Variant report

Variant	rs58971480
Chromosome Location	chr10:28397735-28397736
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:28397069..28398753-chr10:28400190..28402343,2	K562	blood:

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

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

rs_ID	r²[population]
rs10508730	1.00[AFR][1000 genomes]
rs12412297	0.96[AFR][1000 genomes]
rs17831032	1.00[AFR][1000 genomes]
rs41366146	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57575764	1.00[AFR][1000 genomes]
rs60202642	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60533406	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61171639	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73606038	1.00[AMR][1000 genomes]
rs73606052	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73606054	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73606058	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73606059	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73606060	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73606061	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73606062	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73606063	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73606064	1.00[AFR][1000 genomes]
rs73606066	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73606067	1.00[AFR][1000 genomes];1.00[AMR][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	nsv917149	chr10:28018919-28688694	Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv831815	chr10:28235661-28407533	Strong transcription Enhancers Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
3	nsv1042524	chr10:28290149-28506812	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
4	nsv831816	chr10:28304698-28493635	Enhancers Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
5	nsv894988	chr10:28337570-28410989	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS	Chromatin interactive region lncRNA miRNA target site	1 gene(s)	inside rSNPs	diseases
6	nsv525448	chr10:28337570-28563732	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
7	nsv466855	chr10:28341783-28400835	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS	Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
8	nsv550284	chr10:28341783-28400835	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Active TSS	Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
9	nsv831817	chr10:28369836-28539930	Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
10	esv1817535	chr10:28373644-28409054	Weak transcription Strong transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
11	esv1848511	chr10:28373644-28464753	Enhancers Genic enhancers Strong transcription Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
12	esv1851923	chr10:28384098-28410989	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
13	nsv894989	chr10:28384098-28449974	Weak transcription Strong transcription ZNF genes & repeats Enhancers Active TSS Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
14	nsv949151	chr10:28386125-28455221	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:28347000-28412200	Weak transcription	Left Ventricle	heart
2	chr10:28347000-28414600	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr10:28364800-28416600	Weak transcription	Pancreas	Pancrea
4	chr10:28367800-28420200	Weak transcription	Rectal Smooth Muscle	rectum
5	chr10:28376000-28438400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
6	chr10:28376600-28416600	Weak transcription	Fetal Intestine Large	intestine
7	chr10:28378000-28418400	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr10:28378600-28400800	Weak transcription	HSMM	muscle
9	chr10:28378600-28407400	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr10:28378600-28412800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr10:28378600-28425600	Weak transcription	Colon Smooth Muscle	Colon
12	chr10:28378800-28407400	Weak transcription	Primary T helper cells PMA-I stimulated	--
13	chr10:28378800-28408400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr10:28379000-28407000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr10:28379200-28406600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
16	chr10:28379200-28416600	Weak transcription	Fetal Intestine Small	intestine
17	chr10:28379800-28407800	Weak transcription	Primary T helper cells fromperipheralblood	blood
18	chr10:28380000-28398400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr10:28389600-28416400	Weak transcription	Primary hematopoietic stem cells	blood
20	chr10:28392200-28417000	Weak transcription	Esophagus	oesophagus
21	chr10:28392400-28416800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr10:28392600-28401600	Weak transcription	Primary T cells from cord blood	blood
23	chr10:28393800-28400600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr10:28394800-28398000	Strong transcription	Primary neutrophils fromperipheralblood	blood
25	chr10:28394800-28402000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr10:28395600-28399000	Strong transcription	Primary monocytes fromperipheralblood	blood
27	chr10:28396200-28414400	Weak transcription	Adipose Nuclei	Adipose
28	chr10:28396400-28422400	Weak transcription	Rectal Mucosa Donor 29	rectum
29	chr10:28396600-28407400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
30	chr10:28396800-28402200	Weak transcription	Stomach Smooth Muscle	stomach
31	chr10:28396800-28407400	Weak transcription	Primary T cells fromperipheralblood	blood
32	chr10:28396800-28416600	Weak transcription	Aorta	Aorta
33	chr10:28397400-28401800	Weak transcription	Monocytes-CD14+_RO01746	blood

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