Variant report

Variant	rs544386405
Chromosome Location	chr7:25990669-25990670
allele	C/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	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
2	POLR2A	chr7:25985526-25991809	GM19099	blood:	n/a	n/a
3	USF1	chr7:25990652-25991011	K562	blood:	n/a	chr7:25990931-25990944 chr7:25990933-25990942 chr7:25990933-25990942 chr7:25990932-25990941
4	HDAC2	chr7:25990493-25991493	MCF-7	breast:	n/a	chr7:25990768-25990776
5	POLR2A	chr7:25990526-25990934	H1-hESC	embryonic stem cell:	n/a	n/a
6	E2F6	chr7:25990502-25991297	K562	blood:	n/a	chr7:25990861-25990876 chr7:25990831-25990840 chr7:25990577-25990587
7	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
8	TAF1	chr7:25990531-25991010	ECC-1	luminal epithelium:	n/a	n/a
9	FOXA1	chr7:25990662-25991006	T-47D	breast:	n/a	n/a
10	MAFF	chr7:25990654-25991027	HepG2	liver:	n/a	chr7:25990898-25990916
11	NFYB	chr7:25990571-25991005	K562	blood:	n/a	chr7:25990817-25990827 chr7:25990814-25990829 chr7:25990814-25990829 chr7:25990815-25990829
12	HCFC1	chr7:25990603-25991327	K562	blood:	n/a	n/a
13	ETS1	chr7:25990585-25990863	K562	blood:	n/a	chr7:25990621-25990634 chr7:25990829-25990840
14	TBL1XR1	chr7:25990634-25990978	GM12878	blood:	n/a	n/a
15	REST	chr7:25990383-25991013	HL-60	blood:	n/a	chr7:25990724-25990737 chr7:25990870-25990883
16	MAX	chr7:25990136-25991357	HepG2	liver:	n/a	chr7:25990932-25990943 chr7:25991249-25991259
17	POLR2A	chr7:25990545-25991348	HEK293	kidney:	n/a	n/a
18	MAX	chr7:25989822-25991418	H1-hESC	embryonic stem cell:	n/a	chr7:25990932-25990943 chr7:25991249-25991259
19	YY1	chr7:25990525-25990979	GM12878	blood:	n/a	chr7:25990683-25990697 chr7:25990671-25990685
20	FOXA1	chr7:25990630-25991002	T-47D	breast:	n/a	n/a
21	CHD2	chr7:25990274-25991363	GM12878	blood:	n/a	chr7:25990731-25990741 chr7:25990920-25990930 chr7:25990411-25990421
22	CTCF	chr7:25990649-25991006	K562	blood:	n/a	chr7:25990659-25990672 chr7:25990671-25990684
23	MAX	chr7:25990528-25991540	MCF-7	breast:	n/a	chr7:25990932-25990943 chr7:25991249-25991259
24	HEY1	chr7:25990589-25990950	K562	blood:	n/a	n/a
25	POLR2A	chr7:25990549-25990818	HepG2	liver:	n/a	n/a
26	POLR2A	chr7:25990555-25990985	HCT-116	colon:	n/a	n/a
27	TCF12	chr7:25990587-25991450	ECC-1	luminal epithelium:	n/a	n/a
28	FOXP2	chr7:25990536-25991281	PFSK-1	brain:	n/a	n/a
29	POLR2A	chr7:25987021-25992694	HepG2	liver:	n/a	n/a
30	NR2F2	chr7:25990654-25991038	K562	blood:	n/a	chr7:25990835-25990850
31	POLR2A	chr7:25986974-25991365	HepG2	liver:	n/a	n/a
32	CREB1	chr7:25989239-25991492	HepG2	liver:	n/a	n/a
33	YY1	chr7:25990640-25990877	HCT-116	colon:	n/a	chr7:25990683-25990697 chr7:25990671-25990685
34	CREB1	chr7:25990632-25991015	H1-hESC	embryonic stem cell:	n/a	n/a
35	POLR2A	chr7:25989708-25991441	HL-60	blood:	n/a	n/a
36	E2F4	chr7:25990619-25991076	K562	blood:	n/a	chr7:25990861-25990876 chr7:25990831-25990840
37	UBTF	chr7:25990641-25990849	K562	blood:	n/a	n/a
38	POLR2A	chr7:25990625-25990937	GM12878	blood:	n/a	n/a
39	NR2C2	chr7:25990635-25991036	GM12878	blood:	n/a	chr7:25990835-25990850 chr7:25990837-25990850
40	YY1	chr7:25990488-25990981	H1-hESC	embryonic stem cell:	n/a	chr7:25990683-25990697 chr7:25990671-25990685
41	POLR2A	chr7:25990573-25991458	GM12891	blood:	n/a	n/a
42	TEAD4	chr7:25990573-25991032	ECC-1	luminal epithelium:	n/a	n/a
43	POLR2A	chr7:25990602-25990853	H1-hESC	embryonic stem cell:	n/a	n/a
44	CREB1	chr7:25990575-25991022	K562	blood:	n/a	n/a
45	CEBPD	chr7:25990637-25991360	HepG2	liver:	n/a	n/a
46	POLR2A	chr7:25989404-25990965	K562	blood:	n/a	n/a
47	USF1	chr7:25990637-25991139	K562	blood:	n/a	chr7:25990931-25990944 chr7:25990933-25990942 chr7:25990933-25990942 chr7:25990932-25990941
48	IRF1	chr7:25990652-25990947	K562	blood:	n/a	chr7:25990818-25990827
49	YY1	chr7:25990546-25990954	HepG2	liver:	n/a	chr7:25990683-25990697 chr7:25990671-25990685
50	MXI1	chr7:25990585-25991346	HepG2	liver:	n/a	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	chr7:25990219..25991822-chr7:25999068..26002038,2	K562	blood:
8	chr7:25989265..25991851-chr7:26238825..26240746,4	MCF-7	breast:
9	chr7:25901871..25903514-chr7:25989852..25991943,2	K562	blood:
10	chr7:25989811..25992726-chr7:26096097..26097704,2	MCF-7	breast:
11	chr7:25901385..25904121-chr7:25989908..25991928,2	MCF-7	breast:
12	chr7:25990548..25994647-chr7:26001939..26005377,4	MCF-7	breast:
13	chr7:25952760..25954350-chr7:25989892..25992459,2	K562	blood:
14	chr7:25990246..25992488-chr7:26100564..26102799,3	MCF-7	breast:

Variant related genes	Relation type
MIR148A	TF binding region
ENSG00000270933	TF binding region
ENSG00000122566	Chromatin interaction
ENSG00000122565	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:124 , 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	chr7:25989600-25990800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
19	chr7:25989600-25990800	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
20	chr7:25989600-25991000	Active TSS	Right Atrium	heart
21	chr7:25989600-25991200	Active TSS	GM12878-XiMat	blood
22	chr7:25989600-25991400	Active TSS	H1 Cell Line	embryonic stem cell
23	chr7:25989600-25991400	Active TSS	HUES6 Cell Line	embryonic stem cell
24	chr7:25989600-25991400	Active TSS	Esophagus	oesophagus
25	chr7:25989600-25991400	Active TSS	Sigmoid Colon	Sigmoid Colon
26	chr7:25989600-25991400	Bivalent/Poised TSS	NH-A	brain
27	chr7:25989600-25991600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr7:25989600-25991600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
29	chr7:25989600-25991800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr7:25989600-25991800	Active TSS	Ovary	ovary
31	chr7:25989600-25992000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
32	chr7:25989600-25992000	Active TSS	Breast Myoepithelial Primary Cells	Breast
33	chr7:25989800-25990800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
34	chr7:25989800-25991200	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr7:25989800-25991200	Bivalent/Poised TSS	HSMMtube	muscle
36	chr7:25989800-25991400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr7:25989800-25991400	Active TSS	Aorta	Aorta
38	chr7:25989800-25991400	Active TSS	Psoas Muscle	Psoas
39	chr7:25989800-25991400	Active TSS	Small Intestine	intestine
40	chr7:25989800-25991600	Active TSS	Stomach Mucosa	stomach
41	chr7:25989800-25991600	Active TSS	Thymus	Thymus
42	chr7:25990000-25990800	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr7:25990000-25991200	Active TSS	Liver	Liver
44	chr7:25990000-25991200	Active TSS	Lung	lung
45	chr7:25990000-25991200	Active TSS	Right Ventricle	heart
46	chr7:25990000-25991200	Active TSS	Stomach Smooth Muscle	stomach
47	chr7:25990000-25991200	Active TSS	K562	blood
48	chr7:25990000-25991200	Active TSS	NHEK	skin
49	chr7:25990000-25991400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr7:25990000-25991400	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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