Variant report

Variant	rs9610294
Chromosome Location	chr22:22128935-22128936
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:22127790..22129989-chr22:22156925..22159029,2	K562	blood:
2	chr22:22127086..22129647-chr22:22272153..22274882,2	K562	blood:
3	chr22:22128803..22129714-chr22:22292654..22293508,2	K562	blood:
4	chr22:22128103..22132629-chr22:22289657..22294176,6	K562	blood:
5	chr22:22128885..22129564-chr22:22292386..22293174,2	MCF-7	breast:
6	chr22:22128700..22129747-chr22:22292035..22293557,11	MCF-7	breast:
7	chr22:22066867..22068132-chr22:22128746..22129659,4	K562	blood:

Variant related genes	Relation type
ENSG00000224086	Chromatin interaction
ENSG00000100034	Chromatin interaction

Extended variants
information (count: 46 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1063311	0.90[ASN][1000 genomes]
rs11912377	0.81[ASN][1000 genomes]
rs11913721	0.81[ASN][1000 genomes]
rs2266965	0.81[ASN][1000 genomes]
rs2266966	0.92[ASN][1000 genomes]
rs2266969	0.83[ASN][1000 genomes]
rs2283791	0.93[ASN][1000 genomes]
rs2283793	0.81[ASN][1000 genomes]
rs28720995	0.93[ASN][1000 genomes]
rs3810606	0.84[EUR][1000 genomes]
rs3810608	0.84[EUR][1000 genomes]
rs4640486	0.83[ASN][1000 genomes]
rs56036797	0.81[ASN][1000 genomes]
rs56227348	0.84[ASN][1000 genomes]
rs56398890	0.81[ASN][1000 genomes]
rs5999752	0.81[ASN][1000 genomes]
rs62235132	0.95[ASN][1000 genomes]
rs6518951	0.84[EUR][1000 genomes]
rs6518968	0.84[ASN][1000 genomes]
rs7290469	0.85[ASN][1000 genomes]
rs8138075	0.90[ASN][1000 genomes]
rs8139376	0.90[ASN][1000 genomes]
rs9607241	0.88[ASN][1000 genomes]
rs9607285	0.85[ASN][1000 genomes]
rs9607298	0.81[ASN][1000 genomes]
rs9610314	0.94[ASN][1000 genomes]
rs9610315	0.82[ASN][1000 genomes]
rs9610328	0.81[ASN][1000 genomes]
rs9610338	0.84[ASN][1000 genomes]
rs9610374	0.81[ASN][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	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
2	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
3	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
4	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
5	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
6	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
7	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
8	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
9	nsv510804	chr22:22024531-22132764	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
10	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
11	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
12	nsv1063134	chr22:22067645-22129322	Bivalent Enhancer Weak transcription Enhancers ZNF genes & repeats Genic enhancers Strong transcription Active TSS Flanking 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 target site	18 gene(s)	inside rSNPs	diseases
13	nsv544605	chr22:22067645-22129322	Genic enhancers Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
14	esv3423141	chr22:22074283-22135439	Strong transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats 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	16 gene(s)	inside rSNPs	diseases
15	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
16	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

No data

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	chr22:22111200-22129200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr22:22112400-22136800	Strong transcription	Dnd41	blood
4	chr22:22113400-22163800	Weak transcription	Right Atrium	heart
5	chr22:22113600-22133200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr22:22114200-22172800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr22:22116000-22132800	Strong transcription	K562	blood
8	chr22:22116600-22129000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr22:22116600-22129400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr22:22117800-22129800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr22:22118800-22133400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr22:22121600-22171400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr22:22122200-22132200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr22:22123200-22133600	Strong transcription	Thymus	Thymus
15	chr22:22123200-22162200	Strong transcription	Fetal Thymus	thymus
16	chr22:22126800-22129400	Strong transcription	Fetal Muscle Leg	muscle
17	chr22:22127000-22130800	Weak transcription	HMEC	breast
18	chr22:22127000-22139200	Weak transcription	Stomach Mucosa	stomach
19	chr22:22127200-22129200	Weak transcription	Brain Anterior Caudate	brain
20	chr22:22127200-22129200	Weak transcription	Colon Smooth Muscle	Colon
21	chr22:22127200-22129400	Weak transcription	Rectal Smooth Muscle	rectum
22	chr22:22127200-22129400	Weak transcription	Right Ventricle	heart
23	chr22:22127200-22130400	Weak transcription	Lung	lung
24	chr22:22127200-22130800	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr22:22127200-22133000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
26	chr22:22127200-22134600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
27	chr22:22127200-22136200	Weak transcription	Pancreas	Pancrea
28	chr22:22127200-22138400	Weak transcription	Placenta Amnion	Placenta Amnion
29	chr22:22127200-22141000	Weak transcription	Aorta	Aorta
30	chr22:22127200-22142400	Weak transcription	Pancreatic Islets	Pancreatic Islet
31	chr22:22127200-22145200	Weak transcription	Small Intestine	intestine
32	chr22:22127200-22146000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr22:22127200-22167600	Weak transcription	Psoas Muscle	Psoas
34	chr22:22127200-22170600	Weak transcription	Hela-S3	cervix
35	chr22:22127400-22129000	Weak transcription	Brain Inferior Temporal Lobe	brain
36	chr22:22127400-22129200	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr22:22127400-22129200	Weak transcription	Brain Germinal Matrix	brain
38	chr22:22127400-22129200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr22:22127400-22129200	Weak transcription	Skeletal Muscle Male	skeletal muscle
40	chr22:22127400-22129400	Weak transcription	Fetal Brain Female	brain
41	chr22:22127400-22129600	Weak transcription	Skeletal Muscle Female	skeletal muscle
42	chr22:22127400-22130400	Weak transcription	Primary hematopoietic stem cells	blood
43	chr22:22127400-22130400	Weak transcription	NHLF	lung
44	chr22:22127400-22130600	Weak transcription	Primary T helper cells fromperipheralblood	blood
45	chr22:22127400-22130600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr22:22127400-22130800	Weak transcription	HUES48 Cell Line	embryonic stem cell
47	chr22:22127400-22130800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr22:22127400-22130800	Weak transcription	Liver	Liver
49	chr22:22127400-22130800	Weak transcription	Duodenum Mucosa	Duodenum
50	chr22:22127400-22130800	Weak transcription	Fetal Lung	lung

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