Variant report

Variant	rs569844073
Chromosome Location	chr1:94703279-94703280
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	chr1:94702337-94703606	ECC-1	luminal epithelium:	n/a	n/a
2	POLR2A	chr1:94702472-94703596	Hela-S3	cervix:	n/a	n/a
3	SIN3AK20	chr1:94702521-94703510	PANC-1	pancreas:	n/a	n/a
4	NFYA	chr1:94703123-94703420	Hela-S3	cervix:	n/a	n/a
5	MAX	chr1:94702969-94703536	MCF-7	breast:	n/a	n/a
6	TAF1	chr1:94702983-94703456	H1-hESC	embryonic stem cell:	n/a	n/a
7	POLR2A	chr1:94701725-94703513	ProgFib	skin:	n/a	n/a
8	POLR2A	chr1:94702784-94703544	A549	lung:	n/a	n/a
9	POLR2A	chr1:94702878-94703464	A549	lung:	n/a	n/a
10	MAX	chr1:94703086-94703500	A549	lung:	n/a	n/a
11	POLR2A	chr1:94702667-94703503	HUVEC	blood vessel:	n/a	n/a
12	YY1	chr1:94703070-94703717	H1-hESC	embryonic stem cell:	n/a	n/a
13	NFYB	chr1:94703145-94703283	Hela-S3	cervix:	n/a	chr1:94703214-94703229
14	POLR2A	chr1:94702919-94703460	HepG2	liver:	n/a	n/a
15	E2F4	chr1:94703041-94703468	MCF10A-Er-Src	breast:	n/a	n/a
16	TAF1	chr1:94702926-94703439	SK-N-SH	brain:	n/a	n/a
17	RAD21	chr1:94703265-94703577	H1-hESC	embryonic stem cell:	n/a	chr1:94703361-94703371
18	POLR2A	chr1:94702439-94703562	MCF10A-Er-Src	breast:	n/a	n/a
19	YY1	chr1:94702876-94703744	ECC-1	luminal epithelium:	n/a	chr1:94703021-94703035 chr1:94702933-94702942 chr1:94703021-94703030
20	RCOR1	chr1:94703047-94703293	K562	blood:	n/a	n/a
21	MAFK	chr1:94703199-94703450	Hela-S3	cervix:	n/a	n/a
22	POLR2A	chr1:94702081-94703654	HUVEC	blood vessel:	n/a	n/a
23	POLR2A	chr1:94703221-94703503	H1-hESC	embryonic stem cell:	n/a	n/a
24	ELK1	chr1:94703244-94703296	Hela-S3	cervix:	n/a	n/a
25	POLR2A	chr1:94703164-94703489	H1-hESC	embryonic stem cell:	n/a	n/a
26	POLR2A	chr1:94702909-94703531	PFSK-1	brain:	n/a	n/a
27	REST	chr1:94702840-94703402	ECC-1	luminal epithelium:	n/a	chr1:94703315-94703322 chr1:94702874-94702887
28	MXI1	chr1:94702340-94703484	HepG2	liver:	n/a	chr1:94702422-94702431
29	RAD21	chr1:94703034-94703723	HepG2	liver:	n/a	chr1:94703361-94703371
30	TAF1	chr1:94703063-94703445	Hela-S3	cervix:	n/a	n/a
31	NFIC	chr1:94702698-94703520	ECC-1	luminal epithelium:	n/a	n/a
32	POLR2A	chr1:94702902-94703530	HEK293	kidney:	n/a	n/a
33	MYC	chr1:94703201-94703396	MCF-7	breast:	n/a	n/a
34	POLR2A	chr1:94702920-94703501	Hela-S3	cervix:	n/a	n/a
35	CREB1	chr1:94702943-94703626	H1-hESC	embryonic stem cell:	n/a	n/a
36	RAD21	chr1:94702215-94703729	H1-hESC	embryonic stem cell:	n/a	chr1:94702424-94702436 chr1:94703361-94703371
37	TAF7	chr1:94703042-94703501	H1-hESC	embryonic stem cell:	n/a	n/a
38	HEY1	chr1:94702966-94703503	HepG2	liver:	n/a	n/a
39	MAX	chr1:94702330-94703530	Hela-S3	cervix:	n/a	n/a
40	POLR2A	chr1:94702245-94703824	ECC-1	luminal epithelium:	n/a	n/a
41	REST	chr1:94702900-94703483	HepG2	liver:	n/a	chr1:94703315-94703322
42	MAX	chr1:94702301-94703586	ECC-1	luminal epithelium:	n/a	n/a
43	TCF12	chr1:94702730-94703588	ECC-1	luminal epithelium:	n/a	n/a
44	CREB1	chr1:94702378-94703584	HepG2	liver:	n/a	n/a
45	MXI1	chr1:94701410-94703664	IMR90	lung:	n/a	chr1:94702422-94702431
46	ZBTB33	chr1:94702945-94703562	HCT-116	colon:	n/a	n/a
47	POLR2A	chr1:94702828-94703507	HepG2	liver:	n/a	n/a
48	POLR2A	chr1:94702946-94703516	Hela-S3	cervix:	n/a	n/a
49	BRCA1	chr1:94703266-94703466	Hela-S3	cervix:	n/a	n/a
50	EP300	chr1:94702942-94703364	SK-N-SH_RA	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:94526735..94527649-chr1:94702636..94703585,3	MCF-7	breast:

Variant related genes	Relation type
ARHGAP29	TF binding region
ENSG00000198691	Chromatin interaction

Extended variants
information (count: 1 )
Associated
traits (count: 0)

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3326788	chr1:94701989-94704537	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:94699200-94703600	Active TSS	Breast Myoepithelial Primary Cells	Breast
2	chr1:94699600-94703800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr1:94699800-94703400	Active TSS	HMEC	breast
4	chr1:94700200-94703600	Active TSS	Skeletal Muscle Male	skeletal muscle
5	chr1:94700600-94703400	Active TSS	Muscle Satellite Cultured Cells	--
6	chr1:94700600-94703800	Active TSS	Right Atrium	heart
7	chr1:94700800-94703400	Active TSS	Stomach Smooth Muscle	stomach
8	chr1:94700800-94703600	Active TSS	NHLF	lung
9	chr1:94700800-94703800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr1:94701000-94703400	Active TSS	Fetal Muscle Trunk	muscle
11	chr1:94701000-94703400	Active TSS	NHEK	skin
12	chr1:94701000-94703600	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr1:94701000-94703600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr1:94701000-94703600	Active TSS	NHDF-Ad	bronchial
15	chr1:94701000-94703800	Active TSS	Psoas Muscle	Psoas
16	chr1:94701000-94703800	Active TSS	Right Ventricle	heart
17	chr1:94701000-94704000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
18	chr1:94701200-94703400	Active TSS	Fetal Heart	heart
19	chr1:94701200-94703600	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr1:94701200-94703600	Active TSS	HSMM	muscle
21	chr1:94701200-94703600	Active TSS	HSMMtube	muscle
22	chr1:94701200-94703800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr1:94701200-94703800	Active TSS	Pancreatic Islets	Pancreatic Islet
24	chr1:94701200-94703800	Active TSS	Left Ventricle	heart
25	chr1:94701400-94703400	Active TSS	Pancreas	Pancrea
26	chr1:94701400-94703400	Active TSS	HUVEC	blood vessel
27	chr1:94701400-94703400	Active TSS	NH-A	brain
28	chr1:94701400-94703600	Active TSS	Lung	lung
29	chr1:94701400-94703600	Active TSS	Ovary	ovary
30	chr1:94701400-94703600	Active TSS	A549	lung
31	chr1:94701400-94703800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr1:94701600-94703600	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
33	chr1:94701600-94703600	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
34	chr1:94701600-94703600	Active TSS	Placenta Amnion	Placenta Amnion
35	chr1:94701600-94703800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr1:94701600-94704000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
37	chr1:94701800-94703400	Active TSS	Esophagus	oesophagus
38	chr1:94701800-94703600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr1:94701800-94703600	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
40	chr1:94701800-94703600	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
41	chr1:94701800-94703800	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
42	chr1:94701800-94703800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr1:94701800-94704000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
44	chr1:94701800-94704000	Bivalent/Poised TSS	Colon Smooth Muscle	Colon
45	chr1:94702000-94703400	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
46	chr1:94702000-94703400	Active TSS	Liver	Liver
47	chr1:94702000-94703400	Active TSS	Osteobl	bone
48	chr1:94702000-94703600	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr1:94702000-94703600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
50	chr1:94702000-94703600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood

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