Variant report

Variant	rs4902930
Chromosome Location	chr14:71801417-71801418
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	STAT3	chr14:71801334-71801534	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:71801351..71803651-chr14:71803706..71805302,3	K562	blood:
2	chr14:71798952..71801430-chr14:71804275..71806648,2	MCF-7	breast:
3	chr14:71791876..71795993-chr14:71799711..71802625,3	MCF-7	breast:
4	chr14:71800518..71803651-chr14:71803706..71805417,3	K562	blood:
5	chr14:71789768..71791635-chr14:71800055..71801739,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000259079	TF binding region

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs17106801	1.00[AMR][1000 genomes]
rs4899395	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4902932	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4902934	0.90[YRI][hapmap];1.00[AMR][1000 genomes]
rs57912772	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58286010	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58376573	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59153212	1.00[AMR][1000 genomes]
rs59852557	0.83[AFR][1000 genomes]
rs60347165	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60597274	1.00[AMR][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	nsv832827	chr14:71676178-71833519	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
2	esv1831401	chr14:71786411-71845264	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:71788600-71811200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr14:71788600-71817000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr14:71789400-71802200	Weak transcription	Fetal Intestine Large	intestine
4	chr14:71789800-71820000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr14:71791800-71806400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr14:71792000-71801800	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr14:71792200-71819400	Weak transcription	NHEK	skin
8	chr14:71792400-71811800	Weak transcription	Fetal Kidney	kidney
9	chr14:71792800-71803600	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr14:71792800-71806600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr14:71792800-71811800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr14:71792800-71813000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr14:71792800-71820000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr14:71792800-71820000	Weak transcription	Pancreas	Pancrea
15	chr14:71793000-71810400	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr14:71794800-71816400	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr14:71795000-71811400	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr14:71795000-71821800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr14:71795200-71802000	Weak transcription	HepG2	liver
20	chr14:71795200-71804200	Weak transcription	HMEC	breast
21	chr14:71795200-71811400	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr14:71795200-71812800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr14:71795200-71819600	Weak transcription	HSMM	muscle
24	chr14:71795200-71820000	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr14:71795200-71821600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr14:71795400-71803000	Weak transcription	Duodenum Mucosa	Duodenum
27	chr14:71795400-71804600	Weak transcription	Primary neutrophils fromperipheralblood	blood
28	chr14:71795400-71806200	Weak transcription	Primary hematopoietic stem cells	blood
29	chr14:71795400-71806400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr14:71795400-71806400	Weak transcription	Osteobl	bone
31	chr14:71795400-71813000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr14:71795600-71806400	Weak transcription	Fetal Heart	heart
33	chr14:71795800-71801800	Weak transcription	Liver	Liver
34	chr14:71795800-71821400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr14:71797000-71804400	Weak transcription	Monocytes-CD14+_RO01746	blood
36	chr14:71797200-71801800	Weak transcription	Fetal Intestine Small	intestine
37	chr14:71797200-71821800	Weak transcription	HSMMtube	muscle
38	chr14:71797600-71803600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr14:71797600-71821200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr14:71798000-71804400	Weak transcription	Cortex derived primary cultured neurospheres	brain
41	chr14:71798600-71802000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
42	chr14:71798600-71803200	Weak transcription	Primary monocytes fromperipheralblood	blood
43	chr14:71798600-71803800	Weak transcription	Small Intestine	intestine
44	chr14:71798600-71808200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
45	chr14:71798800-71802800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr14:71798800-71804600	Weak transcription	Dnd41	blood
47	chr14:71798800-71806400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
48	chr14:71798800-71818000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr14:71799000-71802200	Weak transcription	Stomach Mucosa	stomach
50	chr14:71799000-71803200	Weak transcription	Pancreatic Islets	Pancreatic Islet

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