Variant report

Variant	rs964834
Chromosome Location	chr11:18116894-18116895
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAFK	chr11:18116763-18116963	HepG2	liver:	n/a	chr11:18116807-18116824

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:18114312..18117170-chr11:18118246..18120137,2	K562	blood:

Variant related genes	Relation type
SAAL1	TF binding region

Extended variants
information (count: 78 )
Associated
traits (count: 8 )

rSNPs within LD-proxies of this variant (count:77)

rs_ID	r²[population]
rs10444225	0.92[CEU][hapmap];0.85[TSI][hapmap]
rs10500831	0.90[CHB][hapmap];0.83[JPT][hapmap]
rs10741736	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10766453	0.98[EUR][1000 genomes]
rs1079785	0.92[CEU][hapmap];0.85[TSI][hapmap]
rs10832881	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11024462	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11024467	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11024469	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11024470	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11024472	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11024474	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11024475	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11024476	1.00[CHB][hapmap]
rs11024477	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11024478	0.91[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11024480	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11024482	0.90[CHB][hapmap];0.83[JPT][hapmap]
rs11024487	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11024488	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11024489	0.86[ASN][1000 genomes]
rs11024491	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11024492	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12360537	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap];0.95[TSI][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12364327	0.90[CHB][hapmap];0.83[JPT][hapmap]
rs12365158	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12365751	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12417591	0.80[EUR][1000 genomes]
rs1399025	0.96[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.83[GIH][hapmap];0.85[JPT][hapmap];0.90[MEX][hapmap];0.89[TSI][hapmap];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1824018	0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1975777	0.90[CHB][hapmap]
rs1980096	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1980097	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2085275	0.96[CEU][hapmap];0.91[CHB][hapmap];0.85[JPT][hapmap];0.84[EUR][1000 genomes]
rs2124378	0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2271533	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2403246	0.94[EUR][1000 genomes]
rs2468842	0.89[CHB][hapmap];0.81[JPT][hapmap]
rs3741199	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];0.89[MEX][hapmap];0.96[MKK][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4052539	0.90[CHB][hapmap];0.83[JPT][hapmap]
rs4287320	0.83[EUR][1000 genomes]
rs4537731	0.92[CEU][hapmap]
rs4756930	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4757613	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56001925	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61882526	0.81[AFR][1000 genomes]
rs61882529	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6486403	0.92[CEU][hapmap]
rs6486406	0.81[CHB][hapmap];0.82[CHD][hapmap];0.95[GIH][hapmap];0.90[MEX][hapmap];0.86[ASN][1000 genomes]
rs7102017	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7103885	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7104168	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7104856	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7106970	0.97[EUR][1000 genomes]
rs7113855	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7118250	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7119063	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7122118	0.96[CEU][hapmap]
rs7129345	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7130929	0.92[CEU][hapmap];0.85[TSI][hapmap]
rs7131255	0.90[CHB][hapmap];0.83[JPT][hapmap]
rs7131454	0.81[CHB][hapmap];0.83[JPT][hapmap]
rs7931522	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7933593	0.93[EUR][1000 genomes]
rs7934091	0.90[CHB][hapmap];0.83[JPT][hapmap]
rs7936469	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7936878	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7937368	0.92[CEU][hapmap];0.85[TSI][hapmap]
rs7939791	1.00[CEU][hapmap];0.82[MEX][hapmap];0.93[TSI][hapmap];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7943526	0.96[CEU][hapmap];0.88[TSI][hapmap];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7943725	0.84[JPT][hapmap]
rs7944348	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7950928	0.92[CEU][hapmap];0.85[TSI][hapmap]
rs871699	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs907922	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs964833	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs964835	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949248	chr11:17791822-18692687	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases

mRNA abundance (count:8)

SNP	Gene	Cis/trans	Tissue	Source
rs964834	LOC113174	cis	multi-tissue	Pritchard
rs964834	SAAL1	cis	cerebellum	SCAN
rs964834	LOC494141	cis	parietal	SCAN
rs964834	SAAL1	cis	parietal	SCAN
rs964834	RPS13	cis	parietal	SCAN
rs964834	SAAL1	cis	Artery Tibial	GTEx
rs964834	TPH1	cis	cerebellum	SCAN
rs964834	SAAL1	cis	multi-tissue	Pritchard

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:18096400-18118000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr11:18098200-18124400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr11:18099000-18125800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr11:18099800-18118400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr11:18099800-18124800	Strong transcription	Dnd41	blood
6	chr11:18100200-18126200	Weak transcription	Small Intestine	intestine
7	chr11:18100400-18118600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
8	chr11:18100400-18126000	Strong transcription	HUES48 Cell Line	embryonic stem cell
9	chr11:18100600-18117600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr11:18100600-18118200	Strong transcription	HUES6 Cell Line	embryonic stem cell
11	chr11:18100600-18125600	Strong transcription	HUES64 Cell Line	embryonic stem cell
12	chr11:18100800-18126000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr11:18101000-18122000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr11:18102200-18117800	Strong transcription	HSMM	muscle
15	chr11:18102400-18118400	Strong transcription	Primary T cells fromperipheralblood	blood
16	chr11:18103400-18126200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr11:18104800-18125200	Strong transcription	Primary T cells from cord blood	blood
18	chr11:18104800-18125200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr11:18105000-18118200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
20	chr11:18105000-18118400	Strong transcription	Primary T helper cells fromperipheralblood	blood
21	chr11:18105200-18118200	Strong transcription	Primary T helper cells PMA-I stimulated	--
22	chr11:18105200-18118400	Strong transcription	Primary B cells from peripheral blood	blood
23	chr11:18105200-18118600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
24	chr11:18105400-18119000	Strong transcription	HMEC	breast
25	chr11:18105400-18125800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
26	chr11:18105800-18118600	Strong transcription	Fetal Thymus	thymus
27	chr11:18106000-18117800	Strong transcription	Adipose Nuclei	Adipose
28	chr11:18107200-18126000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
29	chr11:18107400-18118200	Strong transcription	Fetal Muscle Trunk	muscle
30	chr11:18107400-18118400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr11:18107400-18121600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr11:18107400-18125800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr11:18107600-18118200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr11:18107600-18118400	Strong transcription	H1 Cell Line	embryonic stem cell
35	chr11:18107600-18118600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
36	chr11:18107600-18125400	Strong transcription	Fetal Muscle Leg	muscle
37	chr11:18107800-18126200	Weak transcription	NHDF-Ad	bronchial
38	chr11:18108200-18125200	Strong transcription	Primary B cells from cord blood	blood
39	chr11:18108400-18117600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr11:18108600-18117800	Strong transcription	Primary hematopoietic stem cells	blood
41	chr11:18108600-18122800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr11:18109400-18117800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr11:18109400-18118200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr11:18110600-18119200	Strong transcription	Hela-S3	cervix
45	chr11:18110600-18126200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
46	chr11:18111000-18123600	Weak transcription	Aorta	Aorta
47	chr11:18111000-18126600	Weak transcription	Right Ventricle	heart
48	chr11:18111200-18125200	Strong transcription	Monocytes-CD14+_RO01746	blood
49	chr11:18112400-18119000	Strong transcription	Stomach Smooth Muscle	stomach
50	chr11:18112600-18118000	Strong transcription	Rectal Mucosa Donor 29	rectum

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