Variant report

Variant	rs188168147
Chromosome Location	chr7:5458068-5458069
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	MAZ	chr7:5457576-5459985	IMR90	lung:	n/a	chr7:5459045-5459055 chr7:5459206-5459216
2	BCL3	chr7:5458034-5459081	A549	lung:	n/a	n/a
3	EP300	chr7:5458066-5458931	T-47D	breast:	n/a	chr7:5458278-5458288
4	TBP	chr7:5457870-5459053	Hela-S3	cervix:	n/a	n/a
5	REST	chr7:5457985-5459093	A549	lung:	n/a	chr7:5458637-5458646 chr7:5458179-5458186
6	GTF2F1	chr7:5457810-5458950	Hela-S3	cervix:	n/a	n/a
7	TAF1	chr7:5457904-5459131	H1-neurons	neurons:	n/a	n/a
8	MAX	chr7:5458003-5459196	HCT-116	colon:	n/a	chr7:5459045-5459055
9	POLR2A	chr7:5457761-5458191	K562	blood:	n/a	n/a
10	EP300	chr7:5457950-5458997	A549	lung:	n/a	chr7:5458278-5458288 chr7:5458945-5458958
11	GATA3	chr7:5456781-5458965	T-47D	breast:	n/a	chr7:5457594-5457602 chr7:5457443-5457450 chr7:5457436-5457457 chr7:5457443-5457452 chr7:5458506-5458514 chr7:5457589-5457597 chr7:5457823-5457831 chr7:5457632-5457640 chr7:5457442-5457452 chr7:5457614-5457622
12	TCF7L2	chr7:5458003-5458950	HEK293	kidney:	n/a	n/a
13	RCOR1	chr7:5457965-5459010	Hela-S3	cervix:	n/a	n/a
14	TCF12	chr7:5457922-5458864	ECC-1	luminal epithelium:	n/a	n/a
15	ELF1	chr7:5457992-5459351	MCF-7	breast:	n/a	n/a
16	SP1	chr7:5457879-5459050	A549	lung:	n/a	chr7:5458561-5458572 chr7:5458562-5458571
17	ELF1	chr7:5457904-5458757	MCF-7	breast:	n/a	n/a
18	JUND	chr7:5456898-5458673	T-47D	breast:	n/a	chr7:5457454-5457465
19	ZNF263	chr7:5457962-5458988	HEK293-T-REx	kidney:	n/a	n/a
20	FOXA1	chr7:5457943-5458544	HepG2	liver:	n/a	chr7:5458283-5458295
21	POLR2A	chr7:5456980-5458909	K562	blood:	n/a	n/a
22	JUND	chr7:5456864-5458671	T-47D	breast:	n/a	chr7:5457454-5457465
23	POLR2A	chr7:5457984-5459231	HCT-116	colon:	n/a	n/a
24	TCF12	chr7:5456880-5459163	A549	lung:	n/a	chr7:5457832-5457839
25	SIN3AK20	chr7:5457139-5458912	MCF-7	breast:	n/a	n/a
26	GATA3	chr7:5457956-5459113	SK-N-SH	brain:	n/a	chr7:5458506-5458514
27	ELK1	chr7:5458011-5458489	Hela-S3	cervix:	n/a	n/a
28	MAX	chr7:5457956-5459386	HCT-116	colon:	n/a	chr7:5459045-5459055 chr7:5459206-5459216
29	HA-E2F1	chr7:5457969-5458842	MCF-7	breast:	n/a	chr7:5458631-5458641
30	POLR2A	chr7:5457959-5458650	K562	blood:	n/a	n/a
31	JUND	chr7:5458018-5459088	MCF-7	breast:	n/a	chr7:5458872-5458879 chr7:5458823-5458834
32	FOXM1	chr7:5457988-5459151	MCF-7	breast:	n/a	n/a
33	KAP1	chr7:5457854-5458979	HEK293	kidney:	n/a	n/a
34	TFAP2C	chr7:5458067-5458898	Hela-S3	cervix:	n/a	n/a
35	POLR2A	chr7:5456482-5461032	PANC-1	pancreas:	n/a	n/a
36	SIN3AK20	chr7:5456970-5470393	MCF-7	breast:	n/a	n/a
37	FOXA2	chr7:5458015-5458599	A549	lung:	n/a	chr7:5458283-5458295
38	ESR1	chr7:5458026-5458564	T-47D	breast:	n/a	n/a
39	NR2F2	chr7:5457930-5458647	MCF-7	breast:	n/a	n/a
40	SMARCC1	chr7:5457775-5459122	Hela-S3	cervix:	n/a	n/a
41	POLR2A	chr7:5457865-5470354	H1-neurons	neurons:	n/a	n/a
42	POLR2A	chr7:5456793-5460181	PANC-1	pancreas:	n/a	n/a
43	HDAC2	chr7:5457060-5459097	MCF-7	breast:	n/a	chr7:5457300-5457314 chr7:5457442-5457451
44	POLR2A	chr7:5457783-5459024	PFSK-1	brain:	n/a	n/a
45	GATA3	chr7:5456972-5459130	MCF-7	breast:	n/a	chr7:5457594-5457602 chr7:5457443-5457450 chr7:5457436-5457457 chr7:5457443-5457452 chr7:5458506-5458514 chr7:5457589-5457597 chr7:5457823-5457831 chr7:5457632-5457640 chr7:5457442-5457452 chr7:5457614-5457622
46	NR2F2	chr7:5457897-5458945	MCF-7	breast:	n/a	n/a
47	POLR2A	chr7:5457991-5458094	HUVEC	blood vessel:	n/a	n/a
48	GATA3	chr7:5457987-5459079	A549	lung:	n/a	chr7:5458506-5458514
49	TCF12	chr7:5457965-5458965	MCF-7	breast:	n/a	n/a
50	EP300	chr7:5456768-5458993	T-47D	breast:	n/a	chr7:5458278-5458288 chr7:5458945-5458958

No.	Distal block	Cell Line	Cell type
1	chr7:5456513..5458866-chr7:5593273..5595987,2	MCF-7	breast:
2	chr7:5405158..5408659-chr7:5455520..5459271,4	MCF-7	breast:
3	chr7:5405741..5406385-chr7:5458033..5458970,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000241269	TF binding region
ENSG00000188365	TF binding region

Extended variants
information (count: 21 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869165	chr7:4889618-5799719	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	352 gene(s)	inside rSNPs	diseases
2	nsv530979	chr7:5101631-5864814	Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	350 gene(s)	inside rSNPs	diseases
3	nsv530981	chr7:5157150-5920006	Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	348 gene(s)	inside rSNPs	diseases
4	nsv887391	chr7:5224407-5572132	Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	292 gene(s)	inside rSNPs	diseases
5	nsv823996	chr7:5285503-5465988	Flanking Active TSS Genic enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
6	nsv887396	chr7:5305297-5475409	Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
7	esv1814049	chr7:5314993-5675131	Active TSS Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	333 gene(s)	inside rSNPs	diseases
8	esv1820266	chr7:5332088-5665173	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	332 gene(s)	inside rSNPs	diseases
9	nsv533965	chr7:5370746-5548397	Flanking Active TSS Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	52 gene(s)	inside rSNPs	diseases
10	nsv530983	chr7:5370746-6070852	Active TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	368 gene(s)	inside rSNPs	diseases
11	nsv887401	chr7:5393243-5539958	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	52 gene(s)	inside rSNPs	diseases
12	nsv887402	chr7:5394951-5494677	Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
13	nsv887404	chr7:5402606-5667645	Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	331 gene(s)	inside rSNPs	diseases
14	nsv887405	chr7:5409059-5552436	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	52 gene(s)	inside rSNPs	diseases
15	nsv887406	chr7:5414602-5552436	Strong transcription Enhancers ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	52 gene(s)	inside rSNPs	diseases
16	nsv916391	chr7:5417945-5889565	Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Genic enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	336 gene(s)	inside rSNPs	diseases
17	nsv887407	chr7:5432672-5605130	Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	302 gene(s)	inside rSNPs	diseases
18	nsv887408	chr7:5432672-5667645	Enhancers Active TSS Flanking Active TSS Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	331 gene(s)	inside rSNPs	diseases
19	nsv508443	chr7:5447283-5501122	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
20	nsv526194	chr7:5452756-5592436	Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	278 gene(s)	inside rSNPs	diseases
21	nsv823997	chr7:5457916-5463961	Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:5437600-5458400	Weak transcription	Psoas Muscle	Psoas
2	chr7:5448800-5458400	Weak transcription	Gastric	stomach
3	chr7:5453000-5458200	Weak transcription	Lung	lung
4	chr7:5453200-5458600	Weak transcription	Aorta	Aorta
5	chr7:5456400-5458600	Enhancers	Placenta	Placenta
6	chr7:5456800-5458600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr7:5456800-5458800	Enhancers	Fetal Heart	heart
8	chr7:5457000-5458200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr7:5457000-5458400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr7:5457000-5458400	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr7:5457000-5458400	Enhancers	Muscle Satellite Cultured Cells	--
12	chr7:5457000-5458400	Flanking Active TSS	Brain Germinal Matrix	brain
13	chr7:5457000-5458600	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr7:5457000-5458600	Flanking Active TSS	Fetal Brain Female	brain
15	chr7:5457000-5459000	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr7:5457000-5459400	Flanking Active TSS	Stomach Smooth Muscle	stomach
17	chr7:5457000-5461400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr7:5457200-5458200	Genic enhancers	Primary monocytes fromperipheralblood	blood
19	chr7:5457200-5458200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr7:5457200-5458200	Enhancers	Sigmoid Colon	Sigmoid Colon
21	chr7:5457200-5458200	Enhancers	Skeletal Muscle Female	skeletal muscle
22	chr7:5457200-5458400	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
23	chr7:5457200-5458400	Genic enhancers	Fetal Muscle Trunk	muscle
24	chr7:5457200-5458400	Genic enhancers	Fetal Muscle Leg	muscle
25	chr7:5457200-5458400	Enhancers	Left Ventricle	heart
26	chr7:5457200-5458400	Enhancers	HMEC	breast
27	chr7:5457200-5458600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr7:5457200-5458600	Enhancers	Small Intestine	intestine
29	chr7:5457200-5458800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr7:5457200-5458800	Enhancers	Placenta Amnion	Placenta Amnion
31	chr7:5457200-5458800	Flanking Active TSS	NHDF-Ad	bronchial
32	chr7:5457200-5459200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
33	chr7:5457200-5459400	Flanking Active TSS	Primary hematopoietic stem cells	blood
34	chr7:5457200-5461000	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood
35	chr7:5457400-5458200	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
36	chr7:5457400-5458200	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
37	chr7:5457400-5458200	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr7:5457400-5458200	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr7:5457400-5458200	Enhancers	Duodenum Smooth Muscle	Duodenum
40	chr7:5457400-5458400	Genic enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr7:5457400-5458400	Transcr. at gene 5' and 3'	Cortex derived primary cultured neurospheres	brain
42	chr7:5457400-5458400	Enhancers	Right Atrium	heart
43	chr7:5457400-5458600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr7:5457400-5458600	Bivalent Enhancer	Fetal Thymus	thymus
45	chr7:5457400-5458800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr7:5457400-5459400	Flanking Active TSS	A549	lung
47	chr7:5457600-5458200	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr7:5457600-5458200	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
49	chr7:5457600-5458400	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr7:5457600-5458400	Enhancers	Liver	Liver

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