Variant report

Variant	rs3133936
Chromosome Location	chr8:110704493-110704494
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10090145	0.89[ASW][hapmap];0.82[CHB][hapmap];0.88[CHD][hapmap];0.95[JPT][hapmap];0.89[ASN][1000 genomes]
rs10505131	0.80[CEU][hapmap];0.90[JPT][hapmap]
rs10505132	0.87[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.88[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs11774663	0.89[ASN][1000 genomes]
rs11998387	0.82[CHB][hapmap];0.88[CHD][hapmap];0.95[JPT][hapmap];0.89[ASN][1000 genomes]
rs13256586	0.87[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs13268243	0.89[ASW][hapmap];0.87[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];0.94[MEX][hapmap];0.89[MKK][hapmap];0.83[YRI][hapmap];0.91[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs1573853	0.89[ASW][hapmap];0.82[CHB][hapmap];0.88[CHD][hapmap];0.95[JPT][hapmap];0.89[ASN][1000 genomes]
rs2702	0.87[CEU][hapmap];0.95[JPT][hapmap];0.85[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs3108829	0.87[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs3108832	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs3108837	0.87[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.92[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs3108840	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3108853	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs3108854	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs3108862	0.91[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs3108865	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs3108869	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs3133922	0.87[ASN][1000 genomes]
rs3133926	0.89[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs3133927	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs3133935	0.95[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs3133937	0.98[ASN][1000 genomes]
rs3134314	0.95[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs3134317	0.91[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs3134319	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs3134325	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs3134331	0.89[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs6469275	0.89[ASW][hapmap];0.87[CEU][hapmap];0.82[CHB][hapmap];0.91[CHD][hapmap];0.95[JPT][hapmap];0.83[LWK][hapmap];0.94[MEX][hapmap];0.89[MKK][hapmap];0.83[YRI][hapmap];0.88[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs6985646	0.88[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs7008447	0.87[CEU][hapmap];0.82[CHB][hapmap];0.91[CHD][hapmap];0.95[JPT][hapmap];0.94[MEX][hapmap];0.88[AMR][1000 genomes];0.87[ASN][1000 genomes]

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs3133936	PKHD1L1	cis	lymphoblastoid	seeQTL
rs3133936	KCNV1	cis	lymphoblastoid	seeQTL
rs3133936	SYBU	cis	parietal	SCAN
rs3133936	PKHD1L1	cis	Lymphoblastoid	GTEx

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:110701800-110705600	Enhancers	Fetal Brain Male	brain
2	chr8:110702400-110704600	Active TSS	Duodenum Mucosa	Duodenum
3	chr8:110702600-110704600	Active TSS	Pancreatic Islets	Pancreatic Islet
4	chr8:110702600-110705000	Active TSS	Brain Inferior Temporal Lobe	brain
5	chr8:110702800-110704800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
6	chr8:110703000-110705000	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
7	chr8:110703200-110704600	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
8	chr8:110703200-110704600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
9	chr8:110703200-110704600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
10	chr8:110703200-110704600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
11	chr8:110703200-110704600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
12	chr8:110703400-110705000	Active TSS	Stomach Smooth Muscle	stomach
13	chr8:110703600-110704600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr8:110703600-110704600	Active TSS	Brain Germinal Matrix	brain
15	chr8:110703600-110704800	Bivalent/Poised TSS	Primary hematopoietic stem cells	blood
16	chr8:110703600-110705000	Bivalent Enhancer	Fetal Lung	lung
17	chr8:110704200-110704600	Flanking Bivalent TSS/Enh	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr8:110704200-110704600	Flanking Active TSS	Fetal Intestine Small	intestine
19	chr8:110704200-110704600	Flanking Active TSS	HepG2	liver
20	chr8:110704400-110704600	Flanking Bivalent TSS/Enh	ES-I3 Cell Line	embryonic stem cell
21	chr8:110704400-110704600	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
22	chr8:110704400-110704600	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
23	chr8:110704400-110704600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr8:110704400-110704600	Bivalent/Poised TSS	Brain Anterior Caudate	brain
25	chr8:110704400-110704600	Enhancers	Fetal Brain Female	brain
26	chr8:110704400-110704800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
27	chr8:110704400-110704800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr8:110704400-110704800	Enhancers	Rectal Smooth Muscle	rectum
29	chr8:110704400-110705000	Enhancers	Cortex derived primary cultured neurospheres	brain
30	chr8:110704400-110705200	Enhancers	Fetal Intestine Large	intestine

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