Variant report

Variant	rs73377532
Chromosome Location	chr7:66146431-66146432
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:36)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:36 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr7:66146015-66148114	GM12878	blood:	n/a	n/a
2	ATF2	chr7:66146428-66147281	GM12878	blood:	n/a	n/a
3	POLR2A	chr7:66146078-66147376	GM12891	blood:	n/a	n/a
4	POLR2A	chr7:66146333-66147705	K562	blood:	n/a	n/a
5	POLR2A	chr7:66146377-66147482	PFSK-1	brain:	n/a	n/a
6	MTA3	chr7:66146051-66147529	GM12878	blood:	n/a	n/a
7	YY1	chr7:66146331-66146739	GM12892	blood:	n/a	n/a
8	CBX3	chr7:66146127-66148017	K562	blood:	n/a	n/a
9	POU2F2	chr7:66146404-66147352	GM12878	blood:	n/a	chr7:66147299-66147311
10	PAX5	chr7:66146410-66147616	GM12878	blood:	n/a	chr7:66147310-66147327 chr7:66147019-66147028 chr7:66146766-66146793 chr7:66146770-66146789
11	GTF3C2	chr7:66146088-66147787	K562	blood:	n/a	n/a
12	MXI1	chr7:66145839-66148202	SK-N-SH	brain:	n/a	n/a
13	POLR2A	chr7:66146288-66147647	MCF-7	breast:	n/a	n/a
14	POLR2A	chr7:66146328-66147578	K562	blood:	n/a	n/a
15	POLR2A	chr7:66146359-66147390	GM12878	blood:	n/a	n/a
16	POU2F2	chr7:66146373-66147339	GM12891	blood:	n/a	chr7:66147299-66147311
17	POLR2A	chr7:66146413-66147471	SK-N-SH	brain:	n/a	n/a
18	SMARCB1	chr7:66146398-66148024	Hela-S3	cervix:	n/a	n/a
19	POLR2A	chr7:66146396-66147678	GM12878	blood:	n/a	n/a
20	POLR2A	chr7:66146060-66148035	Hela-S3	cervix:	n/a	n/a
21	ZNF384	chr7:66146268-66146436	K562	blood:	n/a	n/a
22	CHD1	chr7:66146109-66149232	IMR90	lung:	n/a	n/a
23	POLR2A	chr7:66146342-66147880	K562	blood:	n/a	n/a
24	HEY1	chr7:66146405-66147383	K562	blood:	n/a	n/a
25	POLR2A	chr7:66146365-66148059	GM12892	blood:	n/a	n/a
26	POLR2A	chr7:66146400-66147517	GM12892	blood:	n/a	n/a
27	POLR2A	chr7:66146407-66147819	Hela-S3	cervix:	n/a	n/a
28	POLR2A	chr7:66145544-66148515	IMR90	lung:	n/a	n/a
29	GABPA	chr7:66146404-66148006	K562	blood:	n/a	n/a
30	POLR2A	chr7:66146377-66147641	Hela-S3	cervix:	n/a	n/a
31	POLR2A	chr7:66146158-66148127	HepG2	liver:	n/a	n/a
32	SMARCC1	chr7:66146006-66148129	Hela-S3	cervix:	n/a	n/a
33	POLR2A	chr7:66146058-66147643	K562	blood:	n/a	n/a
34	ELF1	chr7:66146395-66148095	GM12878	blood:	n/a	chr7:66146866-66146875 chr7:66146865-66146876
35	POLR2A	chr7:66146059-66147728	PANC-1	pancreas:	n/a	n/a
36	POLR2A	chr7:66146415-66147689	SK-N-MC	brain:	n/a	n/a

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:66144088..66147004-chr7:66459962..66461648,2	MCF-7	breast:
2	chr7:66145930..66148922-chr7:66213233..66215140,2	MCF-7	breast:
3	chr7:66118152..66121117-chr7:66145225..66147766,4	MCF-7	breast:
4	chr7:66145800..66148420-chr7:66309175..66311369,3	MCF-7	breast:
5	chr1:25573287..25574307-chr7:66146290..66147502,3	Hela-S3	cervix:
6	chr7:66121223..66123141-chr7:66144196..66146928,3	MCF-7	breast:
7	chr7:66144717..66148625-chr7:66203954..66207507,5	K562	blood:
8	chr7:66145819..66148736-chr7:66203770..66205462,3	MCF-7	breast:
9	chr7:66119490..66121348-chr7:66145844..66148158,2	K562	blood:
10	chr7:66144687..66148625-chr7:66203954..66207507,6	K562	blood:
11	chr7:66056772..66058576-chr7:66145183..66146865,2	MCF-7	breast:

No data

Variant related genes	Relation type
RABGEF1	TF binding region
ENSG00000154710	Chromatin interaction
ENSG00000126524	Chromatin interaction
ENSG00000117616	Chromatin interaction
ENSG00000198874	Chromatin interaction
ENSG00000232559	Chromatin interaction
ENSG00000230583	Chromatin interaction
ENSG00000272831	Chromatin interaction
ENSG00000226824	Chromatin interaction
ENSG00000271064	Chromatin interaction
ENSG00000243335	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs57116165	1.00[AFR][1000 genomes]
rs58437050	1.00[AFR][1000 genomes]
rs61229245	1.00[AFR][1000 genomes]
rs61577818	1.00[AFR][1000 genomes]
rs73375308	1.00[AFR][1000 genomes]
rs73375312	1.00[AFR][1000 genomes]
rs73375336	1.00[AFR][1000 genomes]
rs73375341	1.00[AFR][1000 genomes]
rs73375369	1.00[AFR][1000 genomes]
rs73375386	1.00[AFR][1000 genomes]
rs73377516	1.00[AFR][1000 genomes]
rs73377576	1.00[AFR][1000 genomes]
rs73379714	1.00[AFR][1000 genomes]
rs73379717	1.00[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	nsv532124	chr7:65371521-66234730	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	125 gene(s)	inside rSNPs	diseases
2	nsv1026559	chr7:65617368-66370805	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	116 gene(s)	inside rSNPs	diseases
3	nsv981398	chr7:66138644-66147890	Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	esv3385090	chr7:66146376-66205022	Weak transcription Strong transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats 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 lncRNA	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:66146000-66146600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr7:66146000-66146600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr7:66146000-66146600	Flanking Active TSS	Primary T cells from cord blood	blood
4	chr7:66146000-66146600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr7:66146000-66146600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr7:66146000-66146600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr7:66146000-66146600	Flanking Active TSS	Brain Angular Gyrus	brain
8	chr7:66146000-66146600	Flanking Active TSS	Brain Anterior Caudate	brain
9	chr7:66146000-66146600	Flanking Active TSS	Brain Cingulate Gyrus	brain
10	chr7:66146000-66146600	Flanking Active TSS	Duodenum Mucosa	Duodenum
11	chr7:66146000-66146600	Flanking Active TSS	Dnd41	blood
12	chr7:66146000-66146600	Flanking Active TSS	Hela-S3	cervix
13	chr7:66146000-66146600	Flanking Active TSS	HMEC	breast
14	chr7:66146000-66146600	Flanking Active TSS	NHEK	skin
15	chr7:66146000-66146800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
16	chr7:66146000-66146800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
17	chr7:66146000-66146800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr7:66146000-66146800	Flanking Active TSS	Osteobl	bone
19	chr7:66146000-66147000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
20	chr7:66146000-66147000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr7:66146000-66147400	Active TSS	ES-I3 Cell Line	embryonic stem cell
22	chr7:66146000-66147600	Active TSS	Stomach Smooth Muscle	stomach
23	chr7:66146000-66147800	Active TSS	HUES64 Cell Line	embryonic stem cell
24	chr7:66146000-66147800	Active TSS	Rectal Mucosa Donor 29	rectum
25	chr7:66146000-66148200	Active TSS	iPS-15b Cell Line	embryonic stem cell
26	chr7:66146000-66148400	Active TSS	HUES6 Cell Line	embryonic stem cell
27	chr7:66146000-66148400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr7:66146000-66148400	Active TSS	Pancreatic Islets	Pancreatic Islet
29	chr7:66146000-66148800	Active TSS	Breast Myoepithelial Primary Cells	Breast
30	chr7:66146000-66149200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr7:66146200-66146600	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr7:66146200-66146600	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
33	chr7:66146200-66146600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
34	chr7:66146200-66146600	Flanking Active TSS	Primary B cells from cord blood	blood
35	chr7:66146200-66146600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
36	chr7:66146200-66146600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
37	chr7:66146200-66146600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
38	chr7:66146200-66146600	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
39	chr7:66146200-66146600	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
40	chr7:66146200-66146600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
41	chr7:66146200-66146600	Flanking Active TSS	Brain Germinal Matrix	brain
42	chr7:66146200-66146600	Flanking Active TSS	Brain Hippocampus Middle	brain
43	chr7:66146200-66146600	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
44	chr7:66146200-66146600	Flanking Active TSS	Colonic Mucosa	Colon
45	chr7:66146200-66146600	Flanking Active TSS	Colon Smooth Muscle	Colon
46	chr7:66146200-66146600	Flanking Active TSS	Fetal Brain Male	brain
47	chr7:66146200-66146600	Flanking Active TSS	Fetal Brain Female	brain
48	chr7:66146200-66146600	Flanking Active TSS	Fetal Heart	heart
49	chr7:66146200-66146600	Flanking Active TSS	Fetal Lung	lung
50	chr7:66146200-66146600	Flanking Active TSS	Fetal Thymus	thymus

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