Variant report

Variant	rs10995567
Chromosome Location	chr10:52840546-52840547
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:52839499..52841510-chr10:52846608..52849576,2	K562	blood:

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10218997	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10995590	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11813092	1.00[CEU][hapmap]
rs12247631	0.95[AMR][1000 genomes]
rs12253781	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes]
rs12264657	1.00[CEU][hapmap];0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12265235	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2339626	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2339670	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes]
rs28438967	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2879545	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7096841	1.00[CEU][hapmap]
rs74133958	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831873	chr10:52710610-52899540	Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv895394	chr10:52793177-52866503	Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv1036645	chr10:52804961-53159076	Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:52834800-52842800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr10:52835600-52842400	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr10:52836200-52841200	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr10:52836200-52842800	Weak transcription	Psoas Muscle	Psoas
5	chr10:52836400-52847400	Weak transcription	Right Ventricle	heart
6	chr10:52836600-52841000	Weak transcription	Fetal Muscle Trunk	muscle
7	chr10:52837200-52843000	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr10:52837200-52849600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr10:52837600-52842800	Weak transcription	NHDF-Ad	bronchial
10	chr10:52838200-52842800	Weak transcription	Left Ventricle	heart
11	chr10:52838800-52840600	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr10:52838800-52840600	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr10:52838800-52840600	Enhancers	Rectal Smooth Muscle	rectum
14	chr10:52838800-52841200	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr10:52838800-52841600	Enhancers	H1 Cell Line	embryonic stem cell
16	chr10:52838800-52841600	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr10:52839000-52840600	Enhancers	Colon Smooth Muscle	Colon
18	chr10:52839000-52841000	Enhancers	HUES64 Cell Line	embryonic stem cell
19	chr10:52839000-52841400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr10:52839000-52844000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
21	chr10:52839200-52840600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr10:52839200-52841800	Enhancers	H9 Cell Line	embryonic stem cell
23	chr10:52839400-52840600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr10:52839400-52840600	Enhancers	Fetal Kidney	kidney
25	chr10:52839400-52841400	Enhancers	Fetal Brain Male	brain
26	chr10:52839600-52843000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr10:52839800-52840600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
28	chr10:52840000-52840600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr10:52840000-52840600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr10:52840000-52840600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
31	chr10:52840000-52840600	Enhancers	Fetal Lung	lung
32	chr10:52840000-52840600	Enhancers	Stomach Smooth Muscle	stomach
33	chr10:52840000-52840600	Genic enhancers	NHLF	lung
34	chr10:52840000-52843200	Enhancers	iPS-18 Cell Line	embryonic stem cell
35	chr10:52840200-52840600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr10:52840200-52840600	Enhancers	iPS-20b Cell Line	embryonic stem cell
37	chr10:52840200-52840600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr10:52840200-52840600	Enhancers	Fetal Muscle Leg	muscle
39	chr10:52840200-52840600	Enhancers	Lung	lung
40	chr10:52840200-52841200	Enhancers	HUES48 Cell Line	embryonic stem cell
41	chr10:52840200-52841600	Genic enhancers	Fetal Stomach	stomach
42	chr10:52840200-52842800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr10:52840400-52841400	Enhancers	Aorta	Aorta
44	chr10:52840400-52842800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr10:52840400-52842800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr10:52840400-52852200	Weak transcription	Cortex derived primary cultured neurospheres	brain

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