Variant report

Variant	rs73698975
Chromosome Location	chr7:56031133-56031134
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	POLR2A	chr7:56031130-56031322	HepG2	liver:	n/a	n/a
2	CTCF	chr7:56030970-56033262	SK-N-SH	brain:	n/a	chr7:56032120-56032133 chr7:56032414-56032427
3	POLR2A	chr7:56030993-56033296	MCF10A-Er-Src	breast:	n/a	n/a
4	SMC3	chr7:56030976-56033304	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:56018437..56023114-chr7:56029023..56035214,11	K562	blood:
2	chr7:56017138..56022365-chr7:56030961..56033857,7	MCF-7	breast:
3	chr7:56029925..56033959-chr7:56116899..56121286,8	MCF-7	breast:
4	chr7:56031002..56032516-chr7:56130202..56131906,2	K562	blood:
5	chr7:56017145..56021503-chr7:56030472..56033942,8	MCF-7	breast:

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

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs11489729	1.00[ASN][1000 genomes]
rs17172505	0.92[ASN][1000 genomes]
rs56231305	0.82[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs57580348	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs60007968	1.00[ASN][1000 genomes]
rs61193865	1.00[ASN][1000 genomes]
rs73358448	0.85[ASN][1000 genomes]
rs73358466	1.00[ASN][1000 genomes]
rs73358468	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73360334	0.85[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73360352	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73360362	1.00[ASN][1000 genomes]
rs73360364	1.00[ASN][1000 genomes]
rs73360369	1.00[ASN][1000 genomes]
rs73360377	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73698917	1.00[ASN][1000 genomes]
rs73698918	1.00[ASN][1000 genomes]
rs73698919	1.00[ASN][1000 genomes]
rs73698972	1.00[ASN][1000 genomes]
rs73698976	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 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

No data

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:56020200-56031200	Weak transcription	Brain Substantia Nigra	brain
2	chr7:56020200-56031400	Weak transcription	Small Intestine	intestine
3	chr7:56020200-56031600	Weak transcription	Aorta	Aorta
4	chr7:56020200-56031800	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr7:56020400-56031200	Weak transcription	Primary neutrophils fromperipheralblood	blood
6	chr7:56020400-56031200	Weak transcription	NHDF-Ad	bronchial
7	chr7:56020400-56031400	Weak transcription	Brain Angular Gyrus	brain
8	chr7:56020400-56031400	Weak transcription	Colonic Mucosa	Colon
9	chr7:56020400-56031400	Weak transcription	Colon Smooth Muscle	Colon
10	chr7:56020400-56031400	Weak transcription	Esophagus	oesophagus
11	chr7:56020400-56031400	Weak transcription	Fetal Kidney	kidney
12	chr7:56020400-56031600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr7:56020400-56031600	Weak transcription	Psoas Muscle	Psoas
14	chr7:56020400-56031600	Weak transcription	HUVEC	blood vessel
15	chr7:56020400-56031800	Weak transcription	HSMMtube	muscle
16	chr7:56020400-56032600	Weak transcription	Fetal Lung	lung
17	chr7:56020600-56031400	Weak transcription	Primary B cells from cord blood	blood
18	chr7:56020600-56031600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr7:56020600-56031800	Weak transcription	Primary hematopoietic stem cells	blood
20	chr7:56021000-56031400	Weak transcription	Fetal Heart	heart
21	chr7:56021200-56031200	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr7:56021200-56031400	Weak transcription	Fetal Brain Male	brain
23	chr7:56021800-56031400	Weak transcription	Pancreas	Pancrea
24	chr7:56021800-56031600	Weak transcription	NHLF	lung
25	chr7:56022000-56031400	Weak transcription	Placenta	Placenta
26	chr7:56022000-56031600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr7:56022000-56031600	Weak transcription	Fetal Thymus	thymus
28	chr7:56022000-56031600	Weak transcription	Osteobl	bone
29	chr7:56022200-56031400	Weak transcription	Rectal Smooth Muscle	rectum
30	chr7:56022200-56031600	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr7:56022200-56031600	Weak transcription	Left Ventricle	heart
32	chr7:56022200-56031800	Weak transcription	Brain Germinal Matrix	brain
33	chr7:56022600-56031400	Weak transcription	Brain Hippocampus Middle	brain
34	chr7:56022600-56031400	Weak transcription	GM12878-XiMat	blood
35	chr7:56022800-56031200	Weak transcription	Spleen	Spleen
36	chr7:56022800-56031400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr7:56022800-56031400	Weak transcription	Brain Inferior Temporal Lobe	brain
38	chr7:56022800-56031600	Weak transcription	Gastric	stomach
39	chr7:56022800-56031600	Weak transcription	Ovary	ovary
40	chr7:56023000-56031200	Weak transcription	Skeletal Muscle Male	skeletal muscle
41	chr7:56023000-56031200	Weak transcription	Hela-S3	cervix
42	chr7:56023000-56031400	Weak transcription	Primary monocytes fromperipheralblood	blood
43	chr7:56023000-56031600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr7:56023000-56031600	Weak transcription	Brain Cingulate Gyrus	brain
45	chr7:56023200-56031200	Weak transcription	Primary T helper cells fromperipheralblood	blood
46	chr7:56023200-56031200	Weak transcription	Duodenum Mucosa	Duodenum
47	chr7:56023200-56031200	Weak transcription	Duodenum Smooth Muscle	Duodenum
48	chr7:56023200-56031400	Weak transcription	Right Ventricle	heart
49	chr7:56023200-56031600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr7:56023200-56031600	Weak transcription	HSMM	muscle

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