Variant report

Variant	rs11601971
Chromosome Location	chr11:8085652-8085653
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	chr11:8084754..8086469-chr11:8088768..8090631,2	K562	blood:
2	chr11:8061407..8063255-chr11:8084785..8086285,2	K562	blood:

Extended variants
information (count: 37 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10734628	1.00[CHB][hapmap];0.82[GIH][hapmap]
rs11041732	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs11821236	1.00[ASN][1000 genomes]
rs11822728	1.00[ASN][1000 genomes]
rs11823329	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1406096	0.87[ASN][1000 genomes]
rs1881233	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1918849	1.00[CHB][hapmap];0.83[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[ASN][1000 genomes]
rs2141322	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2178152	1.00[CHB][hapmap]
rs35326533	0.87[ASN][1000 genomes]
rs35807385	1.00[ASN][1000 genomes]
rs36113068	0.87[ASN][1000 genomes]
rs4483583	1.00[CHB][hapmap];0.82[GIH][hapmap]
rs55642260	1.00[ASN][1000 genomes]
rs55810550	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55953869	1.00[ASN][1000 genomes]
rs55961279	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56242213	1.00[ASN][1000 genomes]
rs56657031	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58666270	1.00[ASN][1000 genomes]
rs59924750	1.00[ASN][1000 genomes]
rs7112750	0.87[ASN][1000 genomes]
rs7113956	0.87[ASN][1000 genomes]
rs7124782	0.81[ASN][1000 genomes]
rs73396771	0.87[ASN][1000 genomes]
rs73396784	0.87[ASN][1000 genomes]
rs74052193	1.00[ASN][1000 genomes]
rs74052195	1.00[ASN][1000 genomes]
rs74052196	1.00[ASN][1000 genomes]
rs74052199	1.00[ASN][1000 genomes]
rs7926428	1.00[JPT][hapmap]
rs7939493	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7941439	1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.83[TSI][hapmap];1.00[ASN][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	nsv1052808	chr11:8011647-8129191	Bivalent Enhancer Strong transcription Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
2	esv1829170	chr11:8068594-8216369	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv428249	chr11:8068594-8216369	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11601971	OR5E1P	cis	parietal	SCAN
rs11601971	OR51S1	cis	cerebellum	SCAN

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:8075800-8090000	Weak transcription	Spleen	Spleen
2	chr11:8078200-8090400	Enhancers	Adipose Nuclei	Adipose
3	chr11:8078400-8091400	Weak transcription	Esophagus	oesophagus
4	chr11:8080600-8091600	Enhancers	Right Ventricle	heart
5	chr11:8081000-8086200	Enhancers	Duodenum Smooth Muscle	Duodenum
6	chr11:8081800-8090000	Weak transcription	Brain Anterior Caudate	brain
7	chr11:8082200-8085800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr11:8082400-8085800	Enhancers	Brain Inferior Temporal Lobe	brain
9	chr11:8082400-8089800	Weak transcription	Brain Hippocampus Middle	brain
10	chr11:8082800-8093600	Weak transcription	Brain Angular Gyrus	brain
11	chr11:8083000-8089600	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr11:8083000-8089800	Weak transcription	HSMM	muscle
13	chr11:8083000-8090600	Enhancers	Left Ventricle	heart
14	chr11:8083200-8086200	Enhancers	Fetal Muscle Leg	muscle
15	chr11:8083200-8088000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr11:8083200-8089800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr11:8083400-8086200	Enhancers	Fetal Heart	heart
18	chr11:8083400-8089800	Weak transcription	Colonic Mucosa	Colon
19	chr11:8084000-8085800	Enhancers	Rectal Smooth Muscle	rectum
20	chr11:8084000-8086000	Enhancers	Fetal Lung	lung
21	chr11:8084200-8085800	Enhancers	NHDF-Ad	bronchial
22	chr11:8084400-8085800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr11:8084400-8086000	Enhancers	Ovary	ovary
24	chr11:8084800-8089800	Weak transcription	Fetal Intestine Large	intestine
25	chr11:8084800-8089800	Weak transcription	Lung	lung
26	chr11:8084800-8089800	Weak transcription	Psoas Muscle	Psoas
27	chr11:8084800-8090000	Weak transcription	Gastric	stomach
28	chr11:8085000-8086200	Enhancers	Colon Smooth Muscle	Colon
29	chr11:8085200-8085800	Enhancers	Osteobl	bone
30	chr11:8085200-8086200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr11:8085200-8086200	Enhancers	Stomach Smooth Muscle	stomach
32	chr11:8085200-8086600	Enhancers	Skeletal Muscle Female	skeletal muscle
33	chr11:8085200-8089600	Weak transcription	HSMMtube	muscle
34	chr11:8085200-8089800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr11:8085200-8090200	Weak transcription	Brain Substantia Nigra	brain
36	chr11:8085200-8090600	Weak transcription	Brain Cingulate Gyrus	brain
37	chr11:8085400-8085800	Enhancers	NHLF	lung
38	chr11:8085400-8086000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr11:8085400-8086200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr11:8085400-8086200	Enhancers	Right Atrium	heart
41	chr11:8085600-8086600	Enhancers	Skeletal Muscle Male	skeletal muscle
42	chr11:8085600-8089600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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