Variant report

Variant	rs752753
Chromosome Location	chr7:100463822-100463823
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	HCFC1	chr7:100462784-100465378	Hela-S3	cervix:	n/a	n/a
2	CEBPB	chr7:100463666-100463865	Hela-S3	cervix:	n/a	n/a
3	BRCA1	chr7:100463702-100463871	Hela-S3	cervix:	n/a	n/a
4	POLR2A	chr7:100463239-100465982	Hela-S3	cervix:	n/a	n/a
5	MAX	chr7:100462763-100466194	HCT-116	colon:	n/a	chr7:100465338-100465348 chr7:100464740-100464747 chr7:100464920-100464931 chr7:100464921-100464930 chr7:100464916-100464935 chr7:100464730-100464746 chr7:100464666-100464676 chr7:100464919-100464932 chr7:100464739-100464748 chr7:100464921-100464930
6	MAZ	chr7:100463646-100465318	Hela-S3	cervix:	n/a	chr7:100464740-100464747 chr7:100464920-100464931 chr7:100464921-100464930 chr7:100464916-100464935 chr7:100464730-100464746 chr7:100464666-100464676 chr7:100464919-100464932 chr7:100464739-100464748 chr7:100464921-100464930
7	MAX	chr7:100463282-100465113	Hela-S3	cervix:	n/a	chr7:100464740-100464747 chr7:100464920-100464931 chr7:100464921-100464930 chr7:100464916-100464935 chr7:100464730-100464746 chr7:100464666-100464676 chr7:100464919-100464932 chr7:100464739-100464748 chr7:100464921-100464930
8	POLR2A	chr7:100463591-100465407	Hela-S3	cervix:	n/a	n/a
9	NFIC	chr7:100463415-100464075	ECC-1	luminal epithelium:	n/a	n/a
10	POLR2A	chr7:100463414-100464308	HUVEC	blood vessel:	n/a	n/a
11	POLR2A	chr7:100463366-100465099	HCT-116	colon:	n/a	n/a
12	YY1	chr7:100463699-100464056	HCT-116	colon:	n/a	n/a
13	POLR2A	chr7:100463267-100465502	Hela-S3	cervix:	n/a	n/a
14	SMARCB1	chr7:100463207-100466210	Hela-S3	cervix:	n/a	n/a
15	NFIC	chr7:100463575-100464060	SK-N-SH	brain:	n/a	n/a
16	POLR2A	chr7:100463164-100466642	HL-60	blood:	n/a	n/a
17	POLR2A	chr7:100463598-100465376	Hela-S3	cervix:	n/a	n/a
18	TFAP2A	chr7:100463228-100464421	Hela-S3	cervix:	n/a	n/a
19	NFIC	chr7:100463413-100464126	SK-N-SH	brain:	n/a	n/a
20	TCF7L2	chr7:100463233-100464335	HCT-116	colon:	n/a	n/a
21	TFAP2C	chr7:100463185-100465413	Hela-S3	cervix:	n/a	chr7:100463791-100463806
22	MYC	chr7:100462985-100464246	MCF10A-Er-Src	breast:	n/a	n/a
23	MAX	chr7:100463224-100465126	Hela-S3	cervix:	n/a	chr7:100464740-100464747 chr7:100464920-100464931 chr7:100464921-100464930 chr7:100464916-100464935 chr7:100464730-100464746 chr7:100464666-100464676 chr7:100464919-100464932 chr7:100464739-100464748 chr7:100464921-100464930
24	SMC3	chr7:100463257-100463988	Hela-S3	cervix:	n/a	n/a
25	POLR2A	chr7:100463527-100463904	HUVEC	blood vessel:	n/a	n/a
26	POLR2A	chr7:100463524-100465351	U87	brain:	n/a	n/a
27	POLR2A	chr7:100463396-100466627	U87	brain:	n/a	n/a
28	POLR2A	chr7:100463168-100463849	MCF10A-Er-Src	breast:	n/a	n/a
29	POLR2A	chr7:100463509-100464047	HUVEC	blood vessel:	n/a	n/a
30	POLR2A	chr7:100463519-100465439	MCF-7	breast:	n/a	n/a
31	RCOR1	chr7:100463650-100464247	Hela-S3	cervix:	n/a	n/a
32	POLR2A	chr7:100463278-100465412	Hela-S3	cervix:	n/a	n/a
33	POLR2A	chr7:100463165-100466460	HL-60	blood:	n/a	n/a
34	YY1	chr7:100463620-100463884	ECC-1	luminal epithelium:	n/a	n/a
35	POLR2A	chr7:100463765-100463893	Gliobla	brain:	n/a	n/a
36	EBF1	chr7:100463608-100463964	GM12878	blood:	n/a	n/a
37	NFIC	chr7:100463528-100464111	ECC-1	luminal epithelium:	n/a	n/a
38	MXI1	chr7:100463661-100464002	Hela-S3	cervix:	n/a	n/a
39	FOXP2	chr7:100463594-100463981	SK-N-MC	brain:	n/a	n/a
40	POLR2A	chr7:100463202-100465536	HUVEC	blood vessel:	n/a	n/a
41	POLR2A	chr7:100463094-100465438	HCT-116	colon:	n/a	n/a
42	CHD2	chr7:100463701-100464379	Hela-S3	cervix:	n/a	n/a
43	POLR2A	chr7:100463158-100465965	HCT-116	colon:	n/a	n/a
44	MYC	chr7:100463640-100463995	HUVEC	blood vessel:	n/a	n/a
45	POLR2A	chr7:100463520-100464160	HUVEC	blood vessel:	n/a	n/a
46	POLR2A	chr7:100463546-100464162	SK-N-MC	brain:	n/a	n/a
47	POLR2A	chr7:100463186-100466523	SK-N-MC	brain:	n/a	n/a
48	RFX5	chr7:100463686-100464097	Hela-S3	cervix:	n/a	n/a
49	MAX	chr7:100462873-100465500	HCT-116	colon:	n/a	chr7:100465338-100465348 chr7:100464740-100464747 chr7:100464920-100464931 chr7:100464921-100464930 chr7:100464916-100464935 chr7:100464730-100464746 chr7:100464666-100464676 chr7:100464919-100464932 chr7:100464739-100464748 chr7:100464921-100464930
50	YY1	chr7:100463523-100464060	HCT-116	colon:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:100448977..100453392-chr7:100463620..100466806,5	K562	blood:
2	chr7:100292109..100293642-chr7:100462189..100464679,2	MCF-7	breast:
3	chr7:100425445..100427592-chr7:100461568..100464406,2	MCF-7	breast:
4	chr7:100448636..100452358-chr7:100462094..100466806,6	K562	blood:
5	chr7:100302295..100304999-chr7:100460489..100463924,4	MCF-7	breast:
6	chr1:221915737..221916640-chr7:100463746..100464357,2	Hela-S3	cervix:
7	chr7:100423752..100426266-chr7:100463292..100466439,3	MCF-7	breast:
8	chr7:100270953..100272830-chr7:100463570..100466328,2	K562	blood:
9	chr7:100450046..100452057-chr7:100463309..100465619,3	MCF-7	breast:
10	chr7:100208537..100210261-chr7:100463099..100465535,2	MCF-7	breast:
11	chr15:48623677..48624235-chr7:100463612..100464308,2	Hela-S3	cervix:
12	chr3:51422030..51422620-chr7:100463692..100464360,2	Hela-S3	cervix:
13	chr7:100462666..100465346-chr7:100797740..100799401,2	MCF-7	breast:
14	chr7:100416260..100418305-chr7:100463374..100465090,2	MCF-7	breast:
15	chr7:100423698..100426539-chr7:100462773..100464754,2	K562	blood:
16	chr6:27860954..27861749-chr7:100463279..100464205,2	Hela-S3	cervix:
17	chr10:13142191..13143107-chr7:100463793..100464580,2	Hela-S3	cervix:

Variant related genes	Relation type
TRIP6	TF binding region
ENSG00000106330	Chromatin interaction
ENSG00000172336	Chromatin interaction
ENSG00000172354	Chromatin interaction
ENSG00000236305	Chromatin interaction
ENSG00000196331	Chromatin interaction
ENSG00000106367	Chromatin interaction
ENSG00000233224	Chromatin interaction
ENSG00000123240	Chromatin interaction
ENSG00000259488	Chromatin interaction
ENSG00000196411	Chromatin interaction
ENSG00000146828	Chromatin interaction
ENSG00000145050	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs3757867	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4729610	1.00[EUR][1000 genomes]
rs72615164	0.81[AMR][1000 genomes]
rs72615165	0.81[AMR][1000 genomes]

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	esv1829095	chr7:99814675-100494084	Bivalent Enhancer Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	393 gene(s)	inside rSNPs	diseases
2	nsv1020837	chr7:100313122-100508635	Genic enhancers Weak transcription Active TSS Strong transcription Enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
3	esv1832517	chr7:100355490-100749246	Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
4	esv2758125	chr7:100355490-100749246	Genic enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
5	esv2759547	chr7:100355490-100749246	Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
6	nsv464647	chr7:100374087-100497131	Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
7	nsv607965	chr7:100374087-100497131	Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
8	nsv1032673	chr7:100382250-100606794	Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
9	nsv888797	chr7:100386900-100482026	Bivalent/Poised TSS Flanking Active TSS Enhancers Genic enhancers Weak transcription Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
10	nsv888798	chr7:100406144-100472826	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
11	nsv888799	chr7:100406144-100497131	Enhancers Bivalent Enhancer Active TSS Weak transcription Genic enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
12	nsv888801	chr7:100416250-100497131	Active TSS Enhancers Genic enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
13	nsv464648	chr7:100422156-100518458	Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
14	nsv607966	chr7:100422156-100518458	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
15	nsv831073	chr7:100425659-100544888	Bivalent Enhancer Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:100451000-100464200	Weak transcription	Left Ventricle	heart
2	chr7:100451000-100464200	Weak transcription	Small Intestine	intestine
3	chr7:100451000-100464400	Weak transcription	Fetal Kidney	kidney
4	chr7:100451200-100464200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr7:100451400-100464200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr7:100451800-100464200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr7:100452400-100464000	Weak transcription	GM12878-XiMat	blood
8	chr7:100453200-100464200	Strong transcription	Primary neutrophils fromperipheralblood	blood
9	chr7:100454800-100464200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr7:100456400-100464200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr7:100459000-100464400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr7:100459200-100464000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr7:100459200-100464200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr7:100459200-100464200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr7:100459200-100464400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr7:100459400-100464200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr7:100459600-100464200	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr7:100460000-100464000	Enhancers	Cortex derived primary cultured neurospheres	brain
19	chr7:100460400-100464400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr7:100460800-100464000	Weak transcription	Ovary	ovary
21	chr7:100460800-100464600	Weak transcription	Aorta	Aorta
22	chr7:100461400-100464200	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr7:100461600-100464000	Strong transcription	Fetal Intestine Small	intestine
24	chr7:100461600-100464000	Weak transcription	Fetal Thymus	thymus
25	chr7:100461600-100464000	Weak transcription	Dnd41	blood
26	chr7:100461600-100464200	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr7:100461600-100464400	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr7:100461800-100464000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr7:100461800-100464200	Weak transcription	Primary hematopoietic stem cells	blood
30	chr7:100461800-100464200	Weak transcription	Fetal Intestine Large	intestine
31	chr7:100461800-100471400	Weak transcription	HepG2	liver
32	chr7:100462000-100464400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr7:100462600-100464200	Weak transcription	HUES64 Cell Line	embryonic stem cell
34	chr7:100462800-100464200	Enhancers	HUVEC	blood vessel
35	chr7:100462800-100464400	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr7:100462800-100464400	Enhancers	NH-A	brain
37	chr7:100462800-100464400	Enhancers	Osteobl	bone
38	chr7:100462800-100464800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr7:100462800-100464800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr7:100463000-100464000	Enhancers	Muscle Satellite Cultured Cells	--
41	chr7:100463000-100464000	Weak transcription	Liver	Liver
42	chr7:100463000-100464200	Enhancers	Primary T helper naive cells from peripheral blood	blood
43	chr7:100463000-100464200	Enhancers	Stomach Mucosa	stomach
44	chr7:100463000-100464800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr7:100463000-100464800	Flanking Active TSS	HMEC	breast
46	chr7:100463200-100464000	Enhancers	Brain Angular Gyrus	brain
47	chr7:100463200-100464000	Enhancers	Brain Anterior Caudate	brain
48	chr7:100463200-100464000	Enhancers	Brain Inferior Temporal Lobe	brain
49	chr7:100463200-100464000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
50	chr7:100463200-100464000	Enhancers	Brain Substantia Nigra	brain

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