Variant report

Variant	rs11801282
Chromosome Location	chr1:227402910-227402911
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:227402647..227405396-chr1:227406531..227409406,3	K562	blood:

Extended variants
information (count: 51 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs11799389	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11800169	0.95[EUR][1000 genomes]
rs11800364	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11800959	1.00[ASN][1000 genomes]
rs11801012	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11802399	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11803651	0.85[EUR][1000 genomes]
rs11804181	0.95[EUR][1000 genomes]
rs11804807	1.00[AFR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11805012	1.00[ASN][1000 genomes]
rs11806633	1.00[ASN][1000 genomes]
rs11806721	0.82[CEU][hapmap];1.00[ASN][1000 genomes]
rs11807068	0.82[CEU][hapmap];1.00[ASN][1000 genomes]
rs11807375	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11807425	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11807957	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11808210	0.82[CEU][hapmap];1.00[ASN][1000 genomes]
rs11808670	1.00[ASN][1000 genomes]
rs11808674	0.82[CEU][hapmap];1.00[ASN][1000 genomes]
rs11809113	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11809905	1.00[ASN][1000 genomes]
rs11810440	0.82[CEU][hapmap]
rs11811210	0.93[AFR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11811620	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11811982	1.00[ASN][1000 genomes]
rs11812048	0.82[CEU][hapmap];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12402400	1.00[ASN][1000 genomes]
rs34125608	1.00[ASN][1000 genomes]
rs35601687	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36055753	0.87[EUR][1000 genomes]
rs41268741	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41268743	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41270147	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55811522	1.00[ASN][1000 genomes]
rs56100227	1.00[ASN][1000 genomes]
rs61515455	1.00[ASN][1000 genomes]
rs61834038	1.00[ASN][1000 genomes]
rs66602251	1.00[ASN][1000 genomes]
rs6671926	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73096355	1.00[ASN][1000 genomes]
rs73096357	1.00[ASN][1000 genomes]
rs7524967	0.82[CEU][hapmap];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7530155	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7535648	1.00[ASN][1000 genomes]
rs7547092	1.00[AFR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9660532	0.82[CEU][hapmap];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003656	chr1:227034700-227559665	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv535318	chr1:227034700-227559665	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
3	esv2830098	chr1:227295716-227422234	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv534002	chr1:227315186-228047108	Bivalent/Poised TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
5	nsv873242	chr1:227371906-227579344	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11801282	CDC42BPA	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:227333400-227405600	Weak transcription	Adipose Nuclei	Adipose
2	chr1:227346800-227403800	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr1:227346800-227405800	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr1:227346800-227406800	Weak transcription	Fetal Kidney	kidney
5	chr1:227348200-227408400	Weak transcription	Fetal Muscle Trunk	muscle
6	chr1:227348200-227412200	Weak transcription	Fetal Muscle Leg	muscle
7	chr1:227370000-227413600	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr1:227375600-227410800	Weak transcription	HepG2	liver
9	chr1:227376600-227412600	Weak transcription	Fetal Lung	lung
10	chr1:227380200-227405200	Weak transcription	Gastric	stomach
11	chr1:227380200-227421800	Weak transcription	Ovary	ovary
12	chr1:227380400-227404000	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr1:227380400-227406800	Weak transcription	NHDF-Ad	bronchial
14	chr1:227381600-227406600	Weak transcription	Duodenum Mucosa	Duodenum
15	chr1:227382000-227414000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr1:227383600-227421800	Weak transcription	Stomach Smooth Muscle	stomach
17	chr1:227386200-227433400	Weak transcription	Fetal Stomach	stomach
18	chr1:227386400-227413800	Weak transcription	Brain Anterior Caudate	brain
19	chr1:227386800-227406600	Weak transcription	Fetal Intestine Small	intestine
20	chr1:227387000-227413600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr1:227387400-227414000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
22	chr1:227390600-227413600	Weak transcription	Small Intestine	intestine
23	chr1:227396800-227413600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr1:227397000-227406800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
25	chr1:227398200-227413600	Weak transcription	NHLF	lung
26	chr1:227398600-227407000	Weak transcription	Lung	lung
27	chr1:227398800-227405600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr1:227398800-227407000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr1:227398800-227411200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr1:227398800-227413800	Weak transcription	HUES64 Cell Line	embryonic stem cell
31	chr1:227399000-227406400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr1:227399000-227406400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr1:227399000-227408800	Weak transcription	Liver	Liver
34	chr1:227399200-227406800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr1:227399200-227407000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
36	chr1:227399400-227411200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr1:227399400-227415400	Weak transcription	Cortex derived primary cultured neurospheres	brain
38	chr1:227399600-227413200	Weak transcription	HSMM	muscle
39	chr1:227399800-227407000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr1:227399800-227411000	Weak transcription	HUES48 Cell Line	embryonic stem cell
41	chr1:227400400-227403600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr1:227400400-227406600	Weak transcription	Fetal Intestine Large	intestine
43	chr1:227400400-227406600	Weak transcription	Right Ventricle	heart
44	chr1:227400400-227407600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr1:227400400-227408200	Weak transcription	K562	blood
46	chr1:227400400-227410800	Weak transcription	Brain Angular Gyrus	brain
47	chr1:227400400-227410800	Weak transcription	Brain Substantia Nigra	brain
48	chr1:227400400-227413000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr1:227400400-227413000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr1:227400400-227426800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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