Variant report

Variant	rs930807
Chromosome Location	chr6:74104793-74104794
allele	G/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	REST	chr6:74104401-74105027	PANC-1	pancreas:	n/a	n/a
2	TCF7L2	chr6:74104256-74105065	PANC-1	pancreas:	n/a	chr6:74104842-74104856
3	EGR1	chr6:74104164-74104800	ECC-1	luminal epithelium:	n/a	chr6:74104424-74104437 chr6:74104486-74104497 chr6:74104485-74104498 chr6:74104467-74104480 chr6:74104349-74104359 chr6:74104422-74104432 chr6:74104348-74104358 chr6:74104487-74104497 chr6:74104493-74104503 chr6:74104485-74104498 chr6:74104485-74104498 chr6:74104336-74104351 chr6:74104485-74104498 chr6:74104487-74104497 chr6:74104485-74104499 chr6:74104344-74104357 chr6:74104337-74104350 chr6:74104484-74104499 chr6:74104486-74104497 chr6:74104488-74104497
4	MAX	chr6:74104275-74104896	MCF-7	breast:	n/a	chr6:74104490-74104500
5	USF1	chr6:74104293-74105040	ECC-1	luminal epithelium:	n/a	n/a
6	POLR2A	chr6:74104272-74105085	MCF-7	breast:	n/a	n/a
7	MYC	chr6:74104374-74104968	MCF-7	breast:	n/a	chr6:74104490-74104500
8	MAX	chr6:74104205-74105096	ECC-1	luminal epithelium:	n/a	chr6:74104490-74104500
9	POLR2A	chr6:74103972-74105304	PANC-1	pancreas:	n/a	n/a
10	MAX	chr6:74104240-74105129	ECC-1	luminal epithelium:	n/a	chr6:74104490-74104500
11	TCF12	chr6:74104225-74104922	ECC-1	luminal epithelium:	n/a	n/a
12	HA-E2F1	chr6:74104560-74105231	MCF-7	breast:	n/a	n/a
13	ZNF143	chr6:74104681-74104854	H1-hESC	embryonic stem cell:	n/a	n/a
14	STAT1	chr6:74104620-74104804	GM12878	blood:	n/a	n/a
15	SIN3AK20	chr6:74104143-74105266	PANC-1	pancreas:	n/a	n/a
16	POLR2A	chr6:74104015-74105265	PANC-1	pancreas:	n/a	n/a
17	EGR1	chr6:74104249-74104831	MCF-7	breast:	n/a	chr6:74104424-74104437 chr6:74104486-74104497 chr6:74104485-74104498 chr6:74104467-74104480 chr6:74104349-74104359 chr6:74104422-74104432 chr6:74104348-74104358 chr6:74104487-74104497 chr6:74104493-74104503 chr6:74104485-74104498 chr6:74104485-74104498 chr6:74104336-74104351 chr6:74104485-74104498 chr6:74104487-74104497 chr6:74104485-74104499 chr6:74104344-74104357 chr6:74104337-74104350 chr6:74104484-74104499 chr6:74104486-74104497 chr6:74104488-74104497
18	MAX	chr6:74104210-74105102	MCF-7	breast:	n/a	chr6:74104490-74104500
19	USF1	chr6:74104320-74105030	ECC-1	luminal epithelium:	n/a	n/a
20	POLR2A	chr6:74104354-74105036	ECC-1	luminal epithelium:	n/a	n/a
21	TCF7L2	chr6:74104700-74104960	MCF-7	breast:	n/a	chr6:74104842-74104856
22	MYC	chr6:74104323-74104979	MCF-7	breast:	n/a	chr6:74104490-74104500
23	POLR2A	chr6:74104262-74105146	MCF-7	breast:	n/a	n/a
24	TAF1	chr6:74104418-74105062	ECC-1	luminal epithelium:	n/a	n/a
25	POLR2A	chr6:74104195-74105046	ECC-1	luminal epithelium:	n/a	n/a
26	SRF	chr6:74104198-74104848	MCF-7	breast:	n/a	n/a
27	POLR2A	chr6:74104793-74104810	ProgFib	skin:	n/a	n/a
28	POLR2A	chr6:74104301-74105107	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:74099074..74102810-chr6:74103260..74106649,3	K562	blood:
2	6:73859137-73881637..6:74099986-74112890	GM12878	blood:
3	chr6:74102482..74106495-chr6:74159619..74163030,5	MCF-7	breast:
4	chr6:74101120..74105028-chr6:74169928..74173303,3	K562	blood:
5	6:74000304-74012200..6:74099986-74112890	H1-hESC	embryonic stem cell:	embryo
6	chr6:74103315..74106293-chr6:74362194..74365078,3	MCF-7	breast:
7	chr6:74019175..74020751-chr6:74101665..74105754,3	MCF-7	breast:

Variant related genes	Relation type
RPS6P8	TF binding region
ENSG00000238464	TF binding region
ENSG00000164430	Chromatin interaction
ENSG00000135297	Chromatin interaction
ENSG00000135314	Chromatin interaction
ENSG00000119899	Chromatin interaction
ENSG00000234882	Chromatin interaction
ENSG00000234025	Chromatin interaction
ENSG00000224221	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs11961187	0.88[AMR][1000 genomes]
rs11964808	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes]
rs12662148	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes]
rs12663695	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes]
rs12665048	0.96[AMR][1000 genomes]
rs16883692	0.96[AMR][1000 genomes]
rs2280286	0.85[AMR][1000 genomes]
rs3734512	0.96[AMR][1000 genomes]
rs3734516	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes]
rs3757107	0.96[AMR][1000 genomes]
rs723402	0.96[AMR][1000 genomes]
rs72961942	1.00[AFR][1000 genomes]
rs7747491	0.83[AMR][1000 genomes]
rs930806	0.96[AMR][1000 genomes]
rs930808	0.96[AMR][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	esv3410973	chr6:73716033-74419545	Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	191 gene(s)	inside rSNPs	diseases
2	nsv830693	chr6:74049342-74216080	Flanking Active TSS Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:74099200-74110200	Weak transcription	Right Atrium	heart
2	chr6:74101800-74108400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr6:74102200-74105400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr6:74104000-74105200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr6:74104200-74105000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr6:74104200-74105200	Active TSS	Ovary	ovary
7	chr6:74104200-74105200	Active TSS	Stomach Smooth Muscle	stomach
8	chr6:74104400-74104800	Active TSS	Primary T helper cells PMA-I stimulated	--
9	chr6:74104400-74104800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr6:74104400-74104800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr6:74104400-74104800	ZNF genes & repeats	Fetal Intestine Small	intestine
12	chr6:74104400-74104800	Flanking Active TSS	Placenta	Placenta
13	chr6:74104400-74104800	ZNF genes & repeats	Lung	lung
14	chr6:74104400-74105000	Active TSS	Primary neutrophils fromperipheralblood	blood
15	chr6:74104400-74105000	Active TSS	Primary T cells fromperipheralblood	blood
16	chr6:74104400-74105000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr6:74104400-74105000	Active TSS	Pancreas	Pancrea
18	chr6:74104400-74105000	Active TSS	Rectal Mucosa Donor 31	rectum
19	chr6:74104400-74105000	Active TSS	Thymus	Thymus
20	chr6:74104600-74104800	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr6:74104600-74104800	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr6:74104600-74104800	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
23	chr6:74104600-74104800	Flanking Active TSS	Fetal Muscle Trunk	muscle
24	chr6:74104600-74104800	Active TSS	Placenta Amnion	Placenta Amnion
25	chr6:74104600-74105000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr6:74104600-74105000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr6:74104600-74105000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr6:74104600-74105000	Active TSS	Breast Myoepithelial Primary Cells	Breast
29	chr6:74104600-74105000	Active TSS	Primary B cells from peripheral blood	blood
30	chr6:74104600-74105000	Active TSS	Primary T helper cells fromperipheralblood	blood
31	chr6:74104600-74105000	Active TSS	Primary T regulatory cells fromperipheralblood	blood
32	chr6:74104600-74105000	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
33	chr6:74104600-74105000	Active TSS	Primary T killer naive cells fromperipheralblood	blood
34	chr6:74104600-74105000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr6:74104600-74105000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr6:74104600-74105000	Active TSS	Adipose Nuclei	Adipose
37	chr6:74104600-74105000	Active TSS	Duodenum Mucosa	Duodenum
38	chr6:74104600-74105000	Active TSS	Pancreatic Islets	Pancreatic Islet
39	chr6:74104600-74105000	Bivalent/Poised TSS	Fetal Stomach	stomach
40	chr6:74104600-74105000	Active TSS	Right Ventricle	heart
41	chr6:74104600-74105000	Active TSS	Skeletal Muscle Male	skeletal muscle
42	chr6:74104600-74105000	Active TSS	HSMM	muscle
43	chr6:74104600-74105000	Active TSS	HSMMtube	muscle
44	chr6:74104600-74105000	Active TSS	HUVEC	blood vessel
45	chr6:74104600-74105000	Active TSS	NH-A	brain
46	chr6:74104600-74105000	Active TSS	NHLF	lung
47	chr6:74104600-74105000	Active TSS	Osteobl	bone

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