Variant report

Variant	rs1468762
Chromosome Location	chr7:7759298-7759299
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	MAX	chr7:7758882-7759304	NB4	blood:	n/a	chr7:7759091-7759101 chr7:7759133-7759142
2	BHLHE40	chr7:7758907-7759340	GM12878	blood:	n/a	n/a
3	FOS	chr7:7758792-7759306	MCF10A-Er-Src	breast:	n/a	n/a
4	MXI1	chr7:7758877-7759501	Hela-S3	cervix:	n/a	n/a
5	RCOR1	chr7:7758894-7759381	GM12878	blood:	n/a	n/a
6	FOS	chr7:7758853-7759307	MCF10A-Er-Src	breast:	n/a	n/a
7	JUN	chr7:7758815-7759441	Hela-S3	cervix:	n/a	chr7:7759130-7759143
8	CEBPB	chr7:7758809-7759405	HCT-116	colon:	n/a	chr7:7759133-7759144 chr7:7758864-7758877
9	CEBPB	chr7:7758162-7759380	Hela-S3	cervix:	n/a	chr7:7759133-7759144 chr7:7758864-7758877
10	CEBPB	chr7:7758891-7759344	ECC-1	luminal epithelium:	n/a	chr7:7759133-7759144
11	FOSL2	chr7:7758724-7759411	SK-N-SH	brain:	n/a	n/a
12	EBF1	chr7:7758998-7759307	GM12878	blood:	n/a	n/a
13	SMC3	chr7:7758891-7759305	GM12878	blood:	n/a	n/a
14	USF1	chr7:7758841-7759310	SK-N-SH	brain:	n/a	n/a
15	MTA3	chr7:7758776-7759412	GM12878	blood:	n/a	n/a
16	POLR2A	chr7:7759286-7759358	Hela-S3	cervix:	n/a	n/a
17	CREB1	chr7:7758899-7759374	GM12878	blood:	n/a	n/a
18	CEBPB	chr7:7758908-7759335	A549	lung:	n/a	chr7:7759133-7759144
19	MYC	chr7:7758759-7759734	MCF10A-Er-Src	breast:	n/a	chr7:7759091-7759101 chr7:7759133-7759142
20	YY1	chr7:7758813-7759325	SK-N-SH	brain:	n/a	n/a
21	NFIC	chr7:7758565-7759472	GM12878	blood:	n/a	n/a
22	TBP	chr7:7758788-7759386	Hela-S3	cervix:	n/a	n/a
23	MYC	chr7:7758873-7759315	K562	blood:	n/a	chr7:7759091-7759101 chr7:7759133-7759142
24	MAX	chr7:7758817-7759325	A549	lung:	n/a	chr7:7759091-7759101 chr7:7759133-7759142
25	FOS	chr7:7758759-7759310	MCF10A-Er-Src	breast:	n/a	n/a
26	EBF1	chr7:7758876-7759384	GM12878	blood:	n/a	n/a
27	CEBPB	chr7:7758743-7759462	GM12878	blood:	n/a	chr7:7759133-7759144 chr7:7758864-7758877
28	MYC	chr7:7758839-7759309	NB4	blood:	n/a	chr7:7759091-7759101 chr7:7759133-7759142
29	KAP1	chr7:7758870-7759322	U2OS	brain:	n/a	n/a
30	MXI1	chr7:7758700-7759396	IMR90	lung:	n/a	n/a
31	GTF3C2	chr7:7758837-7759338	Hela-S3	cervix:	n/a	n/a
32	MAX	chr7:7758824-7759349	ECC-1	luminal epithelium:	n/a	chr7:7759091-7759101 chr7:7759133-7759142
33	MAX	chr7:7758781-7759368	ECC-1	luminal epithelium:	n/a	chr7:7759091-7759101 chr7:7759133-7759142
34	JUND	chr7:7758669-7759448	SK-N-SH	brain:	n/a	n/a
35	CEBPB	chr7:7758839-7759371	A549	lung:	n/a	chr7:7759133-7759144 chr7:7758864-7758877
36	ZNF384	chr7:7758980-7759758	GM12878	blood:	n/a	n/a
37	BCL11A	chr7:7758931-7759315	GM12878	blood:	n/a	n/a
38	FOS	chr7:7758820-7759309	MCF10A-Er-Src	breast:	n/a	n/a
39	EP300	chr7:7758665-7759365	Hela-S3	cervix:	n/a	chr7:7758862-7758876 chr7:7759130-7759144
40	CEBPB	chr7:7758910-7759403	MCF-7	breast:	n/a	chr7:7759133-7759144
41	CUX1	chr7:7758823-7759439	GM12878	blood:	n/a	n/a
42	EP300	chr7:7758784-7759327	GM12878	blood:	n/a	chr7:7758862-7758876 chr7:7759130-7759144
43	CEBPB	chr7:7758855-7759354	MCF-7	breast:	n/a	chr7:7759133-7759144 chr7:7758864-7758877
44	MAX	chr7:7758773-7759500	Hela-S3	cervix:	n/a	chr7:7759091-7759101 chr7:7759133-7759142
45	GTF2F1	chr7:7758823-7759324	Hela-S3	cervix:	n/a	n/a
46	SIN3AK20	chr7:7758754-7759313	MCF-7	breast:	n/a	n/a
47	NFIC	chr7:7758838-7759335	GM12878	blood:	n/a	n/a
48	EP300	chr7:7758691-7759438	GM12878	blood:	n/a	chr7:7758862-7758876 chr7:7759130-7759144
49	ATF3	chr7:7758803-7759448	HCT-116	colon:	n/a	n/a
50	EP300	chr7:7758783-7759371	GM12878	blood:	n/a	chr7:7758862-7758876 chr7:7759130-7759144

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:7759286-7759336	SAEC	small airway:	n/a
2	chr7:7759286-7759336	NHBE	bronchial:	n/a
3	chr7:7759286-7759336	PrEC	prostate:	n/a
4	chr7:7759286-7759336	HCF	heart:	n/a
5	chr7:7759286-7759336	HUVEC	blood vessel:	n/a
6	chr7:7759286-7759336	T-47D	breast:	n/a
7	chr7:7759286-7759336	SK-N-SH	brain:	n/a
8	chr7:7759286-7759336	HNPCEpiC	eye:	n/a
9	chr7:7759286-7759336	PFSK-1	brain:	n/a
10	chr7:7759286-7759336	K562	blood:	n/a
11	chr7:7759286-7759336	NB4	blood:	n/a
12	chr7:7759286-7759336	HAEpiC	amniotic membrane:	n/a
13	chr7:7759286-7759336	RPTEC	kidney:	n/a
14	chr7:7759286-7759336	GM06990	blood:	n/a
15	chr7:7759286-7759336	HMEC	breast:	n/a
16	chr7:7759286-7759336	HCT-116	colon:	n/a
17	chr7:7759286-7759336	MCF10A-Er-Src	breast:	n/a
18	chr7:7759286-7759336	SKMC	muscle:	n/a
19	chr7:7759286-7759336	AG09309	skin:	n/a
20	chr7:7759286-7759336	AoSMC	blood vessel:	n/a
21	chr7:7759286-7759336	NH-A	brain:	n/a
22	chr7:7759286-7759336	Hepatocyte	liver:	n/a
23	chr7:7759286-7759336	BJ	skin:	n/a
24	chr7:7759286-7759336	HEK293	kidney:	embryo
25	chr7:7759286-7759336	GM12891	blood:	n/a
26	chr7:7759286-7759336	U87	brain:	n/a
27	chr7:7759286-7759336	HPAEpiC	pulmonary alveolar:	n/a
28	chr7:7759286-7759336	A549	lung:	n/a
29	chr7:7759286-7759336	HIPEpiC	eye:	n/a
30	chr7:7759286-7759336	AG09319	gingival:	n/a
31	chr7:7759286-7759336	AG04450	lung:	fetal
32	chr7:7759286-7759336	HepG2	liver:	n/a
33	chr7:7759286-7759336	Hela-S3	cervix:	n/a
34	chr7:7759286-7759336	GM12892	blood:	n/a
35	chr7:7759286-7759336	HRPEpiC	eye:	n/a
36	chr7:7759286-7759336	SK-N-MC	brain:	n/a
37	chr7:7759286-7759336	HRE	kidney:	n/a
38	chr7:7759286-7759336	IMR90	lung:	fetal
39	chr7:7759286-7759336	MCF-7	breast:	n/a
40	chr7:7759286-7759336	AG10803	skin:	n/a
41	chr7:7759286-7759336	HRCEpiC	kidney:	n/a
42	chr7:7759286-7759336	H1-hESC	embryonic stem cell:	embryo
43	chr7:7759286-7759336	HEEpiC	esophagus:	n/a
44	chr7:7759286-7759336	PANC-1	pancreas:	n/a
45	chr7:7759286-7759336	CMK	blood:	n/a
46	chr7:7759286-7759336	GM19239	blood:	n/a
47	chr7:7759286-7759336	ECC-1	luminal epithelium:	n/a
48	chr7:7759286-7759336	HCM	heart:	n/a
49	chr7:7759286-7759336	SK-N-SH_RA	brain:	n/a
50	chr7:7759286-7759336	AG04449	skin:	fetal

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:7758694..7760544-chr7:7776223..7777893,2	MCF-7	breast:

Variant related genes	Relation type
RPA3	TF binding region
RPA3	CpG island
ENSG00000270314	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10262410	0.85[ASN][1000 genomes]
rs10263415	0.84[ASN][1000 genomes]
rs10264890	0.83[ASN][1000 genomes]
rs11508478	0.85[ASN][1000 genomes]
rs11760924	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11773013	0.93[ASN][1000 genomes]
rs11978169	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13234728	0.84[ASN][1000 genomes]
rs13246995	0.93[ASN][1000 genomes]
rs2024371	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2108003	0.85[ASN][1000 genomes]
rs2160138	0.93[ASN][1000 genomes]
rs2348557	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4140802	0.85[ASN][1000 genomes]
rs4140805	0.85[ASN][1000 genomes]
rs4720751	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4725016	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6966726	0.83[ASN][1000 genomes]
rs6967126	0.81[ASN][1000 genomes]
rs7787930	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7805143	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1026758	chr7:7187491-8075259	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
2	nsv606042	chr7:7427535-7876466	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv887477	chr7:7531819-7810122	Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
4	nsv1032670	chr7:7535515-8017077	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
5	nsv8043	chr7:7589195-7862802	Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
6	nsv887478	chr7:7670718-7917360	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
7	nsv887479	chr7:7681131-7779091	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
8	nsv887480	chr7:7681131-7917360	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
9	nsv887481	chr7:7681576-7779324	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
10	nsv887482	chr7:7682439-7785047	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
11	nsv887483	chr7:7682439-7798217	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
12	nsv887484	chr7:7692483-7769363	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
13	nsv887485	chr7:7692483-7917360	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
14	nsv887486	chr7:7712498-7785047	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
15	esv2752177	chr7:7729247-8177689	Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
16	nsv1026564	chr7:7734846-7897847	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
17	nsv887487	chr7:7740914-7802561	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:7737600-7778800	Weak transcription	Primary hematopoietic stem cells	blood
2	chr7:7743600-7762800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr7:7743600-7772800	Weak transcription	Gastric	stomach
4	chr7:7746000-7762400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr7:7747800-7763800	Weak transcription	Left Ventricle	heart
6	chr7:7748200-7772200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr7:7749200-7770800	Weak transcription	Small Intestine	intestine
8	chr7:7750800-7760400	Weak transcription	Primary B cells from cord blood	blood
9	chr7:7752600-7790400	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr7:7755400-7772800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr7:7756800-7765600	Weak transcription	Fetal Intestine Small	intestine
12	chr7:7757000-7770600	Weak transcription	Pancreas	Pancrea
13	chr7:7757200-7760000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr7:7757800-7760800	Weak transcription	Primary B cells from peripheral blood	blood
15	chr7:7758000-7759400	Enhancers	A549	lung
16	chr7:7758000-7759600	Enhancers	Primary T helper cells PMA-I stimulated	--
17	chr7:7758000-7760200	Enhancers	HSMM	muscle
18	chr7:7758200-7759600	Enhancers	NHEK	skin
19	chr7:7758200-7760000	Enhancers	Muscle Satellite Cultured Cells	--
20	chr7:7758200-7761000	Enhancers	Hela-S3	cervix
21	chr7:7758200-7761600	Enhancers	Fetal Thymus	thymus
22	chr7:7758400-7759600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr7:7758400-7759600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
24	chr7:7758400-7759600	Enhancers	HMEC	breast
25	chr7:7758400-7760200	Enhancers	Cortex derived primary cultured neurospheres	brain
26	chr7:7758400-7760200	Enhancers	HSMMtube	muscle
27	chr7:7758400-7760600	Enhancers	Colon Smooth Muscle	Colon
28	chr7:7758400-7760800	Enhancers	Brain Germinal Matrix	brain
29	chr7:7758600-7759400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
30	chr7:7758600-7759800	Flanking Active TSS	Dnd41	blood
31	chr7:7758800-7759400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
32	chr7:7758800-7759400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr7:7758800-7759400	Enhancers	NHDF-Ad	bronchial
34	chr7:7758800-7759600	Enhancers	Primary T cells from cord blood	blood
35	chr7:7758800-7759800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr7:7758800-7759800	Enhancers	NH-A	brain
37	chr7:7759000-7759400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr7:7759000-7760000	Enhancers	Skeletal Muscle Male	skeletal muscle
39	chr7:7759000-7760800	Enhancers	Rectal Smooth Muscle	rectum
40	chr7:7759000-7785800	Weak transcription	Primary T helper cells fromperipheralblood	blood
41	chr7:7759200-7759400	Enhancers	Brain Cingulate Gyrus	brain
42	chr7:7759200-7759400	Enhancers	Brain Hippocampus Middle	brain
43	chr7:7759200-7759800	Enhancers	Brain Inferior Temporal Lobe	brain
44	chr7:7759200-7759800	Weak transcription	Sigmoid Colon	Sigmoid Colon
45	chr7:7759200-7760000	Enhancers	GM12878-XiMat	blood
46	chr7:7759200-7760200	Enhancers	Skeletal Muscle Female	skeletal muscle
47	chr7:7759200-7761000	Enhancers	Thymus	Thymus
48	chr7:7759200-7762000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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