Variant report

Variant	rs536594421
Chromosome Location	chr1:94311812-94311813
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:353)
CpG islands
(count:61)
Chromatin interactive
region (count:19)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:353 , 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	CREB1	chr1:94311658-94312306	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr1:94311743-94312494	GM12891	blood:	n/a	n/a
3	POLR2A	chr1:94311717-94313891	MCF-7	breast:	n/a	n/a
4	POLR2A	chr1:94311225-94313897	PFSK-1	brain:	n/a	n/a
5	FOS	chr1:94311258-94312046	HUVEC	blood vessel:	n/a	chr1:94311558-94311569
6	POLR2A	chr1:94311618-94312462	K562	blood:	n/a	n/a
7	MAX	chr1:94311665-94313906	HepG2	liver:	n/a	chr1:94312213-94312223 chr1:94313560-94313569
8	CTCF	chr1:94311800-94311950	HPAF	blood vessel:	n/a	n/a
9	MAX	chr1:94311736-94312388	MCF-7	breast:	n/a	chr1:94312213-94312223
10	POLR2A	chr1:94311705-94312344	SK-N-SH	brain:	n/a	n/a
11	RCOR1	chr1:94311279-94312347	Hela-S3	cervix:	n/a	n/a
12	POLR2A	chr1:94311599-94312400	HepG2	liver:	n/a	n/a
13	TAF1	chr1:94311549-94312495	PFSK-1	brain:	n/a	n/a
14	KAP1	chr1:94311179-94312266	U2OS	brain:	n/a	n/a
15	POLR2A	chr1:94311700-94313828	HEK293	kidney:	n/a	n/a
16	MAX	chr1:94311741-94313908	K562	blood:	n/a	chr1:94312213-94312223 chr1:94313560-94313569
17	CTCF	chr1:94311760-94311910	SAEC	small airway:	n/a	n/a
18	POLR2A	chr1:94311713-94312534	A549	lung:	n/a	n/a
19	RCOR1	chr1:94311781-94312378	K562	blood:	n/a	n/a
20	REST	chr1:94310836-94314061	H1-neurons	neurons:	n/a	chr1:94313411-94313429 chr1:94313382-94313392 chr1:94313624-94313638 chr1:94312132-94312145
21	EP300	chr1:94311602-94312287	K562	blood:	n/a	chr1:94311894-94311910
22	FOSL2	chr1:94311069-94312191	SK-N-SH	brain:	n/a	n/a
23	POLR2A	chr1:94311625-94312379	U87	brain:	n/a	n/a
24	TCF7L2	chr1:94311274-94313955	Hela-S3	cervix:	n/a	chr1:94312026-94312033 chr1:94311760-94311769
25	EP300	chr1:94311742-94312216	HepG2	liver:	n/a	chr1:94311894-94311910
26	ZBTB7A	chr1:94311557-94314008	ECC-1	luminal epithelium:	n/a	n/a
27	POLR2A	chr1:94311723-94312415	A549	lung:	n/a	n/a
28	CTCF	chr1:94311660-94312037	H1-hESC	embryonic stem cell:	n/a	n/a
29	POLR2A	chr1:94311075-94313288	Hela-S3	cervix:	n/a	n/a
30	IRF1	chr1:94311755-94312401	K562	blood:	n/a	chr1:94311924-94311938
31	MYC	chr1:94311550-94312529	K562	blood:	n/a	chr1:94312213-94312223
32	POLR2A	chr1:94311756-94312105	H1-hESC	embryonic stem cell:	n/a	n/a
33	CEBPB	chr1:94311090-94312025	A549	lung:	n/a	n/a
34	MYC	chr1:94311201-94312229	MCF10A-Er-Src	breast:	n/a	chr1:94312213-94312223
35	MAX	chr1:94311060-94313919	ECC-1	luminal epithelium:	n/a	chr1:94312213-94312223 chr1:94313560-94313569
36	POLR2A	chr1:94311655-94312193	HepG2	liver:	n/a	n/a
37	MYC	chr1:94311547-94312321	H1-hESC	embryonic stem cell:	n/a	chr1:94312213-94312223
38	SMC3	chr1:94311696-94311910	K562	blood:	n/a	n/a
39	HMGN3	chr1:94311715-94313735	K562	blood:	n/a	n/a
40	FOXM1	chr1:94311514-94312244	GM12878	blood:	n/a	n/a
41	TCF12	chr1:94311780-94312444	GM12878	blood:	n/a	chr1:94312315-94312325
42	POLR2A	chr1:94311175-94312528	HL-60	blood:	n/a	n/a
43	REST	chr1:94311597-94312401	H1-neurons	neurons:	n/a	chr1:94312132-94312145
44	CTCF	chr1:94311589-94312112	K562	blood:	n/a	n/a
45	ZBTB7A	chr1:94311558-94312173	ECC-1	luminal epithelium:	n/a	n/a
46	POLR2A	chr1:94311707-94313841	MCF-7	breast:	n/a	n/a
47	JUND	chr1:94311110-94312455	K562	blood:	n/a	n/a
48	POLR2A	chr1:94311257-94313920	K562	blood:	n/a	n/a
49	EGR1	chr1:94311264-94312524	HCT-116	colon:	n/a	chr1:94312278-94312287 chr1:94312203-94312213 chr1:94312277-94312290 chr1:94312274-94312288 chr1:94311962-94311972 chr1:94312278-94312288 chr1:94312277-94312290 chr1:94312278-94312288 chr1:94312278-94312289 chr1:94312276-94312290 chr1:94312277-94312290 chr1:94312279-94312288 chr1:94312278-94312289
50	BCL3	chr1:94311520-94312002	A549	lung:	n/a	chr1:94311806-94311819 chr1:94311842-94311855

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:94311802-94311852	Caco-2	colon:	n/a
2	chr1:94311802-94311852	SK-N-MC	brain:	n/a
3	chr1:94311802-94311852	MCF10A-Er-Src	breast:	n/a
4	chr1:94311802-94311852	NHBE	bronchial:	n/a
5	chr1:94311802-94311852	SKMC	muscle:	n/a
6	chr1:94311802-94311852	PANC-1	pancreas:	n/a
7	chr1:94311802-94311852	HAEpiC	amniotic membrane:	n/a
8	chr1:94311802-94311852	CMK	blood:	n/a
9	chr1:94311802-94311852	GM12891	blood:	n/a
10	chr1:94311802-94311852	GM12878	blood:	n/a
11	chr1:94311802-94311852	HCM	heart:	n/a
12	chr1:94311802-94311852	NT2-D1	testis:	n/a
13	chr1:94311802-94311852	H1-hESC	embryonic stem cell:	embryo
14	chr1:94311802-94311852	SAEC	small airway:	n/a
15	chr1:94311802-94311852	ProgFib	skin:	n/a
16	chr1:94311802-94311852	NHDF-neo	bronchial:	n/a
17	chr1:94311802-94311852	HCF	heart:	n/a
18	chr1:94311802-94311852	Hepatocyte	liver:	n/a
19	chr1:94311802-94311852	HepG2	liver:	n/a
20	chr1:94311802-94311852	HCT-116	colon:	n/a
21	chr1:94311802-94311852	ECC-1	luminal epithelium:	n/a
22	chr1:94311802-94311852	HCPEpiC	choroid plexus:	n/a
23	chr1:94311802-94311852	NH-A	brain:	n/a
24	chr1:94311802-94311852	LNCaP	prostate:	n/a
25	chr1:94311802-94311852	HUVEC	blood vessel:	n/a
26	chr1:94311802-94311852	T-47D	breast:	n/a
27	chr1:94311802-94311852	U87	brain:	n/a
28	chr1:94311802-94311852	RPTEC	kidney:	n/a
29	chr1:94311802-94311852	Hela-S3	cervix:	n/a
30	chr1:94311802-94311852	PrEC	prostate:	n/a
31	chr1:94311802-94311852	AG09309	skin:	n/a
32	chr1:94311802-94311852	Jurkat	blood:	n/a
33	chr1:94311802-94311852	IMR90	lung:	fetal
34	chr1:94311802-94311852	HIPEpiC	eye:	n/a
35	chr1:94311802-94311852	A549	lung:	n/a
36	chr1:94311802-94311852	HEK293	kidney:	embryo
37	chr1:94311802-94311852	HEEpiC	esophagus:	n/a
38	chr1:94311802-94311852	SK-N-SH_RA	brain:	n/a
39	chr1:94311802-94311852	MCF-7	breast:	n/a
40	chr1:94311802-94311852	ovcar-3	ovarian:	n/a
41	chr1:94311802-94311852	HPAEpiC	pulmonary alveolar:	n/a
42	chr1:94311802-94311852	HMEC	breast:	n/a
43	chr1:94311802-94311852	HRPEpiC	eye:	n/a
44	chr1:94311802-94311852	BJ	skin:	n/a
45	chr1:94311802-94311852	K562	blood:	n/a
46	chr1:94311802-94311852	HL-60	blood:	n/a
47	chr1:94311802-94311852	SK-N-SH	brain:	n/a
48	chr1:94311802-94311852	AG04450	lung:	fetal
49	chr1:94311802-94311852	GM12892	blood:	n/a
50	chr1:94311802-94311852	AoSMC	blood vessel:	n/a

(count:19 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:94145898..94148493-chr1:94311257..94313086,3	MCF-7	breast:
2	chr1:93544000..93546020-chr1:94311349..94313397,2	MCF-7	breast:
3	chr1:94310847..94313357-chr1:94374431..94376609,2	K562	blood:
4	chr1:94311698..94312428-chr12:62653393..62653903,2	Hela-S3	cervix:
5	chr1:94146501..94148043-chr1:94311466..94313377,2	MCF-7	breast:
6	chr1:93912251..93917174-chr1:94311554..94314483,6	MCF-7	breast:
7	chr1:94311521..94312144-chr7:39988387..39989256,2	HCT-116	colon:
8	chr1:94311158..94313376-chr1:94883814..94886511,2	K562	blood:
9	chr1:93643262..93645748-chr1:94311384..94313517,2	K562	blood:
10	chr1:94311345..94312464-chr5:43483381..43484059,3	Hela-S3	cervix:
11	chr1:93643769..93645748-chr1:94311324..94312884,2	K562	blood:
12	chr1:94310839..94314732-chr1:94343365..94346802,6	MCF-7	breast:
13	chr1:94144888..94147261-chr1:94311172..94313468,2	K562	blood:
14	chr1:94311309..94313221-chr1:94336029..94338174,3	K562	blood:
15	chr1:94311636..94312585-chr10:112678360..112678969,2	Hela-S3	cervix:
16	chr1:94311791..94312311-chr18:2655228..2655886,2	Hela-S3	cervix:
17	chr1:94310035..94314107-chr1:94336308..94338315,4	K562	blood:
18	chr1:93808883..93811348-chr1:94310727..94314254,3	K562	blood:
19	chr1:94310214..94315053-chr1:94342432..94346579,12	K562	blood:

No data

Variant related genes	Relation type
MIR760	TF binding region
ENSG00000260464	TF binding region
BCAR3	TF binding region
MIR760	CpG island
ENSG00000260464	CpG island
BCAR3	CpG island
ENSG00000198673	Chromatin interaction
ENSG00000137942	Chromatin interaction
ENSG00000214413	Chromatin interaction
ENSG00000137936	Chromatin interaction
ENSG00000101596	Chromatin interaction
ENSG00000023909	Chromatin interaction
ENSG00000122483	Chromatin interaction
ENSG00000151881	Chromatin interaction
ENSG00000117528	Chromatin interaction
ENSG00000266405	Chromatin interaction
ENSG00000223745	Chromatin interaction
ENSG00000143033	Chromatin interaction
ENSG00000067334	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	esv1822452	chr1:94278128-94320233	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	121 gene(s)	inside rSNPs	diseases
2	nsv998755	chr1:94294015-94341712	Flanking Active TSS Active TSS Genic enhancers Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	121 gene(s)	inside rSNPs	diseases
3	esv3438948	chr1:94311389-94313937	Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	120 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:94311000-94312400	Flanking Active TSS	HMEC	breast
2	chr1:94311200-94312000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr1:94311200-94312000	Flanking Active TSS	Primary B cells from cord blood	blood
4	chr1:94311200-94312000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
5	chr1:94311200-94312000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
6	chr1:94311200-94312000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr1:94311200-94312000	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
8	chr1:94311200-94312000	Flanking Active TSS	HUVEC	blood vessel
9	chr1:94311200-94312200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr1:94311200-94312400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
11	chr1:94311200-94312600	Flanking Active TSS	Primary hematopoietic stem cells	blood
12	chr1:94311200-94312600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr1:94311200-94312800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr1:94311200-94313800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
15	chr1:94311200-94313800	Active TSS	Lung	lung
16	chr1:94311200-94314000	Active TSS	H9 Cell Line	embryonic stem cell
17	chr1:94311200-94314000	Active TSS	iPS-15b Cell Line	embryonic stem cell
18	chr1:94311200-94314000	Active TSS	Ovary	ovary
19	chr1:94311400-94312000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
20	chr1:94311400-94312000	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
21	chr1:94311400-94312000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr1:94311400-94312000	Flanking Active TSS	Placenta	Placenta
23	chr1:94311400-94312200	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr1:94311400-94312400	Bivalent/Poised TSS	HepG2	liver
25	chr1:94311400-94312600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr1:94311400-94313200	Active TSS	Thymus	Thymus
27	chr1:94311400-94313400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
28	chr1:94311400-94313800	Active TSS	Pancreatic Islets	Pancreatic Islet
29	chr1:94311400-94313800	Active TSS	NH-A	brain
30	chr1:94311400-94314000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr1:94311400-94314000	Active TSS	Aorta	Aorta
32	chr1:94311400-94314000	Active TSS	Colonic Mucosa	Colon
33	chr1:94311400-94314000	Active TSS	Fetal Muscle Trunk	muscle
34	chr1:94311400-94314000	Active TSS	Psoas Muscle	Psoas
35	chr1:94311400-94314000	Active TSS	Right Ventricle	heart
36	chr1:94311400-94314000	Active TSS	NHDF-Ad	bronchial
37	chr1:94311600-94312200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr1:94311600-94313400	Active TSS	Fetal Brain Female	brain
39	chr1:94311600-94313600	Active TSS	Primary T helper naive cells from peripheral blood	blood
40	chr1:94311600-94313600	Active TSS	Primary T killer naive cells fromperipheralblood	blood
41	chr1:94311600-94313600	Active TSS	Colon Smooth Muscle	Colon
42	chr1:94311600-94313600	Active TSS	Esophagus	oesophagus
43	chr1:94311600-94313600	Active TSS	Rectal Mucosa Donor 29	rectum
44	chr1:94311600-94313800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr1:94311600-94313800	Active TSS	Breast Myoepithelial Primary Cells	Breast
46	chr1:94311600-94313800	Active TSS	Primary T killer memory cells from peripheral blood	blood
47	chr1:94311600-94313800	Active TSS	Brain Hippocampus Middle	brain
48	chr1:94311600-94313800	Active TSS	Duodenum Smooth Muscle	Duodenum
49	chr1:94311600-94313800	Active TSS	Fetal Kidney	kidney
50	chr1:94311600-94313800	Active TSS	Gastric	stomach

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