Variant report

Variant	rs11207933
Chromosome Location	chr1:62676091-62676092
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:49)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:49 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RFX5	chr1:62675959-62676224	Hela-S3	cervix:	n/a	n/a
2	CTCF	chr1:62675957-62676152	NHEK	skin:	n/a	n/a
3	CTCF	chr1:62675960-62676110	HMEC	breast:	n/a	n/a
4	MAFK	chr1:62675979-62676272	Hela-S3	cervix:	n/a	n/a
5	GTF2F1	chr1:62675918-62676219	Hela-S3	cervix:	n/a	n/a
6	POLR2A	chr1:62675988-62676169	H1-hESC	embryonic stem cell:	n/a	n/a
7	FOS	chr1:62675952-62676225	MCF10A-Er-Src	breast:	n/a	n/a
8	ATF2	chr1:62675363-62677428	H1-hESC	embryonic stem cell:	n/a	n/a
9	CHD2	chr1:62675567-62679535	H1-hESC	embryonic stem cell:	n/a	n/a
10	SMC3	chr1:62675660-62676329	Hela-S3	cervix:	n/a	n/a
11	MYC	chr1:62675980-62676270	MCF10A-Er-Src	breast:	n/a	n/a
12	CHD2	chr1:62675970-62676225	Hela-S3	cervix:	n/a	n/a
13	POLR2A	chr1:62675402-62677410	H1-hESC	embryonic stem cell:	n/a	n/a
14	BRCA1	chr1:62675922-62676280	Hela-S3	cervix:	n/a	n/a
15	EP300	chr1:62675965-62676421	Hela-S3	cervix:	n/a	n/a
16	MYC	chr1:62676047-62676157	Hela-S3	cervix:	n/a	n/a
17	ATF2	chr1:62675552-62677433	H1-hESC	embryonic stem cell:	n/a	n/a
18	ELK1	chr1:62676013-62676163	Hela-S3	cervix:	n/a	n/a
19	JUN	chr1:62675904-62676336	Hela-S3	cervix:	n/a	n/a
20	GTF2F1	chr1:62675517-62679496	H1-hESC	embryonic stem cell:	n/a	n/a
21	POLR2A	chr1:62675505-62676298	H1-hESC	embryonic stem cell:	n/a	n/a
22	RCOR1	chr1:62675979-62676221	Hela-S3	cervix:	n/a	n/a
23	RAD21	chr1:62675762-62676343	Hela-S3	cervix:	n/a	n/a
24	FOS	chr1:62675967-62676272	MCF10A-Er-Src	breast:	n/a	n/a
25	POLR2A	chr1:62671110-62680443	H1-hESC	embryonic stem cell:	n/a	n/a
26	CTCF	chr1:62675979-62676110	Gliobla	brain:	n/a	n/a
27	MAZ	chr1:62675941-62676216	Hela-S3	cervix:	n/a	n/a
28	CTCF	chr1:62676012-62676106	MCF-7	breast:	n/a	n/a
29	CTCF	chr1:62675999-62676100	MCF-7	breast:	n/a	n/a
30	MAX	chr1:62675928-62676205	Hela-S3	cervix:	n/a	n/a
31	JUND	chr1:62676022-62676290	HepG2	liver:	n/a	chr1:62676134-62676145
32	JUND	chr1:62675900-62676402	Hela-S3	cervix:	n/a	chr1:62676134-62676145
33	CTCF	chr1:62675960-62676110	Hela-S3	cervix:	n/a	n/a
34	FOSL2	chr1:62675950-62676296	A549	lung:	n/a	n/a
35	USF2	chr1:62675984-62676179	Hela-S3	cervix:	n/a	n/a
36	TAF7	chr1:62675465-62677366	H1-hESC	embryonic stem cell:	n/a	n/a
37	ZKSCAN1	chr1:62676020-62676240	Hela-S3	cervix:	n/a	n/a
38	CTCF	chr1:62676060-62676210	HEEpiC	esophagus:	n/a	n/a
39	STAT3	chr1:62675960-62676309	Hela-S3	cervix:	n/a	n/a
40	CEBPB	chr1:62675942-62676352	Hela-S3	cervix:	n/a	n/a
41	E2F6	chr1:62675410-62676375	H1-hESC	embryonic stem cell:	n/a	n/a
42	POLR2A	chr1:62672294-62680406	H1-hESC	embryonic stem cell:	n/a	n/a
43	CTCF	chr1:62675941-62676166	Hela-S3	cervix:	n/a	n/a
44	RAD21	chr1:62675909-62676179	HepG2	liver:	n/a	n/a
45	USF2	chr1:62675641-62677196	H1-hESC	embryonic stem cell:	n/a	n/a
46	MAFF	chr1:62676082-62676100	HepG2	liver:	n/a	n/a
47	FOS	chr1:62675961-62676276	MCF10A-Er-Src	breast:	n/a	n/a
48	MAX	chr1:62675751-62676203	H1-hESC	embryonic stem cell:	n/a	n/a
49	FOS	chr1:62675953-62676277	MCF10A-Er-Src	breast:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:62675861..62676588-chr1:62872539..62873330,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000237227	TF binding region
ENSG00000200174	TF binding region

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11207930	0.84[AFR][1000 genomes]
rs11207932	0.84[CHB][hapmap]
rs11207936	0.84[CHB][hapmap];0.94[YRI][hapmap];0.86[AFR][1000 genomes]
rs11802658	0.84[CHB][hapmap]
rs11805853	0.84[CHB][hapmap]
rs2457826	0.92[CHB][hapmap]
rs41514144	0.84[CHB][hapmap]
rs4915604	0.86[CHB][hapmap]
rs7533274	0.86[CHB][hapmap]
rs7542665	0.86[CHB][hapmap]
rs7551777	0.83[CHB][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1004446	chr1:62394631-62813533	Enhancers ZNF genes & repeats Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
2	nsv534984	chr1:62394631-62813533	Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
3	nsv870842	chr1:62644118-62679202	Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv1009398	chr1:62656660-62780644	Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:62664800-62677800	Weak transcription	Placenta	Placenta
2	chr1:62666000-62695400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr1:62667400-62676200	Strong transcription	Placenta Amnion	Placenta Amnion
4	chr1:62668400-62677200	Strong transcription	H9 Cell Line	embryonic stem cell
5	chr1:62670400-62677200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr1:62670600-62676200	Strong transcription	HUES48 Cell Line	embryonic stem cell
7	chr1:62671800-62678200	Strong transcription	H1 Cell Line	embryonic stem cell
8	chr1:62672200-62677400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
9	chr1:62673200-62676400	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr1:62673800-62677200	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
11	chr1:62673800-62677200	ZNF genes & repeats	Fetal Lung	lung
12	chr1:62674000-62677200	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr1:62674400-62676800	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
14	chr1:62674400-62678800	Weak transcription	Colonic Mucosa	Colon
15	chr1:62675000-62676400	Strong transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr1:62675400-62676200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr1:62675400-62676200	Enhancers	Primary monocytes fromperipheralblood	blood
18	chr1:62675400-62676400	Enhancers	Muscle Satellite Cultured Cells	--
19	chr1:62675400-62676400	Enhancers	HSMM	muscle
20	chr1:62675400-62676800	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr1:62675400-62677000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
22	chr1:62675400-62677000	Enhancers	Monocytes-CD14+_RO01746	blood
23	chr1:62675600-62676200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr1:62675600-62676200	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr1:62675600-62676200	ZNF genes & repeats	Fetal Stomach	stomach
26	chr1:62675600-62676200	ZNF genes & repeats	Right Atrium	heart
27	chr1:62675600-62676200	Enhancers	HMEC	breast
28	chr1:62675600-62676400	ZNF genes & repeats	Fetal Muscle Leg	muscle
29	chr1:62675600-62676400	Enhancers	Hela-S3	cervix
30	chr1:62675600-62676400	Enhancers	HSMMtube	muscle
31	chr1:62675600-62677200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
32	chr1:62675800-62676200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
33	chr1:62675800-62677000	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr1:62675800-62677400	Strong transcription	iPS-15b Cell Line	embryonic stem cell
35	chr1:62675800-62684600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr1:62676000-62676200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr1:62676000-62676400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr1:62676000-62676600	ZNF genes & repeats	NHEK	skin

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