Variant report

Variant	rs11250099
Chromosome Location	chr8:10818657-10818658
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	chr8:10813776..10816525-chr8:10817526..10819399,2	K562	blood:

Extended variants
information (count: 42 )
Associated
traits (count: 13 )

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10087923	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs10088408	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10089518	0.89[CEU][hapmap]
rs10096381	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10096421	0.96[CEU][hapmap];0.95[GIH][hapmap];0.89[TSI][hapmap];0.91[EUR][1000 genomes]
rs10096511	0.90[EUR][1000 genomes]
rs10109025	0.87[ASN][1000 genomes]
rs10111950	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11250093	0.81[CEU][hapmap];0.80[TSI][hapmap]
rs11250094	0.83[CEU][hapmap]
rs11250097	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11250098	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12546366	0.81[CEU][hapmap]
rs2001433	0.81[CEU][hapmap]
rs34738102	0.84[EUR][1000 genomes]
rs34959618	0.80[ASN][1000 genomes]
rs35027032	0.82[ASN][1000 genomes]
rs35792458	0.82[ASN][1000 genomes]
rs35910832	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4240673	0.81[CEU][hapmap]
rs4314618	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4451266	0.85[EUR][1000 genomes]
rs4451267	0.86[EUR][1000 genomes]
rs4840542	0.80[CEU][hapmap]
rs4841465	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4841466	0.84[EUR][1000 genomes]
rs6601544	0.85[CEU][hapmap];0.81[GIH][hapmap];0.81[TSI][hapmap];0.86[EUR][1000 genomes]
rs6601560	0.87[CEU][hapmap]
rs6984496	0.81[CEU][hapmap];0.80[TSI][hapmap]
rs6996943	0.84[CEU][hapmap];0.86[EUR][1000 genomes]
rs7001456	0.82[CHB][hapmap]
rs7010262	0.84[EUR][1000 genomes]
rs7010719	0.86[EUR][1000 genomes]
rs7011106	0.84[EUR][1000 genomes]
rs7011268	0.86[EUR][1000 genomes]
rs7013277	1.00[CHB][hapmap];1.00[CHD][hapmap];0.82[JPT][hapmap];0.88[ASN][1000 genomes]
rs7014861	0.84[EUR][1000 genomes]
rs7820860	0.81[CEU][hapmap]
rs7823296	0.80[CEU][hapmap]
rs9657519	0.81[CEU][hapmap]

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	nsv917085	chr8:10237508-10828204	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv521721	chr8:10802102-10836472	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:13)

SNP	Gene	Cis/trans	Tissue	Source
rs11250099	TDH	cis	cerebellum	SCAN
rs11250099	DEFB134	cis	cerebellum	SCAN
rs11250099	BLK	Cis_1M	lymphoblastoid	RTeQTL
rs11250099	FLJ10661	cis	cerebellum	SCAN
rs11250099	PRSS55	cis	cerebellum	SCAN
rs11250099	CLDN23	cis	multi-tissue	Pritchard
rs11250099	DEFB136	cis	parietal	SCAN
rs11250099	C8orf13	Cis_1M	lymphoblastoid	RTeQTL
rs11250099	C8orf13	cis	multi-tissue	Pritchard
rs11250099	DEFB134	cis	parietal	SCAN
rs11250099	CTSB	cis	cerebellum	SCAN
rs11250099	MFHAS1	cis	cerebellum	SCAN
rs11250099	C8orf5	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:10815000-10820800	Enhancers	Fetal Muscle Leg	muscle
2	chr8:10817600-10819400	Enhancers	Fetal Brain Male	brain
3	chr8:10817600-10820000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr8:10817800-10818800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr8:10817800-10819400	Enhancers	Fetal Brain Female	brain
6	chr8:10817800-10819800	Enhancers	Fetal Muscle Trunk	muscle
7	chr8:10817800-10820000	Enhancers	Primary T helper cells fromperipheralblood	blood
8	chr8:10817800-10820000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
9	chr8:10818000-10819000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr8:10818000-10820000	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr8:10818200-10819000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
12	chr8:10818200-10819000	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr8:10818200-10819000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr8:10818200-10819400	Enhancers	Brain Angular Gyrus	brain
15	chr8:10818200-10819600	Enhancers	Brain Inferior Temporal Lobe	brain
16	chr8:10818200-10819800	Enhancers	Brain Germinal Matrix	brain
17	chr8:10818200-10820000	Enhancers	Primary T cells fromperipheralblood	blood
18	chr8:10818200-10820000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
19	chr8:10818200-10820000	Enhancers	Brain Anterior Caudate	brain
20	chr8:10818200-10820200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
21	chr8:10818400-10819000	Enhancers	H1 Cell Line	embryonic stem cell
22	chr8:10818400-10819400	Enhancers	Brain Hippocampus Middle	brain
23	chr8:10818400-10819800	Enhancers	Brain Cingulate Gyrus	brain
24	chr8:10818400-10820000	Enhancers	Breast Myoepithelial Primary Cells	Breast
25	chr8:10818400-10822200	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr8:10818600-10818800	Enhancers	Primary T killer memory cells from peripheral blood	blood
27	chr8:10818600-10819400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
28	chr8:10818600-10820000	Enhancers	Primary T helper cells PMA-I stimulated	--

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