Variant report

Variant	rs11581556
Chromosome Location	chr1:161793612-161793613
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	chr1:161773345..161775131-chr1:161792112..161794630,2	K562	blood:
2	chr1:156471035..156472713-chr1:161792579..161794633,2	K562	blood:

Extended variants
information (count: 31 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs1006310	0.88[CHD][hapmap];0.82[ASN][1000 genomes]
rs1027700	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1058405	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10918137	0.82[ASN][1000 genomes]
rs10918243	0.91[ASN][1000 genomes]
rs11576878	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11579627	0.82[ASW][hapmap];0.90[CEU][hapmap];0.90[GIH][hapmap];0.83[MEX][hapmap];0.85[MKK][hapmap];0.82[TSI][hapmap]
rs11590304	0.92[ASN][1000 genomes]
rs12124509	0.82[ASN][1000 genomes]
rs12130299	0.85[CHB][hapmap];0.90[JPT][hapmap];0.81[ASN][1000 genomes]
rs2257107	0.81[ASN][1000 genomes]
rs2340720	0.81[ASN][1000 genomes]
rs2340721	0.81[ASN][1000 genomes]
rs3767634	0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3820449	0.85[CHB][hapmap];0.88[CHD][hapmap];0.84[JPT][hapmap];0.81[ASN][1000 genomes]
rs4656336	0.81[ASN][1000 genomes]
rs4657106	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4657121	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56041058	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61802507	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61802510	0.82[ASN][1000 genomes]
rs6683830	0.82[ASN][1000 genomes]
rs7414603	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7519514	0.86[CHB][hapmap]
rs7529356	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs905594	0.86[CHB][hapmap];0.88[CHD][hapmap]
rs931778	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv428257	chr1:161406315-161868263	Bivalent/Poised TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	esv33393	chr1:161478681-162080327	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
3	nsv464184	chr1:161646807-161885352	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
4	nsv548075	chr1:161646807-161885352	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11581556	CCDC19	cis	cerebellum	SCAN
rs11581556	OTUD5	trans	parietal	SCAN

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:161738600-161794000	Weak transcription	Pancreas	Pancrea
2	chr1:161738600-161795600	Weak transcription	Gastric	stomach
3	chr1:161753400-161800600	Weak transcription	Spleen	Spleen
4	chr1:161757400-161797000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr1:161762400-161795400	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr1:161762800-161797600	Weak transcription	HMEC	breast
7	chr1:161763000-161797400	Weak transcription	NHLF	lung
8	chr1:161773400-161797200	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr1:161773400-161854400	Weak transcription	Small Intestine	intestine
10	chr1:161775800-161794800	Weak transcription	Fetal Stomach	stomach
11	chr1:161780200-161797200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr1:161780400-161795000	Weak transcription	Esophagus	oesophagus
13	chr1:161780400-161795000	Weak transcription	Left Ventricle	heart
14	chr1:161780400-161798800	Strong transcription	Primary monocytes fromperipheralblood	blood
15	chr1:161780400-161824400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr1:161780600-161798800	Strong transcription	Monocytes-CD14+_RO01746	blood
17	chr1:161780600-161808200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr1:161780600-161823400	Weak transcription	A549	lung
19	chr1:161780600-161836600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr1:161780800-161795000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr1:161780800-161795200	Weak transcription	Brain Germinal Matrix	brain
22	chr1:161780800-161795600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr1:161780800-161797600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr1:161780800-161798200	Weak transcription	Psoas Muscle	Psoas
25	chr1:161780800-161812400	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr1:161780800-161823000	Weak transcription	HSMMtube	muscle
27	chr1:161780800-161825800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr1:161780800-161834000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr1:161781000-161823000	Weak transcription	Fetal Kidney	kidney
30	chr1:161781200-161796600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr1:161781400-161801000	Weak transcription	HUES64 Cell Line	embryonic stem cell
32	chr1:161783200-161795400	Strong transcription	Primary T helper cells fromperipheralblood	blood
33	chr1:161785400-161822400	Weak transcription	Fetal Intestine Small	intestine
34	chr1:161786000-161797000	Weak transcription	Osteobl	bone
35	chr1:161786800-161797000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr1:161786800-161797200	Weak transcription	Hela-S3	cervix
37	chr1:161787400-161804600	Weak transcription	NHDF-Ad	bronchial
38	chr1:161787600-161797000	Weak transcription	Fetal Heart	heart
39	chr1:161787600-161809800	Weak transcription	Rectal Smooth Muscle	rectum
40	chr1:161787600-161821000	Weak transcription	Stomach Smooth Muscle	stomach
41	chr1:161788600-161795000	Weak transcription	Stomach Mucosa	stomach
42	chr1:161788800-161796400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr1:161789200-161795200	Strong transcription	Primary T helper cells PMA-I stimulated	--
44	chr1:161789400-161794400	Strong transcription	Adipose Nuclei	Adipose
45	chr1:161789400-161795600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr1:161789600-161795600	Strong transcription	Rectal Mucosa Donor 31	rectum
47	chr1:161789600-161798800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr1:161789800-161795400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr1:161789800-161798800	Strong transcription	Primary T cells from cord blood	blood
50	chr1:161790000-161794200	Strong transcription	Primary hematopoietic stem cells	blood

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