Variant report

Variant	rs58470151
Chromosome Location	chr7:100484298-100484299
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:44)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:44 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr7:100482512-100488569	K562	blood:	n/a	n/a
2	POLR2A	chr7:100480317-100488960	GM12878	blood:	n/a	n/a
3	POLR2A	chr7:100483366-100487362	GM12891	blood:	n/a	n/a
4	POLR2A	chr7:100483847-100484356	HCT-116	colon:	n/a	n/a
5	POLR2A	chr7:100484089-100484353	MCF10A-Er-Src	breast:	n/a	n/a
6	POLR2A	chr7:100484093-100484887	GM12878	blood:	n/a	n/a
7	POLR2A	chr7:100483321-100487299	GM12878	blood:	n/a	n/a
8	POLR2A	chr7:100483100-100488395	MCF-7	breast:	n/a	n/a
9	USF2	chr7:100484040-100484300	Hela-S3	cervix:	n/a	n/a
10	POLR2A	chr7:100483376-100488553	K562	blood:	n/a	n/a
11	POLR2A	chr7:100480382-100488921	K562	blood:	n/a	n/a
12	POLR2A	chr7:100484025-100484456	PANC-1	pancreas:	n/a	n/a
13	POLR2A	chr7:100483382-100487701	GM12892	blood:	n/a	n/a
14	POLR2A	chr7:100481058-100488237	Hela-S3	cervix:	n/a	n/a
15	POLR2A	chr7:100483115-100484333	GM12891	blood:	n/a	n/a
16	POLR2A	chr7:100483381-100489176	H1-hESC	embryonic stem cell:	n/a	n/a
17	POLR2A	chr7:100483511-100488697	PANC-1	pancreas:	n/a	n/a
18	POLR2A	chr7:100483755-100488605	PFSK-1	brain:	n/a	n/a
19	POLR2A	chr7:100482969-100488603	PFSK-1	brain:	n/a	n/a
20	POLR2A	chr7:100484016-100484473	SK-N-SH	brain:	n/a	n/a
21	POLR2A	chr7:100480707-100488395	K562	blood:	n/a	n/a
22	ELF1	chr7:100484292-100485982	GM12878	blood:	n/a	n/a
23	POLR2A	chr7:100483553-100484722	K562	blood:	n/a	n/a
24	POLR2A	chr7:100484282-100486181	A549	lung:	n/a	n/a
25	POLR2A	chr7:100482275-100488325	SK-N-MC	brain:	n/a	n/a
26	POLR2A	chr7:100483635-100487800	GM12892	blood:	n/a	n/a
27	BCL3	chr7:100484102-100484680	A549	lung:	n/a	n/a
28	POLR2A	chr7:100482776-100487720	GM12892	blood:	n/a	n/a
29	POLR2A	chr7:100482414-100488528	HepG2	liver:	n/a	n/a
30	POLR2A	chr7:100483802-100484798	MCF10A-Er-Src	breast:	n/a	n/a
31	POLR2A	chr7:100483941-100484425	GM12878	blood:	n/a	n/a
32	POLR2A	chr7:100482812-100488482	SK-N-SH	brain:	n/a	n/a
33	POLR2A	chr7:100483214-100488865	GM12878	blood:	n/a	n/a
34	POLR2A	chr7:100483655-100484644	U87	brain:	n/a	n/a
35	POLR2A	chr7:100484148-100486175	ECC-1	luminal epithelium:	n/a	n/a
36	POLR2A	chr7:100482998-100488699	K562	blood:	n/a	n/a
37	POLR2A	chr7:100482415-100488355	Hela-S3	cervix:	n/a	n/a
38	POLR2A	chr7:100484092-100484644	U87	brain:	n/a	n/a
39	ZNF263	chr7:100483685-100486719	HEK293-T-REx	kidney:	n/a	chr7:100484483-100484504
40	POLR2A	chr7:100481005-100489061	K562	blood:	n/a	n/a
41	POLR2A	chr7:100483873-100488689	GM12891	blood:	n/a	n/a
42	POLR2A	chr7:100483916-100484491	HepG2	liver:	n/a	n/a
43	POLR2A	chr7:100483830-100488342	K562	blood:	n/a	n/a
44	POLR2A	chr7:100484117-100488563	K562	blood:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:6098362..6099262-chr7:100483835..100484554,2	HCT-116	colon:
2	chr7:100274295..100276245-chr7:100482186..100484644,2	K562	blood:
3	chr7:100421802..100424702-chr7:100482689..100484467,2	MCF-7	breast:
4	chr7:100404894..100407220-chr7:100484174..100486005,2	MCF-7	breast:
5	chr7:100448922..100451627-chr7:100483976..100487908,4	K562	blood:
6	chr7:100302365..100304789-chr7:100482401..100486103,3	K562	blood:
7	chr7:100484134..100489082-chr7:100804986..100809404,8	MCF-7	breast:

No data

Variant related genes	Relation type
SRRT	TF binding region
ENSG00000172336	Chromatin interaction
ENSG00000128564	Chromatin interaction
ENSG00000196411	Chromatin interaction
ENSG00000086232	Chromatin interaction
ENSG00000236305	Chromatin interaction
ENSG00000146828	Chromatin interaction
ENSG00000172354	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs57694744	1.00[AMR][1000 genomes]
rs59409166	1.00[AMR][1000 genomes]
rs60174658	1.00[AMR][1000 genomes]
rs73409046	1.00[AMR][1000 genomes]
rs73409072	1.00[AMR][1000 genomes]
rs73409075	1.00[AMR][1000 genomes]
rs73409100	1.00[AMR][1000 genomes]
rs73411103	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 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	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
10	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
11	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
12	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
13	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:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:100473600-100486600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr7:100473800-100485600	Weak transcription	Right Atrium	heart
3	chr7:100474600-100484400	Strong transcription	Placenta	Placenta
4	chr7:100474600-100484400	Strong transcription	Fetal Thymus	thymus
5	chr7:100474600-100484600	Strong transcription	HUES6 Cell Line	embryonic stem cell
6	chr7:100474600-100484800	Strong transcription	H1 Cell Line	embryonic stem cell
7	chr7:100474600-100485000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
8	chr7:100474600-100485800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
9	chr7:100474600-100486000	Strong transcription	HUES48 Cell Line	embryonic stem cell
10	chr7:100474800-100484400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr7:100474800-100484600	Strong transcription	Rectal Mucosa Donor 31	rectum
12	chr7:100474800-100484800	Strong transcription	A549	lung
13	chr7:100474800-100485000	Strong transcription	Fetal Stomach	stomach
14	chr7:100474800-100485000	Strong transcription	Sigmoid Colon	Sigmoid Colon
15	chr7:100474800-100485600	Strong transcription	HSMM	muscle
16	chr7:100474800-100485800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr7:100474800-100485800	Strong transcription	HUES64 Cell Line	embryonic stem cell
18	chr7:100474800-100486000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr7:100475000-100484800	Strong transcription	Adipose Nuclei	Adipose
20	chr7:100475000-100485800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr7:100475200-100485400	Strong transcription	Fetal Intestine Large	intestine
22	chr7:100475200-100486000	Strong transcription	Ovary	ovary
23	chr7:100475400-100484800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr7:100475400-100484800	Strong transcription	Liver	Liver
25	chr7:100475600-100484600	Strong transcription	Rectal Mucosa Donor 29	rectum
26	chr7:100475600-100484800	Strong transcription	Fetal Lung	lung
27	chr7:100475800-100486000	Strong transcription	NHLF	lung
28	chr7:100475800-100486200	Weak transcription	Fetal Brain Male	brain
29	chr7:100476000-100484400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr7:100476000-100484800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr7:100476000-100484800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr7:100476000-100485200	Strong transcription	Muscle Satellite Cultured Cells	--
33	chr7:100476200-100485000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr7:100476200-100485000	Strong transcription	Thymus	Thymus
35	chr7:100476200-100485200	Strong transcription	NHEK	skin
36	chr7:100476400-100484600	Strong transcription	Hela-S3	cervix
37	chr7:100476400-100485400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr7:100476400-100485800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr7:100476400-100486000	Strong transcription	Osteobl	bone
40	chr7:100476600-100484600	Strong transcription	Duodenum Mucosa	Duodenum
41	chr7:100476600-100485800	Strong transcription	NH-A	brain
42	chr7:100477200-100485800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr7:100477400-100486000	Strong transcription	Aorta	Aorta
44	chr7:100477600-100485800	Strong transcription	H9 Cell Line	embryonic stem cell
45	chr7:100477800-100484600	Weak transcription	Fetal Heart	heart
46	chr7:100477800-100484800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr7:100477800-100484800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
48	chr7:100477800-100485600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr7:100477800-100485800	Strong transcription	Rectal Smooth Muscle	rectum
50	chr7:100478000-100484400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--

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