	chr14:55310200-55320200	Weak transcription	Primary B cells from peripheral blood	blood
26	chr14:55311200-55325400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr14:55311800-55331200	Weak transcription	Hela-S3	cervix
28	chr14:55311800-55337000	Weak transcription	Fetal Intestine Large	intestine
29	chr14:55312800-55324800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr14:55313000-55320400	Weak transcription	Stomach Mucosa	stomach
31	chr14:55313000-55322800	Weak transcription	Primary T cells fromperipheralblood	blood
32	chr14:55313000-55325600	Weak transcription	Duodenum Mucosa	Duodenum
33	chr14:55313000-55325800	Weak transcription	Gastric	stomach
34	chr14:55313200-55320600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
35	chr14:55313200-55320800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr14:55313200-55321000	Weak transcription	Primary T helper cells fromperipheralblood	blood
37	chr14:55313200-55322800	Weak transcription	Fetal Intestine Small	intestine
38	chr14:55313200-55324200	Weak transcription	Primary T cells from cord blood	blood
39	chr14:55313400-55320800	Weak transcription	Primary T helper cells PMA-I stimulated	--
40	chr14:55313600-55321000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
41	chr14:55314200-55322600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr14:55316600-55320600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr14:55319000-55320400	Strong transcription	Monocytes-CD14+_RO01746	blood
44	chr14:55319400-55320600	Weak transcription	GM12878-XiMat	blood
45	chr14:55319600-55320200	Enhancers	Liver	Liver
46	chr14:55319600-55324000	Weak transcription	Primary monocytes fromperipheralblood	blood
47	chr14:55319600-55324800	Weak transcription	HepG2	liver
48	chr14:55320000-55320400	Weak transcription	H1 Cell Line	embryonic stem cell

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