Variant report

Variant	rs9607272
Chromosome Location	chr22:22136398-22136399
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:22134933..22136529-chr22:22139947..22142320,2	K562	blood:

Extended variants
information (count: 38 )
Associated
traits (count: 10 )

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs11490038	0.96[ASN][1000 genomes]
rs2070505	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2876981	0.91[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs28803281	0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3810606	1.00[CEU][hapmap];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3810608	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61763392	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62235142	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62235144	0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62235145	0.91[ASN][1000 genomes]
rs62235148	0.91[ASN][1000 genomes]
rs62235149	0.91[ASN][1000 genomes]
rs6518951	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7292584	0.91[ASN][1000 genomes]
rs9610216	1.00[CHB][hapmap];1.00[CHD][hapmap];0.85[JPT][hapmap];0.89[TSI][hapmap];0.89[ASN][1000 genomes]
rs9610271	0.91[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs9610386	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9610417	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9610470	0.93[ASN][1000 genomes]
rs9610487	0.91[ASW][hapmap];0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.81[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs9610496	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9610504	0.86[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	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
7	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
8	nsv1066964	chr22:22055123-22228745	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
9	nsv544604	chr22:22055123-22228745	Strong transcription Genic enhancers Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
10	nsv588322	chr22:22086373-22186479	Weak transcription Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
11	nsv948580	chr22:22100718-22839559	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Genic 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 target site	97 gene(s)	inside rSNPs	diseases
12	esv1795495	chr22:22131125-22204916	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
13	nsv914470	chr22:22131125-22272737	Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
14	nsv1059265	chr22:22131125-22457154	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
15	esv3379268	chr22:22135347-22446281	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
16	esv3385441	chr22:22135777-22320294	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases

mRNA abundance (count:10)

SNP	Gene	Cis/trans	Tissue	Source
rs9607272	TOP3B	cis	parietal	SCAN
rs9607272	TOP3B	cis	cerebellum	SCAN
rs9607272	PPM1F	cis	cerebellum	SCAN
rs9607272	DGCR6	cis	cerebellum	SCAN
rs9607272	MMP11	cis	parietal	SCAN
rs9607272	KLHL22	cis	cerebellum	SCAN
rs9607272	DERL3	cis	cerebellum	SCAN
rs9607272	TOP3BP1	cis	Muscle Skeletal	GTEx
rs9607272	SLC7A4	cis	parietal	SCAN
rs9607272	POM121L4P	cis	parietal	SCAN

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:22110600-22150600	Weak transcription	Fetal Heart	heart
2	chr22:22112400-22136800	Strong transcription	Dnd41	blood
3	chr22:22113400-22163800	Weak transcription	Right Atrium	heart
4	chr22:22114200-22172800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr22:22121600-22171400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr22:22123200-22162200	Strong transcription	Fetal Thymus	thymus
7	chr22:22127000-22139200	Weak transcription	Stomach Mucosa	stomach
8	chr22:22127200-22138400	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr22:22127200-22141000	Weak transcription	Aorta	Aorta
10	chr22:22127200-22142400	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr22:22127200-22145200	Weak transcription	Small Intestine	intestine
12	chr22:22127200-22146000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr22:22127200-22167600	Weak transcription	Psoas Muscle	Psoas
14	chr22:22127200-22170600	Weak transcription	Hela-S3	cervix
15	chr22:22127400-22137200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr22:22127400-22137800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr22:22127400-22138800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
18	chr22:22127400-22139000	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr22:22127400-22141600	Weak transcription	Colonic Mucosa	Colon
20	chr22:22127400-22145800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
21	chr22:22127400-22146000	Weak transcription	A549	lung
22	chr22:22127600-22136400	Weak transcription	Esophagus	oesophagus
23	chr22:22128600-22138800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr22:22128600-22139000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr22:22129000-22162200	Strong transcription	Monocytes-CD14+_RO01746	blood
26	chr22:22129600-22151200	Weak transcription	Colon Smooth Muscle	Colon
27	chr22:22129800-22139000	Weak transcription	Fetal Kidney	kidney
28	chr22:22129800-22142400	Weak transcription	Rectal Smooth Muscle	rectum
29	chr22:22129800-22152000	Weak transcription	Brain Germinal Matrix	brain
30	chr22:22130000-22139200	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr22:22130000-22150600	Weak transcription	Ovary	ovary
32	chr22:22130000-22150800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr22:22130200-22138800	Strong transcription	Primary neutrophils fromperipheralblood	blood
34	chr22:22130400-22147000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr22:22130600-22143600	Strong transcription	Primary T helper cells fromperipheralblood	blood
36	chr22:22131200-22139200	Weak transcription	Primary hematopoietic stem cells	blood
37	chr22:22131400-22150600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr22:22131600-22139000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr22:22131800-22139000	Weak transcription	HMEC	breast
40	chr22:22132000-22152000	Weak transcription	Right Ventricle	heart
41	chr22:22132200-22137200	Weak transcription	Fetal Lung	lung
42	chr22:22132200-22138800	Weak transcription	Stomach Smooth Muscle	stomach
43	chr22:22133200-22137800	Weak transcription	Fetal Brain Female	brain
44	chr22:22133400-22156000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
45	chr22:22133600-22139000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
46	chr22:22133800-22139000	Weak transcription	HUVEC	blood vessel
47	chr22:22133800-22141000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr22:22134200-22136400	Weak transcription	HSMM	muscle
49	chr22:22134200-22136400	Weak transcription	NH-A	brain
50	chr22:22134200-22139000	Weak transcription	Primary T killer memory cells from peripheral blood	blood

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