Variant report

Variant	rs2069092
Chromosome Location	chr4:106830991-106830992
allele	A/C
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	MAX	chr4:106830860-106831642	Hela-S3	cervix:	n/a	n/a
2	FOS	chr4:106830788-106831553	MCF10A-Er-Src	breast:	n/a	chr4:106831368-106831377 chr4:106831073-106831081 chr4:106831069-106831080
3	MXI1	chr4:106830940-106831440	Hela-S3	cervix:	n/a	n/a
4	MYC	chr4:106830930-106831048	Hela-S3	cervix:	n/a	n/a
5	CEBPB	chr4:106830804-106831583	HCT-116	colon:	n/a	n/a
6	USF1	chr4:106830809-106831309	H1-hESC	embryonic stem cell:	n/a	n/a
7	STAT3	chr4:106830913-106831522	MCF10A-Er-Src	breast:	n/a	n/a
8	FOS	chr4:106830878-106831544	Hela-S3	cervix:	n/a	chr4:106831368-106831377 chr4:106831073-106831081 chr4:106831069-106831080
9	STAT3	chr4:106830860-106831508	MCF10A-Er-Src	breast:	n/a	n/a
10	POLR2A	chr4:106830831-106831162	MCF10A-Er-Src	breast:	n/a	n/a
11	USF1	chr4:106830809-106831286	ECC-1	luminal epithelium:	n/a	n/a
12	RCOR1	chr4:106830809-106831593	Hela-S3	cervix:	n/a	n/a
13	RAD21	chr4:106830907-106831595	Hela-S3	cervix:	n/a	n/a
14	PRDM1	chr4:106830860-106831165	Hela-S3	cervix:	n/a	chr4:106830975-106830989 chr4:106830974-106830989
15	JUND	chr4:106830787-106831636	HCT-116	colon:	n/a	chr4:106831368-106831377 chr4:106831366-106831377 chr4:106831073-106831081 chr4:106831069-106831080
16	MAX	chr4:106830860-106831595	Hela-S3	cervix:	n/a	n/a
17	SP1	chr4:106830726-106831683	HCT-116	colon:	n/a	n/a
18	FOS	chr4:106830851-106831553	MCF10A-Er-Src	breast:	n/a	chr4:106831368-106831377 chr4:106831073-106831081 chr4:106831069-106831080
19	MYC	chr4:106830862-106831511	MCF10A-Er-Src	breast:	n/a	n/a
20	FOSL1	chr4:106830739-106831673	HCT-116	colon:	n/a	chr4:106831368-106831377 chr4:106831073-106831081 chr4:106831069-106831080
21	JUND	chr4:106830861-106831552	Hela-S3	cervix:	n/a	chr4:106831368-106831377 chr4:106831366-106831377 chr4:106831073-106831081 chr4:106831069-106831080
22	SMC3	chr4:106830831-106831467	Hela-S3	cervix:	n/a	n/a
23	JUN	chr4:106830868-106831533	Hela-S3	cervix:	n/a	chr4:106831368-106831377 chr4:106831073-106831081 chr4:106831069-106831080
24	CBX3	chr4:106830733-106831648	HCT-116	colon:	n/a	n/a
25	TCF7L2	chr4:106830881-106831447	Hela-S3	cervix:	n/a	n/a
26	USF1	chr4:106830783-106831355	HCT-116	colon:	n/a	n/a
27	USF1	chr4:106830917-106831242	H1-hESC	embryonic stem cell:	n/a	n/a
28	CEBPB	chr4:106830821-106831602	HCT-116	colon:	n/a	n/a
29	USF1	chr4:106830787-106831352	HCT-116	colon:	n/a	n/a
30	TBP	chr4:106830895-106831624	Hela-S3	cervix:	n/a	n/a
31	TCF12	chr4:106830903-106831111	H1-hESC	embryonic stem cell:	n/a	n/a
32	TCF12	chr4:106830781-106831109	H1-hESC	embryonic stem cell:	n/a	n/a
33	EP300	chr4:106830840-106831612	Hela-S3	cervix:	n/a	chr4:106831028-106831035 chr4:106831575-106831589 chr4:106831367-106831376
34	STAT3	chr4:106830909-106831562	MCF10A-Er-Src	breast:	n/a	n/a
35	USF2	chr4:106830898-106831246	Hela-S3	cervix:	n/a	chr4:106831075-106831086
36	MAX	chr4:106830645-106831299	HCT-116	colon:	n/a	n/a
37	SP1	chr4:106830806-106831650	HCT-116	colon:	n/a	n/a
38	MAX	chr4:106830721-106831356	HCT-116	colon:	n/a	n/a
39	FOS	chr4:106830805-106831561	MCF10A-Er-Src	breast:	n/a	chr4:106831368-106831377 chr4:106831073-106831081 chr4:106831069-106831080
40	STAT3	chr4:106830902-106831522	Hela-S3	cervix:	n/a	n/a
41	MYC	chr4:106830852-106831223	MCF10A-Er-Src	breast:	n/a	n/a
42	RFX5	chr4:106830906-106831575	Hela-S3	cervix:	n/a	chr4:106831075-106831091
43	CEBPB	chr4:106830849-106831624	Hela-S3	cervix:	n/a	n/a
44	E2F4	chr4:106830903-106831148	MCF10A-Er-Src	breast:	n/a	n/a
45	STAT3	chr4:106830913-106831457	MCF10A-Er-Src	breast:	n/a	n/a
46	FOSL1	chr4:106830803-106831578	HCT-116	colon:	n/a	chr4:106831368-106831377 chr4:106831073-106831081 chr4:106831069-106831080
47	JUND	chr4:106830754-106831559	HCT-116	colon:	n/a	chr4:106831368-106831377 chr4:106831366-106831377 chr4:106831073-106831081 chr4:106831069-106831080

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:106817938..106820838-chr4:106829455..106833276,3	MCF-7	breast:
2	chr4:106826109..106827900-chr4:106828880..106831062,2	K562	blood:

Variant related genes	Relation type
NPNT	TF binding region
ENSG00000168743	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10007955	1.00[CEU][hapmap];0.95[YRI][hapmap];0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10014611	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10021687	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10027609	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10031934	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10032388	0.82[YRI][hapmap];0.90[AFR][1000 genomes]
rs10470990	0.82[YRI][hapmap]
rs11731982	0.82[YRI][hapmap]
rs11930350	0.82[YRI][hapmap]
rs28505995	0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs28540395	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs28542670	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs28690684	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4394002	0.87[AFR][1000 genomes]
rs4571330	0.89[AFR][1000 genomes]
rs4643812	0.91[YRI][hapmap]
rs4699202	0.81[AFR][1000 genomes]
rs4699203	0.83[AFR][1000 genomes]
rs4699204	0.88[AFR][1000 genomes]
rs58094608	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6815439	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6826402	0.83[AFR][1000 genomes]
rs6855132	0.90[YRI][hapmap]
rs73839086	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7664696	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9790337	0.95[AFR][1000 genomes]
rs9992511	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1014993	chr4:106796019-106980727	Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Bivalent Enhancer Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:106818000-106844800	Weak transcription	Psoas Muscle	Psoas
2	chr4:106819200-106836200	Weak transcription	Aorta	Aorta
3	chr4:106819200-106844600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr4:106821800-106844000	Weak transcription	HSMMtube	muscle
5	chr4:106822000-106836200	Weak transcription	Pancreas	Pancrea
6	chr4:106823800-106836400	Weak transcription	Fetal Lung	lung
7	chr4:106824600-106837400	Weak transcription	Small Intestine	intestine
8	chr4:106826200-106845000	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr4:106829600-106833400	Enhancers	Fetal Intestine Large	intestine
10	chr4:106830400-106831000	Enhancers	Rectal Mucosa Donor 31	rectum
11	chr4:106830400-106831800	Enhancers	NHEK	skin
12	chr4:106830400-106832200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr4:106830600-106831600	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr4:106830600-106831600	Enhancers	Duodenum Mucosa	Duodenum
15	chr4:106830600-106832000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr4:106830600-106832600	Weak transcription	Fetal Intestine Small	intestine
17	chr4:106830800-106831200	Enhancers	NHDF-Ad	bronchial
18	chr4:106830800-106831400	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr4:106830800-106831400	Enhancers	HUES48 Cell Line	embryonic stem cell
20	chr4:106830800-106831400	Enhancers	HUES6 Cell Line	embryonic stem cell
21	chr4:106830800-106831400	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr4:106830800-106831400	Enhancers	iPS-18 Cell Line	embryonic stem cell
23	chr4:106830800-106831400	Enhancers	iPS-20b Cell Line	embryonic stem cell
24	chr4:106830800-106831400	Enhancers	Fetal Heart	heart
25	chr4:106830800-106831600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr4:106830800-106831600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr4:106830800-106831600	Enhancers	Stomach Mucosa	stomach
28	chr4:106830800-106831600	Enhancers	HMEC	breast
29	chr4:106830800-106831800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr4:106830800-106831800	Enhancers	Muscle Satellite Cultured Cells	--
31	chr4:106830800-106831800	Enhancers	Hela-S3	cervix

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