Variant report

Variant	rs2553022
Chromosome Location	chr7:100401862-100401863
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:22)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:22 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:100401429..100403627-chr7:100416353..100418950,2	MCF-7	breast:
2	chr7:100398509..100403276-chr7:100410135..100416305,9	MCF-7	breast:
3	chr7:100399548..100403000-chr7:100411556..100414718,4	MCF-7	breast:
4	chr7:100396968..100399232-chr7:100399904..100402635,3	K562	blood:
5	chr7:100395173..100397781-chr7:100398399..100402175,4	K562	blood:
6	chr7:100301574..100304294-chr7:100400170..100402239,2	MCF-7	breast:
7	chr7:100399055..100403429-chr7:100463103..100465851,4	MCF-7	breast:
8	chr7:100399943..100402662-chr7:100404200..100406231,2	K562	blood:
9	chr7:100026362..100028252-chr7:100399957..100402614,2	K562	blood:
10	chr7:100395722..100403808-chr7:100446660..100452489,13	K562	blood:
11	chr7:100400738..100403633-chr7:100407631..100410567,3	MCF-7	breast:
12	chr7:100394796..100404152-chr7:100420595..100427156,30	MCF-7	breast:
13	chr7:100398877..100402818-chr7:100471202..100474320,4	MCF-7	breast:
14	chr7:100396860..100402994-chr7:100420596..100426493,12	MCF-7	breast:
15	chr7:100399511..100403808-chr7:100446884..100450905,4	K562	blood:
16	chr7:100395163..100402625-chr7:100430790..100439308,9	K562	blood:
17	chr7:100399561..100402161-chr7:100485352..100488986,3	MCF-7	breast:
18	chr7:100401192..100404144-chr7:100407945..100410039,3	K562	blood:
19	chr7:100398676..100402755-chr7:100422988..100426913,7	K562	blood:
20	chr7:100399758..100401974-chr7:100433436..100436499,4	MCF-7	breast:
21	chr7:100394911..100396702-chr7:100397930..100402175,4	K562	blood:
22	chr7:100400928..100404046-chr7:100404200..100407081,5	K562	blood:

No data

Variant related genes	Relation type
ENSG00000087087	Chromatin interaction
ENSG00000236305	Chromatin interaction
ENSG00000078487	Chromatin interaction
ENSG00000196411	Chromatin interaction
ENSG00000146834	Chromatin interaction
ENSG00000146828	Chromatin interaction
ENSG00000176125	Chromatin interaction
ENSG00000263672	Chromatin interaction
ENSG00000172336	Chromatin interaction
ENSG00000087077	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs12537212	0.82[ASN][1000 genomes]
rs12670773	0.87[ASN][1000 genomes]
rs2247445	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2247447	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2250818	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2553020	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2553021	0.80[EUR][1000 genomes]
rs2571606	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2571607	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2571608	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2571609	0.98[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2720396	0.86[EUR][1000 genomes]
rs3857809	0.83[ASN][1000 genomes]
rs3890144	0.87[ASN][1000 genomes]
rs60224425	0.86[ASN][1000 genomes]
rs60291880	0.84[ASN][1000 genomes]
rs73413159	0.87[ASN][1000 genomes]
rs7785074	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 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	nsv470381	chr7:100240191-100431980	Strong transcription Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	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
4	nsv888796	chr7:100313420-100423365	Genic enhancers Strong transcription Bivalent Enhancer Weak transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
5	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
6	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
7	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
8	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
9	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
10	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
11	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

No data

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:100397600-100402400	Weak transcription	Brain Germinal Matrix	brain
2	chr7:100398800-100403200	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr7:100399000-100402000	Genic enhancers	Fetal Muscle Leg	muscle
4	chr7:100399000-100403400	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr7:100399200-100402000	Enhancers	Fetal Thymus	thymus
6	chr7:100399400-100402000	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr7:100399600-100402000	Genic enhancers	Cortex derived primary cultured neurospheres	brain
8	chr7:100399600-100403000	Genic enhancers	HUVEC	blood vessel
9	chr7:100399600-100403200	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr7:100399600-100422200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr7:100399600-100422200	Strong transcription	iPS-15b Cell Line	embryonic stem cell
12	chr7:100399800-100402000	Genic enhancers	Fetal Muscle Trunk	muscle
13	chr7:100399800-100422400	Strong transcription	H9 Cell Line	embryonic stem cell
14	chr7:100399800-100422400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr7:100400000-100402400	Genic enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr7:100400000-100422200	Strong transcription	HUES64 Cell Line	embryonic stem cell
17	chr7:100400200-100403400	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
18	chr7:100400200-100405600	Weak transcription	Fetal Kidney	kidney
19	chr7:100400400-100422200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
20	chr7:100400600-100402000	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr7:100400600-100402000	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr7:100400600-100402400	Genic enhancers	Fetal Lung	lung
23	chr7:100400600-100404000	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
24	chr7:100400600-100409000	Genic enhancers	Placenta	Placenta
25	chr7:100400800-100405200	Genic enhancers	Spleen	Spleen
26	chr7:100401000-100402200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr7:100401000-100402600	Genic enhancers	Liver	Liver
28	chr7:100401200-100402000	Enhancers	Primary monocytes fromperipheralblood	blood
29	chr7:100401200-100402400	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr7:100401400-100402000	Enhancers	Primary B cells from peripheral blood	blood
31	chr7:100401400-100402800	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr7:100401400-100402800	Enhancers	Colon Smooth Muscle	Colon
33	chr7:100401400-100403200	Genic enhancers	Placenta Amnion	Placenta Amnion
34	chr7:100401600-100402000	Enhancers	Monocytes-CD14+_RO01746	blood
35	chr7:100401600-100402200	Weak transcription	Duodenum Smooth Muscle	Duodenum
36	chr7:100401600-100402200	Weak transcription	Gastric	stomach
37	chr7:100401600-100402200	Enhancers	K562	blood
38	chr7:100401600-100402800	Weak transcription	Fetal Brain Female	brain
39	chr7:100401600-100402800	Genic enhancers	Pancreas	Pancrea
40	chr7:100401600-100404000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
41	chr7:100401600-100406200	Strong transcription	HepG2	liver
42	chr7:100401600-100408200	Weak transcription	Small Intestine	intestine
43	chr7:100401600-100410800	Weak transcription	Osteobl	bone
44	chr7:100401600-100420800	Weak transcription	Brain Angular Gyrus	brain
45	chr7:100401600-100421800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
46	chr7:100401600-100421800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr7:100401600-100422000	Strong transcription	H1 Cell Line	embryonic stem cell
48	chr7:100401600-100422000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr7:100401600-100422600	Strong transcription	HUES48 Cell Line	embryonic stem cell
50	chr7:100401600-100423200	Weak transcription	Brain Anterior Caudate	brain

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