Variant report

Variant	rs60789611
Chromosome Location	chr1:45809407-45809408
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:19)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:19 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:45809102-45809414	GM12878	blood:	n/a	n/a
2	POLR2A	chr1:45808960-45809522	K562	blood:	n/a	n/a
3	POLR2A	chr1:45808929-45809537	H1-hESC	embryonic stem cell:	n/a	n/a
4	POLR2A	chr1:45808528-45809614	K562	blood:	n/a	n/a
5	POLR2A	chr1:45809035-45809563	Hela-S3	cervix:	n/a	n/a
6	POLR2A	chr1:45808356-45809538	GM12892	blood:	n/a	n/a
7	POLR2A	chr1:45804434-45809548	GM12892	blood:	n/a	n/a
8	POLR2A	chr1:45809048-45809557	K562	blood:	n/a	n/a
9	POLR2A	chr1:45807583-45809497	K562	blood:	n/a	n/a
10	HEY1	chr1:45808930-45809485	K562	blood:	n/a	n/a
11	POLR2A	chr1:45809039-45809504	HepG2	liver:	n/a	n/a
12	POLR2A	chr1:45808826-45809428	GM12878	blood:	n/a	n/a
13	POLR2A	chr1:45807641-45812993	K562	blood:	n/a	n/a
14	USF2	chr1:45809387-45809541	Hela-S3	cervix:	n/a	n/a
15	POLR2A	chr1:45804394-45809600	GM12878	blood:	n/a	n/a
16	POLR2A	chr1:45809169-45809435	H1-hESC	embryonic stem cell:	n/a	n/a
17	POLR2A	chr1:45808878-45809571	GM12891	blood:	n/a	n/a
18	POLR2A	chr1:45809167-45809586	HepG2	liver:	n/a	n/a
19	POLR2A	chr1:45807485-45809469	H1-hESC	embryonic stem cell:	n/a	n/a

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:45291869..45293559-chr1:45808608..45811445,2	K562	blood:
2	chr1:45277516..45280158-chr1:45807103..45809533,2	K562	blood:
3	chr1:45283441..45287322-chr1:45806283..45809735,5	K562	blood:
4	chr1:45807846..45810549-chr1:45838820..45841391,2	K562	blood:
5	chr1:45185285..45189072-chr1:45803209..45809453,10	K562	blood:
6	chr1:45807889..45809895-chr1:45955917..45958693,3	K562	blood:
7	chr1:45768289..45770936-chr1:45808529..45810402,2	K562	blood:
8	chr1:45808264..45809895-chr1:45955917..45958693,2	K562	blood:
9	chr1:45478184..45480148-chr1:45807108..45810233,3	K562	blood:
10	chr1:45482345..45484376-chr1:45808953..45810497,2	K562	blood:
11	chr1:45485526..45487934-chr1:45807215..45810160,2	K562	blood:
12	chr1:45478234..45481000-chr1:45809377..45813854,5	K562	blood:
13	chr1:45241751..45244624-chr1:45808053..45809788,2	K562	blood:

No data

Variant related genes	Relation type
MUTYH	TF binding region
ENSG00000202444	Chromatin interaction
ENSG00000207421	Chromatin interaction
ENSG00000070759	Chromatin interaction
ENSG00000200913	Chromatin interaction
ENSG00000222009	Chromatin interaction
ENSG00000199377	Chromatin interaction
ENSG00000126088	Chromatin interaction
ENSG00000142937	Chromatin interaction
ENSG00000202031	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1007005	1.00[AMR][1000 genomes]
rs1561794	1.00[AMR][1000 genomes]
rs1892476	1.00[AMR][1000 genomes]
rs2211646	1.00[AMR][1000 genomes]
rs3219497	1.00[AMR][1000 genomes]
rs58600794	1.00[AMR][1000 genomes]
rs58829168	1.00[AMR][1000 genomes]
rs59089628	1.00[AMR][1000 genomes]
rs59351600	1.00[AMR][1000 genomes]
rs59975097	1.00[AMR][1000 genomes]
rs72890576	1.00[AMR][1000 genomes]
rs72890601	1.00[AMR][1000 genomes]
rs72892514	1.00[AMR][1000 genomes]
rs72892526	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv498036	chr1:45428030-46050934	Active TSS Enhancers Flanking Active TSS Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	191 gene(s)	inside rSNPs	diseases
2	nsv1014509	chr1:45687523-45887501	Flanking Active TSS Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
3	nsv997548	chr1:45733596-45955845	Genic enhancers Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
4	nsv534942	chr1:45733596-45955845	Weak transcription Enhancers Active TSS Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
5	nsv482356	chr1:45750459-45915545	Enhancers Genic enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
6	esv2750837	chr1:45796115-45908263	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 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	chr1:45806600-45821600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr1:45807200-45811000	Strong transcription	H9 Cell Line	embryonic stem cell
3	chr1:45807200-45811200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr1:45807200-45811200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr1:45807200-45812600	Strong transcription	HUES48 Cell Line	embryonic stem cell
6	chr1:45807200-45812800	Strong transcription	HUES6 Cell Line	embryonic stem cell
7	chr1:45807200-45812800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr1:45807200-45814200	Weak transcription	Fetal Brain Male	brain
9	chr1:45807200-45825800	Weak transcription	Small Intestine	intestine
10	chr1:45807400-45809600	Strong transcription	Fetal Lung	lung
11	chr1:45807400-45810000	Strong transcription	Placenta	Placenta
12	chr1:45807400-45810800	Strong transcription	NHLF	lung
13	chr1:45807400-45811000	Strong transcription	HSMM	muscle
14	chr1:45807400-45811200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr1:45807400-45811200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
16	chr1:45807400-45811200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
17	chr1:45807400-45811600	Strong transcription	A549	lung
18	chr1:45807400-45812400	Strong transcription	HUES64 Cell Line	embryonic stem cell
19	chr1:45807400-45812800	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr1:45807400-45813000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr1:45807400-45813600	Weak transcription	NHDF-Ad	bronchial
22	chr1:45807600-45810200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr1:45807600-45810400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr1:45807600-45810600	Strong transcription	Pancreas	Pancrea
25	chr1:45807600-45811000	Strong transcription	NH-A	brain
26	chr1:45807600-45811200	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr1:45807600-45811200	Strong transcription	iPS-15b Cell Line	embryonic stem cell
28	chr1:45807600-45811200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr1:45807600-45811200	Strong transcription	Ovary	ovary
30	chr1:45807600-45811600	Strong transcription	Cortex derived primary cultured neurospheres	brain
31	chr1:45807600-45812000	Strong transcription	Fetal Muscle Leg	muscle
32	chr1:45807600-45812200	Strong transcription	H1 Cell Line	embryonic stem cell
33	chr1:45807600-45812600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr1:45807600-45812800	Strong transcription	Rectal Mucosa Donor 31	rectum
35	chr1:45807600-45813400	Weak transcription	Right Atrium	heart
36	chr1:45807800-45810200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr1:45807800-45810600	Strong transcription	Muscle Satellite Cultured Cells	--
38	chr1:45807800-45810600	Strong transcription	Left Ventricle	heart
39	chr1:45807800-45810600	Strong transcription	HMEC	breast
40	chr1:45807800-45810800	Strong transcription	Colon Smooth Muscle	Colon
41	chr1:45807800-45811000	Strong transcription	Aorta	Aorta
42	chr1:45807800-45811000	Weak transcription	Pancreatic Islets	Pancreatic Islet
43	chr1:45807800-45811000	Strong transcription	Osteobl	bone
44	chr1:45807800-45811200	Strong transcription	Brain Germinal Matrix	brain
45	chr1:45807800-45811200	Strong transcription	Esophagus	oesophagus
46	chr1:45807800-45811600	Strong transcription	NHEK	skin
47	chr1:45807800-45811800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr1:45807800-45812000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr1:45807800-45812200	Strong transcription	Brain Substantia Nigra	brain
50	chr1:45807800-45812200	Strong transcription	Duodenum Smooth Muscle	Duodenum

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