Variant report

Variant	rs540814553
Chromosome Location	chr7:97910318-97910319
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	POLR2A	chr7:97910278-97910677	MCF-7	breast:	n/a	n/a
2	CTCF	chr7:97910280-97910430	GM06990	blood:	n/a	chr7:97910294-97910303 chr7:97910291-97910309
3	RCOR1	chr7:97910068-97910961	Hela-S3	cervix:	n/a	n/a
4	SP1	chr7:97910152-97910895	H1-hESC	embryonic stem cell:	n/a	chr7:97910750-97910759 chr7:97910751-97910760 chr7:97910804-97910813 chr7:97910803-97910812 chr7:97910676-97910690 chr7:97910624-97910638 chr7:97910799-97910813 chr7:97910613-97910625 chr7:97910596-97910608 chr7:97910802-97910814 chr7:97910807-97910819 chr7:97910615-97910624 chr7:97910614-97910624 chr7:97910597-97910611 chr7:97910758-97910767 chr7:97910596-97910608 chr7:97910749-97910761 chr7:97910597-97910606 chr7:97910614-97910628 chr7:97910598-97910607 chr7:97910802-97910814 chr7:97910858-97910865 chr7:97910804-97910813 chr7:97910597-97910607 chr7:97910614-97910623 chr7:97910749-97910761 chr7:97910613-97910625 chr7:97910597-97910606 chr7:97910597-97910607
5	POLR2A	chr7:97910290-97910588	Hela-S3	cervix:	n/a	n/a
6	ZEB1	chr7:97910015-97910389	GM12878	blood:	n/a	chr7:97910240-97910249 chr7:97910022-97910029
7	SIN3A	chr7:97910001-97910615	H1-hESC	embryonic stem cell:	n/a	chr7:97910556-97910567
8	RFX5	chr7:97910192-97910863	Hela-S3	cervix:	n/a	n/a
9	SP1	chr7:97910217-97911025	A549	lung:	n/a	chr7:97910938-97910952 chr7:97910750-97910759 chr7:97910751-97910760 chr7:97910804-97910813 chr7:97910803-97910812 chr7:97910676-97910690 chr7:97910624-97910638 chr7:97910799-97910813 chr7:97910613-97910625 chr7:97910596-97910608 chr7:97910802-97910814 chr7:97910807-97910819 chr7:97910615-97910624 chr7:97910614-97910624 chr7:97910597-97910611 chr7:97910942-97910951 chr7:97910758-97910767 chr7:97910596-97910608 chr7:97910749-97910761 chr7:97910597-97910606 chr7:97910614-97910628 chr7:97910598-97910607 chr7:97910802-97910814 chr7:97910858-97910865 chr7:97910804-97910813 chr7:97910597-97910607 chr7:97910614-97910623 chr7:97910749-97910761 chr7:97910613-97910625 chr7:97910597-97910606 chr7:97910597-97910607
10	MYBL2	chr7:97910205-97910694	HepG2	liver:	n/a	n/a
11	BHLHE40	chr7:97910134-97911092	GM12878	blood:	n/a	chr7:97910794-97910810 chr7:97910241-97910257 chr7:97910487-97910503 chr7:97910791-97910807 chr7:97910825-97910841
12	POLR2A	chr7:97910141-97910635	U87	brain:	n/a	n/a
13	STAT5A	chr7:97910179-97910476	GM12878	blood:	n/a	n/a
14	POLR2A	chr7:97910110-97911673	HepG2	liver:	n/a	n/a
15	POLR2A	chr7:97910198-97910602	ECC-1	luminal epithelium:	n/a	n/a
16	TCF12	chr7:97909927-97910880	A549	lung:	n/a	chr7:97910312-97910319 chr7:97910241-97910248
17	POLR2A	chr7:97910189-97910712	PFSK-1	brain:	n/a	n/a
18	POLR2A	chr7:97910194-97910725	SK-N-SH	brain:	n/a	n/a
19	CHD2	chr7:97910151-97910799	H1-hESC	embryonic stem cell:	n/a	n/a
20	POLR2A	chr7:97910008-97910681	ECC-1	luminal epithelium:	n/a	n/a
21	POLR2A	chr7:97910198-97910784	Hela-S3	cervix:	n/a	n/a
22	BRCA1	chr7:97910275-97910414	H1-hESC	embryonic stem cell:	n/a	n/a
23	TBP	chr7:97910220-97910600	GM12878	blood:	n/a	n/a
24	POLR2A	chr7:97910147-97911486	GM12878	blood:	n/a	n/a
25	POLR2A	chr7:97910294-97910674	A549	lung:	n/a	n/a
26	POLR2A	chr7:97910160-97911781	GM19193	blood:	n/a	n/a
27	POLR2A	chr7:97910229-97911168	HCT-116	colon:	n/a	n/a
28	ZNF263	chr7:97910122-97910501	HEK293-T-REx	kidney:	n/a	n/a
29	MXI1	chr7:97910290-97910657	Hela-S3	cervix:	n/a	n/a
30	POLR2A	chr7:97910313-97910592	K562	blood:	n/a	n/a
31	CTCF	chr7:97910300-97910450	GM12872	blood:	n/a	n/a
32	CTCF	chr7:97910220-97910370	Caco-2	colon:	n/a	chr7:97910294-97910303 chr7:97910291-97910309
33	MAX	chr7:97910102-97910849	H1-hESC	embryonic stem cell:	n/a	chr7:97910754-97910764 chr7:97910614-97910624 chr7:97910599-97910609
34	TAF1	chr7:97910221-97910579	H1-hESC	embryonic stem cell:	n/a	n/a
35	POLR2A	chr7:97910239-97910578	U87	brain:	n/a	n/a
36	POLR2A	chr7:97910312-97911139	K562	blood:	n/a	n/a
37	ZNF143	chr7:97910242-97910999	GM12878	blood:	n/a	chr7:97910589-97910607 chr7:97910672-97910690
38	MAX	chr7:97909937-97911150	MCF-7	breast:	n/a	chr7:97910754-97910764 chr7:97910614-97910624 chr7:97910942-97910952 chr7:97910599-97910609
39	POLR2A	chr7:97910185-97910677	HepG2	liver:	n/a	n/a
40	SMC3	chr7:97910198-97910610	Hela-S3	cervix:	n/a	n/a
41	POLR2A	chr7:97910190-97910615	GM12892	blood:	n/a	n/a
42	MAX	chr7:97910275-97910687	H1-hESC	embryonic stem cell:	n/a	chr7:97910614-97910624 chr7:97910599-97910609
43	POLR2A	chr7:97910205-97910581	H1-hESC	embryonic stem cell:	n/a	n/a
44	POLR2A	chr7:97910231-97910702	ProgFib	skin:	n/a	n/a
45	POLR2A	chr7:97910261-97911551	GM18526	blood:	n/a	n/a
46	REST	chr7:97910266-97910563	HepG2	liver:	n/a	n/a
47	HEY1	chr7:97910197-97910724	HepG2	liver:	n/a	chr7:97910483-97910498
48	MAZ	chr7:97910232-97911119	GM12878	blood:	n/a	chr7:97910754-97910764 chr7:97910614-97910624 chr7:97910942-97910952 chr7:97910599-97910609
49	PBX3	chr7:97910147-97911102	SK-N-SH	brain:	n/a	chr7:97910413-97910433
50	HMGN3	chr7:97910318-97910581	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:97880609..97882891-chr7:97909884..97913133,3	MCF-7	breast:
2	chr7:97900433..97904239-chr7:97908509..97910838,3	K562	blood:
3	chr7:97880657..97883457-chr7:97908974..97910800,2	MCF-7	breast:

Variant related genes	Relation type
BRI3	TF binding region
ENSG00000205356	Chromatin interaction
ENSG00000164713	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1031371	chr7:97312452-98070538	Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	esv3500384	chr7:97527787-98015382	Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	36 gene(s)	inside rSNPs	diseases
3	esv3500386	chr7:97527787-98015382	Bivalent Enhancer Flanking Active TSS Strong transcription Enhancers Genic enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	36 gene(s)	inside rSNPs	diseases
4	nsv1017481	chr7:97597641-98041043	Active TSS Weak transcription Flanking Active TSS Genic enhancers Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
5	nsv539031	chr7:97597641-98041043	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
6	nsv1019531	chr7:97653880-98034129	Weak transcription Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
7	nsv539032	chr7:97653880-98034129	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
8	nsv1033029	chr7:97773232-98017992	Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
9	nsv539033	chr7:97773232-98017992	Genic enhancers Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
10	nsv888760	chr7:97816327-97965016	Weak transcription Bivalent/Poised TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Enhancers Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
11	nsv831067	chr7:97860169-98065528	Bivalent Enhancer Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
12	nsv1026477	chr7:97869446-98034129	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
13	esv1802449	chr7:97900191-97929668	Enhancers Active TSS Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
14	esv3344573	chr7:97909166-97912264	Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
15	esv3441380	chr7:97909641-97912189	Flanking Active TSS Bivalent/Poised TSS Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
16	esv3422518	chr7:97910041-97912589	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:97909600-97910400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
2	chr7:97909800-97910400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
3	chr7:97909800-97910400	Flanking Active TSS	Primary B cells from cord blood	blood
4	chr7:97909800-97910400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
5	chr7:97909800-97910400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
6	chr7:97909800-97910400	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr7:97909800-97910400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr7:97909800-97910400	Flanking Active TSS	Brain Hippocampus Middle	brain
9	chr7:97909800-97910400	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
10	chr7:97909800-97910400	Flanking Active TSS	Fetal Intestine Large	intestine
11	chr7:97909800-97910400	Flanking Active TSS	Fetal Intestine Small	intestine
12	chr7:97909800-97910400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
13	chr7:97909800-97910400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
14	chr7:97909800-97910600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
15	chr7:97909800-97910600	Flanking Active TSS	Primary hematopoietic stem cells	blood
16	chr7:97909800-97910600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
17	chr7:97909800-97910600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
18	chr7:97909800-97910600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr7:97909800-97910600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr7:97909800-97910600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr7:97909800-97910600	Flanking Active TSS	Duodenum Mucosa	Duodenum
22	chr7:97909800-97910600	Flanking Active TSS	Placenta	Placenta
23	chr7:97909800-97910600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
24	chr7:97909800-97910600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
25	chr7:97909800-97911400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr7:97909800-97911600	Active TSS	iPS-18 Cell Line	embryonic stem cell
27	chr7:97909800-97911600	Active TSS	Primary T cells from cord blood	blood
28	chr7:97909800-97911800	Active TSS	HUES6 Cell Line	embryonic stem cell
29	chr7:97909800-97911800	Active TSS	HUES64 Cell Line	embryonic stem cell
30	chr7:97909800-97911800	Active TSS	Fetal Brain Female	brain
31	chr7:97909800-97911800	Active TSS	Rectal Smooth Muscle	rectum
32	chr7:97909800-97912000	Active TSS	iPS-20b Cell Line	embryonic stem cell
33	chr7:97909800-97912000	Active TSS	Brain Germinal Matrix	brain
34	chr7:97909800-97912000	Active TSS	Colon Smooth Muscle	Colon
35	chr7:97909800-97914200	Active TSS	Pancreatic Islets	Pancreatic Islet
36	chr7:97910000-97910400	Flanking Active TSS	H1 Cell Line	embryonic stem cell
37	chr7:97910000-97910400	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr7:97910000-97910400	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr7:97910000-97910400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr7:97910000-97910400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr7:97910000-97910400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr7:97910000-97910400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr7:97910000-97910400	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr7:97910000-97910400	Flanking Active TSS	Primary B cells from peripheral blood	blood
45	chr7:97910000-97910400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
46	chr7:97910000-97910400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
47	chr7:97910000-97910400	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
48	chr7:97910000-97910400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr7:97910000-97910400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
50	chr7:97910000-97910400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain

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