Variant report

Variant	rs820877
Chromosome Location	chr5:73989297-73989298
allele	C/T
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	MYC	chr5:73989010-73989384	MCF10A-Er-Src	breast:	n/a	n/a
2	E2F4	chr5:73989144-73989313	MCF10A-Er-Src	breast:	n/a	n/a
3	POLR2A	chr5:73988238-73990650	K562	blood:	n/a	n/a
4	STAT3	chr5:73988826-73989313	MCF10A-Er-Src	breast:	n/a	chr5:73989121-73989132
5	STAT3	chr5:73988786-73989420	MCF10A-Er-Src	breast:	n/a	chr5:73989121-73989132
6	FOS	chr5:73989012-73989361	MCF10A-Er-Src	breast:	n/a	n/a
7	FOS	chr5:73988978-73989371	MCF10A-Er-Src	breast:	n/a	n/a
8	FOS	chr5:73988924-73989514	MCF10A-Er-Src	breast:	n/a	n/a
9	STAT3	chr5:73988974-73989365	MCF10A-Er-Src	breast:	n/a	chr5:73989121-73989132
10	MYC	chr5:73988987-73989464	MCF10A-Er-Src	breast:	n/a	n/a
11	FOS	chr5:73988939-73989380	MCF10A-Er-Src	breast:	n/a	n/a
12	POLR2A	chr5:73988907-73989343	MCF10A-Er-Src	breast:	n/a	n/a
13	STAT3	chr5:73988912-73989403	MCF10A-Er-Src	breast:	n/a	chr5:73989121-73989132

No.	Distal block	Cell Line	Cell type
1	chr5:73979909..73982593-chr5:73987219..73990536,5	MCF-7	breast:
2	chr5:73979598..73982392-chr5:73983812..73990818,9	MCF-7	breast:
3	chr5:73979743..73983565-chr5:73984545..73990071,12	K562	blood:

Variant related genes	Relation type
HEXB	TF binding region
ENSG00000049860	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs1665894	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2442041	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73762936	0.84[AFR][1000 genomes]
rs820889	1.00[CHB][hapmap];0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][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	esv13844	chr5:73979961-73993853	Enhancers Transcr. at gene 5' and 3' Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
2	nsv598652	chr5:73980182-73992881	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
3	nsv934214	chr5:73981349-73993050	Active TSS Strong transcription Weak transcription Genic enhancers Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
4	nsv933165	chr5:73981599-73993050	Genic enhancers Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:73982000-73994400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr5:73982000-74002200	Weak transcription	Fetal Brain Female	brain
3	chr5:73982000-74017400	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr5:73982000-74061800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr5:73982200-74020600	Weak transcription	Fetal Brain Male	brain
6	chr5:73982400-73989600	Weak transcription	Fetal Thymus	thymus
7	chr5:73982400-73989800	Weak transcription	Thymus	Thymus
8	chr5:73982400-73993000	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr5:73982400-73994600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr5:73982400-73998200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr5:73982400-73999400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr5:73982400-74002200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr5:73982600-73999400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr5:73983000-73991800	Weak transcription	Colon Smooth Muscle	Colon
15	chr5:73983000-74001000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
16	chr5:73983000-74001600	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr5:73983000-74017400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
18	chr5:73983000-74027000	Weak transcription	Fetal Heart	heart
19	chr5:73983200-73992800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
20	chr5:73983200-73992800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
21	chr5:73983200-73993000	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr5:73983200-73993000	Weak transcription	GM12878-XiMat	blood
23	chr5:73983200-73994800	Weak transcription	Gastric	stomach
24	chr5:73983200-74002200	Weak transcription	Esophagus	oesophagus
25	chr5:73983200-74030200	Weak transcription	Small Intestine	intestine
26	chr5:73983400-73989600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr5:73983400-73992800	Weak transcription	Stomach Mucosa	stomach
28	chr5:73983400-73999000	Weak transcription	Colonic Mucosa	Colon
29	chr5:73983400-73999200	Weak transcription	Psoas Muscle	Psoas
30	chr5:73983400-74016000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
31	chr5:73984400-74002200	Strong transcription	Primary monocytes fromperipheralblood	blood
32	chr5:73984600-73989400	Strong transcription	K562	blood
33	chr5:73984600-73990200	Strong transcription	Primary hematopoietic stem cells	blood
34	chr5:73984600-73990200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr5:73984600-73990400	Strong transcription	Primary B cells from cord blood	blood
36	chr5:73984600-73990600	Strong transcription	Primary T cells from cord blood	blood
37	chr5:73984600-73990800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr5:73984600-74000400	Strong transcription	Monocytes-CD14+_RO01746	blood
39	chr5:73984600-74001000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr5:73984600-74001600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
41	chr5:73984600-74002600	Strong transcription	Primary neutrophils fromperipheralblood	blood
42	chr5:73984800-73990600	Strong transcription	Primary T cells fromperipheralblood	blood
43	chr5:73984800-73990800	Strong transcription	Sigmoid Colon	Sigmoid Colon
44	chr5:73984800-73995200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
45	chr5:73984800-73995200	Strong transcription	Duodenum Smooth Muscle	Duodenum
46	chr5:73985000-73990400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr5:73985000-73990600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr5:73985000-73990800	Strong transcription	Stomach Smooth Muscle	stomach
49	chr5:73985000-73994000	Strong transcription	Placenta	Placenta
50	chr5:73985000-74002600	Strong transcription	Duodenum Mucosa	Duodenum

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