Variant report

Variant	rs11871251
Chromosome Location	chr17:45331427-45331428
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:45297983..45300898-chr17:45329772..45332242,2	K562	blood:

Variant related genes	Relation type
ENSG00000252088	Chromatin interaction

Extended variants
information (count: 47 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs1009312	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10438781	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10438782	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11871407	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11871447	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12937929	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2015049	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2037150	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2317384	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2317385	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.87[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];0.86[YRI][hapmap];0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34182248	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34492688	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35069360	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35125273	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35439279	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35704663	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3809861	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3809862	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.87[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];0.86[YRI][hapmap];0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4144744	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4144745	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4144746	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4541130	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs55677902	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55827077	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6504788	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6504789	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6504790	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs66738981	0.80[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67080286	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs67544603	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs67615769	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67923812	0.80[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7208055	0.81[EUR][1000 genomes]
rs7208170	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];0.95[JPT][hapmap];0.87[LWK][hapmap];0.86[MEX][hapmap];0.93[MKK][hapmap];0.97[TSI][hapmap];0.86[YRI][hapmap];0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7210182	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7211563	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7218524	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7218773	0.94[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7222617	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7223003	0.94[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7223766	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7224990	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7225134	0.93[CEU][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72823474	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8071784	0.94[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062983	chr17:45030095-45789543	Strong transcription Active TSS Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
2	esv3370617	chr17:45329978-45332826	Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs11871251	IFI35	cis	cerebellum	SCAN
rs11871251	LOC388387	cis	cerebellum	SCAN
rs11871251	WNK4	cis	cerebellum	SCAN
rs11871251	HAP1	cis	parietal	SCAN
rs11871251	MEOX1	cis	cerebellum	SCAN
rs11871251	DHX58	cis	parietal	SCAN

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:45328800-45332200	Enhancers	Fetal Heart	heart
2	chr17:45330600-45331800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr17:45330600-45331800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr17:45330600-45331800	Bivalent/Poised TSS	A549	lung
5	chr17:45330600-45332000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
6	chr17:45330600-45332200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
7	chr17:45330600-45332200	Bivalent/Poised TSS	Primary T cells from cord blood	blood
8	chr17:45330600-45332200	Flanking Bivalent TSS/Enh	Dnd41	blood
9	chr17:45330600-45332400	Active TSS	Rectal Mucosa Donor 29	rectum
10	chr17:45330600-45332800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr17:45330600-45333000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr17:45330600-45333000	Active TSS	Rectal Smooth Muscle	rectum
13	chr17:45330800-45331600	Bivalent/Poised TSS	Brain Germinal Matrix	brain
14	chr17:45330800-45331600	Active TSS	Brain Hippocampus Middle	brain
15	chr17:45330800-45331600	Bivalent/Poised TSS	Fetal Muscle Trunk	muscle
16	chr17:45330800-45331800	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
17	chr17:45330800-45331800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr17:45330800-45331800	Flanking Active TSS	Primary hematopoietic stem cells	blood
19	chr17:45330800-45331800	Bivalent/Poised TSS	Primary T killer naive cells fromperipheralblood	blood
20	chr17:45330800-45331800	Active TSS	Brain Angular Gyrus	brain
21	chr17:45330800-45331800	Active TSS	Brain Anterior Caudate	brain
22	chr17:45330800-45331800	Active TSS	Brain Substantia Nigra	brain
23	chr17:45330800-45331800	Bivalent/Poised TSS	Fetal Brain Female	brain
24	chr17:45330800-45331800	Active TSS	Spleen	Spleen
25	chr17:45330800-45331800	Active TSS	Hela-S3	cervix
26	chr17:45330800-45331800	Active TSS	HSMM	muscle
27	chr17:45330800-45331800	Active TSS	Osteobl	bone
28	chr17:45330800-45332000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
29	chr17:45330800-45332000	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr17:45330800-45332000	Active TSS	Brain Cingulate Gyrus	brain
31	chr17:45330800-45332000	Active TSS	Brain Inferior Temporal Lobe	brain
32	chr17:45330800-45332000	Active TSS	Pancreatic Islets	Pancreatic Islet
33	chr17:45330800-45332200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
34	chr17:45330800-45332200	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
35	chr17:45330800-45332200	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr17:45330800-45332200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
37	chr17:45330800-45332200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
38	chr17:45330800-45332200	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr17:45330800-45332200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr17:45330800-45332200	Bivalent Enhancer	Fetal Brain Male	brain
41	chr17:45330800-45332400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
42	chr17:45330800-45332400	Active TSS	Breast Myoepithelial Primary Cells	Breast
43	chr17:45330800-45332400	Active TSS	Aorta	Aorta
44	chr17:45330800-45332400	Active TSS	NHDF-Ad	bronchial
45	chr17:45330800-45332400	Active TSS	NHLF	lung
46	chr17:45330800-45333400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr17:45331000-45331600	Bivalent/Poised TSS	Primary T cells fromperipheralblood	blood
48	chr17:45331000-45331600	Bivalent/Poised TSS	Primary T helper 17 cells PMA-I stimulated	--
49	chr17:45331000-45331600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr17:45331000-45331600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain

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