Variant report

Variant	rs11211021
Chromosome Location	chr1:45123135-45123136
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs11211020	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12022162	0.90[JPT][hapmap];0.83[YRI][hapmap]
rs270729	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes]
rs3850853	0.83[TSI][hapmap];0.85[EUR][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	nsv533037	chr1:44361728-45333408	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	469 gene(s)	inside rSNPs	diseases
2	nsv1004861	chr1:44843654-45210176	Flanking Active TSS Genic enhancers Enhancers Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	346 gene(s)	inside rSNPs	diseases
3	nsv534940	chr1:44843654-45210176	Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	346 gene(s)	inside rSNPs	diseases
4	nsv998476	chr1:45001278-45311757	Flanking Active TSS Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	426 gene(s)	inside rSNPs	diseases
5	nsv534941	chr1:45001278-45311757	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	426 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs11211021	MUTYH	cis	parietal	SCAN
rs11211021	ZNF684	cis	cerebellum	SCAN
rs11211021	DMAP1	cis	parietal	SCAN
rs11211021	AKR1A1	cis	cerebellum	SCAN
rs11211021	IPO13	cis	cerebellum	SCAN

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:45099800-45125600	Strong transcription	Lung	lung
2	chr1:45104000-45138200	Weak transcription	Fetal Brain Male	brain
3	chr1:45106800-45124800	Weak transcription	Fetal Heart	heart
4	chr1:45111200-45128000	Weak transcription	Right Atrium	heart
5	chr1:45113000-45126200	Weak transcription	Small Intestine	intestine
6	chr1:45113200-45125800	Strong transcription	Fetal Stomach	stomach
7	chr1:45114600-45130000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr1:45115000-45126000	Weak transcription	HMEC	breast
9	chr1:45115200-45137800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr1:45115600-45125800	Weak transcription	HSMM	muscle
11	chr1:45115800-45125000	Weak transcription	Fetal Kidney	kidney
12	chr1:45115800-45138000	Weak transcription	NHDF-Ad	bronchial
13	chr1:45116000-45124400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr1:45116000-45130000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
15	chr1:45116600-45127600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr1:45116800-45125800	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr1:45117000-45125600	Weak transcription	Rectal Smooth Muscle	rectum
18	chr1:45117200-45125000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr1:45117200-45125800	Weak transcription	Fetal Lung	lung
20	chr1:45117200-45127600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr1:45117200-45130200	Weak transcription	Primary B cells from cord blood	blood
22	chr1:45117200-45137800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr1:45117200-45138600	Weak transcription	Aorta	Aorta
24	chr1:45117400-45125800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr1:45117400-45125800	Weak transcription	HSMMtube	muscle
26	chr1:45117400-45129200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr1:45117400-45130200	Weak transcription	Primary B cells from peripheral blood	blood
28	chr1:45117400-45130200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
29	chr1:45117400-45130200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
30	chr1:45117400-45138000	Weak transcription	Left Ventricle	heart
31	chr1:45117600-45130200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr1:45117800-45125200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr1:45117800-45125600	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr1:45117800-45126000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr1:45117800-45128000	Weak transcription	Colonic Mucosa	Colon
36	chr1:45118000-45124600	Weak transcription	Primary monocytes fromperipheralblood	blood
37	chr1:45118200-45130200	Weak transcription	Primary neutrophils fromperipheralblood	blood
38	chr1:45118400-45127600	Weak transcription	Thymus	Thymus
39	chr1:45118400-45129400	Weak transcription	Primary T helper cells fromperipheralblood	blood
40	chr1:45118400-45130000	Weak transcription	GM12878-XiMat	blood
41	chr1:45118400-45130200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
42	chr1:45118600-45124400	Weak transcription	Rectal Mucosa Donor 29	rectum
43	chr1:45118600-45125800	Strong transcription	Fetal Intestine Small	intestine
44	chr1:45118600-45126000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr1:45118600-45138600	Weak transcription	Colon Smooth Muscle	Colon
46	chr1:45119000-45124200	Strong transcription	Liver	Liver
47	chr1:45119000-45128800	Weak transcription	Placenta Amnion	Placenta Amnion
48	chr1:45119200-45126800	Weak transcription	Primary hematopoietic stem cells	blood
49	chr1:45119200-45139200	Weak transcription	H1 Cell Line	embryonic stem cell
50	chr1:45119400-45126000	Weak transcription	HUES6 Cell Line	embryonic stem cell

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