Variant report

Variant	rs11071175
Chromosome Location	chr15:55560425-55560426
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:55558293..55561051-chr15:55570591..55574257,3	K562	blood:
2	chr15:55531824..55533387-chr15:55558858..55561281,2	K562	blood:
3	chr15:55531824..55534011-chr15:55559781..55562269,2	K562	blood:
4	chr15:55557767..55561627-chr15:55569250..55572425,4	K562	blood:
5	chr15:55545838..55548100-chr15:55559043..55560883,2	K562	blood:
6	chr15:55559026..55561608-chr15:55564139..55565881,2	K562	blood:
7	chr15:55529177..55531366-chr15:55559639..55562184,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs11071177	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12440730	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12595377	0.84[ASN][1000 genomes]
rs12902710	0.94[CHB][hapmap];0.93[CHD][hapmap]
rs12910733	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12912490	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.91[LWK][hapmap];0.88[MEX][hapmap];0.85[MKK][hapmap];0.98[TSI][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs574923	0.94[CHB][hapmap]
rs6493776	0.84[ASN][1000 genomes]
rs678892	0.94[CHB][hapmap];0.90[CHD][hapmap]
rs7166125	0.84[ASN][1000 genomes]
rs8026689	0.94[CHB][hapmap]
rs8032594	0.93[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];0.87[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8036244	0.94[CHB][hapmap]
rs8036345	0.94[CHB][hapmap];0.97[CHD][hapmap]
rs8036729	0.83[ASN][1000 genomes]
rs8040540	0.94[CHB][hapmap];0.97[CHD][hapmap]
rs8182068	0.96[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.89[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs9972478	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1043176	chr15:55010228-55563000	Genic enhancers Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv1042741	chr15:55068022-55622497	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv917323	chr15:55290499-56041334	Genic enhancers Active TSS ZNF genes & repeats Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
4	nsv1043789	chr15:55400872-56092454	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
5	nsv1036924	chr15:55527874-55616480	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
6	nsv1051046	chr15:55529291-55821973	Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
7	nsv569522	chr15:55532211-55611126	Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
8	nsv904241	chr15:55534342-55611126	Weak transcription Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
9	nsv1036173	chr15:55547689-55812194	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
10	nsv542391	chr15:55547689-55812194	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
11	nsv904242	chr15:55550755-55611126	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
12	nsv569523	chr15:55555602-55836704	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
13	nsv569524	chr15:55558624-55612511	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs11071175	RAB27A	cis	cerebellum	SCAN
rs11071175	RSL24D1	cis	lymphoblastoid	seeQTL
rs11071175	PIGB	cis	cerebellum	SCAN
rs11071175	PIGB	cis	parietal	SCAN

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:55490000-55562800	Weak transcription	Ovary	ovary
2	chr15:55520800-55574800	Weak transcription	Stomach Smooth Muscle	stomach
3	chr15:55540600-55561200	Weak transcription	Esophagus	oesophagus
4	chr15:55542400-55581000	Weak transcription	Fetal Intestine Small	intestine
5	chr15:55545200-55561000	Weak transcription	Lung	lung
6	chr15:55547800-55571400	Weak transcription	Aorta	Aorta
7	chr15:55548600-55574800	Weak transcription	Left Ventricle	heart
8	chr15:55549200-55571600	Weak transcription	HMEC	breast
9	chr15:55550000-55571400	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr15:55551000-55561200	Weak transcription	Fetal Kidney	kidney
11	chr15:55553200-55581000	Weak transcription	Fetal Intestine Large	intestine
12	chr15:55557600-55561600	Strong transcription	Liver	Liver
13	chr15:55559000-55560600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
14	chr15:55559000-55560600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
15	chr15:55559000-55560800	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
16	chr15:55559000-55560800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
17	chr15:55559200-55560600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr15:55559200-55560600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
19	chr15:55559200-55560800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr15:55559200-55561400	Enhancers	Pancreas	Pancrea
21	chr15:55559400-55560600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr15:55559400-55560600	Enhancers	Cortex derived primary cultured neurospheres	brain
23	chr15:55559400-55560600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
24	chr15:55559600-55560600	Enhancers	Breast Myoepithelial Primary Cells	Breast
25	chr15:55559600-55560600	Enhancers	NHLF	lung
26	chr15:55559600-55561000	Enhancers	Stomach Mucosa	stomach
27	chr15:55559600-55563200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr15:55559800-55560600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr15:55559800-55561600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
30	chr15:55559800-55562800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr15:55559800-55569400	Weak transcription	Rectal Mucosa Donor 31	rectum
32	chr15:55559800-55571200	Weak transcription	Pancreatic Islets	Pancreatic Islet
33	chr15:55560000-55560600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr15:55560000-55560600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
35	chr15:55560000-55560800	Enhancers	Fetal Thymus	thymus
36	chr15:55560000-55560800	Enhancers	NH-A	brain
37	chr15:55560000-55561000	Enhancers	Primary B cells from peripheral blood	blood
38	chr15:55560000-55561200	Weak transcription	Fetal Stomach	stomach
39	chr15:55560000-55562600	Weak transcription	Colon Smooth Muscle	Colon
40	chr15:55560000-55566200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
41	chr15:55560200-55560600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr15:55560200-55560600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr15:55560200-55560600	Enhancers	Osteobl	bone
44	chr15:55560200-55560800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr15:55560200-55560800	Enhancers	Primary hematopoietic stem cells short term culture	blood
46	chr15:55560200-55560800	Enhancers	HUVEC	blood vessel
47	chr15:55560200-55560800	Genic enhancers	K562	blood
48	chr15:55560200-55561000	Enhancers	Primary monocytes fromperipheralblood	blood
49	chr15:55560200-55561400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr15:55560200-55563200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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