Variant report

Variant	rs72964308
Chromosome Location	chr1:94712322-94712323
allele	C/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	POLR2A	chr1:94712130-94713689	ECC-1	luminal epithelium:	n/a	n/a
2	BACH1	chr1:94712282-94712482	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr1:94712303-94712571	ProgFib	skin:	n/a	n/a
4	POLR2A	chr1:94712213-94712835	HCT-116	colon:	n/a	n/a
5	POLR2A	chr1:94712288-94712362	HepG2	liver:	n/a	n/a
6	SUZ12	chr1:94712231-94712997	H1-hESC	embryonic stem cell:	n/a	n/a
7	POLR2A	chr1:94710886-94713722	HUVEC	blood vessel:	n/a	n/a
8	POLR2A	chr1:94711220-94713680	HUVEC	blood vessel:	n/a	n/a
9	POLR2A	chr1:94711984-94713774	HUVEC	blood vessel:	n/a	n/a
10	MAZ	chr1:94711799-94713976	IMR90	lung:	n/a	n/a
11	POLR2A	chr1:94710334-94714607	PANC-1	pancreas:	n/a	n/a
12	POLR2A	chr1:94712123-94714017	HCT-116	colon:	n/a	n/a
13	TCF7L2	chr1:94712238-94713838	HCT-116	colon:	n/a	n/a
14	POLR2A	chr1:94710993-94713638	HUVEC	blood vessel:	n/a	n/a
15	POLR2A	chr1:94712051-94714080	HCT-116	colon:	n/a	n/a
16	POLR2A	chr1:94710704-94713682	HUVEC	blood vessel:	n/a	n/a
17	ZNF263	chr1:94712140-94712811	HEK293-T-REx	kidney:	n/a	chr1:94712479-94712488
18	POLR2A	chr1:94710307-94712948	PANC-1	pancreas:	n/a	n/a
19	POLR2A	chr1:94712189-94712581	HUVEC	blood vessel:	n/a	n/a
20	SIN3A	chr1:94712311-94713751	H1-hESC	embryonic stem cell:	n/a	chr1:94712958-94712967 chr1:94713434-94713445

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:94701840..94705805-chr1:94711160..94713439,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000231363	TF binding region
ENSG00000137962	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs17111203	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs17111218	0.82[EUR][1000 genomes]
rs17111236	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17396055	0.95[ASN][1000 genomes]
rs17400584	0.95[ASN][1000 genomes]
rs2130896	0.95[ASN][1000 genomes]
rs55937938	0.95[ASN][1000 genomes]
rs72962367	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72962392	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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	nsv428510	chr1:94709575-94866655	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	esv3376734	chr1:94711789-94714337	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	esv3450788	chr1:94712164-94714562	Bivalent Enhancer Active TSS Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	esv3356061	chr1:94712189-94714737	Enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:94709800-94712400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr1:94709800-94712800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr1:94709800-94713600	Active TSS	Right Atrium	heart
4	chr1:94710000-94713600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr1:94711000-94712400	Active TSS	Skeletal Muscle Male	skeletal muscle
6	chr1:94711000-94713400	Active TSS	Muscle Satellite Cultured Cells	--
7	chr1:94711000-94713800	Active TSS	Psoas Muscle	Psoas
8	chr1:94711200-94713800	Active TSS	Left Ventricle	heart
9	chr1:94711200-94713800	Active TSS	Right Ventricle	heart
10	chr1:94711400-94713000	Bivalent/Poised TSS	Fetal Kidney	kidney
11	chr1:94711400-94713600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr1:94711600-94713400	Active TSS	NHEK	skin
13	chr1:94711600-94713600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr1:94711600-94713600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr1:94711600-94713600	Active TSS	A549	lung
16	chr1:94711600-94713600	Active TSS	NHDF-Ad	bronchial
17	chr1:94711600-94713600	Active TSS	Osteobl	bone
18	chr1:94711800-94712800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr1:94711800-94713200	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
20	chr1:94711800-94713400	Active TSS	HMEC	breast
21	chr1:94711800-94713400	Active TSS	HUVEC	blood vessel
22	chr1:94711800-94713400	Active TSS	NH-A	brain
23	chr1:94711800-94713600	Active TSS	Breast Myoepithelial Primary Cells	Breast
24	chr1:94711800-94713600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr1:94711800-94713800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr1:94712000-94712400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
27	chr1:94712000-94712400	Bivalent/Poised TSS	Fetal Muscle Trunk	muscle
28	chr1:94712000-94713600	Active TSS	HSMM	muscle
29	chr1:94712000-94714000	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr1:94712000-94714000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
31	chr1:94712200-94712400	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
32	chr1:94712200-94712400	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
33	chr1:94712200-94712400	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
34	chr1:94712200-94712400	Bivalent Enhancer	Primary hematopoietic stem cells	blood
35	chr1:94712200-94712400	Bivalent/Poised TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr1:94712200-94712400	Bivalent/Poised TSS	Brain Anterior Caudate	brain
37	chr1:94712200-94712400	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
38	chr1:94712200-94712400	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
39	chr1:94712200-94712400	Bivalent/Poised TSS	Brain Substantia Nigra	brain
40	chr1:94712200-94712400	Flanking Bivalent TSS/Enh	Fetal Intestine Large	intestine
41	chr1:94712200-94712400	Bivalent/Poised TSS	Fetal Lung	lung
42	chr1:94712200-94712400	Flanking Active TSS	Placenta	Placenta
43	chr1:94712200-94712400	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
44	chr1:94712200-94712400	Active TSS	Rectal Smooth Muscle	rectum
45	chr1:94712200-94712400	Enhancers	Hela-S3	cervix
46	chr1:94712200-94712600	Bivalent Enhancer	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr1:94712200-94712600	Flanking Bivalent TSS/Enh	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr1:94712200-94712600	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
49	chr1:94712200-94712600	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr1:94712200-94712600	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood

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