Variant report

Variant	rs360147
Chromosome Location	chr11:9790817-9790818
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs1032550	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10770060	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10770064	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10770065	0.94[ASN][1000 genomes]
rs10840305	0.93[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.94[ASN][1000 genomes]
rs10840306	1.00[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11042493	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12788348	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1875029	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1875030	0.98[EUR][1000 genomes]
rs1983002	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1996794	0.93[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.83[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs34328537	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34690050	0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35401279	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs360136	1.00[JPT][hapmap]
rs360137	0.83[CHB][hapmap];1.00[JPT][hapmap]
rs360157	0.94[CHB][hapmap];0.93[JPT][hapmap]
rs3751000	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs415895	0.94[JPT][hapmap]
rs429835	1.00[CEU][hapmap];0.89[CHB][hapmap];0.86[JPT][hapmap];0.84[YRI][hapmap];0.83[AFR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs440377	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4910063	0.93[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4910499	0.84[CHB][hapmap];1.00[JPT][hapmap]
rs7126913	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7934930	0.87[ASN][1000 genomes]
rs7935673	0.88[ASN][1000 genomes]
rs960909	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv933855	chr11:9645441-10130519	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv1053369	chr11:9647837-9876054	Genic enhancers Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv553468	chr11:9667828-9827871	Weak transcription Genic enhancers Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
4	nsv896987	chr11:9759918-9885849	Strong transcription Enhancers Genic enhancers Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
5	esv3384280	chr11:9766350-9911228	Flanking Bivalent TSS/Enh Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs360147	SWAP70	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:9780600-9813200	Weak transcription	Small Intestine	intestine
2	chr11:9780800-9794200	Enhancers	Fetal Muscle Leg	muscle
3	chr11:9781400-9795200	Weak transcription	Monocytes-CD14+_RO01746	blood
4	chr11:9781400-9800800	Weak transcription	Fetal Brain Female	brain
5	chr11:9781600-9798200	Weak transcription	Primary monocytes fromperipheralblood	blood
6	chr11:9781600-9801000	Weak transcription	Primary T cells from cord blood	blood
7	chr11:9781600-9809000	Weak transcription	Fetal Brain Male	brain
8	chr11:9781800-9799200	Weak transcription	Primary B cells from cord blood	blood
9	chr11:9781800-9799200	Weak transcription	Primary hematopoietic stem cells	blood
10	chr11:9781800-9801200	Weak transcription	Duodenum Mucosa	Duodenum
11	chr11:9781800-9801600	Weak transcription	Primary B cells from peripheral blood	blood
12	chr11:9782000-9798000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr11:9782200-9796200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr11:9782400-9791600	Weak transcription	A549	lung
15	chr11:9782400-9799400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr11:9782600-9797800	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr11:9784000-9797200	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr11:9784000-9801200	Weak transcription	Gastric	stomach
19	chr11:9784400-9797000	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr11:9787400-9792600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr11:9787400-9796200	Weak transcription	Esophagus	oesophagus
22	chr11:9787400-9796200	Weak transcription	Psoas Muscle	Psoas
23	chr11:9787400-9796800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr11:9787400-9799000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr11:9787400-9801000	Weak transcription	Aorta	Aorta
26	chr11:9787600-9792400	Weak transcription	Fetal Intestine Small	intestine
27	chr11:9787600-9796000	Weak transcription	Hela-S3	cervix
28	chr11:9787600-9797600	Weak transcription	Fetal Intestine Large	intestine
29	chr11:9787600-9799200	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr11:9787600-9799200	Weak transcription	Fetal Lung	lung
31	chr11:9787800-9795800	Weak transcription	Placenta Amnion	Placenta Amnion
32	chr11:9787800-9796200	Weak transcription	Stomach Smooth Muscle	stomach
33	chr11:9787800-9801000	Weak transcription	Rectal Mucosa Donor 29	rectum
34	chr11:9787800-9805200	Weak transcription	Colonic Mucosa	Colon
35	chr11:9788000-9791200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr11:9788000-9792600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr11:9788000-9796000	Weak transcription	Ovary	ovary
38	chr11:9788000-9796200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr11:9788000-9796200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr11:9788000-9796200	Weak transcription	Right Atrium	heart
41	chr11:9788000-9796600	Weak transcription	Pancreas	Pancrea
42	chr11:9788000-9801000	Weak transcription	Lung	lung
43	chr11:9788200-9795400	Weak transcription	Osteobl	bone
44	chr11:9788200-9796200	Weak transcription	HUES6 Cell Line	embryonic stem cell
45	chr11:9788200-9796200	Weak transcription	Right Ventricle	heart
46	chr11:9788200-9801000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr11:9788400-9791400	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr11:9788400-9795800	Weak transcription	Muscle Satellite Cultured Cells	--
49	chr11:9788600-9791000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr11:9788600-9792000	Weak transcription	Fetal Muscle Trunk	muscle

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