Variant report

Variant	rs57764801
Chromosome Location	chr5:14287706-14287707
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	EP300	chr5:14286798-14287757	GM12878	blood:	n/a	n/a
2	EBF1	chr5:14286309-14287781	GM12878	blood:	n/a	chr5:14287389-14287399 chr5:14287390-14287399 chr5:14286611-14286620
3	MTA3	chr5:14286772-14287721	GM12878	blood:	n/a	n/a
4	MXI1	chr5:14286696-14287707	GM12878	blood:	n/a	n/a
5	SPI1	chr5:14286887-14287829	GM12878	blood:	n/a	chr5:14287383-14287392
6	CHD2	chr5:14286819-14287713	GM12878	blood:	n/a	n/a
7	STAT3	chr5:14287063-14287771	GM12878	blood:	n/a	chr5:14287381-14287392

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:14287111..14289628-chr5:14293416..14296337,2	MCF-7	breast:

Variant related genes	Relation type
TRIO	TF binding region

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs16903350	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs16903376	0.98[AFR][1000 genomes]
rs16903399	0.85[AFR][1000 genomes]
rs2015269	0.85[AFR][1000 genomes]
rs55750919	0.87[AFR][1000 genomes]
rs58716074	0.94[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs59499572	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs60077210	0.85[AFR][1000 genomes]
rs60568524	0.85[AFR][1000 genomes]
rs61509800	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs6868596	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs73748806	0.87[AFR][1000 genomes]
rs73751311	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs73751318	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs73751327	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs73751335	0.94[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs73751336	0.94[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs73751338	0.94[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs73751339	0.94[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs73751340	0.94[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs7703674	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs7705426	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs7713114	0.98[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs7716460	0.81[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830209	chr5:14154989-14301758	Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
2	nsv948355	chr5:14160447-14395478	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
3	nsv1026914	chr5:14237782-14751588	Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
4	nsv830210	chr5:14255039-14431552	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:14265200-14293000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr5:14268600-14291000	Weak transcription	Fetal Kidney	kidney
3	chr5:14270200-14290800	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr5:14270400-14288800	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr5:14270400-14289400	Weak transcription	Gastric	stomach
6	chr5:14270400-14293000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr5:14270400-14305200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr5:14270400-14313600	Weak transcription	Small Intestine	intestine
9	chr5:14270800-14293000	Weak transcription	Brain Hippocampus Middle	brain
10	chr5:14271000-14295800	Weak transcription	Brain Angular Gyrus	brain
11	chr5:14276800-14290800	Weak transcription	Esophagus	oesophagus
12	chr5:14277200-14291000	Weak transcription	Brain Anterior Caudate	brain
13	chr5:14278000-14341200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr5:14278600-14296200	Strong transcription	NH-A	brain
15	chr5:14279600-14295600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr5:14279800-14287800	Enhancers	Fetal Heart	heart
17	chr5:14279800-14287800	Strong transcription	Rectal Mucosa Donor 29	rectum
18	chr5:14279800-14293200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr5:14279800-14294600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr5:14280000-14295000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
21	chr5:14281400-14291000	Weak transcription	Primary hematopoietic stem cells	blood
22	chr5:14282200-14290000	Weak transcription	Fetal Thymus	thymus
23	chr5:14282400-14293400	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr5:14283000-14319400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr5:14284200-14296200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr5:14284800-14290400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
27	chr5:14284800-14290400	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr5:14284800-14290800	Weak transcription	Aorta	Aorta
29	chr5:14284800-14291000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr5:14285000-14292800	Weak transcription	Brain Cingulate Gyrus	brain
31	chr5:14285000-14295400	Weak transcription	Pancreatic Islets	Pancreatic Islet
32	chr5:14285200-14290200	Weak transcription	Fetal Brain Female	brain
33	chr5:14285200-14290800	Weak transcription	Ovary	ovary
34	chr5:14285200-14291200	Weak transcription	Thymus	Thymus
35	chr5:14285200-14293000	Weak transcription	Fetal Lung	lung
36	chr5:14285400-14291000	Weak transcription	Rectal Smooth Muscle	rectum
37	chr5:14285400-14293000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr5:14285600-14292800	Strong transcription	NHLF	lung
39	chr5:14285800-14288000	Enhancers	Primary B cells from cord blood	blood
40	chr5:14285800-14304200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr5:14286000-14287800	Strong transcription	NHEK	skin
42	chr5:14286000-14289000	Strong transcription	Hela-S3	cervix
43	chr5:14286000-14294000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr5:14286200-14287800	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr5:14286200-14287800	Strong transcription	Sigmoid Colon	Sigmoid Colon
46	chr5:14286200-14290800	Weak transcription	Brain Germinal Matrix	brain
47	chr5:14286200-14291800	Strong transcription	Cortex derived primary cultured neurospheres	brain
48	chr5:14286200-14292600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr5:14286200-14302200	Strong transcription	Rectal Mucosa Donor 31	rectum
50	chr5:14286200-14320400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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