Variant report

Variant	rs4838650
Chromosome Location	chr10:49994270-49994271
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10776644	0.94[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];0.92[YRI][hapmap];0.91[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs10776646	0.86[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs10857640	0.96[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs10857642	0.83[ASN][1000 genomes]
rs10857643	0.83[ASN][1000 genomes]
rs10857644	0.94[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];0.89[MKK][hapmap];0.92[YRI][hapmap]
rs10857646	0.86[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs10857647	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs11101467	0.83[JPT][hapmap]
rs11101468	0.85[JPT][hapmap]
rs11101486	0.86[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs11101491	0.83[ASN][1000 genomes]
rs11101492	0.83[ASN][1000 genomes]
rs11101493	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs11101494	0.83[ASN][1000 genomes]
rs11101495	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs11101500	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs11101501	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs11101504	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs11101506	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs11101508	1.00[CHB][hapmap];0.91[CHD][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs11101509	1.00[CHB][hapmap];0.87[CHD][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs12217548	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12217755	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12220888	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12250158	0.98[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs17011183	0.85[JPT][hapmap]
rs1871602	0.86[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs41282005	0.83[ASN][1000 genomes]
rs41282013	0.80[ASN][1000 genomes]
rs61075731	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv895371	chr10:49492075-50232180	Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	35 gene(s)	inside rSNPs	diseases
2	nsv831865	chr10:49994254-50164239	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4838650	ZNF488	cis	cerebellum	SCAN
rs4838650	OGDHL	cis	cerebellum	SCAN

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:49967600-50000000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
2	chr10:49967800-50006800	Strong transcription	Primary B cells from peripheral blood	blood
3	chr10:49981400-50007200	Strong transcription	Primary B cells from cord blood	blood
4	chr10:49982400-50000800	Weak transcription	Fetal Thymus	thymus
5	chr10:49982600-50006800	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr10:49985600-49999800	Weak transcription	Duodenum Mucosa	Duodenum
7	chr10:49988800-49997600	Weak transcription	Spleen	Spleen
8	chr10:49990600-49999000	Weak transcription	Lung	lung
9	chr10:49991000-49994600	Weak transcription	Primary monocytes fromperipheralblood	blood
10	chr10:49991000-49996600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr10:49992000-49995200	Weak transcription	Fetal Lung	lung
12	chr10:49992200-49994600	Weak transcription	Primary neutrophils fromperipheralblood	blood
13	chr10:49992400-49994600	Weak transcription	Monocytes-CD14+_RO01746	blood
14	chr10:49992600-49999800	Weak transcription	Small Intestine	intestine
15	chr10:49992800-50005200	Strong transcription	Primary hematopoietic stem cells	blood
16	chr10:49993400-50002200	Strong transcription	GM12878-XiMat	blood
17	chr10:49993600-50001000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr10:49993800-50005600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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