Variant report

Variant	rs200632315
Chromosome Location	chr1:193074805-193074806
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:370)
CpG islands
(count:122)
Chromatin interactive
region (count:25)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:370 , 50 per page) page: 1 2 3 4 5 6 7 8

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	RAD21	chr1:193073791-193074890	A549	lung:	n/a	chr1:193074208-193074221 chr1:193074210-193074222
3	POLR2A	chr1:193074122-193074983	SK-N-MC	brain:	n/a	n/a
4	MYC	chr1:193073759-193075192	A549	lung:	n/a	n/a
5	RELA	chr1:193073679-193074921	GM15510	blood:	n/a	n/a
6	POLR2A	chr1:193073557-193074953	U87	brain:	n/a	n/a
7	BHLHE40	chr1:193074475-193074847	HepG2	liver:	n/a	n/a
8	SIN3AK20	chr1:193073210-193075235	MCF-7	breast:	n/a	n/a
9	YY1	chr1:193074340-193074956	K562	blood:	n/a	chr1:193074626-193074640 chr1:193074628-193074637 chr1:193074631-193074640
10	MAX	chr1:193073566-193074970	K562	blood:	n/a	n/a
11	POLR2A	chr1:193073608-193074935	HUVEC	blood vessel:	n/a	n/a
12	POLR2A	chr1:193074030-193074830	GM12891	blood:	n/a	n/a
13	GATA3	chr1:193074315-193075239	MCF-7	breast:	n/a	chr1:193074749-193074757
14	RAD21	chr1:193074092-193074938	SK-N-SH_RA	brain:	n/a	chr1:193074208-193074221 chr1:193074210-193074222
15	GABPA	chr1:193074452-193074845	A549	lung:	n/a	n/a
16	TCF7L2	chr1:193073426-193074964	Hela-S3	cervix:	n/a	n/a
17	POLR2A	chr1:193074109-193074971	K562	blood:	n/a	n/a
18	ZBTB33	chr1:193074321-193074987	HCT-116	colon:	n/a	n/a
19	POLR2A	chr1:193073588-193074948	GM12892	blood:	n/a	n/a
20	PBX3	chr1:193074330-193074883	A549	lung:	n/a	n/a
21	MAX	chr1:193073757-193074905	HepG2	liver:	n/a	n/a
22	REST	chr1:193073462-193074825	H1-neurons	neurons:	n/a	chr1:193073705-193073718 chr1:193074316-193074329
23	POLR2A	chr1:193073728-193075024	PANC-1	pancreas:	n/a	n/a
24	GABPA	chr1:193074278-193074955	MCF-7	breast:	n/a	n/a
25	GATA3	chr1:193074320-193074960	T-47D	breast:	n/a	chr1:193074749-193074757
26	TBL1XR1	chr1:193073521-193074969	K562	blood:	n/a	n/a
27	FOSL2	chr1:193074087-193074886	HepG2	liver:	n/a	chr1:193074257-193074265 chr1:193074257-193074264 chr1:193074257-193074265
28	TAF1	chr1:193074084-193075069	MCF-7	breast:	n/a	n/a
29	CEBPB	chr1:193074767-193075063	HepG2	liver:	n/a	n/a
30	JUND	chr1:193072918-193075266	K562	blood:	n/a	chr1:193074257-193074265 chr1:193074257-193074264 chr1:193073875-193073886 chr1:193074257-193074265 chr1:193074255-193074266
31	CTCF	chr1:193073643-193075061	K562	blood:	n/a	chr1:193073791-193073799
32	MYC	chr1:193073742-193074939	MCF10A-Er-Src	breast:	n/a	n/a
33	SP1	chr1:193073784-193075297	A549	lung:	n/a	chr1:193074307-193074314
34	MAX	chr1:193073980-193074932	A549	lung:	n/a	n/a
35	RAD21	chr1:193074394-193074810	GM12878	blood:	n/a	n/a
36	E2F1	chr1:193073587-193074821	Hela-S3	cervix:	n/a	chr1:193074632-193074642 chr1:193074293-193074303 chr1:193074628-193074637 chr1:193074294-193074304
37	MYC	chr1:193074618-193074912	H1-hESC	embryonic stem cell:	n/a	n/a
38	SMC3	chr1:193073372-193074984	Hela-S3	cervix:	n/a	n/a
39	POLR2A	chr1:193074055-193074918	ECC-1	luminal epithelium:	n/a	n/a
40	MYBL2	chr1:193074514-193074945	HepG2	liver:	n/a	n/a
41	HDAC2	chr1:193074411-193075016	MCF-7	breast:	n/a	n/a
42	POLR2A	chr1:193074095-193074939	A549	lung:	n/a	n/a
43	TEAD4	chr1:193074594-193074955	HepG2	liver:	n/a	n/a
44	TCF7L2	chr1:193074069-193074866	PANC-1	pancreas:	n/a	n/a
45	FOXA1	chr1:193074457-193074951	T-47D	breast:	n/a	n/a
46	USF2	chr1:193074508-193074896	H1-hESC	embryonic stem cell:	n/a	n/a
47	TAL1	chr1:193074349-193075100	K562	blood:	n/a	n/a
48	E2F6	chr1:193073426-193074904	K562	blood:	n/a	chr1:193074632-193074642 chr1:193074293-193074303 chr1:193074628-193074637 chr1:193074294-193074304
49	UBTF	chr1:193072740-193074900	K562	blood:	n/a	n/a
50	REST	chr1:193073793-193075140	A549	lung:	n/a	chr1:193074316-193074329

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:193074770-193074820	MCF-7	breast:	n/a
2	chr1:193074770-193074820	SK-N-SH	brain:	n/a
3	chr1:193074770-193074820	HNPCEpiC	eye:	n/a
4	chr1:193074770-193074820	NH-A	brain:	n/a
5	chr1:193074777-193074827	NHBE	bronchial:	n/a
6	chr1:193074777-193074827	PFSK-1	brain:	n/a
7	chr1:193074770-193074820	GM06990	blood:	n/a
8	chr1:193074777-193074827	AG09309	skin:	n/a
9	chr1:193074770-193074820	A549	lung:	n/a
10	chr1:193074777-193074827	GM12878	blood:	n/a
11	chr1:193074770-193074820	RPTEC	kidney:	n/a
12	chr1:193074770-193074820	MCF10A-Er-Src	breast:	n/a
13	chr1:193074777-193074827	NT2-D1	testis:	n/a
14	chr1:193074770-193074820	K562	blood:	n/a
15	chr1:193074770-193074820	T-47D	breast:	n/a
16	chr1:193074777-193074827	U87	brain:	n/a
17	chr1:193074777-193074827	LNCaP	prostate:	n/a
18	chr1:193074777-193074827	SKMC	muscle:	n/a
19	chr1:193074770-193074820	GM12892	blood:	n/a
20	chr1:193074770-193074820	HEEpiC	esophagus:	n/a
21	chr1:193074770-193074820	CMK	blood:	n/a
22	chr1:193074777-193074827	SAEC	small airway:	n/a
23	chr1:193074777-193074827	GM06990	blood:	n/a
24	chr1:193074777-193074827	A549	lung:	n/a
25	chr1:193074777-193074827	Hepatocyte	liver:	n/a
26	chr1:193074770-193074820	HepG2	liver:	n/a
27	chr1:193074777-193074827	MCF10A-Er-Src	breast:	n/a
28	chr1:193074777-193074827	AoSMC	blood vessel:	n/a
29	chr1:193074770-193074820	IMR90	lung:	fetal
30	chr1:193074777-193074827	GM12892	blood:	n/a
31	chr1:193074770-193074820	SKMC	muscle:	n/a
32	chr1:193074770-193074820	U87	brain:	n/a
33	chr1:193074770-193074820	NHDF-neo	bronchial:	n/a
34	chr1:193074777-193074827	ovcar-3	ovarian:	n/a
35	chr1:193074770-193074820	HRE	kidney:	n/a
36	chr1:193074770-193074820	SAEC	small airway:	n/a
37	chr1:193074777-193074827	Jurkat	blood:	n/a
38	chr1:193074777-193074827	H1-hESC	embryonic stem cell:	embryo
39	chr1:193074770-193074820	AG09319	gingival:	n/a
40	chr1:193074777-193074827	IMR90	lung:	fetal
41	chr1:193074777-193074827	HNPCEpiC	eye:	n/a
42	chr1:193074770-193074820	HPAEpiC	pulmonary alveolar:	n/a
43	chr1:193074777-193074827	BE2_C	brain:	n/a
44	chr1:193074770-193074820	PFSK-1	brain:	n/a
45	chr1:193074777-193074827	AG04449	skin:	fetal
46	chr1:193074770-193074820	H1-hESC	embryonic stem cell:	embryo
47	chr1:193074770-193074820	AG04449	skin:	fetal
48	chr1:193074770-193074820	HIPEpiC	eye:	n/a
49	chr1:193074777-193074827	PANC-1	pancreas:	n/a
50	chr1:193074770-193074820	AG10803	skin:	n/a

(count:25 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:193074180..193075233-chr1:193090769..193091716,3	Hela-S3	cervix:
2	chr1:193074188..193074858-chr10:93683004..93683859,2	Hela-S3	cervix:
3	chr1:193026932..193030661-chr1:193071909..193075798,10	K562	blood:
4	chr1:193074324..193074858-chr17:7387665..7388416,2	Hela-S3	cervix:
5	chr1:193074370..193075056-chr3:48884837..48885676,2	HCT-116	colon:
6	chr1:193074126..193075410-chr1:193090821..193091752,7	MCF-7	breast:
7	chr1:193027166..193030257-chr1:193073439..193079424,9	MCF-7	breast:
8	chr1:193073984..193074914-chr12:120729629..120730538,2	Hela-S3	cervix:
9	chr1:193073789..193075142-chr1:193090301..193091722,13	MCF-7	breast:
10	chr1:193074299..193075126-chr1:193090691..193091321,4	K562	blood:
11	chr1:193074393..193075094-chr14:50234850..50235604,2	Hela-S3	cervix:
12	chr1:193071213..193080146-chr1:193088491..193094639,51	MCF-7	breast:
13	chr1:193020543..193046917-chr1:193069266..193098746,125	K562	blood:
14	chr1:193074307..193075074-chr1:193090815..193091851,7	MCF-7	breast:
15	chr1:193071491..193076891-chr1:193086924..193094906,44	MCF-7	breast:
16	chr1:193074154..193074843-chr1:193090653..193091665,4	HCT-116	colon:
17	chr1:193027586..193031673-chr1:193072686..193075563,11	MCF-7	breast:
18	chr1:193074044..193075993-chr1:193105270..193107522,3	MCF-7	breast:
19	chr1:193074228..193075188-chr11:10326227..10327050,2	Hela-S3	cervix:
20	chr1:193074533..193075156-chr6:99395273..99395964,2	Hela-S3	cervix:
21	chr1:193033762..193041249-chr1:193071629..193075233,8	K562	blood:
22	chr1:193074169..193074912-chr17:80186486..80187364,2	NB4	blood:
23	chr1:193060114..193062197-chr1:193073397..193075467,2	MCF-7	breast:
24	chr1:193073395..193075181-chr1:193090593..193091565,9	MCF-7	breast:
25	chr1:193073518..193075825-chr16:84536562..84538522,2	MCF-7	breast:

No data

Variant related genes	Relation type
GLRX2	TF binding region
GLRX2	CpG island
ENSG00000202538	Chromatin interaction
ENSG00000116747	Chromatin interaction
ENSG00000272579	Chromatin interaction
ENSG00000141526	Chromatin interaction
ENSG00000095564	Chromatin interaction
ENSG00000140950	Chromatin interaction
ENSG00000116750	Chromatin interaction
ENSG00000221680	Chromatin interaction
ENSG00000224424	Chromatin interaction
ENSG00000114302	Chromatin interaction
ENSG00000112234	Chromatin interaction
ENSG00000181222	Chromatin interaction
ENSG00000165516	Chromatin interaction
ENSG00000134371	Chromatin interaction
ENSG00000148926	Chromatin interaction
ENSG00000238754	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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