Variant report

Variant	rs73010028
Chromosome Location	chr6:147236639-147236640
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	chr6:147235121-147237159	MCF10A-Er-Src	breast:	n/a	chr6:147236837-147236845 chr6:147236430-147236438 chr6:147235420-147235431 chr6:147237024-147237032 chr6:147235967-147235990 chr6:147236128-147236137 chr6:147235967-147235975
2	EP300	chr6:147234448-147237183	Hela-S3	cervix:	n/a	chr6:147236127-147236136 chr6:147235715-147235724
3	EP300	chr6:147234848-147236772	SK-N-SH	brain:	n/a	chr6:147236127-147236136 chr6:147235715-147235724
4	STAT3	chr6:147235045-147236687	Hela-S3	cervix:	n/a	chr6:147236430-147236438 chr6:147235420-147235431 chr6:147235967-147235990 chr6:147236128-147236137 chr6:147235967-147235975
5	TEAD4	chr6:147234222-147237330	K562	blood:	n/a	n/a
6	EP300	chr6:147233867-147237300	SK-N-SH	brain:	n/a	chr6:147233984-147233991 chr6:147236127-147236136 chr6:147235715-147235724 chr6:147234002-147234011
7	FOS	chr6:147234528-147237260	MCF10A-Er-Src	breast:	n/a	chr6:147236129-147236136 chr6:147236127-147236137 chr6:147236127-147236137 chr6:147235716-147235724 chr6:147235716-147235724 chr6:147235717-147235724 chr6:147236127-147236136 chr6:147236126-147236138 chr6:147237087-147237098 chr6:147236128-147236137
8	MAFK	chr6:147235029-147236899	Hela-S3	cervix:	n/a	chr6:147235216-147235231 chr6:147235221-147235230 chr6:147235221-147235231 chr6:147235217-147235228 chr6:147235714-147235724
9	TEAD4	chr6:147234958-147236645	SK-N-SH	brain:	n/a	n/a
10	TCF12	chr6:147234884-147237309	SK-N-SH	brain:	n/a	chr6:147235818-147235825
11	FOS	chr6:147234566-147237322	HUVEC	blood vessel:	n/a	chr6:147236129-147236136 chr6:147236127-147236137 chr6:147236127-147236137 chr6:147235716-147235724 chr6:147235716-147235724 chr6:147235717-147235724 chr6:147236127-147236136 chr6:147236126-147236138 chr6:147237087-147237098 chr6:147236128-147236137
12	POLR2A	chr6:147234889-147237321	U87	brain:	n/a	n/a
13	GATA2	chr6:147234294-147237420	HUVEC	blood vessel:	n/a	chr6:147235807-147235817 chr6:147234681-147234691 chr6:147236401-147236417 chr6:147236078-147236087 chr6:147236401-147236417
14	POLR2A	chr6:147234850-147237279	U87	brain:	n/a	n/a
15	NFIC	chr6:147234898-147236659	SK-N-SH	brain:	n/a	n/a
16	POLR2A	chr6:147234565-147237280	IMR90	lung:	n/a	n/a
17	RXRA	chr6:147234893-147236690	SK-N-SH	brain:	n/a	chr6:147236127-147236136
18	TBP	chr6:147234559-147237147	Hela-S3	cervix:	n/a	n/a
19	ARID3A	chr6:147234419-147237096	K562	blood:	n/a	n/a
20	GATA1	chr6:147233709-147236880	PBDE	blood:	n/a	chr6:147235807-147235817 chr6:147234681-147234691 chr6:147236401-147236417 chr6:147236078-147236087 chr6:147236401-147236417
21	POLR2A	chr6:147236550-147237257	HUVEC	blood vessel:	n/a	n/a
22	JUN	chr6:147232993-147238813	K562	blood:	n/a	chr6:147236129-147236136 chr6:147237375-147237386 chr6:147236127-147236137 chr6:147236127-147236137 chr6:147235716-147235724 chr6:147235716-147235724 chr6:147238505-147238513 chr6:147237895-147237909 chr6:147235717-147235724 chr6:147236127-147236136 chr6:147236126-147236138 chr6:147236128-147236137
23	FOS	chr6:147234475-147237273	MCF10A-Er-Src	breast:	n/a	chr6:147236129-147236136 chr6:147236127-147236137 chr6:147236127-147236137 chr6:147235716-147235724 chr6:147235716-147235724 chr6:147235717-147235724 chr6:147236127-147236136 chr6:147236126-147236138 chr6:147237087-147237098 chr6:147236128-147236137
24	STAT3	chr6:147235111-147237189	MCF10A-Er-Src	breast:	n/a	chr6:147236837-147236845 chr6:147236430-147236438 chr6:147235420-147235431 chr6:147237024-147237032 chr6:147235967-147235990 chr6:147236128-147236137 chr6:147235967-147235975
25	TCF12	chr6:147234480-147237383	SK-N-SH	brain:	n/a	chr6:147235818-147235825
26	POLR2A	chr6:147234889-147237384	U87	brain:	n/a	n/a
27	GATA3	chr6:147234304-147237491	SK-N-SH	brain:	n/a	chr6:147235807-147235817 chr6:147234681-147234691 chr6:147236401-147236417 chr6:147236078-147236087 chr6:147236401-147236417
28	TEAD4	chr6:147234848-147236704	SK-N-SH	brain:	n/a	n/a
29	MEF2A	chr6:147234930-147236702	SK-N-SH	brain:	n/a	chr6:147236558-147236575 chr6:147236271-147236288 chr6:147236558-147236573 chr6:147236560-147236575 chr6:147235716-147235724 chr6:147236189-147236200
30	FOXM1	chr6:147234989-147236770	SK-N-SH	brain:	n/a	n/a
31	GATA3	chr6:147234242-147237387	SK-N-SH	brain:	n/a	chr6:147235807-147235817 chr6:147234681-147234691 chr6:147236401-147236417 chr6:147236078-147236087 chr6:147236401-147236417
32	BRCA1	chr6:147235051-147236683	Hela-S3	cervix:	n/a	n/a
33	GATA3	chr6:147234932-147236714	MCF-7	breast:	n/a	chr6:147235807-147235817 chr6:147236401-147236417 chr6:147236078-147236087 chr6:147236401-147236417
34	RFX5	chr6:147234638-147237111	Hela-S3	cervix:	n/a	chr6:147236880-147236894 chr6:147236235-147236243 chr6:147235218-147235226
35	POLR2A	chr6:147234485-147237168	MCF10A-Er-Src	breast:	n/a	n/a
36	TCF7L2	chr6:147234896-147236696	PANC-1	pancreas:	n/a	chr6:147236128-147236137
37	CHD1	chr6:147234225-147237926	IMR90	lung:	n/a	n/a
38	GATA3	chr6:147234812-147236685	A549	lung:	n/a	chr6:147235807-147235817 chr6:147236401-147236417 chr6:147236078-147236087 chr6:147236401-147236417
39	JUND	chr6:147233833-147237440	SK-N-SH	brain:	n/a	chr6:147236129-147236136 chr6:147237375-147237386 chr6:147236127-147236137 chr6:147235221-147235232 chr6:147236127-147236137 chr6:147235716-147235724 chr6:147235716-147235724 chr6:147235717-147235724 chr6:147236127-147236136 chr6:147237087-147237098 chr6:147236126-147236138 chr6:147236126-147236137 chr6:147236128-147236137
40	CEBPB	chr6:147234361-147237038	Hela-S3	cervix:	n/a	n/a
41	CBX3	chr6:147236611-147237346	K562	blood:	n/a	n/a
42	EP300	chr6:147234842-147237433	SK-N-SH	brain:	n/a	chr6:147236127-147236136 chr6:147235715-147235724
43	MEF2A	chr6:147235833-147236706	SK-N-SH	brain:	n/a	chr6:147236558-147236575 chr6:147236271-147236288 chr6:147236558-147236573 chr6:147236560-147236575 chr6:147236189-147236200
44	RAD21	chr6:147234619-147237233	Hela-S3	cervix:	n/a	n/a
45	NR2F2	chr6:147236554-147238111	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:147232346..147237544-chr6:147521050..147527983,13	K562	blood:
2	chr6:147234020..147237797-chr6:147479326..147483886,4	K562	blood:
3	chr6:147229677..147239083-chr6:147521152..147530893,22	K562	blood:
4	chr6:146134441..146136480-chr6:147234336..147236688,2	K562	blood:
5	chr6:147235428..147237038-chr6:147271559..147273136,2	K562	blood:
6	chr6:147230413..147232261-chr6:147234463..147236812,2	MCF-7	breast:
7	chr6:147231935..147237791-chr6:147522176..147527834,11	MCF-7	breast:
8	chr6:147235229..147236928-chr6:147271559..147273634,2	K562	blood:
9	chr6:147233166..147237387-chr6:147522685..147525854,6	MCF-7	breast:

Variant related genes	Relation type
STXBP5-AS1	TF binding region
ENSG00000235652	Chromatin interaction
ENSG00000233452	Chromatin interaction
ENSG00000272397	Chromatin interaction
ENSG00000164506	Chromatin interaction
ENSG00000196634	Chromatin interaction
ENSG00000118496	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs73008033	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs73008066	1.00[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs73011833	1.00[AFR][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	nsv830838	chr6:147090745-147274669	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	esv2760996	chr6:147229457-147269633	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:147233000-147237400	Enhancers	Primary hematopoietic stem cells short term culture	blood
2	chr6:147233800-147237200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr6:147233800-147237400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr6:147234000-147237000	Flanking Active TSS	K562	blood
5	chr6:147234200-147236800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr6:147234200-147237400	Enhancers	Fetal Intestine Large	intestine
7	chr6:147234400-147236800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr6:147234400-147237200	Flanking Active TSS	HUVEC	blood vessel
9	chr6:147234600-147237200	Flanking Active TSS	HMEC	breast
10	chr6:147234600-147237400	Enhancers	Fetal Intestine Small	intestine
11	chr6:147234800-147237000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr6:147235000-147237200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr6:147235000-147237200	Flanking Active TSS	NHEK	skin
14	chr6:147235200-147236800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr6:147235400-147237400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr6:147235600-147236800	Enhancers	Cortex derived primary cultured neurospheres	brain
17	chr6:147235600-147237000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr6:147235600-147237000	Enhancers	Fetal Muscle Leg	muscle
19	chr6:147235600-147237200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr6:147235600-147237200	Enhancers	Primary hematopoietic stem cells	blood
21	chr6:147235600-147238200	Enhancers	Primary neutrophils fromperipheralblood	blood
22	chr6:147235800-147236800	Weak transcription	Placenta	Placenta
23	chr6:147235800-147236800	Weak transcription	Lung	lung
24	chr6:147235800-147237000	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr6:147235800-147237000	Enhancers	Brain Cingulate Gyrus	brain
26	chr6:147235800-147237000	Enhancers	Spleen	Spleen
27	chr6:147235800-147237400	Enhancers	Rectal Smooth Muscle	rectum
28	chr6:147235800-147238200	Enhancers	Primary monocytes fromperipheralblood	blood
29	chr6:147236000-147236800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr6:147236000-147236800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr6:147236000-147236800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr6:147236000-147236800	Enhancers	Hela-S3	cervix
33	chr6:147236000-147236800	Active TSS	HSMM	muscle
34	chr6:147236000-147237000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr6:147236000-147237000	Enhancers	Fetal Heart	heart
36	chr6:147236000-147237000	Enhancers	Skeletal Muscle Male	skeletal muscle
37	chr6:147236000-147237000	Enhancers	Skeletal Muscle Female	skeletal muscle
38	chr6:147236000-147237200	Enhancers	Pancreatic Islets	Pancreatic Islet
39	chr6:147236000-147237400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr6:147236000-147237400	Enhancers	HSMMtube	muscle
41	chr6:147236000-147238400	Weak transcription	Pancreas	Pancrea
42	chr6:147236200-147236800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr6:147236200-147237000	Enhancers	Colon Smooth Muscle	Colon
44	chr6:147236200-147237200	Flanking Active TSS	NHLF	lung
45	chr6:147236400-147237000	Enhancers	Aorta	Aorta
46	chr6:147236400-147237200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr6:147236400-147237200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr6:147236400-147237200	Flanking Active TSS	A549	lung
49	chr6:147236400-147237400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr6:147236400-147237400	Flanking Active TSS	NH-A	brain

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