Variant report

Variant	rs7999257
Chromosome Location	chr13:50574199-50574200
allele	A/C
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	chr13:50574145-50574201	MCF10A-Er-Src	breast:	n/a	n/a
2	POLR2A	chr13:50573382-50575037	K562	blood:	n/a	n/a
3	POLR2A	chr13:50573653-50574202	MCF10A-Er-Src	breast:	n/a	n/a
4	POLR2A	chr13:50573202-50575173	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr13:50572788..50574418-chr13:50579406..50581918,2	MCF-7	breast:
2	chr13:50572525..50574239-chr13:50585255..50587483,2	MCF-7	breast:
3	chr13:50573435..50577659-chr13:50588314..50591580,3	K562	blood:
4	chr13:50572352..50574935-chr13:50588640..50591580,2	K562	blood:
5	chr13:50569462..50575212-chr13:50651363..50657415,15	K562	blood:

Variant related genes	Relation type
MIR3613	TF binding region
TRIM13	TF binding region
ENSG00000198553	Chromatin interaction
ENSG00000176124	Chromatin interaction
ENSG00000231607	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs1326121	0.81[AMR][1000 genomes]
rs2066560	0.83[AFR][1000 genomes]
rs2066577	0.81[AMR][1000 genomes]
rs2066578	1.00[MEX][hapmap]
rs2066588	0.81[AMR][1000 genomes]
rs58584173	0.81[AMR][1000 genomes]
rs59019111	0.87[AMR][1000 genomes]
rs59881118	0.92[AFR][1000 genomes]
rs61558258	0.87[AFR][1000 genomes]
rs61623782	0.81[AMR][1000 genomes]
rs6561574	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes]
rs73491507	0.87[AMR][1000 genomes]
rs73491532	0.85[AFR][1000 genomes]
rs73494027	0.81[AMR][1000 genomes]
rs73494029	0.81[AMR][1000 genomes]
rs73494031	0.81[AMR][1000 genomes]
rs74078724	0.92[AFR][1000 genomes]
rs8001223	0.81[AMR][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	nsv1035151	chr13:50513535-51167850	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1254 gene(s)	inside rSNPs	diseases
2	esv2753964	chr13:50545399-51421199	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1256 gene(s)	inside rSNPs	diseases
3	esv2753492	chr13:50550081-51461720	Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1256 gene(s)	inside rSNPs	diseases
4	esv2752608	chr13:50550099-51054499	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1249 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:50571800-50585200	Weak transcription	Gastric	stomach
2	chr13:50572000-50574600	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr13:50572000-50574600	Enhancers	Stomach Mucosa	stomach
4	chr13:50572000-50574800	Transcr. at gene 5' and 3'	Dnd41	blood
5	chr13:50572000-50578400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr13:50572000-50578400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr13:50572000-50585800	Weak transcription	Ovary	ovary
8	chr13:50572200-50574200	Transcr. at gene 5' and 3'	HUES64 Cell Line	embryonic stem cell
9	chr13:50572200-50574400	Transcr. at gene 5' and 3'	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr13:50572200-50574400	Genic enhancers	Primary T cells fromperipheralblood	blood
11	chr13:50572200-50574600	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
12	chr13:50572200-50574600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr13:50572400-50574200	Transcr. at gene 5' and 3'	H1 Cell Line	embryonic stem cell
14	chr13:50572400-50574200	Genic enhancers	Primary B cells from peripheral blood	blood
15	chr13:50572400-50574800	Genic enhancers	Primary T helper cells fromperipheralblood	blood
16	chr13:50572400-50574800	Enhancers	Primary T killer memory cells from peripheral blood	blood
17	chr13:50572400-50574800	Transcr. at gene 5' and 3'	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr13:50572400-50574800	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
19	chr13:50572600-50574200	Enhancers	Primary hematopoietic stem cells	blood
20	chr13:50572600-50574200	Genic enhancers	Primary mononuclear cells fromperipheralblood	Blood
21	chr13:50572600-50574200	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
22	chr13:50572600-50574200	Genic enhancers	Fetal Muscle Leg	muscle
23	chr13:50572600-50574200	Transcr. at gene 5' and 3'	HUVEC	blood vessel
24	chr13:50572600-50574400	Enhancers	Brain Angular Gyrus	brain
25	chr13:50572600-50574600	Genic enhancers	Primary T helper memory cells from peripheral blood 1	blood
26	chr13:50572600-50574600	Genic enhancers	Fetal Lung	lung
27	chr13:50572600-50574800	Genic enhancers	Adipose Nuclei	Adipose
28	chr13:50572600-50574800	Enhancers	Rectal Mucosa Donor 31	rectum
29	chr13:50572600-50574800	Genic enhancers	Skeletal Muscle Male	skeletal muscle
30	chr13:50572600-50575600	Genic enhancers	Fetal Intestine Small	intestine
31	chr13:50572600-50577600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
32	chr13:50572600-50578400	Weak transcription	Esophagus	oesophagus
33	chr13:50572600-50579200	Weak transcription	HSMMtube	muscle
34	chr13:50572600-50589600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr13:50572800-50574200	Genic enhancers	Primary neutrophils fromperipheralblood	blood
36	chr13:50572800-50574200	Enhancers	Brain Cingulate Gyrus	brain
37	chr13:50572800-50574200	Enhancers	Right Atrium	heart
38	chr13:50572800-50574200	Genic enhancers	HepG2	liver
39	chr13:50572800-50574200	Enhancers	HMEC	breast
40	chr13:50572800-50574400	Genic enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr13:50572800-50574400	Transcr. at gene 5' and 3'	Fetal Brain Female	brain
42	chr13:50572800-50574800	Genic enhancers	Primary T helper naive cells from peripheral blood	blood
43	chr13:50572800-50574800	Genic enhancers	Duodenum Mucosa	Duodenum
44	chr13:50572800-50574800	Genic enhancers	NHEK	skin
45	chr13:50572800-50575000	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
46	chr13:50572800-50575000	Genic enhancers	Brain Anterior Caudate	brain
47	chr13:50572800-50575000	Enhancers	Pancreatic Islets	Pancreatic Islet
48	chr13:50572800-50575800	Genic enhancers	Fetal Intestine Large	intestine
49	chr13:50572800-50577600	Enhancers	Fetal Brain Male	brain
50	chr13:50572800-50578800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood

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