Variant report

Variant	rs572680210
Chromosome Location	chr7:5458953-5458954
allele	G/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	POLR2A	chr7:5458661-5458979	Gliobla	brain:	n/a	n/a
2	POLR2A	chr7:5458245-5459277	HepG2	liver:	n/a	n/a
3	POLR2A	chr7:5458557-5459248	U87	brain:	n/a	n/a
4	MAZ	chr7:5457576-5459985	IMR90	lung:	n/a	chr7:5459045-5459055 chr7:5459206-5459216
5	BCL3	chr7:5458034-5459081	A549	lung:	n/a	n/a
6	ZKSCAN1	chr7:5458109-5459038	Hela-S3	cervix:	n/a	chr7:5458734-5458747
7	TBP	chr7:5457870-5459053	Hela-S3	cervix:	n/a	n/a
8	HMGN3	chr7:5458174-5459075	K562	blood:	n/a	n/a
9	REST	chr7:5457985-5459093	A549	lung:	n/a	chr7:5458637-5458646 chr7:5458179-5458186
10	MAFK	chr7:5458689-5458960	IMR90	lung:	n/a	n/a
11	POLR2A	chr7:5458134-5458978	Hela-S3	cervix:	n/a	n/a
12	MYBL2	chr7:5458071-5459120	HepG2	liver:	n/a	n/a
13	MAX	chr7:5458112-5459149	A549	lung:	n/a	chr7:5459045-5459055
14	E2F6	chr7:5458144-5459035	H1-hESC	embryonic stem cell:	n/a	chr7:5458631-5458641
15	TAF1	chr7:5457904-5459131	H1-neurons	neurons:	n/a	n/a
16	POLR2A	chr7:5458395-5459190	HepG2	liver:	n/a	n/a
17	MAX	chr7:5458003-5459196	HCT-116	colon:	n/a	chr7:5459045-5459055
18	EP300	chr7:5457950-5458997	A549	lung:	n/a	chr7:5458278-5458288 chr7:5458945-5458958
19	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
20	POLR2A	chr7:5458473-5459083	ECC-1	luminal epithelium:	n/a	n/a
21	POLR2A	chr7:5458103-5459178	MCF-7	breast:	n/a	n/a
22	RCOR1	chr7:5457965-5459010	Hela-S3	cervix:	n/a	n/a
23	MAFK	chr7:5458142-5458972	Hela-S3	cervix:	n/a	n/a
24	ELF1	chr7:5457992-5459351	MCF-7	breast:	n/a	n/a
25	MYC	chr7:5458714-5458955	HUVEC	blood vessel:	n/a	n/a
26	SP1	chr7:5457879-5459050	A549	lung:	n/a	chr7:5458561-5458572 chr7:5458562-5458571
27	SIN3AK20	chr7:5458552-5459007	A549	lung:	n/a	n/a
28	MXI1	chr7:5458121-5459055	Hela-S3	cervix:	n/a	n/a
29	ZNF263	chr7:5457962-5458988	HEK293-T-REx	kidney:	n/a	n/a
30	POLR2A	chr7:5458094-5459081	Hela-S3	cervix:	n/a	n/a
31	MAX	chr7:5458143-5459154	ECC-1	luminal epithelium:	n/a	chr7:5459045-5459055
32	POLR2A	chr7:5457984-5459231	HCT-116	colon:	n/a	n/a
33	TCF12	chr7:5456880-5459163	A549	lung:	n/a	chr7:5457832-5457839
34	POLR2A	chr7:5458710-5459130	MCF10A-Er-Src	breast:	n/a	n/a
35	GATA3	chr7:5457956-5459113	SK-N-SH	brain:	n/a	chr7:5458506-5458514
36	GABPA	chr7:5458262-5459141	H1-hESC	embryonic stem cell:	n/a	chr7:5458941-5458950
37	SIN3AK20	chr7:5458717-5459064	SK-N-SH	brain:	n/a	n/a
38	MAX	chr7:5457956-5459386	HCT-116	colon:	n/a	chr7:5459045-5459055 chr7:5459206-5459216
39	POLR2A	chr7:5458076-5459111	HCT-116	colon:	n/a	n/a
40	JUND	chr7:5458018-5459088	MCF-7	breast:	n/a	chr7:5458872-5458879 chr7:5458823-5458834
41	MAZ	chr7:5458126-5459161	Hela-S3	cervix:	n/a	chr7:5459045-5459055
42	FOXM1	chr7:5457988-5459151	MCF-7	breast:	n/a	n/a
43	NFIC	chr7:5458076-5459169	ECC-1	luminal epithelium:	n/a	n/a
44	CTCF	chr7:5458920-5459070	AG04449	skin:	n/a	n/a
45	KAP1	chr7:5457854-5458979	HEK293	kidney:	n/a	n/a
46	E2F4	chr7:5458725-5458994	MCF10A-Er-Src	breast:	n/a	n/a
47	MYC	chr7:5458224-5459034	MCF10A-Er-Src	breast:	n/a	n/a
48	POLR2A	chr7:5456482-5461032	PANC-1	pancreas:	n/a	n/a
49	POLR2A	chr7:5458322-5459256	Hela-S3	cervix:	n/a	n/a
50	POLR2A	chr7:5458563-5459247	U87	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:5458614..5460773-chr7:5569317..5571189,3	K562	blood:
2	chr7:5458325..5469295-chr7:5567159..5574053,21	MCF-7	breast:
3	chr7:5458325..5461852-chr7:5568883..5572530,6	MCF-7	breast:
4	chr7:5458255..5459132-chr7:5468021..5469070,3	MCF-7	breast:
5	chr7:5405158..5408659-chr7:5455520..5459271,4	MCF-7	breast:
6	chr7:5405741..5406385-chr7:5458033..5458970,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000188365	TF binding region
ENSG00000241269	TF binding region
ENSG00000273084	Chromatin interaction
ENSG00000075624	Chromatin interaction
ENSG00000263900	Chromatin interaction
ENSG00000234432	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:22 , 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
22	esv3428734	chr7:5458676-5468674	Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	29 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	chr7:5457000-5459000	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr7:5457000-5459400	Flanking Active TSS	Stomach Smooth Muscle	stomach
3	chr7:5457000-5461400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr7:5457200-5459200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
5	chr7:5457200-5459400	Flanking Active TSS	Primary hematopoietic stem cells	blood
6	chr7:5457200-5461000	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood
7	chr7:5457400-5459400	Flanking Active TSS	A549	lung
8	chr7:5457600-5461000	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr7:5457800-5459000	Flanking Active TSS	Rectal Smooth Muscle	rectum
10	chr7:5457800-5459200	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
11	chr7:5457800-5459200	Flanking Active TSS	Brain Anterior Caudate	brain
12	chr7:5457800-5459200	Flanking Active TSS	Duodenum Mucosa	Duodenum
13	chr7:5457800-5459600	Flanking Active TSS	Hela-S3	cervix
14	chr7:5457800-5459800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
15	chr7:5457800-5461400	Transcr. at gene 5' and 3'	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr7:5458000-5459000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
17	chr7:5458000-5459000	Flanking Active TSS	Brain Cingulate Gyrus	brain
18	chr7:5458000-5459000	Flanking Active TSS	Ovary	ovary
19	chr7:5458000-5459000	Flanking Active TSS	HSMM	muscle
20	chr7:5458000-5459000	Flanking Active TSS	K562	blood
21	chr7:5458000-5459200	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
22	chr7:5458000-5459200	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
23	chr7:5458000-5459200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr7:5458000-5459200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr7:5458000-5459200	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
26	chr7:5458000-5459200	Flanking Active TSS	Colonic Mucosa	Colon
27	chr7:5458000-5459200	Transcr. at gene 5' and 3'	Fetal Intestine Small	intestine
28	chr7:5458000-5459200	Flanking Active TSS	Pancreas	Pancrea
29	chr7:5458000-5459200	Flanking Active TSS	HUVEC	blood vessel
30	chr7:5458000-5459200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
31	chr7:5458000-5459200	Flanking Active TSS	NHEK	skin
32	chr7:5458000-5459200	Flanking Active TSS	Osteobl	bone
33	chr7:5458000-5459400	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
34	chr7:5458000-5459400	Flanking Active TSS	Brain Hippocampus Middle	brain
35	chr7:5458000-5459400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
36	chr7:5458000-5459400	Flanking Active TSS	NH-A	brain
37	chr7:5458000-5460200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
38	chr7:5458000-5460200	Bivalent Enhancer	Primary T helper naive cells from peripheral blood	blood
39	chr7:5458000-5460400	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
40	chr7:5458000-5461000	Flanking Active TSS	Adipose Nuclei	Adipose
41	chr7:5458000-5461200	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
42	chr7:5458000-5461600	Transcr. at gene 5' and 3'	Fetal Stomach	stomach
43	chr7:5458200-5459000	Transcr. at gene 5' and 3'	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr7:5458200-5459000	Flanking Active TSS	Fetal Intestine Large	intestine
45	chr7:5458200-5459000	Flanking Active TSS	HepG2	liver
46	chr7:5458200-5459200	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
47	chr7:5458200-5459200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr7:5458200-5459200	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
49	chr7:5458200-5459200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
50	chr7:5458200-5459200	Flanking Active TSS	Spleen	Spleen

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