Variant report

Variant	rs11169637
Chromosome Location	chr12:51361608-51361609
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:51358502..51360086-chr12:51361508..51364420,2	K562	blood:

Extended variants
information (count: 130 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:127)

rs_ID	r²[population]
rs1005559	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1048230	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10506298	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10506299	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11169626	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11169633	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11169636	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11169639	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11169641	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11169642	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11169644	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11169646	0.85[ASN][1000 genomes]
rs11169647	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11169648	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11169649	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11169652	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11169654	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11169655	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11169661	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11169667	1.00[CEU][hapmap];0.86[CHB][hapmap];0.89[JPT][hapmap];1.00[YRI][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11169669	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11169670	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11169671	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11169672	0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11169682	0.87[CEU][hapmap];0.83[EUR][1000 genomes]
rs11519977	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11831810	0.84[CEU][hapmap];0.82[EUR][1000 genomes]
rs11831946	0.85[CEU][hapmap];0.82[EUR][1000 genomes]
rs11833022	0.87[CEU][hapmap];0.94[GIH][hapmap];0.97[TSI][hapmap];0.82[EUR][1000 genomes]
rs12366476	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12366756	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12369278	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12369639	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12369658	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12369666	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12370820	0.83[EUR][1000 genomes]
rs12371463	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12372173	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12809563	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12810174	0.81[EUR][1000 genomes]
rs12810596	0.81[EUR][1000 genomes]
rs12810659	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12811508	0.81[CEU][hapmap]
rs12811658	0.81[EUR][1000 genomes]
rs12811684	0.81[CEU][hapmap];0.94[GIH][hapmap];0.97[TSI][hapmap];0.81[EUR][1000 genomes]
rs12811777	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12812650	0.82[EUR][1000 genomes]
rs12812727	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12813309	0.81[EUR][1000 genomes]
rs12813368	0.81[EUR][1000 genomes]
rs12813728	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12817386	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12818033	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12819296	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12820966	0.81[EUR][1000 genomes]
rs12821444	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12822509	0.82[EUR][1000 genomes]
rs12824225	0.82[EUR][1000 genomes]
rs12824840	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12824958	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.97[TSI][hapmap];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12826153	0.94[GIH][hapmap];0.88[TSI][hapmap]
rs12827861	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12828349	0.82[EUR][1000 genomes]
rs12828536	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12830048	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12830073	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12830422	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12831269	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12831597	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs15897	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17125137	0.89[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];0.87[YRI][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17296192	0.81[CEU][hapmap]
rs224565	0.87[ASN][1000 genomes]
rs224589	1.00[CHB][hapmap];0.87[CHD][hapmap];0.90[JPT][hapmap];0.85[ASN][1000 genomes]
rs224591	0.85[ASN][1000 genomes]
rs2285228	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2285230	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2301529	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2516742	0.83[ASN][1000 genomes]
rs2630364	0.86[ASN][1000 genomes]
rs319932	0.87[ASN][1000 genomes]
rs34514224	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34735738	0.82[EUR][1000 genomes]
rs35037088	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35262273	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35379220	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35656976	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35999440	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs407135	0.85[ASN][1000 genomes]
rs422637	0.83[ASN][1000 genomes]
rs422982	1.00[CHB][hapmap];0.90[JPT][hapmap];0.85[ASN][1000 genomes]
rs440595	0.81[ASN][1000 genomes]
rs4444142	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4471501	1.00[CHB][hapmap];0.87[CHD][hapmap];0.90[JPT][hapmap];0.82[ASN][1000 genomes]
rs454520	0.85[ASN][1000 genomes]
rs4768964	0.80[EUR][1000 genomes]
rs4768967	0.80[CEU][hapmap];0.94[GIH][hapmap];0.97[TSI][hapmap];0.80[EUR][1000 genomes]
rs6580784	0.81[CEU][hapmap];0.94[GIH][hapmap];0.97[TSI][hapmap];0.81[EUR][1000 genomes]
rs6580792	0.81[CEU][hapmap];0.94[GIH][hapmap];0.88[TSI][hapmap]
rs6580793	0.81[CEU][hapmap]
rs67025973	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67133203	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs67259551	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs67260912	0.81[EUR][1000 genomes]
rs706801	0.90[ASN][1000 genomes]
rs706802	0.90[ASN][1000 genomes]
rs7135059	0.83[EUR][1000 genomes]
rs71445768	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71445772	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7305638	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7306293	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73090655	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7954140	0.81[CEU][hapmap];0.94[GIH][hapmap];0.97[TSI][hapmap];0.80[EUR][1000 genomes]
rs7959075	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7959082	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7964570	0.81[EUR][1000 genomes]
rs7965566	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7972406	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7975147	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7976777	0.81[EUR][1000 genomes]
rs7977104	0.88[GIH][hapmap]
rs7978723	0.87[CEU][hapmap];0.91[GIH][hapmap];0.80[EUR][1000 genomes]
rs7980874	0.83[EUR][1000 genomes]
rs829022	0.90[ASN][1000 genomes]
rs853235	0.82[JPT][hapmap]
rs970098	0.81[EUR][1000 genomes]
rs970099	0.81[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	esv3414501	chr12:51174503-51534707	Strong transcription Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	esv34039	chr12:51326702-51671911	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
3	nsv1053466	chr12:51350285-51375969	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS	Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs11169637	LASS5	cis	parietal	SCAN
rs11169637	DDN	cis	cerebellum	SCAN
rs11169637	TFCP2	cis	cerebellum	SCAN
rs11169637	SCN8A	cis	cerebellum	SCAN
rs11169637	CSRNP2	cis	cerebellum	SCAN
rs11169637	KRT79	cis	cerebellum	SCAN

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:51323000-51377200	Weak transcription	Aorta	Aorta
2	chr12:51328800-51378000	Weak transcription	Brain Substantia Nigra	brain
3	chr12:51329600-51373600	Weak transcription	Left Ventricle	heart
4	chr12:51331400-51378400	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr12:51331600-51373800	Weak transcription	Pancreas	Pancrea
6	chr12:51331800-51382000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr12:51331800-51382000	Weak transcription	Ovary	ovary
8	chr12:51332600-51365000	Weak transcription	Fetal Brain Female	brain
9	chr12:51340000-51361800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr12:51341600-51378200	Weak transcription	Right Ventricle	heart
11	chr12:51341800-51372600	Weak transcription	Osteobl	bone
12	chr12:51341800-51383200	Weak transcription	Fetal Brain Male	brain
13	chr12:51342400-51373200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr12:51342800-51378400	Weak transcription	NHLF	lung
15	chr12:51343000-51366200	Weak transcription	Brain Germinal Matrix	brain
16	chr12:51343600-51366200	Weak transcription	Gastric	stomach
17	chr12:51344000-51382000	Weak transcription	Esophagus	oesophagus
18	chr12:51344600-51381600	Weak transcription	Spleen	Spleen
19	chr12:51347200-51362000	Weak transcription	Fetal Muscle Leg	muscle
20	chr12:51347200-51378000	Weak transcription	Brain Angular Gyrus	brain
21	chr12:51347400-51378000	Weak transcription	Brain Anterior Caudate	brain
22	chr12:51349200-51363600	Weak transcription	Primary hematopoietic stem cells	blood
23	chr12:51350800-51380600	Weak transcription	Fetal Lung	lung
24	chr12:51351200-51365200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr12:51354200-51361800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr12:51354200-51363000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr12:51354200-51365200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr12:51354400-51365200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr12:51354400-51365200	Weak transcription	Dnd41	blood
30	chr12:51354400-51383800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
31	chr12:51354600-51364200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr12:51355200-51365200	Weak transcription	HSMM	muscle
33	chr12:51355600-51378000	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr12:51355800-51362000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr12:51355800-51366200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr12:51355800-51378000	Weak transcription	A549	lung
37	chr12:51356000-51365200	Weak transcription	Skeletal Muscle Male	skeletal muscle
38	chr12:51356000-51372600	Weak transcription	Skeletal Muscle Female	skeletal muscle
39	chr12:51356200-51362000	Weak transcription	HSMMtube	muscle
40	chr12:51357600-51378000	Weak transcription	Psoas Muscle	Psoas
41	chr12:51357800-51362400	Weak transcription	Fetal Intestine Large	intestine
42	chr12:51358200-51366200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr12:51358400-51365200	Weak transcription	Brain Cingulate Gyrus	brain
44	chr12:51358800-51364400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr12:51358800-51377800	Weak transcription	Cortex derived primary cultured neurospheres	brain
46	chr12:51359600-51365200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
47	chr12:51359800-51380400	Weak transcription	Fetal Kidney	kidney
48	chr12:51360000-51362400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr12:51360000-51364200	Strong transcription	Primary T cells from cord blood	blood
50	chr12:51360000-51366400	Strong transcription	Fetal Thymus	thymus

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