Variant report

Variant	rs6578918
Chromosome Location	chr11:8019790-8019791
allele	A/C
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	chr11:8015313..8017095-chr11:8017498..8020187,2	K562	blood:
4	chr11:8019325..8021766-chr11:8030520..8033012,2	K562	blood:

Variant related genes	Relation type
ENSG00000175390	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 7 )

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];0.87[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	0.82[AFR][1000 genomes];0.96[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];0.94[MEX][hapmap];0.91[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];0.84[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]
rs922062	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]

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:7)

SNP	Gene	Cis/trans	Tissue	Source
rs6578918	OR52K2	cis	parietal	SCAN
rs6578918	LOC339799	trans	multi-tissue	Pritchard
rs6578918	RPL27A	cis	brain	seeQTL
rs6578918	OR51E2	cis	cerebellum	SCAN
rs6578918	STK33	cis	parietal	SCAN
rs6578918	GALNTL4	cis	parietal	SCAN
rs6578918	OR5E1P	cis	parietal	SCAN

Chromatin state (count:125 , 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	chr11:8010800-8019800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr11:8010800-8021400	Strong transcription	HUES64 Cell Line	embryonic stem cell
8	chr11:8010800-8021400	Strong transcription	Primary T cells fromperipheralblood	blood
9	chr11:8010800-8021600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr11:8010800-8022000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr11:8010800-8022000	Strong transcription	Primary B cells from peripheral blood	blood
12	chr11:8010800-8022000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr11:8010800-8033400	Weak transcription	Right Atrium	heart
14	chr11:8011000-8020200	Strong transcription	Hela-S3	cervix
15	chr11:8011000-8020200	Strong transcription	K562	blood
16	chr11:8011000-8021800	Strong transcription	Fetal Thymus	thymus
17	chr11:8011200-8020200	Strong transcription	HepG2	liver
18	chr11:8011200-8022800	Strong transcription	HSMM	muscle
19	chr11:8011400-8020600	Strong transcription	HSMMtube	muscle
20	chr11:8011400-8021200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr11:8011400-8022000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr11:8011400-8022000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr11:8011400-8022200	Strong transcription	HMEC	breast
24	chr11:8011600-8022200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr11:8011800-8020000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
26	chr11:8011800-8020600	Strong transcription	Primary T helper cells PMA-I stimulated	--
27	chr11:8011800-8022000	Strong transcription	Primary T helper cells fromperipheralblood	blood
28	chr11:8011800-8022000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr11:8011800-8022000	Strong transcription	Osteobl	bone
30	chr11:8012000-8022000	Strong transcription	Muscle Satellite Cultured Cells	--
31	chr11:8012000-8022200	Strong transcription	Rectal Mucosa Donor 29	rectum
32	chr11:8012200-8019800	Strong transcription	Brain Hippocampus Middle	brain
33	chr11:8012200-8022000	Strong transcription	Primary monocytes fromperipheralblood	blood
34	chr11:8012400-8020600	Strong transcription	Dnd41	blood
35	chr11:8012800-8019800	Strong transcription	Cortex derived primary cultured neurospheres	brain
36	chr11:8012800-8020000	Strong transcription	Rectal Mucosa Donor 31	rectum
37	chr11:8012800-8020200	Strong transcription	ES-I3 Cell Line	embryonic stem cell
38	chr11:8012800-8020200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr11:8012800-8020200	Strong transcription	Brain Germinal Matrix	brain
40	chr11:8012800-8020400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
41	chr11:8012800-8020600	Strong transcription	H1 Cell Line	embryonic stem cell
42	chr11:8012800-8020600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr11:8012800-8020800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
44	chr11:8012800-8020800	Strong transcription	Fetal Intestine Large	intestine
45	chr11:8012800-8021400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr11:8012800-8022000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr11:8012800-8022000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr11:8012800-8022000	Strong transcription	Duodenum Mucosa	Duodenum
49	chr11:8012800-8022000	Strong transcription	Left Ventricle	heart
50	chr11:8012800-8022200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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