Variant report

Variant	rs10158855
Chromosome Location	chr1:151515654-151515655
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:27)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:27 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr1:151515082-151515678	SK-N-SH	brain:	n/a	n/a
2	CHD1	chr1:151511796-151515943	IMR90	lung:	n/a	n/a
3	EP300	chr1:151514924-151515791	SK-N-SH	brain:	n/a	n/a
4	ZKSCAN1	chr1:151515192-151515720	Hela-S3	cervix:	n/a	n/a
5	SP1	chr1:151515090-151515672	A549	lung:	n/a	n/a
6	GATA3	chr1:151514759-151515855	SK-N-SH	brain:	n/a	chr1:151515168-151515179
7	GATA3	chr1:151514806-151515757	MCF-7	breast:	n/a	chr1:151515168-151515179
8	TCF12	chr1:151515046-151515751	ECC-1	luminal epithelium:	n/a	n/a
9	PBX3	chr1:151514938-151515799	SK-N-SH	brain:	n/a	n/a
10	TCF12	chr1:151515011-151515735	A549	lung:	n/a	n/a
11	EP300	chr1:151514825-151515723	SK-N-SH	brain:	n/a	n/a
12	GATA3	chr1:151514998-151515692	T-47D	breast:	n/a	chr1:151515168-151515179
13	NFIC	chr1:151514938-151515735	SK-N-SH	brain:	n/a	n/a
14	PBX3	chr1:151514988-151515757	SK-N-SH	brain:	n/a	n/a
15	JUND	chr1:151514937-151515663	SK-N-SH	brain:	n/a	n/a
16	FOSL2	chr1:151514960-151515727	SK-N-SH	brain:	n/a	n/a
17	RXRA	chr1:151514987-151515659	SK-N-SH	brain:	n/a	chr1:151515318-151515327
18	TCF12	chr1:151515103-151515758	ECC-1	luminal epithelium:	n/a	n/a
19	TCF12	chr1:151514801-151515771	SK-N-SH	brain:	n/a	n/a
20	NFIC	chr1:151514966-151515702	SK-N-SH	brain:	n/a	n/a
21	JUND	chr1:151514926-151515685	SK-N-SH	brain:	n/a	n/a
22	GATA3	chr1:151514861-151515829	A549	lung:	n/a	chr1:151515168-151515179
23	TCF12	chr1:151514877-151515823	SK-N-SH	brain:	n/a	n/a
24	GATA3	chr1:151514863-151515796	SK-N-SH	brain:	n/a	chr1:151515168-151515179
25	TEAD4	chr1:151514968-151515832	SK-N-SH	brain:	n/a	n/a
26	FOSL2	chr1:151515101-151515671	A549	lung:	n/a	n/a
27	EP300	chr1:151514983-151515657	ECC-1	luminal epithelium:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:151481429..151491154-chr1:151502501..151517487,49	MCF-7	breast:
2	chr1:151481542..151488437-chr1:151515636..151525415,14	MCF-7	breast:
3	chr1:151515446..151517713-chr1:151630494..151632395,2	MCF-7	breast:
4	chr1:151514211..151516187-chr1:151541825..151543936,2	MCF-7	breast:
5	chr1:151514171..151515908-chr1:151540816..151544051,3	MCF-7	breast:
6	chr1:151510726..151515686-chr1:151583230..151586215,6	MCF-7	breast:
7	chr1:151510534..151515854-chr1:151533093..151539013,11	MCF-7	breast:
8	chr1:151513355..151515892-chr1:151812476..151814438,2	MCF-7	breast:

No data

Variant related genes	Relation type
MIR554	TF binding region
ENSG00000201134	Chromatin interaction
ENSG00000143375	Chromatin interaction
ENSG00000143367	Chromatin interaction
ENSG00000234614	Chromatin interaction
ENSG00000250734	Chromatin interaction
ENSG00000143376	Chromatin interaction
ENSG00000225556	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs11204842	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11204845	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11204846	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11204847	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12034149	0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12117155	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12753658	0.96[CEU][hapmap];0.89[CHB][hapmap];0.85[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1891593	0.96[CEU][hapmap];0.96[EUR][1000 genomes]
rs2337360	1.00[CEU][hapmap];0.90[CHB][hapmap];0.85[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34589182	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs35436273	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs3828055	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4970956	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4970958	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs56096667	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs56188938	0.84[EUR][1000 genomes]
rs6669998	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7521397	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7526319	0.89[CEU][hapmap];0.89[CHB][hapmap];0.85[JPT][hapmap];0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7549296	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs868138	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916272	chr1:150961809-151557253	Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	219 gene(s)	inside rSNPs	diseases
2	nsv997511	chr1:151491765-151595902	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:151513400-151515800	Flanking Active TSS	Hela-S3	cervix
2	chr1:151513800-151519400	Weak transcription	Left Ventricle	heart
3	chr1:151514000-151515800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr1:151514000-151515800	Flanking Active TSS	HSMM	muscle
5	chr1:151514000-151516200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
6	chr1:151514000-151519400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr1:151514000-151519400	Weak transcription	HUVEC	blood vessel
8	chr1:151514200-151515800	Enhancers	Colon Smooth Muscle	Colon
9	chr1:151514200-151516200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr1:151514200-151516200	Flanking Active TSS	HSMMtube	muscle
11	chr1:151514200-151517800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr1:151514200-151519400	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr1:151514200-151519400	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr1:151514200-151519400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr1:151514200-151519600	Weak transcription	Fetal Heart	heart
16	chr1:151514200-151519600	Weak transcription	Ovary	ovary
17	chr1:151514400-151516200	Enhancers	Adipose Nuclei	Adipose
18	chr1:151514400-151519400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr1:151514400-151519600	Weak transcription	Psoas Muscle	Psoas
20	chr1:151514400-151519800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr1:151514400-151540800	Weak transcription	Brain Angular Gyrus	brain
22	chr1:151514400-151556800	Weak transcription	Fetal Brain Male	brain
23	chr1:151514600-151515800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr1:151514600-151515800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr1:151514600-151515800	Enhancers	HMEC	breast
26	chr1:151514600-151516000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr1:151514600-151516200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr1:151514600-151516200	Enhancers	NHDF-Ad	bronchial
29	chr1:151514600-151516400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr1:151514600-151516400	Enhancers	Pancreas	Pancrea
31	chr1:151514600-151516600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr1:151514600-151519200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr1:151514600-151519400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
34	chr1:151514600-151519400	Weak transcription	HUES48 Cell Line	embryonic stem cell
35	chr1:151514600-151519400	Weak transcription	Skeletal Muscle Male	skeletal muscle
36	chr1:151514600-151519600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
37	chr1:151514600-151519800	Weak transcription	Fetal Stomach	stomach
38	chr1:151514800-151515800	Enhancers	Fetal Kidney	kidney
39	chr1:151514800-151519200	Weak transcription	Liver	Liver
40	chr1:151515000-151515800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
41	chr1:151515000-151515800	Flanking Active TSS	Fetal Intestine Small	intestine
42	chr1:151515000-151515800	Flanking Active TSS	A549	lung
43	chr1:151515000-151515800	Flanking Active TSS	NH-A	brain
44	chr1:151515200-151515800	Enhancers	Sigmoid Colon	Sigmoid Colon
45	chr1:151515400-151515800	Weak transcription	Gastric	stomach
46	chr1:151515400-151515800	Enhancers	Placenta Amnion	Placenta Amnion
47	chr1:151515400-151516000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr1:151515400-151516600	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr1:151515400-151518000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr1:151515400-151519400	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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