Variant report

Variant	rs2279903
Chromosome Location	chr7:65447182-65447183
allele	C/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	STAT1	chr7:65446965-65447414	GM12878	blood:	n/a	n/a
2	YY1	chr7:65446965-65447459	GM12891	blood:	n/a	chr7:65447281-65447303 chr7:65447320-65447334 chr7:65447279-65447298 chr7:65447280-65447292 chr7:65447284-65447292
3	TAF1	chr7:65446974-65447468	SK-N-SH	brain:	n/a	n/a
4	POLR2A	chr7:65446941-65447545	HUVEC	blood vessel:	n/a	n/a
5	E2F6	chr7:65446783-65447525	A549	lung:	n/a	chr7:65447021-65447036 chr7:65446814-65446824
6	FOS	chr7:65447173-65447318	MCF10A-Er-Src	breast:	n/a	n/a
7	POU2F2	chr7:65447006-65447444	GM12891	blood:	n/a	n/a
8	YY1	chr7:65447078-65447464	GM12892	blood:	n/a	chr7:65447281-65447303 chr7:65447320-65447334 chr7:65447279-65447298 chr7:65447280-65447292 chr7:65447284-65447292
9	CEBPB	chr7:65447065-65447553	Hela-S3	cervix:	n/a	n/a
10	POLR2A	chr7:65446849-65447541	GM12878	blood:	n/a	n/a
11	NR3C1	chr7:65447006-65447353	A549	lung:	n/a	chr7:65447281-65447295
12	HA-E2F1	chr7:65446776-65447465	Hela-S3	cervix:	n/a	chr7:65447214-65447225 chr7:65446814-65446824
13	CTCF	chr7:65447180-65447430	AG04449	skin:	n/a	n/a
14	E2F6	chr7:65446845-65447410	K562	blood:	n/a	chr7:65447021-65447036
15	FOXP2	chr7:65446977-65447463	PFSK-1	brain:	n/a	n/a
16	REST	chr7:65446968-65447538	H1-neurons	neurons:	n/a	chr7:65447326-65447336
17	USF1	chr7:65446971-65447563	SK-N-SH	brain:	n/a	chr7:65447320-65447336
18	ATF3	chr7:65446956-65447515	H1-hESC	embryonic stem cell:	n/a	chr7:65447245-65447265 chr7:65447240-65447260
19	MAX	chr7:65446651-65447601	A549	lung:	n/a	n/a
20	ELF1	chr7:65447012-65447354	HepG2	liver:	n/a	chr7:65447321-65447333
21	POLR2A	chr7:65446944-65447529	GM12878	blood:	n/a	n/a
22	TAF1	chr7:65447066-65447354	GM12878	blood:	n/a	n/a
23	POLR2A	chr7:65446921-65447542	GM18951	blood:	n/a	n/a
24	CHD2	chr7:65447013-65447556	Hela-S3	cervix:	n/a	n/a
25	SIX5	chr7:65446841-65447750	A549	lung:	n/a	n/a
26	HEY1	chr7:65446813-65447740	K562	blood:	n/a	chr7:65447552-65447567
27	SP1	chr7:65446962-65447477	K562	blood:	n/a	chr7:65447317-65447327 chr7:65447316-65447328 chr7:65447318-65447327 chr7:65447313-65447327 chr7:65447318-65447327 chr7:65447317-65447326 chr7:65447316-65447328 chr7:65447317-65447327
28	HEY1	chr7:65446576-65447549	K562	blood:	n/a	n/a
29	MYC	chr7:65447169-65447314	Hela-S3	cervix:	n/a	n/a
30	MAFK	chr7:65447135-65447424	K562	blood:	n/a	n/a
31	YY1	chr7:65446896-65447494	ECC-1	luminal epithelium:	n/a	chr7:65447281-65447303 chr7:65447320-65447334 chr7:65447279-65447298 chr7:65447280-65447292 chr7:65447284-65447292
32	ZNF263	chr7:65446940-65447642	HEK293-T-REx	kidney:	n/a	n/a
33	RCOR1	chr7:65446921-65447775	HepG2	liver:	n/a	n/a
34	CREB1	chr7:65446905-65447608	GM12878	blood:	n/a	n/a
35	YY1	chr7:65446867-65447509	GM12891	blood:	n/a	chr7:65447281-65447303 chr7:65447320-65447334 chr7:65447279-65447298 chr7:65447280-65447292 chr7:65447284-65447292
36	ATF3	chr7:65447143-65447363	GM12878	blood:	n/a	chr7:65447245-65447265 chr7:65447240-65447260
37	POLR2A	chr7:65446793-65447537	PANC-1	pancreas:	n/a	n/a
38	POLR2A	chr7:65446591-65447801	K562	blood:	n/a	n/a
39	TAF1	chr7:65446940-65447487	HepG2	liver:	n/a	n/a
40	SIN3AK20	chr7:65447019-65447290	SK-N-SH	brain:	n/a	n/a
41	EGR1	chr7:65447058-65447367	GM12878	blood:	n/a	n/a
42	YY1	chr7:65446759-65447771	HepG2	liver:	n/a	chr7:65447281-65447303 chr7:65447320-65447334 chr7:65447279-65447298 chr7:65447280-65447292 chr7:65447284-65447292
43	POLR2A	chr7:65446891-65447389	GM12892	blood:	n/a	n/a
44	YY1	chr7:65447101-65447408	K562	blood:	n/a	chr7:65447281-65447303 chr7:65447320-65447334 chr7:65447279-65447298 chr7:65447280-65447292 chr7:65447284-65447292
45	JUND	chr7:65446986-65447740	K562	blood:	n/a	n/a
46	SIN3A	chr7:65446853-65447652	H1-hESC	embryonic stem cell:	n/a	chr7:65447327-65447336
47	REST	chr7:65446997-65447425	PANC-1	pancreas:	n/a	chr7:65447326-65447336
48	ELF1	chr7:65446961-65447474	HepG2	liver:	n/a	chr7:65447321-65447333
49	USF1	chr7:65447031-65447422	GM12878	blood:	n/a	chr7:65447320-65447336
50	RFX5	chr7:65447110-65447404	GM12878	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:65447138-65447188	A549	lung:	n/a
2	chr7:65447138-65447188	SAEC	small airway:	n/a
3	chr7:65447138-65447188	MCF10A-Er-Src	breast:	n/a
4	chr7:65447138-65447188	PFSK-1	brain:	n/a
5	chr7:65447138-65447188	U87	brain:	n/a
6	chr7:65447138-65447188	HAEpiC	amniotic membrane:	n/a
7	chr7:65447138-65447188	HepG2	liver:	n/a
8	chr7:65447138-65447188	HEK293	kidney:	embryo
9	chr7:65447138-65447188	Hela-S3	cervix:	n/a
10	chr7:65447138-65447188	ovcar-3	ovarian:	n/a
11	chr7:65447138-65447188	HCF	heart:	n/a
12	chr7:65447138-65447188	AG04450	lung:	fetal
13	chr7:65447138-65447188	MCF-7	breast:	n/a
14	chr7:65447138-65447188	BJ	skin:	n/a
15	chr7:65447138-65447188	Hepatocyte	liver:	n/a
16	chr7:65447138-65447188	ProgFib	skin:	n/a
17	chr7:65447138-65447188	HCM	heart:	n/a
18	chr7:65447138-65447188	AG10803	skin:	n/a
19	chr7:65447138-65447188	IMR90	lung:	fetal
20	chr7:65447138-65447188	HRCEpiC	kidney:	n/a
21	chr7:65447138-65447188	GM12878	blood:	n/a
22	chr7:65447138-65447188	NHBE	bronchial:	n/a
23	chr7:65447138-65447188	HIPEpiC	eye:	n/a
24	chr7:65447138-65447188	HNPCEpiC	eye:	n/a
25	chr7:65447138-65447188	GM06990	blood:	n/a
26	chr7:65447138-65447188	HCT-116	colon:	n/a
27	chr7:65447138-65447188	HUVEC	blood vessel:	n/a
28	chr7:65447138-65447188	H1-hESC	embryonic stem cell:	embryo
29	chr7:65447138-65447188	AoSMC	blood vessel:	n/a
30	chr7:65447138-65447188	AG09309	skin:	n/a
31	chr7:65447138-65447188	HRPEpiC	eye:	n/a
32	chr7:65447138-65447188	LNCaP	prostate:	n/a
33	chr7:65447138-65447188	AG09319	gingival:	n/a
34	chr7:65447138-65447188	CMK	blood:	n/a
35	chr7:65447138-65447188	HRE	kidney:	n/a
36	chr7:65447138-65447188	HL-60	blood:	n/a
37	chr7:65447138-65447188	ECC-1	luminal epithelium:	n/a
38	chr7:65447138-65447188	K562	blood:	n/a
39	chr7:65447138-65447188	SKMC	muscle:	n/a
40	chr7:65447138-65447188	GM12892	blood:	n/a
41	chr7:65447138-65447188	HCPEpiC	choroid plexus:	n/a
42	chr7:65447138-65447188	GM19239	blood:	n/a
43	chr7:65447138-65447188	SK-N-SH_RA	brain:	n/a
44	chr7:65447138-65447188	SK-N-MC	brain:	n/a
45	chr7:65447138-65447188	T-47D	breast:	n/a
46	chr7:65447138-65447188	HMEC	breast:	n/a
47	chr7:65447138-65447188	NT2-D1	testis:	n/a
48	chr7:65447138-65447188	Jurkat	blood:	n/a
49	chr7:65447138-65447188	PrEC	prostate:	n/a
50	chr7:65447138-65447188	NH-A	brain:	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:65337864..65339398-chr7:65445758..65448693,2	K562	blood:
2	chr7:65431377..65432977-chr7:65445764..65448122,2	K562	blood:
3	chr7:65445709..65448649-chr7:65579782..65581390,2	K562	blood:
4	chr12:57039358..57039922-chr7:65446744..65447549,2	Hela-S3	cervix:
5	chr11:10829765..10830505-chr7:65446635..65447376,2	Hela-S3	cervix:

Variant related genes	Relation type
GUSB	TF binding region
GUSB	CpG island
ENSG00000110321	Chromatin interaction
ENSG00000196715	Chromatin interaction
ENSG00000110955	Chromatin interaction
ENSG00000169919	Chromatin interaction
ENSG00000241258	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs3735144	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs57737362	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs58600265	1.00[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs58976916	1.00[AMR][1000 genomes]
rs59697660	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs60220916	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60748223	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61240358	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61665304	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs73368787	0.81[AFR][1000 genomes]
rs73368792	1.00[AFR][1000 genomes]
rs73368796	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73370623	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs73370679	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs73370687	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs73372603	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs73372614	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs73372618	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs73372623	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73372662	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73372665	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73372688	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73372692	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73372693	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9638231	1.00[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs9638481	1.00[AMR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2761079	chr7:65092426-65689733	Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers Strong transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
2	nsv1020337	chr7:65371505-65449654	Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv532124	chr7:65371521-66234730	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	125 gene(s)	inside rSNPs	diseases
4	nsv1025494	chr7:65402301-65515606	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv538906	chr7:65402301-65515606	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
6	nsv888321	chr7:65408904-65449541	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
7	esv9823	chr7:65413362-65468020	Strong transcription Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
8	esv3426468	chr7:65413488-65462982	Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
9	esv3433491	chr7:65414034-65463477	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
10	nsv1028971	chr7:65414064-65457437	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
11	nsv888322	chr7:65415647-65466565	Enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
12	nsv538907	chr7:65417400-65456089	Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
13	nsv888323	chr7:65418355-65461080	ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
14	nsv888324	chr7:65418876-65466565	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
15	nsv967489	chr7:65445874-65469129	Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	6 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	chr7:65445400-65447600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
2	chr7:65445600-65447400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr7:65445600-65447600	Active TSS	iPS-15b Cell Line	embryonic stem cell
4	chr7:65445600-65447800	Active TSS	iPS-20b Cell Line	embryonic stem cell
5	chr7:65445600-65447800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
6	chr7:65445600-65447800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr7:65445800-65447400	Active TSS	Colonic Mucosa	Colon
8	chr7:65445800-65447600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr7:65445800-65447600	Active TSS	HUES64 Cell Line	embryonic stem cell
10	chr7:65445800-65447600	Flanking Active TSS	Primary B cells from cord blood	blood
11	chr7:65445800-65447800	Active TSS	H9 Cell Line	embryonic stem cell
12	chr7:65445800-65447800	Active TSS	Fetal Kidney	kidney
13	chr7:65446000-65447400	Active TSS	HUES48 Cell Line	embryonic stem cell
14	chr7:65446000-65447400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr7:65446000-65447400	Active TSS	Esophagus	oesophagus
16	chr7:65446000-65447400	Active TSS	Rectal Mucosa Donor 29	rectum
17	chr7:65446000-65447400	Active TSS	GM12878-XiMat	blood
18	chr7:65446000-65447600	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
19	chr7:65446000-65447600	Active TSS	Pancreatic Islets	Pancreatic Islet
20	chr7:65446000-65447600	Active TSS	HSMMtube	muscle
21	chr7:65446000-65447800	Active TSS	HUES6 Cell Line	embryonic stem cell
22	chr7:65446000-65447800	Active TSS	iPS-18 Cell Line	embryonic stem cell
23	chr7:65446000-65447800	Flanking Active TSS	Primary hematopoietic stem cells	blood
24	chr7:65446000-65447800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr7:65446200-65447200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr7:65446200-65447200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr7:65446200-65447200	Active TSS	Primary T killer memory cells from peripheral blood	blood
28	chr7:65446200-65447200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr7:65446200-65447200	Active TSS	Rectal Mucosa Donor 31	rectum
30	chr7:65446200-65447200	Active TSS	Dnd41	blood
31	chr7:65446200-65447400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr7:65446200-65447400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr7:65446200-65447400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
34	chr7:65446200-65447400	Active TSS	Muscle Satellite Cultured Cells	--
35	chr7:65446200-65447400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr7:65446200-65447400	Active TSS	Brain Angular Gyrus	brain
37	chr7:65446200-65447400	Active TSS	Brain Anterior Caudate	brain
38	chr7:65446200-65447400	Active TSS	Brain Cingulate Gyrus	brain
39	chr7:65446200-65447400	Active TSS	Gastric	stomach
40	chr7:65446200-65447400	Active TSS	Left Ventricle	heart
41	chr7:65446200-65447400	Active TSS	Psoas Muscle	Psoas
42	chr7:65446200-65447400	Active TSS	Skeletal Muscle Female	skeletal muscle
43	chr7:65446200-65447400	Active TSS	A549	lung
44	chr7:65446200-65447400	Active TSS	Hela-S3	cervix
45	chr7:65446200-65447400	Active TSS	HMEC	breast
46	chr7:65446200-65447400	Active TSS	K562	blood
47	chr7:65446200-65447400	Active TSS	NHLF	lung
48	chr7:65446200-65447600	Active TSS	ES-I3 Cell Line	embryonic stem cell
49	chr7:65446200-65447600	Active TSS	H1 Cell Line	embryonic stem cell
50	chr7:65446200-65447600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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