Variant report

Variant	rs563966482
Chromosome Location	chr1:193074936-193074937
allele	C/G
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	TBP	chr1:193073893-193074958	HepG2	liver:	n/a	n/a
2	POLR2A	chr1:193074122-193074983	SK-N-MC	brain:	n/a	n/a
3	MYC	chr1:193073759-193075192	A549	lung:	n/a	n/a
4	POLR2A	chr1:193073557-193074953	U87	brain:	n/a	n/a
5	SIN3AK20	chr1:193073210-193075235	MCF-7	breast:	n/a	n/a
6	YY1	chr1:193074340-193074956	K562	blood:	n/a	chr1:193074626-193074640 chr1:193074628-193074637 chr1:193074631-193074640
7	MAX	chr1:193073566-193074970	K562	blood:	n/a	n/a
8	GATA3	chr1:193074315-193075239	MCF-7	breast:	n/a	chr1:193074749-193074757
9	RAD21	chr1:193074092-193074938	SK-N-SH_RA	brain:	n/a	chr1:193074208-193074221 chr1:193074210-193074222
10	TCF7L2	chr1:193073426-193074964	Hela-S3	cervix:	n/a	n/a
11	POLR2A	chr1:193074109-193074971	K562	blood:	n/a	n/a
12	ZBTB33	chr1:193074321-193074987	HCT-116	colon:	n/a	n/a
13	POLR2A	chr1:193073588-193074948	GM12892	blood:	n/a	n/a
14	POLR2A	chr1:193073728-193075024	PANC-1	pancreas:	n/a	n/a
15	GABPA	chr1:193074278-193074955	MCF-7	breast:	n/a	n/a
16	GATA3	chr1:193074320-193074960	T-47D	breast:	n/a	chr1:193074749-193074757
17	TBL1XR1	chr1:193073521-193074969	K562	blood:	n/a	n/a
18	TAF1	chr1:193074084-193075069	MCF-7	breast:	n/a	n/a
19	CEBPB	chr1:193074767-193075063	HepG2	liver:	n/a	n/a
20	JUND	chr1:193072918-193075266	K562	blood:	n/a	chr1:193074257-193074265 chr1:193074257-193074264 chr1:193073875-193073886 chr1:193074257-193074265 chr1:193074255-193074266
21	CTCF	chr1:193073643-193075061	K562	blood:	n/a	chr1:193073791-193073799
22	MYC	chr1:193073742-193074939	MCF10A-Er-Src	breast:	n/a	n/a
23	SP1	chr1:193073784-193075297	A549	lung:	n/a	chr1:193074307-193074314
24	SMC3	chr1:193073372-193074984	Hela-S3	cervix:	n/a	n/a
25	MYBL2	chr1:193074514-193074945	HepG2	liver:	n/a	n/a
26	HDAC2	chr1:193074411-193075016	MCF-7	breast:	n/a	n/a
27	POLR2A	chr1:193074095-193074939	A549	lung:	n/a	n/a
28	TEAD4	chr1:193074594-193074955	HepG2	liver:	n/a	n/a
29	FOXA1	chr1:193074457-193074951	T-47D	breast:	n/a	n/a
30	TAL1	chr1:193074349-193075100	K562	blood:	n/a	n/a
31	REST	chr1:193073793-193075140	A549	lung:	n/a	chr1:193074316-193074329
32	EP300	chr1:193073190-193075197	K562	blood:	n/a	chr1:193074257-193074266 chr1:193074632-193074641 chr1:193073821-193073835
33	IRF1	chr1:193074345-193075045	K562	blood:	n/a	n/a
34	GATA2	chr1:193072961-193074974	SH-SY5Y	brain:	n/a	chr1:193073929-193073939 chr1:193073037-193073048
35	ELF1	chr1:193073380-193075046	MCF-7	breast:	n/a	chr1:193074631-193074640 chr1:193074317-193074329 chr1:193073820-193073831 chr1:193073819-193073832
36	PML	chr1:193074201-193075083	K562	blood:	n/a	chr1:193074255-193074264
37	CREB1	chr1:193074032-193074945	H1-hESC	embryonic stem cell:	n/a	n/a
38	MAX	chr1:193073536-193075104	A549	lung:	n/a	n/a
39	CHD1	chr1:193072871-193075496	IMR90	lung:	n/a	n/a
40	BRCA1	chr1:193073541-193074946	Hela-S3	cervix:	n/a	n/a
41	ZNF384	chr1:193074182-193075626	K562	blood:	n/a	n/a
42	GATA3	chr1:193074504-193074944	T-47D	breast:	n/a	chr1:193074749-193074757
43	POLR2A	chr1:193073781-193075030	Raji	blood:	n/a	n/a
44	POLR2A	chr1:193073994-193074947	HepG2	liver:	n/a	n/a
45	STAT3	chr1:193074731-193075193	MCF10A-Er-Src	breast:	n/a	n/a
46	PML	chr1:193074009-193074984	MCF-7	breast:	n/a	chr1:193074255-193074264
47	RAD21	chr1:193073158-193075129	IMR90	lung:	n/a	chr1:193074208-193074221 chr1:193074210-193074222
48	TAF1	chr1:193074396-193074939	GM12891	blood:	n/a	n/a
49	YY1	chr1:193074272-193074943	GM12878	blood:	n/a	chr1:193074626-193074640 chr1:193074628-193074637 chr1:193074631-193074640
50	CEBPB	chr1:193074839-193075260	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:193074180..193075233-chr1:193090769..193091716,3	Hela-S3	cervix:
2	chr1:193026932..193030661-chr1:193071909..193075798,10	K562	blood:
3	chr1:193074370..193075056-chr3:48884837..48885676,2	HCT-116	colon:
4	chr1:193074126..193075410-chr1:193090821..193091752,7	MCF-7	breast:
5	chr1:193027166..193030257-chr1:193073439..193079424,9	MCF-7	breast:
6	chr1:193073789..193075142-chr1:193090301..193091722,13	MCF-7	breast:
7	chr1:193074299..193075126-chr1:193090691..193091321,4	K562	blood:
8	chr1:193074393..193075094-chr14:50234850..50235604,2	Hela-S3	cervix:
9	chr1:193071213..193080146-chr1:193088491..193094639,51	MCF-7	breast:
10	chr1:193020543..193046917-chr1:193069266..193098746,125	K562	blood:
11	chr1:193074307..193075074-chr1:193090815..193091851,7	MCF-7	breast:
12	chr1:193071491..193076891-chr1:193086924..193094906,44	MCF-7	breast:
13	chr1:193027586..193031673-chr1:193072686..193075563,11	MCF-7	breast:
14	chr1:193074044..193075993-chr1:193105270..193107522,3	MCF-7	breast:
15	chr1:193074228..193075188-chr11:10326227..10327050,2	Hela-S3	cervix:
16	chr1:193074533..193075156-chr6:99395273..99395964,2	Hela-S3	cervix:
17	chr1:193033762..193041249-chr1:193071629..193075233,8	K562	blood:
18	chr1:193060114..193062197-chr1:193073397..193075467,2	MCF-7	breast:
19	chr1:193073395..193075181-chr1:193090593..193091565,9	MCF-7	breast:
20	chr1:193073518..193075825-chr16:84536562..84538522,2	MCF-7	breast:

Variant related genes	Relation type
GLRX2	TF binding region
ENSG00000238754	Chromatin interaction
ENSG00000112234	Chromatin interaction
ENSG00000114302	Chromatin interaction
ENSG00000224424	Chromatin interaction
ENSG00000134371	Chromatin interaction
ENSG00000272579	Chromatin interaction
ENSG00000140950	Chromatin interaction
ENSG00000116750	Chromatin interaction
ENSG00000116747	Chromatin interaction
ENSG00000165516	Chromatin interaction
ENSG00000148926	Chromatin interaction
ENSG00000221680	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532618	chr1:192537006-193149179	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
2	nsv1002094	chr1:192968080-193084045	Flanking Active TSS Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	esv3336724	chr1:193074336-193075716	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:193073000-193075000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr1:193073000-193075000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr1:193073000-193075400	Active TSS	Pancreatic Islets	Pancreatic Islet
4	chr1:193073000-193075400	Active TSS	Rectal Mucosa Donor 29	rectum
5	chr1:193073200-193075000	Flanking Active TSS	Primary B cells from cord blood	blood
6	chr1:193073200-193075000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr1:193073200-193075000	Active TSS	Aorta	Aorta
8	chr1:193073200-193075000	Active TSS	Colonic Mucosa	Colon
9	chr1:193073200-193075000	Active TSS	Esophagus	oesophagus
10	chr1:193073200-193075000	Active TSS	Fetal Kidney	kidney
11	chr1:193073200-193075000	Active TSS	Fetal Muscle Trunk	muscle
12	chr1:193073200-193075000	Active TSS	Left Ventricle	heart
13	chr1:193073200-193075000	Active TSS	Ovary	ovary
14	chr1:193073200-193075000	Active TSS	Psoas Muscle	Psoas
15	chr1:193073200-193075000	Active TSS	Right Atrium	heart
16	chr1:193073200-193075200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
17	chr1:193073200-193075200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr1:193073200-193075400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr1:193073200-193075400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr1:193073200-193075400	Active TSS	Brain Germinal Matrix	brain
21	chr1:193073400-193075000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr1:193073400-193075000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr1:193073400-193075000	Active TSS	H9 Cell Line	embryonic stem cell
24	chr1:193073400-193075000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr1:193073400-193075000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr1:193073400-193075000	Active TSS	Brain Inferior Temporal Lobe	brain
27	chr1:193073400-193075000	Active TSS	Brain Substantia Nigra	brain
28	chr1:193073400-193075000	Active TSS	Pancreas	Pancrea
29	chr1:193073400-193075000	Active TSS	Placenta Amnion	Placenta Amnion
30	chr1:193073400-193075000	Active TSS	Stomach Mucosa	stomach
31	chr1:193073400-193075000	Active TSS	A549	lung
32	chr1:193073400-193075000	Active TSS	HSMM	muscle
33	chr1:193073400-193075200	Active TSS	Breast Myoepithelial Primary Cells	Breast
34	chr1:193073400-193075200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr1:193073400-193075200	Active TSS	Rectal Smooth Muscle	rectum
36	chr1:193073400-193075200	Active TSS	Right Ventricle	heart
37	chr1:193073400-193075200	Active TSS	HSMMtube	muscle
38	chr1:193073400-193075400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
39	chr1:193073600-193075000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr1:193073600-193075000	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr1:193073600-193075000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr1:193073600-193075000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr1:193073600-193075000	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
44	chr1:193073600-193075000	Active TSS	Primary T killer memory cells from peripheral blood	blood
45	chr1:193073600-193075000	Active TSS	Colon Smooth Muscle	Colon
46	chr1:193073600-193075000	Active TSS	Duodenum Smooth Muscle	Duodenum
47	chr1:193073600-193075000	Active TSS	Fetal Intestine Large	intestine
48	chr1:193073600-193075000	Active TSS	Placenta	Placenta
49	chr1:193073600-193075000	Active TSS	Stomach Smooth Muscle	stomach
50	chr1:193073600-193075000	Active TSS	GM12878-XiMat	blood

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