Variant report

Variant	rs149830639
Chromosome Location	chr1:94311554-94311555
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	POLR2A	chr1:94311225-94313897	PFSK-1	brain:	n/a	n/a
2	FOS	chr1:94311258-94312046	HUVEC	blood vessel:	n/a	chr1:94311558-94311569
3	RCOR1	chr1:94311279-94312347	Hela-S3	cervix:	n/a	n/a
4	TAF1	chr1:94311549-94312495	PFSK-1	brain:	n/a	n/a
5	KAP1	chr1:94311179-94312266	U2OS	brain:	n/a	n/a
6	BHLHE40	chr1:94311048-94311612	A549	lung:	n/a	n/a
7	JUN	chr1:94311096-94311662	HUVEC	blood vessel:	n/a	chr1:94311249-94311262
8	STAT3	chr1:94311451-94311683	MCF10A-Er-Src	breast:	n/a	n/a
9	REST	chr1:94310836-94314061	H1-neurons	neurons:	n/a	chr1:94313411-94313429 chr1:94313382-94313392 chr1:94313624-94313638 chr1:94312132-94312145
10	FOSL2	chr1:94311069-94312191	SK-N-SH	brain:	n/a	n/a
11	TCF7L2	chr1:94311274-94313955	Hela-S3	cervix:	n/a	chr1:94312026-94312033 chr1:94311760-94311769
12	POLR2A	chr1:94311075-94313288	Hela-S3	cervix:	n/a	n/a
13	MYC	chr1:94311550-94312529	K562	blood:	n/a	chr1:94312213-94312223
14	CEBPB	chr1:94311090-94312025	A549	lung:	n/a	n/a
15	MAFF	chr1:94311206-94311651	HepG2	liver:	n/a	chr1:94311498-94311516
16	MYC	chr1:94311201-94312229	MCF10A-Er-Src	breast:	n/a	chr1:94312213-94312223
17	MAX	chr1:94311060-94313919	ECC-1	luminal epithelium:	n/a	chr1:94312213-94312223 chr1:94313560-94313569
18	MYC	chr1:94311547-94312321	H1-hESC	embryonic stem cell:	n/a	chr1:94312213-94312223
19	FOXM1	chr1:94311514-94312244	GM12878	blood:	n/a	n/a
20	POLR2A	chr1:94311175-94312528	HL-60	blood:	n/a	n/a
21	JUND	chr1:94311110-94312455	K562	blood:	n/a	n/a
22	MAFK	chr1:94311132-94311682	IMR90	lung:	n/a	n/a
23	POLR2A	chr1:94311257-94313920	K562	blood:	n/a	n/a
24	FOS	chr1:94311347-94311727	MCF10A-Er-Src	breast:	n/a	chr1:94311558-94311569
25	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
26	BCL3	chr1:94311520-94312002	A549	lung:	n/a	chr1:94311806-94311819 chr1:94311842-94311855
27	POLR2A	chr1:94311092-94313903	Hela-S3	cervix:	n/a	n/a
28	BHLHE40	chr1:94311471-94312445	GM12878	blood:	n/a	chr1:94311976-94311992
29	POLR2A	chr1:94311411-94312395	HCT-116	colon:	n/a	n/a
30	POLR2A	chr1:94311363-94313868	Hela-S3	cervix:	n/a	n/a
31	SETDB1	chr1:94311146-94311744	U2OS	brain:	n/a	n/a
32	POLR2A	chr1:94311042-94313877	ECC-1	luminal epithelium:	n/a	n/a
33	CTCF	chr1:94311440-94311590	GM12873	blood:	n/a	n/a
34	YY1	chr1:94311062-94311628	ECC-1	luminal epithelium:	n/a	n/a
35	CREB1	chr1:94311329-94312494	GM12878	blood:	n/a	n/a
36	MAX	chr1:94311211-94313920	NB4	blood:	n/a	chr1:94312213-94312223 chr1:94313560-94313569
37	RCOR1	chr1:94311012-94314184	IMR90	lung:	n/a	n/a
38	CEBPB	chr1:94311069-94311771	A549	lung:	n/a	n/a
39	POLR2A	chr1:94311218-94313823	IMR90	lung:	n/a	n/a
40	UBTF	chr1:94311548-94313823	K562	blood:	n/a	n/a
41	HEY1	chr1:94311353-94312500	HepG2	liver:	n/a	chr1:94312190-94312205 chr1:94312315-94312330 chr1:94312135-94312150 chr1:94311900-94311915
42	POLR2A	chr1:94311089-94312421	HepG2	liver:	n/a	n/a
43	TBP	chr1:94311236-94312217	HepG2	liver:	n/a	n/a
44	MAZ	chr1:94311334-94313965	K562	blood:	n/a	chr1:94313560-94313569
45	MBD4	chr1:94311322-94312269	HepG2	liver:	n/a	n/a
46	MAZ	chr1:94311494-94313900	Hela-S3	cervix:	n/a	chr1:94313560-94313569
47	TCF12	chr1:94311061-94314095	ECC-1	luminal epithelium:	n/a	chr1:94312315-94312325
48	POLR2A	chr1:94311139-94314016	H1-hESC	embryonic stem cell:	n/a	n/a
49	ZNF143	chr1:94311145-94312040	H1-hESC	embryonic stem cell:	n/a	n/a
50	POLR2A	chr1:94311200-94313871	HepG2	liver:	n/a	n/a

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	chr1:94146501..94148043-chr1:94311466..94313377,2	MCF-7	breast:
5	chr1:93912251..93917174-chr1:94311554..94314483,6	MCF-7	breast:
6	chr1:94311521..94312144-chr7:39988387..39989256,2	HCT-116	colon:
7	chr1:94311158..94313376-chr1:94883814..94886511,2	K562	blood:
8	chr1:93643262..93645748-chr1:94311384..94313517,2	K562	blood:
9	chr1:94311345..94312464-chr5:43483381..43484059,3	Hela-S3	cervix:
10	chr1:93643769..93645748-chr1:94311324..94312884,2	K562	blood:
11	chr1:94310839..94314732-chr1:94343365..94346802,6	MCF-7	breast:
12	chr1:94144888..94147261-chr1:94311172..94313468,2	K562	blood:
13	chr1:94311309..94313221-chr1:94336029..94338174,3	K562	blood:
14	chr1:94310035..94314107-chr1:94336308..94338315,4	K562	blood:
15	chr1:93808883..93811348-chr1:94310727..94314254,3	K562	blood:
16	chr1:94310214..94315053-chr1:94342432..94346579,12	K562	blood:

Variant related genes	Relation type
ENSG00000260464	TF binding region
BCAR3	TF binding region
MIR760	TF binding region
ENSG00000223745	Chromatin interaction
ENSG00000023909	Chromatin interaction
ENSG00000122483	Chromatin interaction
ENSG00000151881	Chromatin interaction
ENSG00000143033	Chromatin interaction
ENSG00000137942	Chromatin interaction
ENSG00000137936	Chromatin interaction
ENSG00000117528	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	chr1:94300800-94311600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr1:94303800-94311600	Weak transcription	Gastric	stomach
3	chr1:94307600-94311800	Weak transcription	Spleen	Spleen
4	chr1:94308400-94311600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr1:94309800-94311800	Enhancers	Placenta Amnion	Placenta Amnion
6	chr1:94310000-94311600	Enhancers	Fetal Heart	heart
7	chr1:94310400-94311600	Flanking Active TSS	Hela-S3	cervix
8	chr1:94311000-94311800	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr1:94311000-94311800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr1:94311000-94311800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr1:94311000-94311800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
12	chr1:94311000-94311800	Flanking Active TSS	Duodenum Mucosa	Duodenum
13	chr1:94311000-94311800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
14	chr1:94311000-94311800	Flanking Active TSS	Stomach Smooth Muscle	stomach
15	chr1:94311000-94311800	Flanking Active TSS	Dnd41	blood
16	chr1:94311000-94311800	Flanking Active TSS	NHLF	lung
17	chr1:94311000-94312400	Flanking Active TSS	HMEC	breast
18	chr1:94311200-94311600	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
19	chr1:94311200-94311600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr1:94311200-94311600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr1:94311200-94311600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr1:94311200-94311600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr1:94311200-94311600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr1:94311200-94311600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
25	chr1:94311200-94311600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
26	chr1:94311200-94311600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
27	chr1:94311200-94311600	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
28	chr1:94311200-94311600	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
29	chr1:94311200-94311600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr1:94311200-94311600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
31	chr1:94311200-94311600	Flanking Active TSS	Brain Angular Gyrus	brain
32	chr1:94311200-94311600	Flanking Active TSS	Brain Anterior Caudate	brain
33	chr1:94311200-94311600	Flanking Active TSS	Brain Germinal Matrix	brain
34	chr1:94311200-94311600	Flanking Active TSS	Brain Hippocampus Middle	brain
35	chr1:94311200-94311600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
36	chr1:94311200-94311600	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
37	chr1:94311200-94311600	Flanking Active TSS	Colon Smooth Muscle	Colon
38	chr1:94311200-94311600	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
39	chr1:94311200-94311600	Enhancers	Esophagus	oesophagus
40	chr1:94311200-94311600	Flanking Active TSS	Fetal Brain Female	brain
41	chr1:94311200-94311600	Flanking Active TSS	Fetal Kidney	kidney
42	chr1:94311200-94311600	Flanking Active TSS	Pancreas	Pancrea
43	chr1:94311200-94311600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
44	chr1:94311200-94311600	Flanking Active TSS	Sigmoid Colon	Sigmoid Colon
45	chr1:94311200-94311600	Enhancers	Small Intestine	intestine
46	chr1:94311200-94311600	Flanking Active TSS	A549	lung
47	chr1:94311200-94311600	Flanking Active TSS	K562	blood
48	chr1:94311200-94311800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
49	chr1:94311200-94311800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
50	chr1:94311200-94311800	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell

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