Variant report

Variant	rs557764967
Chromosome Location	chr7:56031815-56031816
allele	C/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	chr7:56031746-56033253	GM12878	blood:	n/a	chr7:56032448-56032458 chr7:56033012-56033021
2	HCFC1	chr7:56031785-56033057	K562	blood:	n/a	n/a
3	POLR2A	chr7:56031658-56033114	PBDE	blood:	n/a	n/a
4	MAX	chr7:56031630-56032856	GM12878	blood:	n/a	chr7:56032448-56032458
5	ZKSCAN1	chr7:56031767-56032463	Hela-S3	cervix:	n/a	n/a
6	HA-E2F1	chr7:56031806-56033064	MCF-7	breast:	n/a	chr7:56032135-56032146 chr7:56032117-56032124 chr7:56032462-56032472 chr7:56032117-56032124 chr7:56032117-56032124
7	CTCF	chr7:56031800-56031950	HEEpiC	esophagus:	n/a	n/a
8	MAZ	chr7:56031694-56033237	K562	blood:	n/a	chr7:56032448-56032458 chr7:56033012-56033021
9	BHLHE40	chr7:56031796-56032425	GM12878	blood:	n/a	n/a
10	BHLHE40	chr7:56031790-56032872	K562	blood:	n/a	n/a
11	CTCF	chr7:56031780-56031930	GM12874	blood:	n/a	n/a
12	SMC3	chr7:56031716-56032971	Hela-S3	cervix:	n/a	n/a
13	SMARCB1	chr7:56031675-56032972	Hela-S3	cervix:	n/a	n/a
14	CTBP2	chr7:56031539-56032974	H1-hESC	embryonic stem cell:	n/a	n/a
15	CTCF	chr7:56030970-56033262	SK-N-SH	brain:	n/a	chr7:56032120-56032133 chr7:56032414-56032427
16	MAZ	chr7:56031754-56033102	Hela-S3	cervix:	n/a	chr7:56032448-56032458 chr7:56033012-56033021
17	POLR2A	chr7:56030993-56033296	MCF10A-Er-Src	breast:	n/a	n/a
18	SMC3	chr7:56030976-56033304	SK-N-SH	brain:	n/a	n/a
19	MAX	chr7:56031766-56032436	HCT-116	colon:	n/a	n/a
20	CHD2	chr7:56031689-56033061	GM12878	blood:	n/a	n/a
21	MAX	chr7:56031795-56033023	HepG2	liver:	n/a	chr7:56032448-56032458 chr7:56033012-56033021
22	ESRRA	chr7:56031751-56033445	GM12878	blood:	n/a	chr7:56032582-56032595 chr7:56032580-56032590 chr7:56032578-56032594 chr7:56032580-56032590 chr7:56032578-56032591 chr7:56032578-56032590
23	RAD21	chr7:56031641-56033325	SK-N-SH	brain:	n/a	n/a
24	ELK1	chr7:56031758-56032409	K562	blood:	n/a	n/a
25	ZNF263	chr7:56031700-56032366	HEK293-T-REx	kidney:	n/a	n/a
26	GTF2F1	chr7:56031753-56032178	Hela-S3	cervix:	n/a	n/a
27	WRNIP1	chr7:56031795-56032032	GM12878	blood:	n/a	n/a
28	E2F6	chr7:56031810-56032332	A549	lung:	n/a	chr7:56032117-56032124 chr7:56032117-56032124 chr7:56032117-56032124
29	MAX	chr7:56031738-56033060	A549	lung:	n/a	chr7:56032448-56032458 chr7:56033012-56033021
30	POLR2A	chr7:56031689-56034148	MCF10A-Er-Src	breast:	n/a	n/a
31	POLR2A	chr7:56031537-56033095	HepG2	liver:	n/a	n/a
32	POLR2A	chr7:56031724-56032169	SK-N-MC	brain:	n/a	n/a
33	ZNF143	chr7:56031806-56032474	K562	blood:	n/a	chr7:56032462-56032472
34	ZNF143	chr7:56031776-56032836	GM12878	blood:	n/a	chr7:56032462-56032472
35	CTCF	chr7:56031666-56032570	A549	lung:	n/a	chr7:56032120-56032133 chr7:56032414-56032427
36	MAZ	chr7:56031754-56033350	IMR90	lung:	n/a	chr7:56032448-56032458 chr7:56033012-56033021
37	MXI1	chr7:56031503-56033348	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:56031242..56032808-chr7:56131882..56133699,2	K562	blood:
2	chr7:56018437..56023114-chr7:56029023..56035214,11	K562	blood:
3	chr7:56031349..56032951-chr7:56117963..56119524,2	K562	blood:
4	chr7:56017138..56022365-chr7:56030961..56033857,7	MCF-7	breast:
5	chr7:56029925..56033959-chr7:56116899..56121286,8	MCF-7	breast:
6	chr7:56031349..56034408-chr7:56116793..56119463,3	K562	blood:
7	chr7:56031002..56032516-chr7:56130202..56131906,2	K562	blood:
8	chr7:56017145..56021503-chr7:56030472..56033942,8	MCF-7	breast:
9	chr7:56031249..56033824-chr7:56141998..56144238,2	MCF-7	breast:

Variant related genes	Relation type
GBAS	TF binding region
ENSG00000129103	Chromatin interaction
ENSG00000146731	Chromatin interaction
ENSG00000239789	Chromatin interaction
ENSG00000146729	Chromatin interaction
ENSG00000146733	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2829874	chr7:55382925-56369816	Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
2	nsv995105	chr7:55606107-56174888	Active TSS ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
3	esv12412	chr7:55619800-56385412	Strong transcription Flanking Active TSS Genic enhancers Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
4	nsv949574	chr7:55705566-56544711	Active TSS Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
5	nsv1019400	chr7:55709827-56094540	Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
6	esv3446617	chr7:55745934-56485903	Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
7	nsv529162	chr7:55800753-56174888	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
8	esv2761334	chr7:55823581-56424739	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
9	nsv888064	chr7:55831721-56104539	Genic enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
10	nsv1018806	chr7:55844931-56383936	Active TSS Enhancers Genic enhancers Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
11	nsv538860	chr7:55844931-56383936	Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
12	nsv498114	chr7:55872850-56174888	Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
13	nsv1034826	chr7:55962159-56092835	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
14	nsv1033225	chr7:55962159-56094540	Genic enhancers Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS 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 miRNA target site	27 gene(s)	inside rSNPs	diseases
15	esv3415140	chr7:56031258-56033556	Flanking Active TSS Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:56020400-56032600	Weak transcription	Fetal Lung	lung
2	chr7:56025400-56032200	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr7:56030800-56032200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr7:56031200-56032000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
5	chr7:56031200-56032200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
6	chr7:56031200-56032200	Flanking Active TSS	Dnd41	blood
7	chr7:56031400-56032000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr7:56031400-56032000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
9	chr7:56031400-56032000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
10	chr7:56031400-56032000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
11	chr7:56031400-56032000	Enhancers	Fetal Brain Male	brain
12	chr7:56031400-56032000	Enhancers	Fetal Heart	heart
13	chr7:56031400-56032000	Enhancers	Small Intestine	intestine
14	chr7:56031400-56032000	Flanking Active TSS	GM12878-XiMat	blood
15	chr7:56031400-56032200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
16	chr7:56031400-56033800	Active TSS	Fetal Kidney	kidney
17	chr7:56031600-56032000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr7:56031600-56032000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr7:56031600-56032000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr7:56031600-56032000	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr7:56031600-56032000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
22	chr7:56031600-56032000	Flanking Active TSS	Primary B cells from cord blood	blood
23	chr7:56031600-56032000	Flanking Active TSS	Primary B cells from peripheral blood	blood
24	chr7:56031600-56032000	Flanking Active TSS	Primary T cells from cord blood	blood
25	chr7:56031600-56032000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
26	chr7:56031600-56032000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
27	chr7:56031600-56032000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
28	chr7:56031600-56032000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
29	chr7:56031600-56032000	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
30	chr7:56031600-56032000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr7:56031600-56032000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr7:56031600-56032000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
33	chr7:56031600-56032000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr7:56031600-56032000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr7:56031600-56032000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr7:56031600-56032000	Flanking Active TSS	Adipose Nuclei	Adipose
37	chr7:56031600-56032000	Flanking Active TSS	Brain Angular Gyrus	brain
38	chr7:56031600-56032000	Flanking Active TSS	Brain Cingulate Gyrus	brain
39	chr7:56031600-56032000	Flanking Active TSS	Brain Hippocampus Middle	brain
40	chr7:56031600-56032000	Flanking Active TSS	Colonic Mucosa	Colon
41	chr7:56031600-56032000	Flanking Active TSS	Duodenum Mucosa	Duodenum
42	chr7:56031600-56032000	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
43	chr7:56031600-56032000	Flanking Active TSS	Fetal Brain Female	brain
44	chr7:56031600-56032000	Flanking Active TSS	Rectal Smooth Muscle	rectum
45	chr7:56031600-56032000	Active TSS	Right Atrium	heart
46	chr7:56031600-56032000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
47	chr7:56031600-56032000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
48	chr7:56031600-56032000	Flanking Active TSS	Stomach Smooth Muscle	stomach
49	chr7:56031600-56032000	Flanking Active TSS	Spleen	Spleen
50	chr7:56031600-56032000	Flanking Active TSS	HepG2	liver

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