Variant report

Variant	rs4450151
Chromosome Location	chr11:36153721-36153722
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs11033468	1.00[JPT][hapmap]
rs1105373	1.00[JPT][hapmap]
rs12098947	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2204508	1.00[JPT][hapmap]
rs4756288	1.00[JPT][hapmap]
rs4756289	1.00[JPT][hapmap]
rs4756295	1.00[JPT][hapmap]
rs6484817	0.87[ASW][hapmap];0.88[YRI][hapmap];0.84[AFR][1000 genomes]
rs6484826	1.00[JPT][hapmap]
rs6484828	1.00[JPT][hapmap]
rs7106469	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7110901	1.00[JPT][hapmap]
rs7111128	0.95[CEU][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7481996	1.00[JPT][hapmap]
rs7931368	1.00[JPT][hapmap]

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	nsv467791	chr11:36108497-36999385	Flanking Active TSS Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv554003	chr11:36108497-36999385	ZNF genes & repeats Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
3	nsv897225	chr11:36136912-36244190	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv897226	chr11:36139934-36169869	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4450151	CCDC73	cis	cerebellum	SCAN
rs4450151	SLC1A2	cis	parietal	SCAN

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:36137400-36153800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr11:36137800-36171000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr11:36145200-36153800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr11:36145200-36154200	Weak transcription	NHLF	lung
5	chr11:36145400-36168000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr11:36145400-36170200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr11:36146800-36155600	Weak transcription	Fetal Kidney	kidney
8	chr11:36148000-36163200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr11:36148200-36154400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr11:36148200-36155600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr11:36148200-36163400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr11:36148600-36157600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr11:36148600-36162800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr11:36150000-36170000	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr11:36150400-36162800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr11:36151000-36154200	Enhancers	Brain Hippocampus Middle	brain
17	chr11:36151400-36154000	Enhancers	NHEK	skin
18	chr11:36151600-36157600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr11:36151800-36154000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr11:36152000-36153800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr11:36152000-36167400	Weak transcription	HSMMtube	muscle
22	chr11:36152200-36153800	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr11:36152200-36154200	Enhancers	Brain Germinal Matrix	brain
24	chr11:36152200-36154600	Enhancers	Breast Myoepithelial Primary Cells	Breast
25	chr11:36152400-36154400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr11:36152600-36153800	Enhancers	HUES48 Cell Line	embryonic stem cell
27	chr11:36152600-36153800	Enhancers	HUES64 Cell Line	embryonic stem cell
28	chr11:36152600-36154000	Enhancers	iPS-20b Cell Line	embryonic stem cell
29	chr11:36152600-36154000	Enhancers	Cortex derived primary cultured neurospheres	brain
30	chr11:36152600-36169000	Weak transcription	Fetal Intestine Small	intestine
31	chr11:36152800-36154000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr11:36152800-36154400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr11:36152800-36156000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr11:36152800-36156000	Weak transcription	Fetal Muscle Leg	muscle
35	chr11:36152800-36157600	Weak transcription	Fetal Muscle Trunk	muscle
36	chr11:36152800-36157600	Weak transcription	HSMM	muscle
37	chr11:36152800-36162800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr11:36152800-36163200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr11:36152800-36167600	Weak transcription	HMEC	breast
40	chr11:36153000-36154000	Enhancers	Fetal Lung	lung
41	chr11:36153000-36162800	Weak transcription	H9 Cell Line	embryonic stem cell
42	chr11:36153000-36163400	Weak transcription	H1 Cell Line	embryonic stem cell
43	chr11:36153200-36153800	Enhancers	Skeletal Muscle Female	skeletal muscle
44	chr11:36153200-36154000	Enhancers	Brain Anterior Caudate	brain
45	chr11:36153200-36154200	Enhancers	Brain Substantia Nigra	brain
46	chr11:36153200-36156000	Enhancers	Fetal Brain Male	brain
47	chr11:36153400-36154000	Enhancers	Fetal Brain Female	brain
48	chr11:36153400-36158600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr11:36153600-36153800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr11:36153600-36153800	Enhancers	iPS-15b Cell Line	embryonic stem cell

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