Variant report

Variant	rs10791440
Chromosome Location	chr11:100849673-100849674
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:100848053..100849856-chr11:100874640..100877609,2	K562	blood:
2	chr11:100849467..100854913-chr11:100993227..101000778,12	MCF-7	breast:
3	chr11:100849094..100850611-chr11:100903431..100905166,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000082175	Chromatin interaction

Extended variants
information (count: 87 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:85)

rs_ID	r²[population]
rs10501968	1.00[CHB][hapmap];0.81[JPT][hapmap]
rs10791431	0.84[EUR][1000 genomes]
rs11224507	0.83[EUR][1000 genomes]
rs11224509	0.81[AMR][1000 genomes];0.84[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];0.86[EUR][1000 genomes]
rs11534487	0.81[AMR][1000 genomes];0.84[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	0.84[EUR][1000 genomes]
rs1940221	0.85[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	0.84[EUR][1000 genomes]
rs2165665	0.81[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	0.84[EUR][1000 genomes]
rs2407825	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2897779	0.84[EUR][1000 genomes]
rs471933	0.92[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];0.85[EUR][1000 genomes]
rs4754709	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs479135	1.00[CHB][hapmap]
rs485269	0.88[CEU][hapmap];0.83[CHB][hapmap];0.92[JPT][hapmap];1.00[YRI][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs497234	1.00[CHB][hapmap];0.81[JPT][hapmap]
rs505458	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs507858	1.00[CEU][hapmap];0.94[CHB][hapmap];0.98[GIH][hapmap];0.81[JPT][hapmap];1.00[MEX][hapmap];0.85[TSI][hapmap];0.89[YRI][hapmap];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs515868	1.00[CHB][hapmap];0.81[JPT][hapmap]
rs516873	0.88[CEU][hapmap];1.00[CHB][hapmap];0.80[JPT][hapmap];0.96[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs527433	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs533384	0.91[ASW][hapmap];0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs533571	0.91[ASW][hapmap];0.91[GIH][hapmap];0.82[TSI][hapmap]
rs535747	0.93[CEU][hapmap];1.00[YRI][hapmap];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs540866	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.85[TSI][hapmap];0.88[YRI][hapmap];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs543146	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.81[JPT][hapmap];0.85[TSI][hapmap];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs549510	1.00[CHB][hapmap];0.80[JPT][hapmap]
rs551632	0.82[GIH][hapmap]
rs552490	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.81[JPT][hapmap];0.96[MEX][hapmap];0.85[TSI][hapmap];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs555825	1.00[CHB][hapmap];0.81[JPT][hapmap]
rs55745131	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs56320976	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs563460	1.00[CHB][hapmap];0.81[JPT][hapmap]
rs568618	0.82[CEU][hapmap];1.00[CHB][hapmap];0.81[JPT][hapmap];0.88[YRI][hapmap];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs569336	0.80[CEU][hapmap]
rs575734	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]
rs576472	1.00[CHB][hapmap];0.81[JPT][hapmap]
rs583415	1.00[CHB][hapmap];0.81[JPT][hapmap]
rs590616	0.91[ASW][hapmap];0.91[GIH][hapmap];1.00[LWK][hapmap];0.82[TSI][hapmap];0.91[AFR][1000 genomes]
rs631172	0.95[CEU][hapmap];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs634968	0.95[CEU][hapmap];1.00[CHB][hapmap];0.81[JPT][hapmap];0.85[EUR][1000 genomes]
rs640326	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.81[JPT][hapmap];0.96[MEX][hapmap];0.85[TSI][hapmap];0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs658497	0.95[CEU][hapmap];1.00[CHB][hapmap];0.81[JPT][hapmap];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs659034	0.95[AMR][1000 genomes];0.94[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	0.95[CEU][hapmap];1.00[CHB][hapmap];0.81[JPT][hapmap];0.88[YRI][hapmap];0.96[AMR][1000 genomes];0.86[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
rs10791440	TMEM133	cis	lymphoblastoid	seeQTL

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:100810000-100852200	Weak transcription	Small Intestine	intestine
2	chr11:100830600-100858200	Weak transcription	Colonic Mucosa	Colon
3	chr11:100834400-100851600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr11:100841400-100850000	Weak transcription	Pancreas	Pancrea
5	chr11:100841600-100852200	Weak transcription	Spleen	Spleen
6	chr11:100841800-100849800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr11:100841800-100852200	Weak transcription	Esophagus	oesophagus
8	chr11:100844000-100860200	Strong transcription	Placenta	Placenta
9	chr11:100844400-100850600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr11:100844600-100849800	Strong transcription	Rectal Mucosa Donor 31	rectum
11	chr11:100844600-100850000	Strong transcription	Adipose Nuclei	Adipose
12	chr11:100844600-100850400	Strong transcription	Liver	Liver
13	chr11:100844800-100849800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr11:100844800-100863000	Weak transcription	Brain Anterior Caudate	brain
15	chr11:100845400-100850000	Weak transcription	NHDF-Ad	bronchial
16	chr11:100845800-100850800	Weak transcription	K562	blood
17	chr11:100846200-100857400	Weak transcription	Fetal Brain Male	brain
18	chr11:100846400-100855200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr11:100846600-100850000	Strong transcription	Fetal Muscle Leg	muscle
20	chr11:100846800-100851200	Weak transcription	Brain Hippocampus Middle	brain
21	chr11:100847000-100855200	Weak transcription	Primary B cells from peripheral blood	blood
22	chr11:100847200-100850600	Weak transcription	Aorta	Aorta
23	chr11:100847800-100850200	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
24	chr11:100847800-100852200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr11:100847800-100854400	Weak transcription	Right Ventricle	heart
26	chr11:100848000-100851800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr11:100848000-100861800	Weak transcription	Fetal Heart	heart
28	chr11:100848200-100849800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr11:100848200-100850800	Weak transcription	Fetal Muscle Trunk	muscle
30	chr11:100848200-100851600	Weak transcription	Ovary	ovary
31	chr11:100848200-100856200	Weak transcription	Fetal Intestine Small	intestine
32	chr11:100848200-100856400	Weak transcription	Fetal Stomach	stomach
33	chr11:100848200-100857400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr11:100848200-100858600	Weak transcription	Gastric	stomach
35	chr11:100848200-100859600	Weak transcription	Stomach Mucosa	stomach
36	chr11:100848200-100861200	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr11:100848200-100866000	Weak transcription	Psoas Muscle	Psoas
38	chr11:100848400-100851800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr11:100848400-100852400	Weak transcription	Primary T cells from cord blood	blood
40	chr11:100848400-100859800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr11:100848400-100859800	Weak transcription	Fetal Kidney	kidney
42	chr11:100848400-100860800	Weak transcription	Skeletal Muscle Male	skeletal muscle
43	chr11:100848400-100863200	Weak transcription	Fetal Intestine Large	intestine
44	chr11:100848400-100864600	Weak transcription	Rectal Mucosa Donor 29	rectum
45	chr11:100848600-100850000	Enhancers	ES-I3 Cell Line	embryonic stem cell
46	chr11:100848600-100852800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr11:100848600-100859200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr11:100848600-100863400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
49	chr11:100848600-100865200	Weak transcription	Left Ventricle	heart
50	chr11:100848600-100865800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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