Variant report

Variant	rs930808
Chromosome Location	chr6:74104905-74104906
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:21)
CpG islands
(count:61)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:21 , 50 per page) page: 1

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	USF1	chr6:74104293-74105040	ECC-1	luminal epithelium:	n/a	n/a
4	POLR2A	chr6:74104272-74105085	MCF-7	breast:	n/a	n/a
5	MYC	chr6:74104374-74104968	MCF-7	breast:	n/a	chr6:74104490-74104500
6	MAX	chr6:74104205-74105096	ECC-1	luminal epithelium:	n/a	chr6:74104490-74104500
7	POLR2A	chr6:74103972-74105304	PANC-1	pancreas:	n/a	n/a
8	MAX	chr6:74104240-74105129	ECC-1	luminal epithelium:	n/a	chr6:74104490-74104500
9	TCF12	chr6:74104225-74104922	ECC-1	luminal epithelium:	n/a	n/a
10	HA-E2F1	chr6:74104560-74105231	MCF-7	breast:	n/a	n/a
11	SIN3AK20	chr6:74104143-74105266	PANC-1	pancreas:	n/a	n/a
12	POLR2A	chr6:74104015-74105265	PANC-1	pancreas:	n/a	n/a
13	MAX	chr6:74104210-74105102	MCF-7	breast:	n/a	chr6:74104490-74104500
14	USF1	chr6:74104320-74105030	ECC-1	luminal epithelium:	n/a	n/a
15	POLR2A	chr6:74104354-74105036	ECC-1	luminal epithelium:	n/a	n/a
16	TCF7L2	chr6:74104700-74104960	MCF-7	breast:	n/a	chr6:74104842-74104856
17	MYC	chr6:74104323-74104979	MCF-7	breast:	n/a	chr6:74104490-74104500
18	POLR2A	chr6:74104262-74105146	MCF-7	breast:	n/a	n/a
19	TAF1	chr6:74104418-74105062	ECC-1	luminal epithelium:	n/a	n/a
20	POLR2A	chr6:74104195-74105046	ECC-1	luminal epithelium:	n/a	n/a
21	POLR2A	chr6:74104301-74105107	MCF-7	breast:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:74104868-74104918	ECC-1	luminal epithelium:	n/a
2	chr6:74104868-74104918	GM19239	blood:	n/a
3	chr6:74104868-74104918	MCF10A-Er-Src	breast:	n/a
4	chr6:74104868-74104918	ProgFib	skin:	n/a
5	chr6:74104868-74104918	BE2_C	brain:	n/a
6	chr6:74104868-74104918	ovcar-3	ovarian:	n/a
7	chr6:74104868-74104918	NHBE	bronchial:	n/a
8	chr6:74104868-74104918	BJ	skin:	n/a
9	chr6:74104868-74104918	HCPEpiC	choroid plexus:	n/a
10	chr6:74104868-74104918	Jurkat	blood:	n/a
11	chr6:74104868-74104918	HPAEpiC	pulmonary alveolar:	n/a
12	chr6:74104868-74104918	HepG2	liver:	n/a
13	chr6:74104868-74104918	AG09319	gingival:	n/a
14	chr6:74104868-74104918	AG04450	lung:	fetal
15	chr6:74104868-74104918	AG09309	skin:	n/a
16	chr6:74104868-74104918	AoSMC	blood vessel:	n/a
17	chr6:74104868-74104918	HCF	heart:	n/a
18	chr6:74104868-74104918	GM12878	blood:	n/a
19	chr6:74104868-74104918	NHDF-neo	bronchial:	n/a
20	chr6:74104868-74104918	PFSK-1	brain:	n/a
21	chr6:74104868-74104918	GM12891	blood:	n/a
22	chr6:74104868-74104918	SKMC	muscle:	n/a
23	chr6:74104868-74104918	MCF-7	breast:	n/a
24	chr6:74104868-74104918	HCT-116	colon:	n/a
25	chr6:74104868-74104918	HRCEpiC	kidney:	n/a
26	chr6:74104868-74104918	NH-A	brain:	n/a
27	chr6:74104868-74104918	HUVEC	blood vessel:	n/a
28	chr6:74104868-74104918	NT2-D1	testis:	n/a
29	chr6:74104868-74104918	Caco-2	colon:	n/a
30	chr6:74104868-74104918	SK-N-SH	brain:	n/a
31	chr6:74104868-74104918	Hepatocyte	liver:	n/a
32	chr6:74104868-74104918	HMEC	breast:	n/a
33	chr6:74104868-74104918	HRPEpiC	eye:	n/a
34	chr6:74104868-74104918	NB4	blood:	n/a
35	chr6:74104868-74104918	H1-hESC	embryonic stem cell:	embryo
36	chr6:74104868-74104918	AG04449	skin:	fetal
37	chr6:74104868-74104918	HRE	kidney:	n/a
38	chr6:74104868-74104918	CMK	blood:	n/a
39	chr6:74104868-74104918	Hela-S3	cervix:	n/a
40	chr6:74104868-74104918	AG10803	skin:	n/a
41	chr6:74104868-74104918	HCM	heart:	n/a
42	chr6:74104868-74104918	LNCaP	prostate:	n/a
43	chr6:74104868-74104918	HAEpiC	amniotic membrane:	n/a
44	chr6:74104868-74104918	HEK293	kidney:	embryo
45	chr6:74104868-74104918	PrEC	prostate:	n/a
46	chr6:74104868-74104918	HEEpiC	esophagus:	n/a
47	chr6:74104868-74104918	T-47D	breast:	n/a
48	chr6:74104868-74104918	HL-60	blood:	n/a
49	chr6:74104868-74104918	A549	lung:	n/a
50	chr6:74104868-74104918	SK-N-MC	brain:	n/a

(count:7 , 50 per page) page: 1

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:

No data

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

Extended variants
information (count: 16 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11961187	0.85[AMR][1000 genomes]
rs11964808	0.94[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs12662148	0.98[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12663695	0.94[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs12665048	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16883692	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs2280286	0.81[AMR][1000 genomes]
rs35097680	0.90[AFR][1000 genomes]
rs3734512	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3734516	0.98[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs3757107	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs723402	0.96[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs930806	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs930807	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:40 , 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	chr6:74104400-74105000	Active TSS	Primary neutrophils fromperipheralblood	blood
9	chr6:74104400-74105000	Active TSS	Primary T cells fromperipheralblood	blood
10	chr6:74104400-74105000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr6:74104400-74105000	Active TSS	Pancreas	Pancrea
12	chr6:74104400-74105000	Active TSS	Rectal Mucosa Donor 31	rectum
13	chr6:74104400-74105000	Active TSS	Thymus	Thymus
14	chr6:74104600-74105000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr6:74104600-74105000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr6:74104600-74105000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr6:74104600-74105000	Active TSS	Breast Myoepithelial Primary Cells	Breast
18	chr6:74104600-74105000	Active TSS	Primary B cells from peripheral blood	blood
19	chr6:74104600-74105000	Active TSS	Primary T helper cells fromperipheralblood	blood
20	chr6:74104600-74105000	Active TSS	Primary T regulatory cells fromperipheralblood	blood
21	chr6:74104600-74105000	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
22	chr6:74104600-74105000	Active TSS	Primary T killer naive cells fromperipheralblood	blood
23	chr6:74104600-74105000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr6:74104600-74105000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr6:74104600-74105000	Active TSS	Adipose Nuclei	Adipose
26	chr6:74104600-74105000	Active TSS	Duodenum Mucosa	Duodenum
27	chr6:74104600-74105000	Active TSS	Pancreatic Islets	Pancreatic Islet
28	chr6:74104600-74105000	Bivalent/Poised TSS	Fetal Stomach	stomach
29	chr6:74104600-74105000	Active TSS	Right Ventricle	heart
30	chr6:74104600-74105000	Active TSS	Skeletal Muscle Male	skeletal muscle
31	chr6:74104600-74105000	Active TSS	HSMM	muscle
32	chr6:74104600-74105000	Active TSS	HSMMtube	muscle
33	chr6:74104600-74105000	Active TSS	HUVEC	blood vessel
34	chr6:74104600-74105000	Active TSS	NH-A	brain
35	chr6:74104600-74105000	Active TSS	NHLF	lung
36	chr6:74104600-74105000	Active TSS	Osteobl	bone
37	chr6:74104800-74105000	Bivalent/Poised TSS	Fetal Adrenal Gland	Adrenal Gland
38	chr6:74104800-74105000	Active TSS	Fetal Muscle Trunk	muscle
39	chr6:74104800-74105400	Active TSS	Placenta	Placenta
40	chr6:74104800-74109000	Weak transcription	Fetal Intestine Small	intestine

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