Variant report

Variant	rs35545334
Chromosome Location	chr1:94311668-94311669
allele	-/T
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	CREB1	chr1:94311658-94312306	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr1:94311225-94313897	PFSK-1	brain:	n/a	n/a
3	FOS	chr1:94311258-94312046	HUVEC	blood vessel:	n/a	chr1:94311558-94311569
4	POLR2A	chr1:94311618-94312462	K562	blood:	n/a	n/a
5	MAX	chr1:94311665-94313906	HepG2	liver:	n/a	chr1:94312213-94312223 chr1:94313560-94313569
6	RCOR1	chr1:94311279-94312347	Hela-S3	cervix:	n/a	n/a
7	POLR2A	chr1:94311599-94312400	HepG2	liver:	n/a	n/a
8	TAF1	chr1:94311549-94312495	PFSK-1	brain:	n/a	n/a
9	KAP1	chr1:94311179-94312266	U2OS	brain:	n/a	n/a
10	STAT3	chr1:94311451-94311683	MCF10A-Er-Src	breast:	n/a	n/a
11	REST	chr1:94310836-94314061	H1-neurons	neurons:	n/a	chr1:94313411-94313429 chr1:94313382-94313392 chr1:94313624-94313638 chr1:94312132-94312145
12	EP300	chr1:94311602-94312287	K562	blood:	n/a	chr1:94311894-94311910
13	FOSL2	chr1:94311069-94312191	SK-N-SH	brain:	n/a	n/a
14	CTCF	chr1:94311600-94311750	HMEC	breast:	n/a	n/a
15	POLR2A	chr1:94311625-94312379	U87	brain:	n/a	n/a
16	TCF7L2	chr1:94311274-94313955	Hela-S3	cervix:	n/a	chr1:94312026-94312033 chr1:94311760-94311769
17	ZBTB7A	chr1:94311557-94314008	ECC-1	luminal epithelium:	n/a	n/a
18	CTCF	chr1:94311640-94311790	HVMF	connective:	n/a	n/a
19	CTCF	chr1:94311660-94312037	H1-hESC	embryonic stem cell:	n/a	n/a
20	POLR2A	chr1:94311075-94313288	Hela-S3	cervix:	n/a	n/a
21	MYC	chr1:94311550-94312529	K562	blood:	n/a	chr1:94312213-94312223
22	CEBPB	chr1:94311090-94312025	A549	lung:	n/a	n/a
23	MYC	chr1:94311201-94312229	MCF10A-Er-Src	breast:	n/a	chr1:94312213-94312223
24	MAX	chr1:94311060-94313919	ECC-1	luminal epithelium:	n/a	chr1:94312213-94312223 chr1:94313560-94313569
25	POLR2A	chr1:94311655-94312193	HepG2	liver:	n/a	n/a
26	MYC	chr1:94311547-94312321	H1-hESC	embryonic stem cell:	n/a	chr1:94312213-94312223
27	FOXM1	chr1:94311514-94312244	GM12878	blood:	n/a	n/a
28	POLR2A	chr1:94311175-94312528	HL-60	blood:	n/a	n/a
29	REST	chr1:94311597-94312401	H1-neurons	neurons:	n/a	chr1:94312132-94312145
30	CTCF	chr1:94311589-94312112	K562	blood:	n/a	n/a
31	ZBTB7A	chr1:94311558-94312173	ECC-1	luminal epithelium:	n/a	n/a
32	JUND	chr1:94311110-94312455	K562	blood:	n/a	n/a
33	MAFK	chr1:94311132-94311682	IMR90	lung:	n/a	n/a
34	POLR2A	chr1:94311257-94313920	K562	blood:	n/a	n/a
35	FOS	chr1:94311347-94311727	MCF10A-Er-Src	breast:	n/a	chr1:94311558-94311569
36	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
37	BCL3	chr1:94311520-94312002	A549	lung:	n/a	chr1:94311806-94311819 chr1:94311842-94311855
38	POLR2A	chr1:94311092-94313903	Hela-S3	cervix:	n/a	n/a
39	BHLHE40	chr1:94311471-94312445	GM12878	blood:	n/a	chr1:94311976-94311992
40	RAD21	chr1:94311601-94312114	H1-hESC	embryonic stem cell:	n/a	n/a
41	POLR2A	chr1:94311411-94312395	HCT-116	colon:	n/a	n/a
42	POLR2A	chr1:94311627-94313301	GM12892	blood:	n/a	n/a
43	POLR2A	chr1:94311363-94313868	Hela-S3	cervix:	n/a	n/a
44	SETDB1	chr1:94311146-94311744	U2OS	brain:	n/a	n/a
45	POLR2A	chr1:94311042-94313877	ECC-1	luminal epithelium:	n/a	n/a
46	POLR2A	chr1:94311625-94312373	U87	brain:	n/a	n/a
47	HEY1	chr1:94311667-94313380	K562	blood:	n/a	chr1:94313075-94313090 chr1:94312190-94312205 chr1:94312315-94312330 chr1:94312135-94312150 chr1:94311900-94311915
48	SIN3AK20	chr1:94311594-94312386	MCF-7	breast:	n/a	n/a
49	SIN3A	chr1:94311665-94313931	H1-hESC	embryonic stem cell:	n/a	chr1:94312341-94312350 chr1:94311894-94311907 chr1:94311896-94311907 chr1:94312318-94312329 chr1:94311846-94311857
50	CREB1	chr1:94311329-94312494	GM12878	blood:	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	chr1:94311636..94312585-chr10:112678360..112678969,2	Hela-S3	cervix:
15	chr1:94310035..94314107-chr1:94336308..94338315,4	K562	blood:
16	chr1:93808883..93811348-chr1:94310727..94314254,3	K562	blood:
17	chr1:94310214..94315053-chr1:94342432..94346579,12	K562	blood:

Variant related genes	Relation type
BCAR3	TF binding region
MIR760	TF binding region
ENSG00000260464	TF binding region
ENSG00000137942	Chromatin interaction
ENSG00000151881	Chromatin interaction
ENSG00000023909	Chromatin interaction
ENSG00000223745	Chromatin interaction
ENSG00000143033	Chromatin interaction
ENSG00000117528	Chromatin interaction
ENSG00000122483	Chromatin interaction
ENSG00000067334	Chromatin interaction
ENSG00000214413	Chromatin interaction
ENSG00000137936	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	chr1:94307600-94311800	Weak transcription	Spleen	Spleen
2	chr1:94309800-94311800	Enhancers	Placenta Amnion	Placenta Amnion
3	chr1:94311000-94311800	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr1:94311000-94311800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr1:94311000-94311800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr1:94311000-94311800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
7	chr1:94311000-94311800	Flanking Active TSS	Duodenum Mucosa	Duodenum
8	chr1:94311000-94311800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
9	chr1:94311000-94311800	Flanking Active TSS	Stomach Smooth Muscle	stomach
10	chr1:94311000-94311800	Flanking Active TSS	Dnd41	blood
11	chr1:94311000-94311800	Flanking Active TSS	NHLF	lung
12	chr1:94311000-94312400	Flanking Active TSS	HMEC	breast
13	chr1:94311200-94311800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
14	chr1:94311200-94311800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
15	chr1:94311200-94311800	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
16	chr1:94311200-94311800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
17	chr1:94311200-94311800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
18	chr1:94311200-94311800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr1:94311200-94311800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
20	chr1:94311200-94311800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
21	chr1:94311200-94311800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
22	chr1:94311200-94311800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
23	chr1:94311200-94311800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
24	chr1:94311200-94311800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr1:94311200-94311800	Flanking Active TSS	Adipose Nuclei	Adipose
26	chr1:94311200-94311800	Flanking Active TSS	Brain Cingulate Gyrus	brain
27	chr1:94311200-94311800	Flanking Active TSS	Brain Substantia Nigra	brain
28	chr1:94311200-94311800	Flanking Active TSS	Fetal Intestine Large	intestine
29	chr1:94311200-94311800	Flanking Active TSS	Fetal Lung	lung
30	chr1:94311200-94311800	Flanking Active TSS	Fetal Muscle Leg	muscle
31	chr1:94311200-94311800	Flanking Active TSS	Fetal Stomach	stomach
32	chr1:94311200-94311800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
33	chr1:94311200-94311800	Flanking Active TSS	Rectal Smooth Muscle	rectum
34	chr1:94311200-94311800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
35	chr1:94311200-94311800	Flanking Active TSS	Stomach Mucosa	stomach
36	chr1:94311200-94311800	Flanking Active TSS	GM12878-XiMat	blood
37	chr1:94311200-94311800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
38	chr1:94311200-94311800	Flanking Active TSS	NHEK	skin
39	chr1:94311200-94312000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr1:94311200-94312000	Flanking Active TSS	Primary B cells from cord blood	blood
41	chr1:94311200-94312000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
42	chr1:94311200-94312000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
43	chr1:94311200-94312000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr1:94311200-94312000	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
45	chr1:94311200-94312000	Flanking Active TSS	HUVEC	blood vessel
46	chr1:94311200-94312200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr1:94311200-94312400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
48	chr1:94311200-94312600	Flanking Active TSS	Primary hematopoietic stem cells	blood
49	chr1:94311200-94312600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr1:94311200-94312800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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