Variant report

Variant	rs13226043
Chromosome Location	chr7:100475838-100475839
allele	C/T
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	chr7:100475645-100475981	HepG2	liver:	n/a	n/a
2	POLR2A	chr7:100475726-100475925	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:100285793..100287527-chr7:100473873..100476097,2	K562	blood:

Variant related genes	Relation type
SRRT	TF binding region
ENSG00000146830	Chromatin interaction

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs1054391	0.97[ASN][1000 genomes]
rs10953305	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12666785	0.99[ASN][1000 genomes]
rs12669120	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12672665	0.98[ASN][1000 genomes]
rs12705094	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13241786	0.90[ASN][1000 genomes]
rs15624	0.98[ASN][1000 genomes]
rs3087504	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs314332	0.84[ASN][1000 genomes]
rs314368	0.89[EUR][1000 genomes]
rs314369	0.89[ASN][1000 genomes]
rs314371	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs314372	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs314374	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs314375	0.96[ASN][1000 genomes]
rs314376	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs314377	0.96[ASN][1000 genomes]
rs314378	0.96[ASN][1000 genomes]
rs3847063	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4727469	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4727470	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4729615	0.96[ASN][1000 genomes]
rs4729617	0.98[ASN][1000 genomes]
rs4729620	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6465776	0.97[ASN][1000 genomes]
rs6942607	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6954151	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6976053	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7783457	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7783543	0.96[ASN][1000 genomes]
rs7801015	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7803865	0.85[AMR][1000 genomes];0.92[EUR][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	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	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
11	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
12	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
13	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
14	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	chr7:100473600-100477400	Weak transcription	Aorta	Aorta
2	chr7:100473600-100478000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
3	chr7:100473600-100486600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr7:100473800-100476400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
5	chr7:100473800-100476400	Enhancers	Skeletal Muscle Female	skeletal muscle
6	chr7:100473800-100476600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
7	chr7:100473800-100477400	Weak transcription	Esophagus	oesophagus
8	chr7:100473800-100477800	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
9	chr7:100473800-100479000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr7:100473800-100479200	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr7:100473800-100485600	Weak transcription	Right Atrium	heart
12	chr7:100474000-100476000	Genic enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr7:100474000-100477800	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr7:100474000-100478600	Genic enhancers	Primary T cells fromperipheralblood	blood
15	chr7:100474000-100479000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr7:100474200-100476000	Genic enhancers	Primary B cells from peripheral blood	blood
17	chr7:100474200-100478400	Genic enhancers	Primary T helper naive cells from peripheral blood	blood
18	chr7:100474200-100478400	Weak transcription	Psoas Muscle	Psoas
19	chr7:100474400-100476000	Genic enhancers	Fetal Muscle Leg	muscle
20	chr7:100474400-100476200	Enhancers	Brain Cingulate Gyrus	brain
21	chr7:100474400-100478800	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr7:100474400-100480000	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr7:100474600-100476200	Transcr. at gene 5' and 3'	Breast Myoepithelial Primary Cells	Breast
24	chr7:100474600-100476200	Genic enhancers	NHEK	skin
25	chr7:100474600-100476400	Weak transcription	Primary neutrophils fromperipheralblood	blood
26	chr7:100474600-100476600	Strong transcription	ES-I3 Cell Line	embryonic stem cell
27	chr7:100474600-100477400	Weak transcription	Primary hematopoietic stem cells	blood
28	chr7:100474600-100477400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr7:100474600-100477400	Weak transcription	Pancreas	Pancrea
30	chr7:100474600-100477600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr7:100474600-100478000	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
32	chr7:100474600-100478000	Genic enhancers	Brain Hippocampus Middle	brain
33	chr7:100474600-100478000	Genic enhancers	Skeletal Muscle Male	skeletal muscle
34	chr7:100474600-100478400	Genic enhancers	Primary T helper cells fromperipheralblood	blood
35	chr7:100474600-100478400	Weak transcription	Colonic Mucosa	Colon
36	chr7:100474600-100478600	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
37	chr7:100474600-100480600	Weak transcription	Stomach Mucosa	stomach
38	chr7:100474600-100480800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
39	chr7:100474600-100482800	Strong transcription	Primary monocytes fromperipheralblood	blood
40	chr7:100474600-100484400	Strong transcription	Placenta	Placenta
41	chr7:100474600-100484400	Strong transcription	Fetal Thymus	thymus
42	chr7:100474600-100484600	Strong transcription	HUES6 Cell Line	embryonic stem cell
43	chr7:100474600-100484800	Strong transcription	H1 Cell Line	embryonic stem cell
44	chr7:100474600-100485000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
45	chr7:100474600-100485800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
46	chr7:100474600-100486000	Strong transcription	HUES48 Cell Line	embryonic stem cell
47	chr7:100474800-100476000	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr7:100474800-100476000	Genic enhancers	Muscle Satellite Cultured Cells	--
49	chr7:100474800-100476000	Strong transcription	HUVEC	blood vessel
50	chr7:100474800-100476000	Strong transcription	NH-A	brain

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