Variant report

Variant	rs145493932
Chromosome Location	chr1:94311950-94311951
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:468)
CpG islands
(count:0)
Chromatin interactive
region (count:23)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:468 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

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	CHD2	chr1:94311850-94312354	K562	blood:	n/a	n/a
6	FOS	chr1:94311258-94312046	HUVEC	blood vessel:	n/a	chr1:94311558-94311569
7	POLR2A	chr1:94311618-94312462	K562	blood:	n/a	n/a
8	MAX	chr1:94311665-94313906	HepG2	liver:	n/a	chr1:94312213-94312223 chr1:94313560-94313569
9	CTCF	chr1:94311800-94311950	HPAF	blood vessel:	n/a	n/a
10	MAX	chr1:94311736-94312388	MCF-7	breast:	n/a	chr1:94312213-94312223
11	CTCF	chr1:94311824-94311989	H1-hESC	embryonic stem cell:	n/a	n/a
12	POLR2A	chr1:94311705-94312344	SK-N-SH	brain:	n/a	n/a
13	RCOR1	chr1:94311279-94312347	Hela-S3	cervix:	n/a	n/a
14	POLR2A	chr1:94311599-94312400	HepG2	liver:	n/a	n/a
15	TAF1	chr1:94311549-94312495	PFSK-1	brain:	n/a	n/a
16	CTCF	chr1:94311840-94311990	HPAF	blood vessel:	n/a	n/a
17	KAP1	chr1:94311179-94312266	U2OS	brain:	n/a	n/a
18	POLR2A	chr1:94311700-94313828	HEK293	kidney:	n/a	n/a
19	CTCF	chr1:94311820-94311970	GM12878	blood:	n/a	n/a
20	MAX	chr1:94311741-94313908	K562	blood:	n/a	chr1:94312213-94312223 chr1:94313560-94313569
21	POLR2A	chr1:94311713-94312534	A549	lung:	n/a	n/a
22	RCOR1	chr1:94311781-94312378	K562	blood:	n/a	n/a
23	REST	chr1:94310836-94314061	H1-neurons	neurons:	n/a	chr1:94313411-94313429 chr1:94313382-94313392 chr1:94313624-94313638 chr1:94312132-94312145
24	EP300	chr1:94311602-94312287	K562	blood:	n/a	chr1:94311894-94311910
25	FOSL2	chr1:94311069-94312191	SK-N-SH	brain:	n/a	n/a
26	GTF2F1	chr1:94311884-94312382	K562	blood:	n/a	n/a
27	POLR2A	chr1:94311625-94312379	U87	brain:	n/a	n/a
28	TCF7L2	chr1:94311274-94313955	Hela-S3	cervix:	n/a	chr1:94312026-94312033 chr1:94311760-94311769
29	EP300	chr1:94311742-94312216	HepG2	liver:	n/a	chr1:94311894-94311910
30	CHD2	chr1:94311852-94312393	GM12878	blood:	n/a	n/a
31	CTCF	chr1:94311840-94311990	HMF	breast:	n/a	n/a
32	CTCF	chr1:94311840-94311990	HUVEC	blood vessel:	n/a	n/a
33	CTCF	chr1:94311900-94312050	HVMF	connective:	n/a	n/a
34	ZBTB7A	chr1:94311557-94314008	ECC-1	luminal epithelium:	n/a	n/a
35	CTCF	chr1:94311820-94311970	HEEpiC	esophagus:	n/a	n/a
36	POLR2A	chr1:94311723-94312415	A549	lung:	n/a	n/a
37	CTCF	chr1:94311660-94312037	H1-hESC	embryonic stem cell:	n/a	n/a
38	POLR2A	chr1:94311075-94313288	Hela-S3	cervix:	n/a	n/a
39	IRF1	chr1:94311755-94312401	K562	blood:	n/a	chr1:94311924-94311938
40	MYC	chr1:94311550-94312529	K562	blood:	n/a	chr1:94312213-94312223
41	POLR2A	chr1:94311756-94312105	H1-hESC	embryonic stem cell:	n/a	n/a
42	CEBPB	chr1:94311090-94312025	A549	lung:	n/a	n/a
43	MYC	chr1:94311201-94312229	MCF10A-Er-Src	breast:	n/a	chr1:94312213-94312223
44	MAX	chr1:94311060-94313919	ECC-1	luminal epithelium:	n/a	chr1:94312213-94312223 chr1:94313560-94313569
45	POLR2A	chr1:94311655-94312193	HepG2	liver:	n/a	n/a
46	MYC	chr1:94311547-94312321	H1-hESC	embryonic stem cell:	n/a	chr1:94312213-94312223
47	CTCF	chr1:94311880-94312030	HRPEpiC	eye:	n/a	n/a
48	CTCF	chr1:94311840-94311990	HBMEC	blood vessel:	n/a	n/a
49	HMGN3	chr1:94311715-94313735	K562	blood:	n/a	n/a
50	CTCF	chr1:94311843-94312005	SK-N-SH_RA	brain:	n/a	n/a

No data

(count:23 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:94145898..94148493-chr1:94311257..94313086,3	MCF-7	breast:
2	chr1:94031565..94034150-chr1:94311941..94313768,2	MCF-7	breast:
3	chr1:94311932..94312926-chr1:173793602..173794332,2	Hela-S3	cervix:
4	chr1:94311883..94312816-chr6:41068705..41069705,3	Hela-S3	cervix:
5	chr1:93544000..93546020-chr1:94311349..94313397,2	MCF-7	breast:
6	chr1:94310847..94313357-chr1:94374431..94376609,2	K562	blood:
7	chr1:94311698..94312428-chr12:62653393..62653903,2	Hela-S3	cervix:
8	chr1:94146501..94148043-chr1:94311466..94313377,2	MCF-7	breast:
9	chr1:93912251..93917174-chr1:94311554..94314483,6	MCF-7	breast:
10	chr1:94311521..94312144-chr7:39988387..39989256,2	HCT-116	colon:
11	chr1:94311158..94313376-chr1:94883814..94886511,2	K562	blood:
12	chr1:93643262..93645748-chr1:94311384..94313517,2	K562	blood:
13	chr1:94311345..94312464-chr5:43483381..43484059,3	Hela-S3	cervix:
14	chr1:93643769..93645748-chr1:94311324..94312884,2	K562	blood:
15	chr1:94310839..94314732-chr1:94343365..94346802,6	MCF-7	breast:
16	chr1:94144888..94147261-chr1:94311172..94313468,2	K562	blood:
17	chr1:45196360..45196880-chr1:94311880..94312608,2	Hela-S3	cervix:
18	chr1:94311309..94313221-chr1:94336029..94338174,3	K562	blood:
19	chr1:94311636..94312585-chr10:112678360..112678969,2	Hela-S3	cervix:
20	chr1:94311791..94312311-chr18:2655228..2655886,2	Hela-S3	cervix:
21	chr1:94310035..94314107-chr1:94336308..94338315,4	K562	blood:
22	chr1:93808883..93811348-chr1:94310727..94314254,3	K562	blood:
23	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
ENSG00000137942	Chromatin interaction
ENSG00000161912	Chromatin interaction
ENSG00000122483	Chromatin interaction
ENSG00000067334	Chromatin interaction
ENSG00000198673	Chromatin interaction
ENSG00000117528	Chromatin interaction
ENSG00000200169	Chromatin interaction
ENSG00000266405	Chromatin interaction
ENSG00000117593	Chromatin interaction
ENSG00000143033	Chromatin interaction
ENSG00000120334	Chromatin interaction
ENSG00000223745	Chromatin interaction
ENSG00000023909	Chromatin interaction
ENSG00000151881	Chromatin interaction
ENSG00000137936	Chromatin interaction
ENSG00000101596	Chromatin interaction
ENSG00000214413	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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