Variant report

Variant	rs575734
Chromosome Location	chr11:100847749-100847750
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	chr11:100842079..100843901-chr11:100845694..100847786,2	K562	blood:

Extended variants
information (count: 86 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:84)

rs_ID	r²[population]
rs10501968	1.00[CHB][hapmap];0.81[JPT][hapmap]
rs10791431	0.82[EUR][1000 genomes]
rs10791440	0.95[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.89[YRI][hapmap];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11224507	0.81[EUR][1000 genomes]
rs11224509	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11224526	1.00[CHB][hapmap];0.81[JPT][hapmap]
rs11224530	1.00[CHB][hapmap];0.81[JPT][hapmap]
rs1145434	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11534487	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12417366	1.00[CHB][hapmap];0.81[JPT][hapmap]
rs12417367	1.00[CHB][hapmap]
rs12417750	1.00[CHB][hapmap];0.81[JPT][hapmap]
rs12418330	1.00[CHB][hapmap];0.81[JPT][hapmap]
rs12418450	1.00[CHB][hapmap];0.81[JPT][hapmap]
rs12418769	1.00[CHB][hapmap];0.81[JPT][hapmap]
rs12419150	1.00[CHB][hapmap]
rs12419214	1.00[CHB][hapmap]
rs12419257	0.94[CHB][hapmap]
rs12420453	1.00[CHB][hapmap];0.81[JPT][hapmap]
rs12420466	1.00[CHB][hapmap]
rs12420698	1.00[CHB][hapmap];0.81[JPT][hapmap]
rs12421386	1.00[CHB][hapmap];0.81[JPT][hapmap]
rs12422140	1.00[CHB][hapmap]
rs17095808	1.00[CHB][hapmap];0.81[JPT][hapmap]
rs17095820	1.00[CHB][hapmap];0.81[JPT][hapmap]
rs17095829	1.00[CHB][hapmap];0.81[JPT][hapmap]
rs1893683	0.82[EUR][1000 genomes]
rs1940221	0.82[EUR][1000 genomes]
rs1944432	1.00[CHB][hapmap];0.81[JPT][hapmap]
rs1944433	1.00[CHB][hapmap];0.81[JPT][hapmap]
rs1944434	1.00[CHB][hapmap];0.81[JPT][hapmap]
rs2155444	1.00[CHB][hapmap];0.87[JPT][hapmap]
rs2155445	1.00[CHB][hapmap];0.81[JPT][hapmap]
rs2165664	0.82[EUR][1000 genomes]
rs2186784	1.00[CHB][hapmap]
rs2186785	0.88[CHB][hapmap]
rs2186786	0.94[CHB][hapmap]
rs2277275	1.00[CHB][hapmap];0.81[JPT][hapmap]
rs2407823	0.82[EUR][1000 genomes]
rs2407825	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2897779	0.82[EUR][1000 genomes]
rs471933	0.91[MEX][hapmap]
rs473765	1.00[CHB][hapmap];0.81[JPT][hapmap]
rs475432	1.00[CHB][hapmap];0.80[JPT][hapmap]
rs4754708	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4754709	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs479135	1.00[CHB][hapmap]
rs485269	0.94[CEU][hapmap];0.83[CHB][hapmap];0.92[JPT][hapmap];0.82[YRI][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs497234	1.00[CHB][hapmap];0.81[JPT][hapmap]
rs505458	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs507858	0.92[ASW][hapmap];0.95[CEU][hapmap];0.94[CHB][hapmap];0.98[GIH][hapmap];0.81[JPT][hapmap];1.00[MEX][hapmap];0.82[TSI][hapmap];1.00[YRI][hapmap];0.94[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs515868	1.00[CHB][hapmap];0.81[JPT][hapmap]
rs516873	0.94[CEU][hapmap];1.00[CHB][hapmap];0.80[JPT][hapmap];0.88[YRI][hapmap];0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs527433	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs533384	1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs533571	0.91[GIH][hapmap];0.85[TSI][hapmap];0.80[EUR][1000 genomes]
rs535747	1.00[CEU][hapmap];0.87[YRI][hapmap];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs540866	0.92[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.82[TSI][hapmap];1.00[YRI][hapmap];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs543146	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.81[JPT][hapmap];0.82[TSI][hapmap];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs549510	1.00[CHB][hapmap];0.80[JPT][hapmap]
rs551632	0.82[GIH][hapmap]
rs552490	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.81[JPT][hapmap];0.96[MEX][hapmap];0.82[TSI][hapmap];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs555825	1.00[CHB][hapmap];0.81[JPT][hapmap]
rs55745131	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs56320976	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs563460	1.00[CHB][hapmap];0.81[JPT][hapmap]
rs568618	0.88[CEU][hapmap];1.00[CHB][hapmap];0.81[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs569336	0.80[CEU][hapmap];0.81[YRI][hapmap]
rs576472	1.00[CHB][hapmap];0.81[JPT][hapmap]
rs583415	1.00[CHB][hapmap];0.81[JPT][hapmap]
rs590616	0.91[GIH][hapmap];0.85[TSI][hapmap];0.80[EUR][1000 genomes]
rs631172	0.90[CEU][hapmap];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs634968	0.90[CEU][hapmap];1.00[CHB][hapmap];0.81[JPT][hapmap];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs640326	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.81[JPT][hapmap];0.96[MEX][hapmap];0.82[TSI][hapmap];0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs658497	1.00[CEU][hapmap];1.00[CHB][hapmap];0.81[JPT][hapmap];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs659034	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6590829	1.00[CHB][hapmap];0.81[JPT][hapmap]
rs6590831	1.00[CHB][hapmap];0.81[JPT][hapmap]
rs661973	1.00[CHB][hapmap];0.81[JPT][hapmap]
rs668513	1.00[CHB][hapmap];0.81[JPT][hapmap]
rs688146	1.00[CEU][hapmap];1.00[CHB][hapmap];0.81[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7114062	0.94[CHB][hapmap]
rs7130586	1.00[CHB][hapmap];0.81[JPT][hapmap]
rs7933033	1.00[CHB][hapmap];0.81[JPT][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	nsv1048356	chr11:100713096-101058995	Strong transcription Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv541154	chr11:100713096-101058995	Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent/Poised TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs575734	TMEM133	cis	lymphoblastoid	seeQTL

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:100810000-100852200	Weak transcription	Small Intestine	intestine
2	chr11:100810600-100848400	Weak transcription	Rectal Smooth Muscle	rectum
3	chr11:100813000-100848600	Weak transcription	A549	lung
4	chr11:100828800-100849400	Weak transcription	NHLF	lung
5	chr11:100829000-100849400	Weak transcription	HMEC	breast
6	chr11:100829600-100849400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr11:100830600-100858200	Weak transcription	Colonic Mucosa	Colon
8	chr11:100832200-100849600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr11:100834400-100851600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr11:100840400-100849200	Weak transcription	Dnd41	blood
11	chr11:100841400-100850000	Weak transcription	Pancreas	Pancrea
12	chr11:100841600-100852200	Weak transcription	Spleen	Spleen
13	chr11:100841800-100849800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr11:100841800-100852200	Weak transcription	Esophagus	oesophagus
15	chr11:100844000-100860200	Strong transcription	Placenta	Placenta
16	chr11:100844200-100848400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr11:100844400-100848800	Strong transcription	HSMM	muscle
18	chr11:100844400-100850600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr11:100844600-100848200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr11:100844600-100848200	Strong transcription	Fetal Muscle Trunk	muscle
21	chr11:100844600-100848200	Strong transcription	Sigmoid Colon	Sigmoid Colon
22	chr11:100844600-100848400	Strong transcription	Rectal Mucosa Donor 29	rectum
23	chr11:100844600-100848600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
24	chr11:100844600-100848800	Strong transcription	Duodenum Mucosa	Duodenum
25	chr11:100844600-100849000	Strong transcription	Stomach Smooth Muscle	stomach
26	chr11:100844600-100849800	Strong transcription	Rectal Mucosa Donor 31	rectum
27	chr11:100844600-100850000	Strong transcription	Adipose Nuclei	Adipose
28	chr11:100844600-100850400	Strong transcription	Liver	Liver
29	chr11:100844800-100849800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr11:100844800-100863000	Weak transcription	Brain Anterior Caudate	brain
31	chr11:100845000-100848800	Strong transcription	Primary B cells from cord blood	blood
32	chr11:100845200-100848400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr11:100845200-100848800	Strong transcription	Duodenum Smooth Muscle	Duodenum
34	chr11:100845400-100848000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr11:100845400-100848600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr11:100845400-100849000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr11:100845400-100849200	Weak transcription	Lung	lung
38	chr11:100845400-100850000	Weak transcription	NHDF-Ad	bronchial
39	chr11:100845600-100849200	Strong transcription	Fetal Lung	lung
40	chr11:100845800-100848200	Strong transcription	Cortex derived primary cultured neurospheres	brain
41	chr11:100845800-100850800	Weak transcription	K562	blood
42	chr11:100846200-100848600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr11:100846200-100848600	Weak transcription	Brain Inferior Temporal Lobe	brain
44	chr11:100846200-100848800	Strong transcription	NH-A	brain
45	chr11:100846200-100857400	Weak transcription	Fetal Brain Male	brain
46	chr11:100846400-100848200	Strong transcription	Fetal Stomach	stomach
47	chr11:100846400-100855200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr11:100846600-100847800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr11:100846600-100847800	Strong transcription	Right Ventricle	heart
50	chr11:100846600-100848200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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