Variant report

Variant	rs564414268
Chromosome Location	chr7:5459294-5459295
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	ELF1	chr7:5457992-5459351	MCF-7	breast:	n/a	n/a
3	MAX	chr7:5457956-5459386	HCT-116	colon:	n/a	chr7:5459045-5459055 chr7:5459206-5459216
4	POLR2A	chr7:5456482-5461032	PANC-1	pancreas:	n/a	n/a
5	ZBTB7A	chr7:5459280-5459476	HepG2	liver:	n/a	n/a
6	SIN3AK20	chr7:5456970-5470393	MCF-7	breast:	n/a	n/a
7	SUZ12	chr7:5458124-5462830	NT2-D1	testis:	n/a	n/a
8	POLR2A	chr7:5457865-5470354	H1-neurons	neurons:	n/a	n/a
9	POLR2A	chr7:5456793-5460181	PANC-1	pancreas:	n/a	n/a
10	SIN3AK20	chr7:5459282-5459859	SK-N-SH	brain:	n/a	n/a
11	SMARCB1	chr7:5458106-5459310	Hela-S3	cervix:	n/a	n/a
12	CTBP2	chr7:5458026-5461203	H1-hESC	embryonic stem cell:	n/a	n/a
13	RCOR1	chr7:5457532-5459297	IMR90	lung:	n/a	n/a
14	CEBPD	chr7:5459266-5459590	HepG2	liver:	n/a	n/a
15	MAZ	chr7:5459280-5459300	GM12878	blood:	n/a	n/a
16	TCF7L2	chr7:5458086-5459670	HCT-116	colon:	n/a	n/a
17	POLR2A	chr7:5457111-5459427	K562	blood:	n/a	n/a
18	SIN3AK20	chr7:5457864-5465095	PANC-1	pancreas:	n/a	n/a
19	MAZ	chr7:5459234-5459561	HepG2	liver:	n/a	n/a
20	MXI1	chr7:5457620-5459453	IMR90	lung:	n/a	n/a
21	ZBTB7A	chr7:5458841-5459468	ECC-1	luminal epithelium:	n/a	chr7:5458960-5458967 chr7:5459039-5459047 chr7:5459040-5459048
22	CHD2	chr7:5459238-5459487	HepG2	liver:	n/a	n/a
23	POLR2A	chr7:5458479-5459317	ProgFib	skin:	n/a	n/a
24	REST	chr7:5458129-5460881	H1-neurons	neurons:	n/a	chr7:5458637-5458646 chr7:5458179-5458186
25	POLR2A	chr7:5458667-5459892	HUVEC	blood vessel:	n/a	n/a
26	POLR2A	chr7:5456915-5462882	H1-neurons	neurons:	n/a	n/a
27	ZBTB7A	chr7:5459070-5459581	K562	blood:	n/a	n/a
28	REST	chr7:5457061-5472012	H1-neurons	neurons:	n/a	chr7:5468294-5468307 chr7:5467627-5467637 chr7:5468232-5468245 chr7:5471416-5471429 chr7:5467731-5467744 chr7:5469242-5469252 chr7:5458637-5458646 chr7:5462028-5462041 chr7:5468512-5468525 chr7:5463999-5464012 chr7:5466422-5466432 chr7:5467728-5467741 chr7:5465411-5465424 chr7:5466243-5466256 chr7:5469137-5469144 chr7:5458179-5458186 chr7:5463246-5463256 chr7:5457330-5457348 chr7:5462916-5462929 chr7:5467188-5467198 chr7:5461092-5461105 chr7:5469591-5469611 chr7:5467040-5467053 chr7:5463487-5463500
29	HDAC2	chr7:5459076-5459409	HepG2	liver:	n/a	n/a
30	YY1	chr7:5459203-5459644	HepG2	liver:	n/a	n/a
31	MAX	chr7:5457944-5459339	A549	lung:	n/a	chr7:5459045-5459055 chr7:5459206-5459216

No.	Distal block	Cell Line	Cell type
1	chr7:5458614..5460773-chr7:5569317..5571189,3	K562	blood:
2	chr7:5458987..5464555-chr7:5593156..5597256,5	K562	blood:
3	chr7:5458325..5469295-chr7:5567159..5574053,21	MCF-7	breast:
4	chr7:5458325..5461852-chr7:5568883..5572530,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000188365	TF binding region
ENSG00000241269	TF binding region
ENSG00000075624	Chromatin interaction
ENSG00000263900	Chromatin interaction
ENSG00000272719	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:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:5457000-5459400	Flanking Active TSS	Stomach Smooth Muscle	stomach
2	chr7:5457000-5461400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr7:5457200-5459400	Flanking Active TSS	Primary hematopoietic stem cells	blood
4	chr7:5457200-5461000	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood
5	chr7:5457400-5459400	Flanking Active TSS	A549	lung
6	chr7:5457600-5461000	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr7:5457800-5459600	Flanking Active TSS	Hela-S3	cervix
8	chr7:5457800-5459800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
9	chr7:5457800-5461400	Transcr. at gene 5' and 3'	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr7:5458000-5459400	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
11	chr7:5458000-5459400	Flanking Active TSS	Brain Hippocampus Middle	brain
12	chr7:5458000-5459400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
13	chr7:5458000-5459400	Flanking Active TSS	NH-A	brain
14	chr7:5458000-5460200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
15	chr7:5458000-5460200	Bivalent Enhancer	Primary T helper naive cells from peripheral blood	blood
16	chr7:5458000-5460400	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
17	chr7:5458000-5461000	Flanking Active TSS	Adipose Nuclei	Adipose
18	chr7:5458000-5461200	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
19	chr7:5458000-5461600	Transcr. at gene 5' and 3'	Fetal Stomach	stomach
20	chr7:5458200-5459400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
21	chr7:5458200-5460800	Bivalent Enhancer	Primary T killer memory cells from peripheral blood	blood
22	chr7:5458200-5460800	Transcr. at gene 5' and 3'	Fetal Lung	lung
23	chr7:5458400-5459400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr7:5458400-5459600	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr7:5458400-5459600	Bivalent Enhancer	Primary B cells from peripheral blood	blood
26	chr7:5458400-5459800	Active TSS	Brain Germinal Matrix	brain
27	chr7:5458400-5459800	Flanking Active TSS	HMEC	breast
28	chr7:5458400-5460400	Bivalent/Poised TSS	Thymus	Thymus
29	chr7:5458400-5461000	Transcr. at gene 5' and 3'	NHLF	lung
30	chr7:5458400-5462800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
31	chr7:5458400-5462800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
32	chr7:5458400-5469800	Active TSS	Pancreatic Islets	Pancreatic Islet
33	chr7:5458600-5459400	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr7:5458600-5459400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr7:5458600-5459400	Flanking Bivalent TSS/Enh	Primary mononuclear cells fromperipheralblood	Blood
36	chr7:5458600-5459400	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
37	chr7:5458600-5459400	Flanking Active TSS	Placenta	Placenta
38	chr7:5458600-5459600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr7:5458600-5459800	Flanking Active TSS	Fetal Muscle Trunk	muscle
40	chr7:5458600-5460200	Active TSS	Fetal Brain Female	brain
41	chr7:5458600-5460600	Flanking Bivalent TSS/Enh	Fetal Thymus	thymus
42	chr7:5458600-5460800	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
43	chr7:5458600-5460800	Flanking Bivalent TSS/Enh	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr7:5458600-5460800	Flanking Bivalent TSS/Enh	Primary Natural Killer cells fromperipheralblood	blood
45	chr7:5458600-5468200	Active TSS	Duodenum Smooth Muscle	Duodenum
46	chr7:5458600-5469400	Active TSS	Aorta	Aorta
47	chr7:5458600-5469400	Active TSS	Psoas Muscle	Psoas
48	chr7:5458600-5469800	Active TSS	Fetal Kidney	kidney
49	chr7:5458800-5459600	Active TSS	Fetal Brain Male	brain
50	chr7:5458800-5459800	Flanking Bivalent TSS/Enh	Primary T helper naive cells fromperipheralblood	blood

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