Variant report

Variant	rs17210001
Chromosome Location	chr22:19914854-19914855
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10483103	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs12483995	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs165879	0.82[AMR][1000 genomes]
rs174673	1.00[ASW][hapmap];1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];0.94[JPT][hapmap];0.95[MEX][hapmap];0.84[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs174683	0.84[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs174684	0.84[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs174685	0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs174686	0.83[AMR][1000 genomes]
rs174689	0.84[AMR][1000 genomes]
rs2871046	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs2871047	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs3788310	1.00[ASW][hapmap]

Variant overlapped rSNPs/rCNVs (count:23 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1792516	chr22:19578312-20314496	Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	195 gene(s)	inside rSNPs	diseases
2	nsv914279	chr22:19638044-19954458	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	56 gene(s)	inside rSNPs	diseases
3	esv1818018	chr22:19674772-20313261	Flanking Bivalent TSS/Enh Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	193 gene(s)	inside rSNPs	diseases
4	nsv828938	chr22:19678592-20311988	Strong transcription Genic enhancers Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	192 gene(s)	inside rSNPs	diseases
5	nsv828939	chr22:19683555-20311988	Active TSS Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	192 gene(s)	inside rSNPs	diseases
6	nsv1064992	chr22:19691720-20246906	Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	184 gene(s)	inside rSNPs	diseases
7	nsv914288	chr22:19698129-19914854	Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
8	esv1826873	chr22:19726464-20313261	Transcr. at gene 5' and 3' Weak transcription Genic enhancers Active TSS ZNF genes & repeats Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	179 gene(s)	inside rSNPs	diseases
9	nsv588237	chr22:19749525-20306993	Weak transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	176 gene(s)	inside rSNPs	diseases
10	nsv482455	chr22:19758291-19932709	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
11	nsv914296	chr22:19766782-19921003	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
12	nsv1065963	chr22:19779317-20027562	Strong transcription Genic enhancers Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	137 gene(s)	inside rSNPs	diseases
13	nsv544580	chr22:19779317-20027562	Genic enhancers Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	137 gene(s)	inside rSNPs	diseases
14	nsv834130	chr22:19825446-19928090	Weak transcription Genic enhancers ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
15	nsv949462	chr22:19840196-20214783	Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer Weak transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	163 gene(s)	inside rSNPs	diseases
16	nsv1065367	chr22:19856610-20127323	Weak transcription Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	137 gene(s)	inside rSNPs	diseases
17	nsv469641	chr22:19879185-20055258	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	123 gene(s)	inside rSNPs	diseases
18	nsv482484	chr22:19879185-20055258	Weak transcription Active TSS Genic enhancers Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	123 gene(s)	inside rSNPs	diseases
19	nsv834131	chr22:19879186-20055258	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	123 gene(s)	inside rSNPs	diseases
20	nsv834132	chr22:19887966-20069970	Weak transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	127 gene(s)	inside rSNPs	diseases
21	nsv588238	chr22:19898886-19937638	Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
22	nsv914306	chr22:19900075-19983014	Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
23	nsv588239	chr22:19907099-20309393	Strong transcription Active TSS Genic enhancers Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	158 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs17210001	NDOR1	trans	brain	seeQTL
rs17210001	TXNRD2,KIAA1652	cis	brain	BrainEAC
rs17210001	ZNF74	cis	brain	BrainEAC

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:19871000-19927600	Weak transcription	Hela-S3	cervix
2	chr22:19897600-19923200	Weak transcription	NHDF-Ad	bronchial
3	chr22:19900400-19919800	Weak transcription	Right Atrium	heart
4	chr22:19901400-19928200	Weak transcription	Small Intestine	intestine
5	chr22:19902000-19928000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr22:19902200-19920600	Weak transcription	Fetal Heart	heart
7	chr22:19902400-19928000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr22:19902600-19928000	Weak transcription	Fetal Brain Male	brain
9	chr22:19903800-19920000	Weak transcription	Stomach Mucosa	stomach
10	chr22:19904000-19928200	Weak transcription	Fetal Lung	lung
11	chr22:19904200-19915800	Weak transcription	HSMM	muscle
12	chr22:19906000-19927800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
13	chr22:19906200-19927800	Weak transcription	Colon Smooth Muscle	Colon
14	chr22:19906200-19928000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr22:19906200-19928000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr22:19906200-19928200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr22:19906400-19917600	Weak transcription	Primary T helper cells PMA-I stimulated	--
18	chr22:19906400-19919800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr22:19906400-19922800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr22:19906400-19928000	Weak transcription	Colonic Mucosa	Colon
21	chr22:19906400-19928000	Weak transcription	Rectal Mucosa Donor 29	rectum
22	chr22:19906400-19928000	Weak transcription	HSMMtube	muscle
23	chr22:19906400-19928000	Weak transcription	Osteobl	bone
24	chr22:19906400-19928200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr22:19906400-19928200	Weak transcription	Placenta Amnion	Placenta Amnion
26	chr22:19906400-19928200	Weak transcription	Rectal Smooth Muscle	rectum
27	chr22:19906600-19917000	Weak transcription	Ovary	ovary
28	chr22:19906600-19917000	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr22:19906600-19917200	Weak transcription	Left Ventricle	heart
30	chr22:19906600-19919800	Weak transcription	Brain Anterior Caudate	brain
31	chr22:19906600-19920400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr22:19906600-19920400	Weak transcription	Brain Inferior Temporal Lobe	brain
33	chr22:19906600-19921600	Weak transcription	Fetal Thymus	thymus
34	chr22:19906600-19922800	Weak transcription	Brain Germinal Matrix	brain
35	chr22:19906600-19923200	Weak transcription	Cortex derived primary cultured neurospheres	brain
36	chr22:19906600-19923200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr22:19906600-19923200	Weak transcription	HUVEC	blood vessel
38	chr22:19906600-19924600	Weak transcription	HepG2	liver
39	chr22:19906600-19927800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
40	chr22:19906600-19927800	Weak transcription	Brain Angular Gyrus	brain
41	chr22:19906600-19928000	Weak transcription	Duodenum Smooth Muscle	Duodenum
42	chr22:19906600-19928200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
43	chr22:19906600-19928200	Weak transcription	Rectal Mucosa Donor 31	rectum
44	chr22:19906800-19917400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr22:19906800-19917400	Weak transcription	Gastric	stomach
46	chr22:19906800-19917600	Weak transcription	Aorta	Aorta
47	chr22:19906800-19928200	Weak transcription	Sigmoid Colon	Sigmoid Colon
48	chr22:19907000-19916600	Weak transcription	Primary B cells from peripheral blood	blood
49	chr22:19907000-19919800	Weak transcription	Skeletal Muscle Female	skeletal muscle
50	chr22:19907000-19920200	Weak transcription	Brain Substantia Nigra	brain

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