Variant report

Variant	rs10465518
Chromosome Location	chr1:171936851-171936852
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs12059659	1.00[EUR][1000 genomes]
rs13353039	1.00[EUR][1000 genomes]
rs16843652	1.00[EUR][1000 genomes]
rs16843714	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16843740	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16843770	1.00[EUR][1000 genomes]
rs16843814	1.00[EUR][1000 genomes]
rs16843874	1.00[EUR][1000 genomes]
rs16843882	1.00[AMR][1000 genomes]
rs56813784	1.00[EUR][1000 genomes]
rs56888227	1.00[EUR][1000 genomes]
rs58009573	1.00[EUR][1000 genomes]
rs58346902	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59671783	1.00[EUR][1000 genomes]
rs60165186	1.00[EUR][1000 genomes]
rs60893096	1.00[EUR][1000 genomes]
rs61510803	1.00[EUR][1000 genomes]
rs7539162	1.00[EUR][1000 genomes]
rs7541042	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3512995	chr1:171329123-171994470	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	esv3512997	chr1:171329123-171994470	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
3	nsv831893	chr1:171802450-171985000	Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv532342	chr1:171922237-172133785	Weak transcription Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	62 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:171935000-171938600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr1:171935000-171938800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr1:171935000-171939000	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr1:171935000-171939400	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr1:171935200-171937200	Enhancers	Brain Hippocampus Middle	brain
6	chr1:171935200-171937200	Enhancers	Brain Substantia Nigra	brain
7	chr1:171935200-171938000	Enhancers	H9 Cell Line	embryonic stem cell
8	chr1:171935200-171939000	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr1:171935200-171939200	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr1:171935200-171939200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr1:171936000-171937000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr1:171936000-171937200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr1:171936000-171937400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr1:171936000-171937600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr1:171936000-171938400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr1:171936200-171938400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr1:171936400-171938000	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr1:171936400-171938200	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr1:171936400-171938800	Enhancers	Primary hematopoietic stem cells	blood
20	chr1:171936600-171939000	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr1:171936600-171939000	Enhancers	iPS-20b Cell Line	embryonic stem cell
22	chr1:171936600-171948600	Weak transcription	Brain Cingulate Gyrus	brain
23	chr1:171936800-171937200	Enhancers	Fetal Kidney	kidney
24	chr1:171936800-171937400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr1:171936800-171937800	Enhancers	Thymus	Thymus

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