Variant report

Variant	rs447001
Chromosome Location	chr22:22010918-22010919
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr22:22009908..22011578-chr22:22291965..22294169,2	K562	blood:
2	chr22:21976812..21979275-chr22:22008557..22011391,2	MCF-7	breast:
3	chr22:21992086..21994401-chr22:22010428..22012823,2	MCF-7	breast:
4	chr22:21982609..21984758-chr22:22010076..22013251,4	MCF-7	breast:
5	chr22:22009862..22011858-chr22:22305848..22308013,2	K562	blood:
6	chr22:21982705..21984645-chr22:22010803..22012365,2	MCF-7	breast:
7	chr22:22000176..22001700-chr22:22010564..22012742,9	K562	blood:
8	chr22:22009565..22013226-chr22:22291661..22294169,4	K562	blood:
9	chr22:22008392..22011858-chr22:22305848..22308742,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000224086	Chromatin interaction
ENSG00000100034	Chromatin interaction
ENSG00000161179	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs1210397	0.93[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1210407	0.80[ASN][1000 genomes]
rs35445502	0.82[ASN][1000 genomes]
rs368351	0.80[ASN][1000 genomes]
rs372150	0.81[ASN][1000 genomes]
rs373001	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs374659	0.87[JPT][hapmap];0.81[ASN][1000 genomes]
rs381713	0.87[JPT][hapmap]
rs384262	0.90[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs388113	0.87[JPT][hapmap]
rs388371	0.83[JPT][hapmap]
rs390720	0.80[ASN][1000 genomes]
rs391324	0.82[ASN][1000 genomes]
rs394073	0.87[JPT][hapmap];0.82[ASN][1000 genomes]
rs395006	0.87[JPT][hapmap];0.80[ASN][1000 genomes]
rs402548	0.80[ASN][1000 genomes]
rs403865	0.80[ASN][1000 genomes]
rs409796	0.81[ASN][1000 genomes]
rs412596	0.87[JPT][hapmap]
rs416661	0.81[JPT][hapmap]
rs428595	0.87[JPT][hapmap];0.82[ASN][1000 genomes]
rs429623	0.80[ASN][1000 genomes]
rs433704	0.90[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs439760	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs443845	0.81[ASN][1000 genomes]
rs446142	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs449597	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs450469	0.85[CEU][hapmap];0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs452649	0.81[JPT][hapmap]
rs5754727	0.92[CEU][hapmap];0.93[TSI][hapmap]

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv914458	chr22:21747678-22070489	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	387 gene(s)	inside rSNPs	diseases
2	nsv482690	chr22:21807513-22016791	Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	374 gene(s)	inside rSNPs	diseases
3	esv1823866	chr22:21928916-22131125	Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Weak transcription Genic enhancers Enhancers Bivalent Enhancer 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	374 gene(s)	inside rSNPs	diseases
4	nsv948603	chr22:21928916-22601814	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	422 gene(s)	inside rSNPs	diseases
5	nsv948902	chr22:21928916-22657900	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	426 gene(s)	inside rSNPs	diseases
6	nsv1063962	chr22:21939722-22934593	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	477 gene(s)	inside rSNPs	diseases
7	nsv1058617	chr22:21939922-22934454	Weak transcription Bivalent Enhancer Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS 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	477 gene(s)	inside rSNPs	diseases
8	nsv529694	chr22:21957411-22905068	Enhancers Genic enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	474 gene(s)	inside rSNPs	diseases
9	nsv914464	chr22:21964761-22039863	Genic enhancers Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	367 gene(s)	inside rSNPs	diseases
10	nsv914465	chr22:21964761-22055280	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	368 gene(s)	inside rSNPs	diseases
11	nsv914466	chr22:21964761-22057273	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	368 gene(s)	inside rSNPs	diseases
12	nsv531797	chr22:21977700-22959729	Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	476 gene(s)	inside rSNPs	diseases
13	nsv914467	chr22:21982892-22055280	Strong transcription Genic enhancers Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	363 gene(s)	inside rSNPs	diseases
14	nsv914468	chr22:21982892-22070489	Flanking Bivalent TSS/Enh Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	365 gene(s)	inside rSNPs	diseases
15	nsv914469	chr22:21985094-22010918	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	348 gene(s)	inside rSNPs	diseases
16	esv3456722	chr22:21993383-22019246	Enhancers Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	341 gene(s)	inside rSNPs	diseases
17	esv3456723	chr22:21993399-22019258	Flanking Active TSS Active TSS Bivalent/Poised TSS Enhancers Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	341 gene(s)	inside rSNPs	diseases
18	nsv1066403	chr22:22010822-22352262	Genic enhancers Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs447001	OR10H5	trans	parietal	SCAN
rs447001	DERL3	cis	cerebellum	SCAN
rs447001	RTDR1	cis	parietal	SCAN

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:22006800-22011600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr22:22006800-22012000	Weak transcription	Liver	Liver
3	chr22:22007000-22011000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr22:22007000-22011000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr22:22007000-22011000	Weak transcription	Brain Anterior Caudate	brain
6	chr22:22007000-22011200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr22:22007000-22011400	Weak transcription	Gastric	stomach
8	chr22:22007200-22011000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr22:22007200-22011000	Weak transcription	Primary B cells from peripheral blood	blood
10	chr22:22007200-22011000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
11	chr22:22007200-22011000	Weak transcription	Esophagus	oesophagus
12	chr22:22007200-22011000	Weak transcription	Pancreas	Pancrea
13	chr22:22007200-22011000	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr22:22007200-22011200	Enhancers	Placenta	Placenta
15	chr22:22007200-22011200	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr22:22007200-22011400	Weak transcription	Primary B cells from cord blood	blood
17	chr22:22007200-22011400	Weak transcription	Right Ventricle	heart
18	chr22:22007400-22011000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr22:22007400-22011000	Weak transcription	Primary hematopoietic stem cells	blood
20	chr22:22007400-22011000	Weak transcription	Duodenum Mucosa	Duodenum
21	chr22:22007400-22011000	Weak transcription	Spleen	Spleen
22	chr22:22007400-22011000	Weak transcription	Monocytes-CD14+_RO01746	blood
23	chr22:22007400-22011200	Weak transcription	A549	lung
24	chr22:22007400-22011200	Weak transcription	HSMMtube	muscle
25	chr22:22007400-22011200	Weak transcription	NHEK	skin
26	chr22:22007400-22011400	Weak transcription	Colonic Mucosa	Colon
27	chr22:22007600-22011000	Weak transcription	Placenta Amnion	Placenta Amnion
28	chr22:22007600-22011200	Weak transcription	Fetal Intestine Large	intestine
29	chr22:22007600-22011400	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr22:22007600-22011400	Weak transcription	Lung	lung
31	chr22:22007600-22019800	Weak transcription	Fetal Heart	heart
32	chr22:22007800-22011000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr22:22007800-22011200	Weak transcription	Fetal Kidney	kidney
34	chr22:22007800-22011200	Weak transcription	Right Atrium	heart
35	chr22:22007800-22011200	Weak transcription	NH-A	brain
36	chr22:22008000-22011600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr22:22008200-22011200	Weak transcription	Fetal Brain Male	brain
38	chr22:22008400-22012000	Weak transcription	NHDF-Ad	bronchial
39	chr22:22008600-22011400	Weak transcription	Osteobl	bone
40	chr22:22008800-22011000	Weak transcription	H9 Cell Line	embryonic stem cell
41	chr22:22008800-22011000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr22:22008800-22011000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr22:22008800-22011000	Weak transcription	GM12878-XiMat	blood
44	chr22:22008800-22011400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr22:22008800-22011400	Weak transcription	Thymus	Thymus
46	chr22:22008800-22011400	Weak transcription	HMEC	breast
47	chr22:22008800-22011600	Weak transcription	HSMM	muscle
48	chr22:22008800-22011600	Weak transcription	NHLF	lung
49	chr22:22009000-22011000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr22:22009000-22011000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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