Variant report

Variant	rs6767186
Chromosome Location	chr3:111605826-111605827
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10934118	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10934119	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10934121	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10934122	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10934123	0.90[YRI][hapmap]
rs11922171	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13064071	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13065448	0.84[CHB][hapmap]
rs13070728	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1500045	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1500046	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1587455	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2055364	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4682322	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4682323	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6438021	0.91[YRI][hapmap]
rs6775272	0.81[ASN][1000 genomes]
rs6781879	1.00[CEU][hapmap];0.84[JPT][hapmap];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6784285	0.90[YRI][hapmap]
rs6785402	0.80[ASN][1000 genomes]
rs6786077	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6789911	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6796290	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6805339	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6805359	1.00[CEU][hapmap];0.84[JPT][hapmap];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7621455	0.82[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs7621473	0.84[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs7640094	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7649418	0.82[AMR][1000 genomes];0.93[EUR][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	nsv829676	chr3:111464087-111619200	Genic enhancers Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6767186	PHLDB2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:111585200-111622000	Weak transcription	HSMMtube	muscle
2	chr3:111585400-111609000	Weak transcription	Esophagus	oesophagus
3	chr3:111591600-111610600	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr3:111591600-111633200	Weak transcription	Fetal Kidney	kidney
5	chr3:111593600-111608800	Weak transcription	Rectal Smooth Muscle	rectum
6	chr3:111598400-111612600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr3:111601200-111612400	Strong transcription	NHEK	skin
8	chr3:111601600-111620400	Weak transcription	Fetal Lung	lung
9	chr3:111601800-111620600	Weak transcription	NHDF-Ad	bronchial
10	chr3:111602000-111612400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr3:111602400-111606200	Strong transcription	Hela-S3	cervix
12	chr3:111602600-111611000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr3:111602600-111611400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr3:111602600-111611400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr3:111602800-111607200	Weak transcription	Primary B cells from cord blood	blood
16	chr3:111603000-111606400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
17	chr3:111603000-111607000	Strong transcription	Osteobl	bone
18	chr3:111603200-111607800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr3:111603200-111610200	Strong transcription	HMEC	breast
20	chr3:111603400-111609400	Strong transcription	HSMM	muscle
21	chr3:111603400-111610000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr3:111603600-111607600	Strong transcription	NH-A	brain
23	chr3:111604000-111632200	Weak transcription	Gastric	stomach
24	chr3:111604200-111606400	Strong transcription	Placenta	Placenta
25	chr3:111604200-111609800	Weak transcription	Lung	lung
26	chr3:111604200-111611800	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr3:111604200-111617400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr3:111604200-111617600	Weak transcription	Pancreatic Islets	Pancreatic Islet
29	chr3:111604400-111606000	Weak transcription	Primary T cells fromperipheralblood	blood
30	chr3:111604400-111606000	Weak transcription	Rectal Mucosa Donor 29	rectum
31	chr3:111604400-111606200	Weak transcription	HepG2	liver
32	chr3:111604400-111607200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr3:111604400-111607200	Weak transcription	A549	lung
34	chr3:111604400-111608200	Weak transcription	Fetal Stomach	stomach
35	chr3:111604400-111609400	Weak transcription	Colon Smooth Muscle	Colon
36	chr3:111604400-111609800	Weak transcription	Aorta	Aorta
37	chr3:111604400-111609800	Weak transcription	Left Ventricle	heart
38	chr3:111604400-111609800	Weak transcription	Right Ventricle	heart
39	chr3:111604400-111610000	Weak transcription	Pancreas	Pancrea
40	chr3:111604400-111610800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr3:111604400-111611800	Weak transcription	Spleen	Spleen
42	chr3:111604400-111614600	Weak transcription	Fetal Intestine Small	intestine
43	chr3:111604400-111614800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr3:111604400-111617200	Weak transcription	Fetal Muscle Leg	muscle
45	chr3:111604400-111617400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr3:111604400-111618000	Weak transcription	Placenta Amnion	Placenta Amnion
47	chr3:111604400-111618200	Weak transcription	Fetal Muscle Trunk	muscle
48	chr3:111604400-111620600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr3:111604400-111621600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr3:111604400-111622000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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