Variant report

Variant	rs922062
Chromosome Location	chr11:8020344-8020345
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:8017899..8020620-chr11:8022528..8024447,3	K562	blood:
2	chr11:8010094..8012812-chr11:8018945..8021988,4	K562	blood:
3	chr11:8019325..8021766-chr11:8030520..8033012,2	K562	blood:

Extended variants
information (count: 24 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10839958	1.00[JPT][hapmap]
rs10839960	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10839962	0.86[CHB][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs11041699	0.86[CHB][hapmap]
rs11041702	0.95[ASN][1000 genomes]
rs1105984	0.86[CHB][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs1132660	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12275353	1.00[JPT][hapmap]
rs12278319	1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs12294650	0.98[ASN][1000 genomes]
rs3892448	0.93[ASN][1000 genomes]
rs3903047	0.93[ASN][1000 genomes]
rs4076921	0.86[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs4559682	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs4758038	1.00[JPT][hapmap];1.00[MEX][hapmap];0.91[ASN][1000 genomes]
rs6578918	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];0.94[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6578919	0.91[ASN][1000 genomes]
rs7125891	0.93[JPT][hapmap];0.84[ASN][1000 genomes]
rs7126561	0.85[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs7935597	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7941107	0.85[CHB][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs7941782	0.86[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs7950331	0.85[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 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

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs922062	GALNTL4	cis	parietal	SCAN
rs922062	OR51E2	cis	cerebellum	SCAN
rs922062	STK33	cis	parietal	SCAN
rs922062	OR5E1P	cis	parietal	SCAN
rs922062	OR52K2	cis	parietal	SCAN

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:8010600-8020400	Strong transcription	NH-A	brain
2	chr11:8010600-8020600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
3	chr11:8010600-8020800	Strong transcription	HUES48 Cell Line	embryonic stem cell
4	chr11:8010600-8022000	Strong transcription	HUES6 Cell Line	embryonic stem cell
5	chr11:8010600-8022400	Strong transcription	Primary B cells from cord blood	blood
6	chr11:8010800-8021400	Strong transcription	HUES64 Cell Line	embryonic stem cell
7	chr11:8010800-8021400	Strong transcription	Primary T cells fromperipheralblood	blood
8	chr11:8010800-8021600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr11:8010800-8022000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr11:8010800-8022000	Strong transcription	Primary B cells from peripheral blood	blood
11	chr11:8010800-8022000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr11:8010800-8033400	Weak transcription	Right Atrium	heart
13	chr11:8011000-8021800	Strong transcription	Fetal Thymus	thymus
14	chr11:8011200-8022800	Strong transcription	HSMM	muscle
15	chr11:8011400-8020600	Strong transcription	HSMMtube	muscle
16	chr11:8011400-8021200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr11:8011400-8022000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr11:8011400-8022000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr11:8011400-8022200	Strong transcription	HMEC	breast
20	chr11:8011600-8022200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr11:8011800-8020600	Strong transcription	Primary T helper cells PMA-I stimulated	--
22	chr11:8011800-8022000	Strong transcription	Primary T helper cells fromperipheralblood	blood
23	chr11:8011800-8022000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr11:8011800-8022000	Strong transcription	Osteobl	bone
25	chr11:8012000-8022000	Strong transcription	Muscle Satellite Cultured Cells	--
26	chr11:8012000-8022200	Strong transcription	Rectal Mucosa Donor 29	rectum
27	chr11:8012200-8022000	Strong transcription	Primary monocytes fromperipheralblood	blood
28	chr11:8012400-8020600	Strong transcription	Dnd41	blood
29	chr11:8012800-8020400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
30	chr11:8012800-8020600	Strong transcription	H1 Cell Line	embryonic stem cell
31	chr11:8012800-8020600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr11:8012800-8020800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
33	chr11:8012800-8020800	Strong transcription	Fetal Intestine Large	intestine
34	chr11:8012800-8021400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr11:8012800-8022000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr11:8012800-8022000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr11:8012800-8022000	Strong transcription	Duodenum Mucosa	Duodenum
38	chr11:8012800-8022000	Strong transcription	Left Ventricle	heart
39	chr11:8012800-8022200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr11:8012800-8022200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr11:8012800-8022200	Strong transcription	Fetal Lung	lung
42	chr11:8012800-8022200	Strong transcription	GM12878-XiMat	blood
43	chr11:8012800-8022200	Strong transcription	Monocytes-CD14+_RO01746	blood
44	chr11:8012800-8022400	Strong transcription	Liver	Liver
45	chr11:8012800-8022600	Strong transcription	A549	lung
46	chr11:8012800-8022800	Strong transcription	Fetal Muscle Leg	muscle
47	chr11:8013000-8020600	Strong transcription	Duodenum Smooth Muscle	Duodenum
48	chr11:8013000-8020800	Strong transcription	Gastric	stomach
49	chr11:8013000-8020800	Strong transcription	Stomach Smooth Muscle	stomach
50	chr11:8013000-8021200	Strong transcription	Placenta	Placenta

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