Variant report

Variant	rs542694416
Chromosome Location	chr7:25991026-25991027
allele	A/G
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	USF1	chr7:25990674-25991094	A549	lung:	n/a	chr7:25990931-25990944 chr7:25990933-25990942 chr7:25990933-25990942 chr7:25990932-25990941
2	SIN3A	chr7:25989265-25991735	H1-hESC	embryonic stem cell:	n/a	chr7:25990195-25990206 chr7:25990193-25990206 chr7:25991169-25991182 chr7:25990724-25990737 chr7:25991166-25991175 chr7:25991177-25991190 chr7:25990883-25990894
3	POLR2A	chr7:25985526-25991809	GM19099	blood:	n/a	n/a
4	HDAC2	chr7:25990493-25991493	MCF-7	breast:	n/a	chr7:25990768-25990776
5	ATF3	chr7:25990814-25991075	H1-hESC	embryonic stem cell:	n/a	chr7:25990933-25990953
6	FOXA2	chr7:25990695-25991182	A549	lung:	n/a	n/a
7	E2F6	chr7:25990502-25991297	K562	blood:	n/a	chr7:25990861-25990876 chr7:25990831-25990840 chr7:25990577-25990587
8	POU2F2	chr7:25990638-25991168	GM12878	blood:	n/a	chr7:25990971-25990981 chr7:25990966-25990984 chr7:25990968-25990983 chr7:25990971-25990980 chr7:25990971-25990979 chr7:25990972-25990979 chr7:25990969-25990980 chr7:25990970-25990980 chr7:25990964-25990985
9	MAFF	chr7:25990654-25991027	HepG2	liver:	n/a	chr7:25990898-25990916
10	HCFC1	chr7:25990603-25991327	K562	blood:	n/a	n/a
11	HEY1	chr7:25991024-25991454	HepG2	liver:	n/a	chr7:25991265-25991280
12	TAF1	chr7:25991023-25991252	HepG2	liver:	n/a	n/a
13	MAX	chr7:25990136-25991357	HepG2	liver:	n/a	chr7:25990932-25990943 chr7:25991249-25991259
14	POLR2A	chr7:25990545-25991348	HEK293	kidney:	n/a	n/a
15	MAX	chr7:25989822-25991418	H1-hESC	embryonic stem cell:	n/a	chr7:25990932-25990943 chr7:25991249-25991259
16	CHD2	chr7:25990274-25991363	GM12878	blood:	n/a	chr7:25990731-25990741 chr7:25990920-25990930 chr7:25990411-25990421
17	MAX	chr7:25990528-25991540	MCF-7	breast:	n/a	chr7:25990932-25990943 chr7:25991249-25991259
18	TCF12	chr7:25990587-25991450	ECC-1	luminal epithelium:	n/a	n/a
19	EGR1	chr7:25990809-25991281	GM12878	blood:	n/a	chr7:25990912-25990926 chr7:25990830-25990840 chr7:25991177-25991187
20	FOXP2	chr7:25990536-25991281	PFSK-1	brain:	n/a	n/a
21	POLR2A	chr7:25987021-25992694	HepG2	liver:	n/a	n/a
22	NR2F2	chr7:25990654-25991038	K562	blood:	n/a	chr7:25990835-25990850
23	POLR2A	chr7:25986974-25991365	HepG2	liver:	n/a	n/a
24	CREB1	chr7:25989239-25991492	HepG2	liver:	n/a	n/a
25	E2F6	chr7:25991009-25991192	K562	blood:	n/a	n/a
26	POLR2A	chr7:25989708-25991441	HL-60	blood:	n/a	n/a
27	E2F4	chr7:25990619-25991076	K562	blood:	n/a	chr7:25990861-25990876 chr7:25990831-25990840
28	MAX	chr7:25990686-25991427	K562	blood:	n/a	chr7:25990932-25990943 chr7:25991249-25991259
29	NR2C2	chr7:25990635-25991036	GM12878	blood:	n/a	chr7:25990835-25990850 chr7:25990837-25990850
30	GTF2F1	chr7:25990680-25991344	H1-hESC	embryonic stem cell:	n/a	n/a
31	POLR2A	chr7:25990573-25991458	GM12891	blood:	n/a	n/a
32	TEAD4	chr7:25990573-25991032	ECC-1	luminal epithelium:	n/a	n/a
33	USF2	chr7:25990755-25991081	HepG2	liver:	n/a	chr7:25990931-25990944 chr7:25990933-25990942 chr7:25990933-25990942 chr7:25990932-25990941
34	CEBPD	chr7:25990637-25991360	HepG2	liver:	n/a	n/a
35	MAZ	chr7:25990681-25991679	GM12878	blood:	n/a	chr7:25990932-25990943 chr7:25991249-25991259
36	USF1	chr7:25990637-25991139	K562	blood:	n/a	chr7:25990931-25990944 chr7:25990933-25990942 chr7:25990933-25990942 chr7:25990932-25990941
37	MXI1	chr7:25990585-25991346	HepG2	liver:	n/a	n/a
38	TCF7L2	chr7:25990575-25991329	HCT-116	colon:	n/a	n/a
39	POLR2A	chr7:25991002-25991276	GM12878	blood:	n/a	n/a
40	POLR2A	chr7:25986274-25991748	GM18526	blood:	n/a	n/a
41	USF1	chr7:25990625-25991212	HCT-116	colon:	n/a	chr7:25990931-25990944 chr7:25990933-25990942 chr7:25990933-25990942 chr7:25990932-25990941
42	POLR2A	chr7:25990592-25991465	MCF-7	breast:	n/a	n/a
43	ZNF143	chr7:25990617-25991306	GM12878	blood:	n/a	chr7:25990702-25990712 chr7:25990683-25990702 chr7:25990621-25990631
44	TCF12	chr7:25991000-25991267	GM12878	blood:	n/a	n/a
45	EGR1	chr7:25990705-25991271	H1-hESC	embryonic stem cell:	n/a	chr7:25990912-25990926 chr7:25990830-25990840 chr7:25991177-25991187
46	E2F6	chr7:25991017-25991401	H1-hESC	embryonic stem cell:	n/a	n/a
47	POLR2A	chr7:25990218-25991696	MCF-7	breast:	n/a	n/a
48	MYC	chr7:25990003-25991087	K562	blood:	n/a	chr7:25990932-25990943
49	CHD2	chr7:25990163-25991357	HepG2	liver:	n/a	chr7:25990731-25990741 chr7:25990920-25990930 chr7:25990411-25990421
50	USF1	chr7:25990612-25991301	ECC-1	luminal epithelium:	n/a	chr7:25990931-25990944 chr7:25990933-25990942 chr7:25990933-25990942 chr7:25990932-25990941

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:25991025-25991075	NHBE	bronchial:	n/a
2	chr7:25991025-25991075	GM19239	blood:	n/a
3	chr7:25991025-25991075	CMK	blood:	n/a
4	chr7:25991025-25991075	AG09319	gingival:	n/a
5	chr7:25991025-25991075	BJ	skin:	n/a
6	chr7:25991025-25991075	HMEC	breast:	n/a
7	chr7:25991025-25991075	HUVEC	blood vessel:	n/a
8	chr7:25991025-25991075	AG10803	skin:	n/a
9	chr7:25991025-25991075	NHDF-neo	bronchial:	n/a
10	chr7:25991025-25991075	Jurkat	blood:	n/a
11	chr7:25991025-25991075	Hela-S3	cervix:	n/a
12	chr7:25991025-25991075	HEEpiC	esophagus:	n/a
13	chr7:25991025-25991075	H1-hESC	embryonic stem cell:	embryo
14	chr7:25991025-25991075	Hepatocyte	liver:	n/a
15	chr7:25991025-25991075	GM12878	blood:	n/a
16	chr7:25991025-25991075	NB4	blood:	n/a
17	chr7:25991025-25991075	PANC-1	pancreas:	n/a
18	chr7:25991025-25991075	PFSK-1	brain:	n/a
19	chr7:25991025-25991075	HRE	kidney:	n/a
20	chr7:25991025-25991075	HIPEpiC	eye:	n/a
21	chr7:25991025-25991075	K562	blood:	n/a
22	chr7:25991025-25991075	MCF10A-Er-Src	breast:	n/a
23	chr7:25991025-25991075	HRPEpiC	eye:	n/a
24	chr7:25991025-25991075	GM12892	blood:	n/a
25	chr7:25991025-25991075	HCPEpiC	choroid plexus:	n/a
26	chr7:25991025-25991075	ProgFib	skin:	n/a
27	chr7:25991025-25991075	AG04450	lung:	fetal
28	chr7:25991025-25991075	ovcar-3	ovarian:	n/a
29	chr7:25991025-25991075	HPAEpiC	pulmonary alveolar:	n/a
30	chr7:25991025-25991075	HCT-116	colon:	n/a
31	chr7:25991025-25991075	PrEC	prostate:	n/a
32	chr7:25991025-25991075	NH-A	brain:	n/a
33	chr7:25991025-25991075	NT2-D1	testis:	n/a
34	chr7:25991025-25991075	RPTEC	kidney:	n/a
35	chr7:25991025-25991075	Caco-2	colon:	n/a
36	chr7:25991025-25991075	MCF-7	breast:	n/a
37	chr7:25991025-25991075	GM12891	blood:	n/a
38	chr7:25991025-25991075	ECC-1	luminal epithelium:	n/a
39	chr7:25991025-25991075	HAEpiC	amniotic membrane:	n/a
40	chr7:25991025-25991075	SK-N-SH_RA	brain:	n/a
41	chr7:25991025-25991075	HepG2	liver:	n/a
42	chr7:25991025-25991075	SAEC	small airway:	n/a
43	chr7:25991025-25991075	SK-N-MC	brain:	n/a
44	chr7:25991025-25991075	U87	brain:	n/a
45	chr7:25991025-25991075	HRCEpiC	kidney:	n/a
46	chr7:25991025-25991075	HEK293	kidney:	embryo
47	chr7:25991025-25991075	HCM	heart:	n/a
48	chr7:25991025-25991075	A549	lung:	n/a
49	chr7:25991025-25991075	AG04449	skin:	fetal
50	chr7:25991025-25991075	HCF	heart:	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:25932775..25935474-chr7:25989853..25992220,2	K562	blood:
2	chr7:25990509..25992566-chr7:25994471..25996898,2	K562	blood:
3	chr7:25990207..25991830-chr7:26094178..26097069,2	MCF-7	breast:
4	chr7:25965773..25968588-chr7:25989969..25992378,2	MCF-7	breast:
5	chr7:25990038..25992521-chr7:26240210..26242861,2	MCF-7	breast:
6	chr7:25990295..25993400-chr7:26020103..26023231,3	MCF-7	breast:
7	chr7:25990769..25992627-chr7:25993165..25995306,2	MCF-7	breast:
8	chr7:25990709..25992651-chr7:26072086..26075062,2	MCF-7	breast:
9	chr7:25990219..25991822-chr7:25999068..26002038,2	K562	blood:
10	chr7:25989265..25991851-chr7:26238825..26240746,4	MCF-7	breast:
11	chr7:25901871..25903514-chr7:25989852..25991943,2	K562	blood:
12	chr7:25989811..25992726-chr7:26096097..26097704,2	MCF-7	breast:
13	chr7:25901385..25904121-chr7:25989908..25991928,2	MCF-7	breast:
14	chr7:25990548..25994647-chr7:26001939..26005377,4	MCF-7	breast:
15	chr7:25952760..25954350-chr7:25989892..25992459,2	K562	blood:
16	chr7:25990246..25992488-chr7:26100564..26102799,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000270933	TF binding region
MIR148A	TF binding region
MIR148A	CpG island
ENSG00000270933	CpG island
ENSG00000122565	Chromatin interaction
ENSG00000122566	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016813	chr7:25405859-26150509	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	108 gene(s)	inside rSNPs	diseases
2	nsv538803	chr7:25405859-26150509	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	108 gene(s)	inside rSNPs	diseases
3	nsv606432	chr7:25988185-26223294	Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	102 gene(s)	inside rSNPs	diseases
4	esv3394736	chr7:25989527-25992275	Flanking Active TSS Bivalent/Poised TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA	90 gene(s)	inside rSNPs	diseases
5	esv3425784	chr7:25989652-25992200	Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:25987200-25993200	Active TSS	Pancreas	Pancrea
2	chr7:25987800-25992800	Active TSS	Pancreatic Islets	Pancreatic Islet
3	chr7:25989000-25991400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr7:25989200-25991400	Active TSS	iPS-18 Cell Line	embryonic stem cell
5	chr7:25989200-25991600	Active TSS	Rectal Smooth Muscle	rectum
6	chr7:25989200-25992600	Active TSS	ES-I3 Cell Line	embryonic stem cell
7	chr7:25989400-25991400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr7:25989400-25991400	Active TSS	HUES64 Cell Line	embryonic stem cell
9	chr7:25989400-25991400	Active TSS	iPS-15b Cell Line	embryonic stem cell
10	chr7:25989400-25991400	Active TSS	iPS-20b Cell Line	embryonic stem cell
11	chr7:25989400-25991400	Active TSS	Gastric	stomach
12	chr7:25989400-25991600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr7:25989400-25991600	Active TSS	HUES48 Cell Line	embryonic stem cell
14	chr7:25989400-25991600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr7:25989400-25991800	Active TSS	Fetal Kidney	kidney
16	chr7:25989400-25992000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr7:25989400-25992400	Active TSS	H9 Cell Line	embryonic stem cell
18	chr7:25989600-25991200	Active TSS	GM12878-XiMat	blood
19	chr7:25989600-25991400	Active TSS	H1 Cell Line	embryonic stem cell
20	chr7:25989600-25991400	Active TSS	HUES6 Cell Line	embryonic stem cell
21	chr7:25989600-25991400	Active TSS	Esophagus	oesophagus
22	chr7:25989600-25991400	Active TSS	Sigmoid Colon	Sigmoid Colon
23	chr7:25989600-25991400	Bivalent/Poised TSS	NH-A	brain
24	chr7:25989600-25991600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr7:25989600-25991600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
26	chr7:25989600-25991800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr7:25989600-25991800	Active TSS	Ovary	ovary
28	chr7:25989600-25992000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
29	chr7:25989600-25992000	Active TSS	Breast Myoepithelial Primary Cells	Breast
30	chr7:25989800-25991200	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr7:25989800-25991200	Bivalent/Poised TSS	HSMMtube	muscle
32	chr7:25989800-25991400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr7:25989800-25991400	Active TSS	Aorta	Aorta
34	chr7:25989800-25991400	Active TSS	Psoas Muscle	Psoas
35	chr7:25989800-25991400	Active TSS	Small Intestine	intestine
36	chr7:25989800-25991600	Active TSS	Stomach Mucosa	stomach
37	chr7:25989800-25991600	Active TSS	Thymus	Thymus
38	chr7:25990000-25991200	Active TSS	Liver	Liver
39	chr7:25990000-25991200	Active TSS	Lung	lung
40	chr7:25990000-25991200	Active TSS	Right Ventricle	heart
41	chr7:25990000-25991200	Active TSS	Stomach Smooth Muscle	stomach
42	chr7:25990000-25991200	Active TSS	K562	blood
43	chr7:25990000-25991200	Active TSS	NHEK	skin
44	chr7:25990000-25991400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr7:25990000-25991400	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr7:25990000-25991400	Active TSS	Primary T killer memory cells from peripheral blood	blood
47	chr7:25990000-25991400	Bivalent/Poised TSS	Fetal Stomach	stomach
48	chr7:25990000-25991400	Bivalent/Poised TSS	HSMM	muscle
49	chr7:25990000-25991600	Flanking Active TSS	Primary B cells from cord blood	blood
50	chr7:25990000-25991600	Flanking Active TSS	Primary hematopoietic stem cells	blood

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