Variant report

Variant	rs140756242
Chromosome Location	chr7:5631732-5631733
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	CTCF	chr7:5631665-5631743	NHEK	skin:	n/a	chr7:5631703-5631712 chr7:5631700-5631718 chr7:5631703-5631716 chr7:5631702-5631723
2	CTCF	chr7:5631660-5631810	HFF-Myc	foreskin:	n/a	chr7:5631703-5631712 chr7:5631700-5631718 chr7:5631703-5631716 chr7:5631702-5631723
3	ZBTB7A	chr7:5631567-5631924	K562	blood:	n/a	n/a
4	CTCF	chr7:5631680-5631830	HBMEC	blood vessel:	n/a	chr7:5631703-5631712 chr7:5631700-5631718 chr7:5631703-5631716 chr7:5631702-5631723
5	RAD21	chr7:5631181-5631845	Hela-S3	cervix:	n/a	chr7:5631701-5631720 chr7:5631702-5631711
6	EGR1	chr7:5631068-5631911	HCT-116	colon:	n/a	chr7:5631438-5631452 chr7:5631512-5631522 chr7:5631513-5631523 chr7:5631423-5631437 chr7:5631691-5631704
7	CHD1	chr7:5631009-5636685	IMR90	lung:	n/a	chr7:5633559-5633569 chr7:5633779-5633789 chr7:5634268-5634278 chr7:5634031-5634041 chr7:5632211-5632221
8	CTCF	chr7:5631620-5631770	AG10803	skin:	n/a	chr7:5631703-5631712 chr7:5631700-5631718 chr7:5631703-5631716 chr7:5631702-5631723
9	CTCF	chr7:5631658-5631973	K562	blood:	n/a	chr7:5631703-5631712 chr7:5631700-5631718 chr7:5631703-5631716 chr7:5631702-5631723
10	SMARCC1	chr7:5631037-5632048	Hela-S3	cervix:	n/a	n/a
11	SMARCB1	chr7:5631057-5636588	Hela-S3	cervix:	n/a	n/a
12	CTCF	chr7:5631660-5631810	K562	blood:	n/a	chr7:5631703-5631712 chr7:5631700-5631718 chr7:5631703-5631716 chr7:5631702-5631723
13	SP1	chr7:5630941-5631979	A549	lung:	n/a	chr7:5631090-5631100 chr7:5631437-5631447 chr7:5631479-5631493
14	GATA3	chr7:5630954-5631775	A549	lung:	n/a	n/a
15	TFAP2C	chr7:5630812-5631796	Hela-S3	cervix:	n/a	n/a
16	CTCF	chr7:5631660-5631810	HMEC	breast:	n/a	chr7:5631703-5631712 chr7:5631700-5631718 chr7:5631703-5631716 chr7:5631702-5631723
17	TCF12	chr7:5631002-5633216	A549	lung:	n/a	chr7:5631342-5631350
18	CHD2	chr7:5631068-5631792	Hela-S3	cervix:	n/a	n/a
19	CTCF	chr7:5631660-5631810	HRPEpiC	eye:	n/a	chr7:5631703-5631712 chr7:5631700-5631718 chr7:5631703-5631716 chr7:5631702-5631723
20	CTCF	chr7:5631680-5631830	WERI-Rb-1	eye:	n/a	chr7:5631703-5631712 chr7:5631700-5631718 chr7:5631703-5631716 chr7:5631702-5631723
21	CTCF	chr7:5631600-5631750	HRPEpiC	eye:	n/a	chr7:5631703-5631712 chr7:5631700-5631718 chr7:5631703-5631716 chr7:5631702-5631723
22	ELF1	chr7:5631025-5633525	GM12878	blood:	n/a	n/a
23	MAZ	chr7:5631281-5631858	GM12878	blood:	n/a	n/a
24	TEAD4	chr7:5630725-5631817	SK-N-SH	brain:	n/a	n/a
25	CTCF	chr7:5631600-5631750	HRE	kidney:	n/a	chr7:5631703-5631712 chr7:5631700-5631718 chr7:5631703-5631716 chr7:5631702-5631723
26	SIN3A	chr7:5631708-5636356	H1-hESC	embryonic stem cell:	n/a	chr7:5634020-5634031 chr7:5634155-5634166 chr7:5631844-5631855 chr7:5636064-5636077 chr7:5634416-5634429
27	MAFK	chr7:5631164-5632657	Hela-S3	cervix:	n/a	chr7:5631755-5631765 chr7:5631407-5631422
28	MXI1	chr7:5630851-5636675	IMR90	lung:	n/a	n/a
29	CTCF	chr7:5631700-5631850	Hela-S3	cervix:	n/a	chr7:5631703-5631712 chr7:5631700-5631718 chr7:5631703-5631716 chr7:5631702-5631723
30	CTCF	chr7:5631680-5631830	MCF-7	breast:	n/a	chr7:5631703-5631712 chr7:5631700-5631718 chr7:5631703-5631716 chr7:5631702-5631723
31	REST	chr7:5631714-5635616	H1-neurons	neurons:	n/a	chr7:5631945-5631959 chr7:5635601-5635614 chr7:5631899-5631919 chr7:5633778-5633791 chr7:5632173-5632182 chr7:5632171-5632184 chr7:5632356-5632369 chr7:5633601-5633614 chr7:5634850-5634863
32	CTCF	chr7:5631620-5631770	HPAF	blood vessel:	n/a	chr7:5631703-5631712 chr7:5631700-5631718 chr7:5631703-5631716 chr7:5631702-5631723
33	NFIC	chr7:5630705-5631782	SK-N-SH	brain:	n/a	chr7:5631041-5631058
34	CTCF	chr7:5631580-5631830	GM12873	blood:	n/a	chr7:5631703-5631712 chr7:5631700-5631718 chr7:5631703-5631716 chr7:5631702-5631723
35	RFX5	chr7:5630939-5632667	Hela-S3	cervix:	n/a	chr7:5631324-5631339 chr7:5631099-5631108 chr7:5631096-5631110
36	CTCF	chr7:5631700-5631850	WI-38	lung:	n/a	chr7:5631703-5631712 chr7:5631700-5631718 chr7:5631703-5631716 chr7:5631702-5631723
37	CTCF	chr7:5631700-5631850	HPF	lung:	n/a	chr7:5631703-5631712 chr7:5631700-5631718 chr7:5631703-5631716 chr7:5631702-5631723
38	CTCF	chr7:5631660-5631810	HEEpiC	esophagus:	n/a	chr7:5631703-5631712 chr7:5631700-5631718 chr7:5631703-5631716 chr7:5631702-5631723
39	PML	chr7:5631678-5633210	GM12878	blood:	n/a	n/a
40	GATA3	chr7:5630334-5631762	SK-N-SH	brain:	n/a	chr7:5630637-5630646
41	CTCF	chr7:5631600-5631750	RPTEC	kidney:	n/a	chr7:5631703-5631712 chr7:5631700-5631718 chr7:5631703-5631716 chr7:5631702-5631723
42	GABPA	chr7:5631631-5632696	K562	blood:	n/a	chr7:5632501-5632515
43	CTCF	chr7:5631660-5631810	SK-N-SH_RA	brain:	n/a	chr7:5631703-5631712 chr7:5631700-5631718 chr7:5631703-5631716 chr7:5631702-5631723
44	CTCF	chr7:5631660-5631810	AG09309	skin:	n/a	chr7:5631703-5631712 chr7:5631700-5631718 chr7:5631703-5631716 chr7:5631702-5631723
45	CTCF	chr7:5631620-5631770	HepG2	liver:	n/a	chr7:5631703-5631712 chr7:5631700-5631718 chr7:5631703-5631716 chr7:5631702-5631723
46	PBX3	chr7:5630745-5632036	SK-N-SH	brain:	n/a	chr7:5631036-5631056
47	CTCF	chr7:5631680-5631830	AoAF	blood vessel:	n/a	chr7:5631703-5631712 chr7:5631700-5631718 chr7:5631703-5631716 chr7:5631702-5631723
48	MAZ	chr7:5630729-5633312	IMR90	lung:	n/a	n/a
49	BACH1	chr7:5631346-5632017	H1-hESC	embryonic stem cell:	n/a	n/a
50	TEAD4	chr7:5630741-5632013	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:5551336..5555391-chr7:5631153..5637818,11	K562	blood:
2	chr7:5568810..5571119-chr7:5631190..5634069,5	MCF-7	breast:
3	chr7:5631406..5634130-chr7:5717559..5720896,4	K562	blood:
4	chr7:5601206..5603452-chr7:5630242..5632933,3	MCF-7	breast:
5	chr7:5630491..5634130-chr7:5717559..5720896,4	K562	blood:
6	chr7:5601103..5603390-chr7:5631508..5633975,3	MCF-7	breast:
7	chr7:5631641..5634228-chr7:6097200..6099216,2	K562	blood:
8	chr7:5534332..5536229-chr7:5631160..5633619,2	MCF-7	breast:
9	chr7:5563317..5574038-chr7:5630450..5643029,58	K562	blood:
10	chr7:5535012..5537544-chr7:5631683..5634179,2	MCF-7	breast:
11	chr7:5533112..5541360-chr7:5629989..5636364,13	K562	blood:

Variant related genes	Relation type
FSCN1	TF binding region
ENSG00000237738	Chromatin interaction
ENSG00000155034	Chromatin interaction
ENSG00000207973	Chromatin interaction
ENSG00000075624	Chromatin interaction
ENSG00000086232	Chromatin interaction
ENSG00000263900	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	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
5	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
6	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
7	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
8	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
9	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
10	nsv830890	chr7:5464933-5705158	Flanking Active TSS Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	322 gene(s)	inside rSNPs	diseases
11	nsv533108	chr7:5488018-6316581	Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	390 gene(s)	inside rSNPs	diseases
12	nsv1025434	chr7:5537571-5705283	Genic enhancers Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	297 gene(s)	inside rSNPs	diseases
13	nsv482449	chr7:5557585-5743673	Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	294 gene(s)	inside rSNPs	diseases
14	nsv1033556	chr7:5565080-6186815	Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	357 gene(s)	inside rSNPs	diseases
15	nsv538710	chr7:5565080-6186815	Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	357 gene(s)	inside rSNPs	diseases
16	nsv887414	chr7:5584934-5667645	Flanking Bivalent TSS/Enh Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
17	nsv887415	chr7:5584934-5675305	Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
18	nsv887416	chr7:5584934-5695259	Genic enhancers Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
19	nsv530467	chr7:5617816-5815082	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
20	nsv1017612	chr7:5629728-5819144	Genic enhancers Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
21	nsv1021989	chr7:5629728-6186815	Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats 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	126 gene(s)	inside rSNPs	diseases
22	esv3411018	chr7:5630951-5633799	Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	37 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:5629400-5632400	Enhancers	Primary hematopoietic stem cells	blood
2	chr7:5629600-5632000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
3	chr7:5629800-5632400	Enhancers	Spleen	Spleen
4	chr7:5630200-5631800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr7:5630400-5633200	Enhancers	Fetal Heart	heart
6	chr7:5630600-5632400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr7:5630800-5631800	Enhancers	Primary hematopoietic stem cells short term culture	blood
8	chr7:5630800-5631800	Enhancers	HUVEC	blood vessel
9	chr7:5630800-5632000	Enhancers	NHDF-Ad	bronchial
10	chr7:5631000-5631800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
11	chr7:5631000-5631800	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
12	chr7:5631000-5631800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr7:5631000-5631800	Enhancers	HSMMtube	muscle
14	chr7:5631000-5631800	Enhancers	NHLF	lung
15	chr7:5631000-5632000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
16	chr7:5631000-5632000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr7:5631000-5632000	Bivalent Enhancer	Fetal Stomach	stomach
18	chr7:5631000-5632000	Enhancers	Left Ventricle	heart
19	chr7:5631000-5632000	Enhancers	Ovary	ovary
20	chr7:5631000-5632200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr7:5631000-5632200	Flanking Active TSS	A549	lung
22	chr7:5631000-5632200	Flanking Active TSS	Hela-S3	cervix
23	chr7:5631000-5632200	Flanking Active TSS	HSMM	muscle
24	chr7:5631000-5632400	Bivalent Enhancer	Primary B cells from peripheral blood	blood
25	chr7:5631000-5632400	Enhancers	Lung	lung
26	chr7:5631200-5631800	Enhancers	Adipose Nuclei	Adipose
27	chr7:5631200-5631800	Enhancers	Brain Anterior Caudate	brain
28	chr7:5631200-5631800	Bivalent Enhancer	NHEK	skin
29	chr7:5631200-5632000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr7:5631200-5632000	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
31	chr7:5631200-5632000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
32	chr7:5631200-5632000	Enhancers	Cortex derived primary cultured neurospheres	brain
33	chr7:5631200-5632000	Enhancers	Aorta	Aorta
34	chr7:5631200-5632000	Enhancers	Brain Germinal Matrix	brain
35	chr7:5631200-5632000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
36	chr7:5631200-5632000	Bivalent Enhancer	Placenta	Placenta
37	chr7:5631200-5632000	Enhancers	Right Atrium	heart
38	chr7:5631200-5632000	Enhancers	Right Ventricle	heart
39	chr7:5631200-5632200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
40	chr7:5631200-5632200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr7:5631200-5632200	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
42	chr7:5631200-5632200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr7:5631200-5632200	Flanking Active TSS	Brain Hippocampus Middle	brain
44	chr7:5631200-5632200	Flanking Active TSS	K562	blood
45	chr7:5631200-5632200	Flanking Active TSS	NH-A	brain
46	chr7:5631200-5632400	Enhancers	Fetal Lung	lung
47	chr7:5631200-5632400	Enhancers	Placenta Amnion	Placenta Amnion
48	chr7:5631200-5632600	Enhancers	Fetal Brain Male	brain
49	chr7:5631200-5633000	Flanking Active TSS	Osteobl	bone
50	chr7:5631200-5633800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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