Variant report

Variant	rs535557228
Chromosome Location	chr7:25991245-25991246
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	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	CTCF	chr7:25991120-25991270	SK-N-SH_RA	brain:	n/a	n/a
3	POLR2A	chr7:25991067-25991415	HCT-116	colon:	n/a	n/a
4	POLR2A	chr7:25985526-25991809	GM19099	blood:	n/a	n/a
5	HDAC2	chr7:25990493-25991493	MCF-7	breast:	n/a	chr7:25990768-25990776
6	E2F6	chr7:25990502-25991297	K562	blood:	n/a	chr7:25990861-25990876 chr7:25990831-25990840 chr7:25990577-25990587
7	RFX5	chr7:25991183-25991250	GM12878	blood:	n/a	n/a
8	HCFC1	chr7:25990603-25991327	K562	blood:	n/a	n/a
9	HEY1	chr7:25991024-25991454	HepG2	liver:	n/a	chr7:25991265-25991280
10	TAF1	chr7:25991023-25991252	HepG2	liver:	n/a	n/a
11	MAX	chr7:25990136-25991357	HepG2	liver:	n/a	chr7:25990932-25990943 chr7:25991249-25991259
12	POLR2A	chr7:25990545-25991348	HEK293	kidney:	n/a	n/a
13	MAX	chr7:25989822-25991418	H1-hESC	embryonic stem cell:	n/a	chr7:25990932-25990943 chr7:25991249-25991259
14	CHD2	chr7:25990274-25991363	GM12878	blood:	n/a	chr7:25990731-25990741 chr7:25990920-25990930 chr7:25990411-25990421
15	MAX	chr7:25990528-25991540	MCF-7	breast:	n/a	chr7:25990932-25990943 chr7:25991249-25991259
16	POLR2A	chr7:25991041-25991298	HepG2	liver:	n/a	n/a
17	TCF12	chr7:25990587-25991450	ECC-1	luminal epithelium:	n/a	n/a
18	EGR1	chr7:25990809-25991281	GM12878	blood:	n/a	chr7:25990912-25990926 chr7:25990830-25990840 chr7:25991177-25991187
19	FOXP2	chr7:25990536-25991281	PFSK-1	brain:	n/a	n/a
20	POLR2A	chr7:25987021-25992694	HepG2	liver:	n/a	n/a
21	TAF1	chr7:25991037-25991331	H1-hESC	embryonic stem cell:	n/a	n/a
22	POLR2A	chr7:25986974-25991365	HepG2	liver:	n/a	n/a
23	CREB1	chr7:25989239-25991492	HepG2	liver:	n/a	n/a
24	POLR2A	chr7:25989708-25991441	HL-60	blood:	n/a	n/a
25	MAX	chr7:25990686-25991427	K562	blood:	n/a	chr7:25990932-25990943 chr7:25991249-25991259
26	RCOR1	chr7:25991140-25991786	HepG2	liver:	n/a	n/a
27	GTF2F1	chr7:25990680-25991344	H1-hESC	embryonic stem cell:	n/a	n/a
28	REST	chr7:25991060-25991397	HepG2	liver:	n/a	chr7:25991177-25991190 chr7:25991118-25991131 chr7:25991169-25991178 chr7:25991165-25991175 chr7:25991169-25991182
29	POLR2A	chr7:25990573-25991458	GM12891	blood:	n/a	n/a
30	EP300	chr7:25991145-25991422	GM12878	blood:	n/a	n/a
31	RAD21	chr7:25991130-25991398	H1-hESC	embryonic stem cell:	n/a	n/a
32	PML	chr7:25991050-25991501	MCF-7	breast:	n/a	n/a
33	POLR2A	chr7:25991046-25991389	HepG2	liver:	n/a	n/a
34	CEBPD	chr7:25990637-25991360	HepG2	liver:	n/a	n/a
35	YY1	chr7:25991038-25991361	H1-hESC	embryonic stem cell:	n/a	chr7:25991311-25991320
36	POLR2A	chr7:25991040-25991282	HepG2	liver:	n/a	n/a
37	MAZ	chr7:25990681-25991679	GM12878	blood:	n/a	chr7:25990932-25990943 chr7:25991249-25991259
38	ZEB1	chr7:25991034-25991398	GM12878	blood:	n/a	n/a
39	MXI1	chr7:25990585-25991346	HepG2	liver:	n/a	n/a
40	TCF7L2	chr7:25990575-25991329	HCT-116	colon:	n/a	n/a
41	POLR2A	chr7:25991002-25991276	GM12878	blood:	n/a	n/a
42	POLR2A	chr7:25986274-25991748	GM18526	blood:	n/a	n/a
43	POLR2A	chr7:25990592-25991465	MCF-7	breast:	n/a	n/a
44	ZNF143	chr7:25990617-25991306	GM12878	blood:	n/a	chr7:25990702-25990712 chr7:25990683-25990702 chr7:25990621-25990631
45	TCF12	chr7:25991000-25991267	GM12878	blood:	n/a	n/a
46	EGR1	chr7:25990705-25991271	H1-hESC	embryonic stem cell:	n/a	chr7:25990912-25990926 chr7:25990830-25990840 chr7:25991177-25991187
47	STAT1	chr7:25991199-25991327	GM12878	blood:	n/a	n/a
48	E2F6	chr7:25991017-25991401	H1-hESC	embryonic stem cell:	n/a	n/a
49	POLR2A	chr7:25990218-25991696	MCF-7	breast:	n/a	n/a
50	POLR2A	chr7:25991033-25991768	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:25932775..25935474-chr7:25989853..25992220,2	K562	blood:
2	chr11:128392124..128392882-chr7:25991162..25992153,2	HCT-116	colon:
3	chr7:25932084..25934727-chr7:25991166..25992811,2	MCF-7	breast:
4	chr7:25990509..25992566-chr7:25994471..25996898,2	K562	blood:
5	chr7:25990207..25991830-chr7:26094178..26097069,2	MCF-7	breast:
6	chr7:25965773..25968588-chr7:25989969..25992378,2	MCF-7	breast:
7	chr2:122288195..122288920-chr7:25991049..25991698,2	NB4	blood:
8	chr7:25990038..25992521-chr7:26240210..26242861,2	MCF-7	breast:
9	chr7:25990295..25993400-chr7:26020103..26023231,3	MCF-7	breast:
10	chr7:25990769..25992627-chr7:25993165..25995306,2	MCF-7	breast:
11	chr7:25990709..25992651-chr7:26072086..26075062,2	MCF-7	breast:
12	chr7:25990219..25991822-chr7:25999068..26002038,2	K562	blood:
13	chr1:45204875..45205516-chr7:25991087..25991649,2	HCT-116	colon:
14	chr7:25989265..25991851-chr7:26238825..26240746,4	MCF-7	breast:
15	chr7:25901871..25903514-chr7:25989852..25991943,2	K562	blood:
16	chr7:25989811..25992726-chr7:26096097..26097704,2	MCF-7	breast:
17	chr7:25901385..25904121-chr7:25989908..25991928,2	MCF-7	breast:
18	chr7:25990548..25994647-chr7:26001939..26005377,4	MCF-7	breast:
19	chr7:25952760..25954350-chr7:25989892..25992459,2	K562	blood:
20	chr7:25990246..25992488-chr7:26100564..26102799,3	MCF-7	breast:

Variant related genes	Relation type
MIR148A	TF binding region
ENSG00000270933	TF binding region
ENSG00000122565	Chromatin interaction
ENSG00000142945	Chromatin interaction
ENSG00000122566	Chromatin interaction
ENSG00000134954	Chromatin interaction
ENSG00000264229	Chromatin interaction
ENSG00000074054	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:122 , 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	chr7:25989600-25991400	Active TSS	H1 Cell Line	embryonic stem cell
19	chr7:25989600-25991400	Active TSS	HUES6 Cell Line	embryonic stem cell
20	chr7:25989600-25991400	Active TSS	Esophagus	oesophagus
21	chr7:25989600-25991400	Active TSS	Sigmoid Colon	Sigmoid Colon
22	chr7:25989600-25991400	Bivalent/Poised TSS	NH-A	brain
23	chr7:25989600-25991600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr7:25989600-25991600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
25	chr7:25989600-25991800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr7:25989600-25991800	Active TSS	Ovary	ovary
27	chr7:25989600-25992000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
28	chr7:25989600-25992000	Active TSS	Breast Myoepithelial Primary Cells	Breast
29	chr7:25989800-25991400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr7:25989800-25991400	Active TSS	Aorta	Aorta
31	chr7:25989800-25991400	Active TSS	Psoas Muscle	Psoas
32	chr7:25989800-25991400	Active TSS	Small Intestine	intestine
33	chr7:25989800-25991600	Active TSS	Stomach Mucosa	stomach
34	chr7:25989800-25991600	Active TSS	Thymus	Thymus
35	chr7:25990000-25991400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr7:25990000-25991400	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr7:25990000-25991400	Active TSS	Primary T killer memory cells from peripheral blood	blood
38	chr7:25990000-25991400	Bivalent/Poised TSS	Fetal Stomach	stomach
39	chr7:25990000-25991400	Bivalent/Poised TSS	HSMM	muscle
40	chr7:25990000-25991600	Flanking Active TSS	Primary B cells from cord blood	blood
41	chr7:25990000-25991600	Flanking Active TSS	Primary hematopoietic stem cells	blood
42	chr7:25990000-25991600	Active TSS	Brain Anterior Caudate	brain
43	chr7:25990000-25991600	Active TSS	Fetal Intestine Small	intestine
44	chr7:25990000-25991600	Active TSS	Fetal Lung	lung
45	chr7:25990000-25991800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr7:25990000-25992000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr7:25990200-25991400	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
48	chr7:25990200-25991400	Active TSS	Brain Cingulate Gyrus	brain
49	chr7:25990200-25991400	Active TSS	Duodenum Mucosa	Duodenum
50	chr7:25990200-25991400	Active TSS	Rectal Mucosa Donor 31	rectum

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