Variant report

Variant	rs3768280
Chromosome Location	chr1:155900135-155900136
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:10)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:10 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:155899932-155900483	GM12878	blood:	n/a	n/a
2	POLR2A	chr1:155899728-155902718	HepG2	liver:	n/a	n/a
3	POLR2A	chr1:155900103-155900211	ProgFib	skin:	n/a	n/a
4	POLR2A	chr1:155899841-155900202	SK-N-MC	brain:	n/a	n/a
5	POLR2A	chr1:155900088-155900850	PFSK-1	brain:	n/a	n/a
6	POLR2A	chr1:155899833-155900483	GM12892	blood:	n/a	n/a
7	MXI1	chr1:155900037-155902527	SK-N-SH	brain:	n/a	n/a
8	POLR2A	chr1:155900124-155900413	HepG2	liver:	n/a	n/a
9	POLR2A	chr1:155899834-155900138	GM12892	blood:	n/a	n/a
10	POLR2A	chr1:155899841-155902284	GM12878	blood:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:155825492..155827773-chr1:155899342..155902054,2	K562	blood:
2	chr1:155893064..155900339-chr1:155902644..155906758,10	MCF-7	breast:
3	chr1:155897781..155902008-chr1:155946105..155951194,6	K562	blood:
4	chr1:155897781..155900441-chr1:155946771..155949716,3	K562	blood:
5	chr1:155898876..155902845-chr1:155952494..155955112,4	K562	blood:
6	chr1:155898778..155900768-chr1:155910276..155912897,2	K562	blood:

No data

Variant related genes	Relation type
KIAA0907	TF binding region
SCARNA4	TF binding region
ENSG00000116580	Chromatin interaction
ENSG00000173080	Chromatin interaction
ENSG00000116584	Chromatin interaction
ENSG00000132680	Chromatin interaction
ENSG00000273002	Chromatin interaction

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs1010033	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1018730	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.87[TSI][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1055184	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10908485	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1094558	0.83[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs11264421	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12039053	0.98[AFR][1000 genomes];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12129384	0.91[AFR][1000 genomes]
rs12138833	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12747344	1.00[CEU][hapmap];0.94[TSI][hapmap];0.97[EUR][1000 genomes]
rs1544119	0.84[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.85[LWK][hapmap];0.86[MEX][hapmap];0.84[MKK][hapmap];0.94[TSI][hapmap];0.92[YRI][hapmap]
rs1749407	0.91[EUR][1000 genomes]
rs1749408	0.85[EUR][1000 genomes]
rs1749409	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1765275	0.85[CEU][hapmap];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1964951	0.94[EUR][1000 genomes]
rs2275071	0.95[ASN][1000 genomes]
rs2275079	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2275081	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2364402	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2364404	0.84[ASW][hapmap];1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.85[LWK][hapmap];0.86[MEX][hapmap];0.86[MKK][hapmap];0.94[TSI][hapmap];0.92[YRI][hapmap];0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28379575	0.98[AFR][1000 genomes];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2886069	0.98[AFR][1000 genomes];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34802187	0.97[EUR][1000 genomes]
rs35138477	0.84[EUR][1000 genomes]
rs35374730	0.97[EUR][1000 genomes]
rs35588936	0.89[CEU][hapmap];0.88[TSI][hapmap];0.84[EUR][1000 genomes]
rs35730001	0.94[EUR][1000 genomes]
rs3738587	1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs4412586	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4661160	0.98[AFR][1000 genomes];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4661162	0.84[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.85[LWK][hapmap];0.86[MEX][hapmap];0.86[MKK][hapmap];0.94[TSI][hapmap];0.92[YRI][hapmap];0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4661170	0.97[EUR][1000 genomes]
rs4661172	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.84[LWK][hapmap];0.99[MKK][hapmap];0.94[TSI][hapmap];0.89[YRI][hapmap];0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs493446	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs506688	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs527113	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs536870	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs572609	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.99[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs605025	1.00[CEU][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6660802	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6667096	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs708614	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs71628697	0.99[EUR][1000 genomes]
rs71628699	0.85[EUR][1000 genomes]
rs822502	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs822503	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs822519	0.82[ASW][hapmap];1.00[CEU][hapmap]
rs822653	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

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	esv33869	chr1:155223283-155917961	Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	187 gene(s)	inside rSNPs	diseases
2	esv3423892	chr1:155664084-155901487	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
3	nsv916198	chr1:155804210-156403997	Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	428 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:155881800-155900600	Strong transcription	Fetal Muscle Leg	muscle
2	chr1:155881800-155901200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
3	chr1:155881800-155901200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
4	chr1:155882000-155900200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr1:155882000-155900400	Strong transcription	Primary B cells from cord blood	blood
6	chr1:155882000-155900600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr1:155882000-155900600	Strong transcription	Fetal Muscle Trunk	muscle
8	chr1:155882000-155900600	Strong transcription	Placenta	Placenta
9	chr1:155882000-155900600	Strong transcription	Fetal Stomach	stomach
10	chr1:155882000-155900600	Strong transcription	Left Ventricle	heart
11	chr1:155882000-155900800	Strong transcription	Thymus	Thymus
12	chr1:155882000-155901000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr1:155882000-155901400	Strong transcription	HUES6 Cell Line	embryonic stem cell
14	chr1:155882000-155901400	Strong transcription	Monocytes-CD14+_RO01746	blood
15	chr1:155882200-155900200	Strong transcription	Duodenum Smooth Muscle	Duodenum
16	chr1:155882200-155900600	Strong transcription	Fetal Thymus	thymus
17	chr1:155882200-155901000	Strong transcription	HUES48 Cell Line	embryonic stem cell
18	chr1:155882200-155901000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr1:155882200-155901200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr1:155882200-155901400	Strong transcription	HUES64 Cell Line	embryonic stem cell
21	chr1:155882200-155901400	Strong transcription	Primary monocytes fromperipheralblood	blood
22	chr1:155882200-155901400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr1:155882200-155903000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr1:155882400-155900200	Strong transcription	Primary B cells from peripheral blood	blood
25	chr1:155882600-155900200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr1:155882600-155900200	Strong transcription	Skeletal Muscle Female	skeletal muscle
27	chr1:155882600-155901600	Strong transcription	iPS-15b Cell Line	embryonic stem cell
28	chr1:155882600-155901600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
29	chr1:155882800-155901400	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr1:155882800-155901600	Strong transcription	H1 Cell Line	embryonic stem cell
31	chr1:155882800-155902600	Strong transcription	H9 Cell Line	embryonic stem cell
32	chr1:155883000-155900200	Strong transcription	Brain Anterior Caudate	brain
33	chr1:155883000-155900400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
34	chr1:155883000-155900400	Strong transcription	Sigmoid Colon	Sigmoid Colon
35	chr1:155883000-155900600	Strong transcription	Cortex derived primary cultured neurospheres	brain
36	chr1:155883000-155902200	Strong transcription	Primary neutrophils fromperipheralblood	blood
37	chr1:155883200-155900200	Strong transcription	Primary T killer memory cells from peripheral blood	blood
38	chr1:155883400-155900400	Strong transcription	Placenta Amnion	Placenta Amnion
39	chr1:155883600-155900600	Strong transcription	Lung	lung
40	chr1:155884000-155900400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr1:155884400-155901200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr1:155885200-155900400	Strong transcription	NHDF-Ad	bronchial
43	chr1:155885200-155900600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr1:155886400-155900200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr1:155888000-155902600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr1:155890200-155901600	Strong transcription	ES-I3 Cell Line	embryonic stem cell
47	chr1:155894600-155901400	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr1:155895000-155900200	Strong transcription	Brain Germinal Matrix	brain
49	chr1:155895000-155900600	Strong transcription	NHLF	lung
50	chr1:155895200-155901200	Strong transcription	Primary hematopoietic stem cells	blood

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