Variant report

Variant	rs372589964
Chromosome Location	chr1:94712525-94712526
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	POLR2A	chr1:94712130-94713689	ECC-1	luminal epithelium:	n/a	n/a
2	POLR2A	chr1:94712303-94712571	ProgFib	skin:	n/a	n/a
3	POLR2A	chr1:94712213-94712835	HCT-116	colon:	n/a	n/a
4	POLR2A	chr1:94712387-94712689	HepG2	liver:	n/a	n/a
5	CHD1	chr1:94712476-94713714	IMR90	lung:	n/a	n/a
6	CTCF	chr1:94712440-94712590	AG09319	gingival:	n/a	n/a
7	CTCF	chr1:94712380-94712530	AG09319	gingival:	n/a	n/a
8	SUZ12	chr1:94712231-94712997	H1-hESC	embryonic stem cell:	n/a	n/a
9	POLR2A	chr1:94710886-94713722	HUVEC	blood vessel:	n/a	n/a
10	NRF1	chr1:94712324-94713696	SK-N-SH	brain:	n/a	chr1:94713374-94713383 chr1:94713045-94713054
11	FOXA1	chr1:94712424-94712836	HepG2	liver:	n/a	n/a
12	POLR2A	chr1:94711220-94713680	HUVEC	blood vessel:	n/a	n/a
13	CTCF	chr1:94712500-94712650	HBMEC	blood vessel:	n/a	n/a
14	POLR2A	chr1:94711984-94713774	HUVEC	blood vessel:	n/a	n/a
15	MAZ	chr1:94711799-94713976	IMR90	lung:	n/a	n/a
16	POLR2A	chr1:94710334-94714607	PANC-1	pancreas:	n/a	n/a
17	POLR2A	chr1:94712123-94714017	HCT-116	colon:	n/a	n/a
18	CTBP2	chr1:94712518-94713479	H1-hESC	embryonic stem cell:	n/a	n/a
19	TCF7L2	chr1:94712238-94713838	HCT-116	colon:	n/a	n/a
20	POLR2A	chr1:94710993-94713638	HUVEC	blood vessel:	n/a	n/a
21	FOXA2	chr1:94712466-94712776	HepG2	liver:	n/a	n/a
22	POLR2A	chr1:94712051-94714080	HCT-116	colon:	n/a	n/a
23	POLR2A	chr1:94710704-94713682	HUVEC	blood vessel:	n/a	n/a
24	ZNF263	chr1:94712140-94712811	HEK293-T-REx	kidney:	n/a	chr1:94712479-94712488
25	POLR2A	chr1:94710307-94712948	PANC-1	pancreas:	n/a	n/a
26	POLR2A	chr1:94712189-94712581	HUVEC	blood vessel:	n/a	n/a
27	SIN3A	chr1:94712311-94713751	H1-hESC	embryonic stem cell:	n/a	chr1:94712958-94712967 chr1:94713434-94713445
28	POLR2A	chr1:94712333-94712691	MCF10A-Er-Src	breast:	n/a	n/a

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: 4 )
Associated
traits (count: 0)

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:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:94709800-94712800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr1:94709800-94713600	Active TSS	Right Atrium	heart
3	chr1:94710000-94713600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr1:94711000-94713400	Active TSS	Muscle Satellite Cultured Cells	--
5	chr1:94711000-94713800	Active TSS	Psoas Muscle	Psoas
6	chr1:94711200-94713800	Active TSS	Left Ventricle	heart
7	chr1:94711200-94713800	Active TSS	Right Ventricle	heart
8	chr1:94711400-94713000	Bivalent/Poised TSS	Fetal Kidney	kidney
9	chr1:94711400-94713600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr1:94711600-94713400	Active TSS	NHEK	skin
11	chr1:94711600-94713600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr1:94711600-94713600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr1:94711600-94713600	Active TSS	A549	lung
14	chr1:94711600-94713600	Active TSS	NHDF-Ad	bronchial
15	chr1:94711600-94713600	Active TSS	Osteobl	bone
16	chr1:94711800-94712800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr1:94711800-94713200	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
18	chr1:94711800-94713400	Active TSS	HMEC	breast
19	chr1:94711800-94713400	Active TSS	HUVEC	blood vessel
20	chr1:94711800-94713400	Active TSS	NH-A	brain
21	chr1:94711800-94713600	Active TSS	Breast Myoepithelial Primary Cells	Breast
22	chr1:94711800-94713600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr1:94711800-94713800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr1:94712000-94713600	Active TSS	HSMM	muscle
25	chr1:94712000-94714000	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr1:94712000-94714000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
27	chr1:94712200-94712600	Bivalent Enhancer	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr1:94712200-94712600	Flanking Bivalent TSS/Enh	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr1:94712200-94712600	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
30	chr1:94712200-94712600	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr1:94712200-94712600	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
32	chr1:94712200-94712600	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
33	chr1:94712200-94712600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr1:94712200-94712600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr1:94712200-94712600	Flanking Active TSS	Liver	Liver
36	chr1:94712200-94712600	Bivalent Enhancer	Brain Germinal Matrix	brain
37	chr1:94712200-94712600	Flanking Active TSS	Pancreas	Pancrea
38	chr1:94712200-94712600	Flanking Active TSS	Placenta Amnion	Placenta Amnion
39	chr1:94712200-94712600	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
40	chr1:94712200-94712600	Active TSS	Stomach Smooth Muscle	stomach
41	chr1:94712200-94712600	Flanking Active TSS	HepG2	liver
42	chr1:94712200-94712600	Flanking Active TSS	HSMMtube	muscle
43	chr1:94712200-94712600	Flanking Active TSS	NHLF	lung
44	chr1:94712200-94712800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr1:94712200-94712800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr1:94712200-94712800	Flanking Active TSS	Adipose Nuclei	Adipose
47	chr1:94712200-94712800	Bivalent/Poised TSS	Brain Angular Gyrus	brain
48	chr1:94712200-94712800	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
49	chr1:94712200-94712800	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
50	chr1:94712200-94712800	Active TSS	Fetal Heart	heart

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