Variant report

Variant	rs571853395
Chromosome Location	chr1:94312222-94312223
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:330)
CpG islands
(count:61)
Chromatin interactive
region (count:27)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:330 , 50 per page) page: 1 2 3 4 5 6 7

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	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	MAX	chr1:94311736-94312388	MCF-7	breast:	n/a	chr1:94312213-94312223
9	POLR2A	chr1:94311705-94312344	SK-N-SH	brain:	n/a	n/a
10	RCOR1	chr1:94311279-94312347	Hela-S3	cervix:	n/a	n/a
11	POLR2A	chr1:94311599-94312400	HepG2	liver:	n/a	n/a
12	TAF1	chr1:94311549-94312495	PFSK-1	brain:	n/a	n/a
13	KAP1	chr1:94311179-94312266	U2OS	brain:	n/a	n/a
14	POLR2A	chr1:94311700-94313828	HEK293	kidney:	n/a	n/a
15	E2F6	chr1:94312052-94312395	K562	blood:	n/a	chr1:94312197-94312211 chr1:94312135-94312145 chr1:94312200-94312214
16	MAX	chr1:94311741-94313908	K562	blood:	n/a	chr1:94312213-94312223 chr1:94313560-94313569
17	POLR2A	chr1:94311713-94312534	A549	lung:	n/a	n/a
18	RCOR1	chr1:94311781-94312378	K562	blood:	n/a	n/a
19	REST	chr1:94310836-94314061	H1-neurons	neurons:	n/a	chr1:94313411-94313429 chr1:94313382-94313392 chr1:94313624-94313638 chr1:94312132-94312145
20	EP300	chr1:94311602-94312287	K562	blood:	n/a	chr1:94311894-94311910
21	GTF2F1	chr1:94311884-94312382	K562	blood:	n/a	n/a
22	POLR2A	chr1:94311625-94312379	U87	brain:	n/a	n/a
23	TCF7L2	chr1:94311274-94313955	Hela-S3	cervix:	n/a	chr1:94312026-94312033 chr1:94311760-94311769
24	CHD2	chr1:94311852-94312393	GM12878	blood:	n/a	n/a
25	ZBTB7A	chr1:94311557-94314008	ECC-1	luminal epithelium:	n/a	n/a
26	POLR2A	chr1:94311723-94312415	A549	lung:	n/a	n/a
27	POLR2A	chr1:94311075-94313288	Hela-S3	cervix:	n/a	n/a
28	IRF1	chr1:94311755-94312401	K562	blood:	n/a	chr1:94311924-94311938
29	MYC	chr1:94311550-94312529	K562	blood:	n/a	chr1:94312213-94312223
30	MYC	chr1:94311201-94312229	MCF10A-Er-Src	breast:	n/a	chr1:94312213-94312223
31	MAX	chr1:94311060-94313919	ECC-1	luminal epithelium:	n/a	chr1:94312213-94312223 chr1:94313560-94313569
32	MYC	chr1:94311547-94312321	H1-hESC	embryonic stem cell:	n/a	chr1:94312213-94312223
33	HMGN3	chr1:94311715-94313735	K562	blood:	n/a	n/a
34	FOXM1	chr1:94311514-94312244	GM12878	blood:	n/a	n/a
35	TCF12	chr1:94311780-94312444	GM12878	blood:	n/a	chr1:94312315-94312325
36	POLR2A	chr1:94311175-94312528	HL-60	blood:	n/a	n/a
37	REST	chr1:94311597-94312401	H1-neurons	neurons:	n/a	chr1:94312132-94312145
38	BRCA1	chr1:94312101-94312272	GM12878	blood:	n/a	n/a
39	POLR2A	chr1:94311707-94313841	MCF-7	breast:	n/a	n/a
40	JUND	chr1:94311110-94312455	K562	blood:	n/a	n/a
41	POLR2A	chr1:94311257-94313920	K562	blood:	n/a	n/a
42	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
43	HDAC2	chr1:94311709-94312427	HepG2	liver:	n/a	chr1:94312198-94312207
44	POLR2A	chr1:94311092-94313903	Hela-S3	cervix:	n/a	n/a
45	BHLHE40	chr1:94311471-94312445	GM12878	blood:	n/a	chr1:94311976-94311992
46	TCF7L2	chr1:94311734-94313844	HCT-116	colon:	n/a	chr1:94312026-94312033 chr1:94311760-94311769
47	POLR2A	chr1:94311845-94312445	GM12892	blood:	n/a	n/a
48	POLR2A	chr1:94311714-94313312	A549	lung:	n/a	n/a
49	MYC	chr1:94311873-94312408	MCF-7	breast:	n/a	chr1:94312213-94312223
50	POLR2A	chr1:94311411-94312395	HCT-116	colon:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:94312206-94312256	LNCaP	prostate:	n/a
2	chr1:94312206-94312256	PANC-1	pancreas:	n/a
3	chr1:94312206-94312256	HRPEpiC	eye:	n/a
4	chr1:94312206-94312256	PrEC	prostate:	n/a
5	chr1:94312206-94312256	HMEC	breast:	n/a
6	chr1:94312206-94312256	HepG2	liver:	n/a
7	chr1:94312206-94312256	HIPEpiC	eye:	n/a
8	chr1:94312206-94312256	AG09309	skin:	n/a
9	chr1:94312206-94312256	BE2_C	brain:	n/a
10	chr1:94312206-94312256	AG09319	gingival:	n/a
11	chr1:94312206-94312256	NT2-D1	testis:	n/a
12	chr1:94312206-94312256	HL-60	blood:	n/a
13	chr1:94312206-94312256	CMK	blood:	n/a
14	chr1:94312206-94312256	HCT-116	colon:	n/a
15	chr1:94312206-94312256	ProgFib	skin:	n/a
16	chr1:94312206-94312256	HNPCEpiC	eye:	n/a
17	chr1:94312206-94312256	HCM	heart:	n/a
18	chr1:94312206-94312256	AoSMC	blood vessel:	n/a
19	chr1:94312206-94312256	NB4	blood:	n/a
20	chr1:94312206-94312256	BJ	skin:	n/a
21	chr1:94312206-94312256	RPTEC	kidney:	n/a
22	chr1:94312206-94312256	HUVEC	blood vessel:	n/a
23	chr1:94312206-94312256	ovcar-3	ovarian:	n/a
24	chr1:94312206-94312256	HCF	heart:	n/a
25	chr1:94312206-94312256	GM12878	blood:	n/a
26	chr1:94312206-94312256	SAEC	small airway:	n/a
27	chr1:94312206-94312256	SK-N-MC	brain:	n/a
28	chr1:94312206-94312256	GM19239	blood:	n/a
29	chr1:94312206-94312256	PFSK-1	brain:	n/a
30	chr1:94312206-94312256	NH-A	brain:	n/a
31	chr1:94312206-94312256	GM06990	blood:	n/a
32	chr1:94312206-94312256	SKMC	muscle:	n/a
33	chr1:94312206-94312256	Hela-S3	cervix:	n/a
34	chr1:94312206-94312256	U87	brain:	n/a
35	chr1:94312206-94312256	AG10803	skin:	n/a
36	chr1:94312206-94312256	SK-N-SH_RA	brain:	n/a
37	chr1:94312206-94312256	T-47D	breast:	n/a
38	chr1:94312206-94312256	HCPEpiC	choroid plexus:	n/a
39	chr1:94312206-94312256	HAEpiC	amniotic membrane:	n/a
40	chr1:94312206-94312256	GM12892	blood:	n/a
41	chr1:94312206-94312256	MCF10A-Er-Src	breast:	n/a
42	chr1:94312206-94312256	SK-N-SH	brain:	n/a
43	chr1:94312206-94312256	Caco-2	colon:	n/a
44	chr1:94312206-94312256	HEEpiC	esophagus:	n/a
45	chr1:94312206-94312256	AG04450	lung:	fetal
46	chr1:94312206-94312256	ECC-1	luminal epithelium:	n/a
47	chr1:94312206-94312256	MCF-7	breast:	n/a
48	chr1:94312206-94312256	Hepatocyte	liver:	n/a
49	chr1:94312206-94312256	A549	lung:	n/a
50	chr1:94312206-94312256	HEK293	kidney:	embryo

(count:27 , 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	chr1:94032781..94034755-chr1:94312060..94314320,2	K562	blood:
4	chr1:94311992..94315197-chr1:94341852..94346150,3	MCF-7	breast:
5	chr1:94311932..94312926-chr1:173793602..173794332,2	Hela-S3	cervix:
6	chr1:94311883..94312816-chr6:41068705..41069705,3	Hela-S3	cervix:
7	chr1:93544000..93546020-chr1:94311349..94313397,2	MCF-7	breast:
8	chr1:94310847..94313357-chr1:94374431..94376609,2	K562	blood:
9	chr1:94311698..94312428-chr12:62653393..62653903,2	Hela-S3	cervix:
10	chr1:94146501..94148043-chr1:94311466..94313377,2	MCF-7	breast:
11	chr1:93912251..93917174-chr1:94311554..94314483,6	MCF-7	breast:
12	chr1:94311158..94313376-chr1:94883814..94886511,2	K562	blood:
13	chr1:93643262..93645748-chr1:94311384..94313517,2	K562	blood:
14	chr1:94311345..94312464-chr5:43483381..43484059,3	Hela-S3	cervix:
15	chr1:94312118..94313117-chr12:53773612..53774367,2	Hela-S3	cervix:
16	chr1:93643769..93645748-chr1:94311324..94312884,2	K562	blood:
17	chr1:94312180..94314378-chr1:94343204..94344804,3	K562	blood:
18	chr1:94310839..94314732-chr1:94343365..94346802,6	MCF-7	breast:
19	chr1:94144888..94147261-chr1:94311172..94313468,2	K562	blood:
20	chr1:45196360..45196880-chr1:94311880..94312608,2	Hela-S3	cervix:
21	chr1:94311309..94313221-chr1:94336029..94338174,3	K562	blood:
22	chr1:94311636..94312585-chr10:112678360..112678969,2	Hela-S3	cervix:
23	chr1:94311791..94312311-chr18:2655228..2655886,2	Hela-S3	cervix:
24	chr1:94312026..94313686-chr1:94337188..94339061,2	MCF-7	breast:
25	chr1:94310035..94314107-chr1:94336308..94338315,4	K562	blood:
26	chr1:93808883..93811348-chr1:94310727..94314254,3	K562	blood:
27	chr1:94310214..94315053-chr1:94342432..94346579,12	K562	blood:

No data

Variant related genes	Relation type
ENSG00000260464	TF binding region
MIR760	TF binding region
BCAR3	TF binding region
MIR760	CpG island
BCAR3	CpG island
ENSG00000260464	CpG island
ENSG00000122483	Chromatin interaction
ENSG00000266405	Chromatin interaction
ENSG00000137942	Chromatin interaction
ENSG00000161912	Chromatin interaction
ENSG00000151881	Chromatin interaction
ENSG00000137936	Chromatin interaction
ENSG00000200169	Chromatin interaction
ENSG00000117528	Chromatin interaction
ENSG00000117593	Chromatin interaction
ENSG00000101596	Chromatin interaction
ENSG00000198673	Chromatin interaction
ENSG00000120334	Chromatin interaction
ENSG00000023909	Chromatin interaction
ENSG00000185591	Chromatin interaction
ENSG00000143033	Chromatin interaction
ENSG00000067334	Chromatin interaction
ENSG00000214413	Chromatin interaction
ENSG00000223745	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	chr1:94311200-94312400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
3	chr1:94311200-94312600	Flanking Active TSS	Primary hematopoietic stem cells	blood
4	chr1:94311200-94312600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr1:94311200-94312800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr1:94311200-94313800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
7	chr1:94311200-94313800	Active TSS	Lung	lung
8	chr1:94311200-94314000	Active TSS	H9 Cell Line	embryonic stem cell
9	chr1:94311200-94314000	Active TSS	iPS-15b Cell Line	embryonic stem cell
10	chr1:94311200-94314000	Active TSS	Ovary	ovary
11	chr1:94311400-94312400	Bivalent/Poised TSS	HepG2	liver
12	chr1:94311400-94312600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr1:94311400-94313200	Active TSS	Thymus	Thymus
14	chr1:94311400-94313400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
15	chr1:94311400-94313800	Active TSS	Pancreatic Islets	Pancreatic Islet
16	chr1:94311400-94313800	Active TSS	NH-A	brain
17	chr1:94311400-94314000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr1:94311400-94314000	Active TSS	Aorta	Aorta
19	chr1:94311400-94314000	Active TSS	Colonic Mucosa	Colon
20	chr1:94311400-94314000	Active TSS	Fetal Muscle Trunk	muscle
21	chr1:94311400-94314000	Active TSS	Psoas Muscle	Psoas
22	chr1:94311400-94314000	Active TSS	Right Ventricle	heart
23	chr1:94311400-94314000	Active TSS	NHDF-Ad	bronchial
24	chr1:94311600-94313400	Active TSS	Fetal Brain Female	brain
25	chr1:94311600-94313600	Active TSS	Primary T helper naive cells from peripheral blood	blood
26	chr1:94311600-94313600	Active TSS	Primary T killer naive cells fromperipheralblood	blood
27	chr1:94311600-94313600	Active TSS	Colon Smooth Muscle	Colon
28	chr1:94311600-94313600	Active TSS	Esophagus	oesophagus
29	chr1:94311600-94313600	Active TSS	Rectal Mucosa Donor 29	rectum
30	chr1:94311600-94313800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr1:94311600-94313800	Active TSS	Breast Myoepithelial Primary Cells	Breast
32	chr1:94311600-94313800	Active TSS	Primary T killer memory cells from peripheral blood	blood
33	chr1:94311600-94313800	Active TSS	Brain Hippocampus Middle	brain
34	chr1:94311600-94313800	Active TSS	Duodenum Smooth Muscle	Duodenum
35	chr1:94311600-94313800	Active TSS	Fetal Kidney	kidney
36	chr1:94311600-94313800	Active TSS	Gastric	stomach
37	chr1:94311600-94313800	Active TSS	Sigmoid Colon	Sigmoid Colon
38	chr1:94311600-94313800	Active TSS	Small Intestine	intestine
39	chr1:94311600-94313800	Active TSS	A549	lung
40	chr1:94311600-94313800	Active TSS	Hela-S3	cervix
41	chr1:94311600-94314000	Active TSS	ES-I3 Cell Line	embryonic stem cell
42	chr1:94311600-94314000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr1:94311600-94314000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr1:94311600-94314000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr1:94311600-94314000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
46	chr1:94311600-94314000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr1:94311600-94314000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr1:94311600-94314000	Active TSS	Brain Anterior Caudate	brain
49	chr1:94311600-94314000	Active TSS	Brain Germinal Matrix	brain
50	chr1:94311600-94314000	Active TSS	Fetal Heart	heart

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