Variant report

Variant	rs61763401
Chromosome Location	chr22:22139847-22139848
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:22139542..22142043-chr22:22149818..22151655,3	K562	blood:
2	chr22:22138386..22141993-chr22:22291154..22293931,3	K562	blood:
3	chr22:22139114..22142143-chr22:22291439..22293931,3	K562	blood:
4	chr22:22138960..22144102-chr22:22144219..22147796,13	K562	blood:
5	chr22:22139792..22142043-chr22:22150140..22151655,2	K562	blood:
6	chr22:22052949..22055555-chr22:22138191..22140675,2	K562	blood:
7	chr22:22139546..22142407-chr22:22162132..22163873,3	K562	blood:

Variant related genes	Relation type
ENSG00000200985	Chromatin interaction
ENSG00000224086	Chromatin interaction
ENSG00000100034	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs17759598	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17759796	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs17821500	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2876980	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs5999842	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs61757982	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs61763381	0.86[AMR][1000 genomes]
rs61763388	0.86[AMR][1000 genomes]
rs8136405	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs8142650	0.84[AMR][1000 genomes];0.88[EUR][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

No data

Chromatin state (count:127 , 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	chr22:22113400-22163800	Weak transcription	Right Atrium	heart
3	chr22:22114200-22172800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr22:22121600-22171400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr22:22123200-22162200	Strong transcription	Fetal Thymus	thymus
6	chr22:22127200-22141000	Weak transcription	Aorta	Aorta
7	chr22:22127200-22142400	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr22:22127200-22145200	Weak transcription	Small Intestine	intestine
9	chr22:22127200-22146000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr22:22127200-22167600	Weak transcription	Psoas Muscle	Psoas
11	chr22:22127200-22170600	Weak transcription	Hela-S3	cervix
12	chr22:22127400-22141600	Weak transcription	Colonic Mucosa	Colon
13	chr22:22127400-22145800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr22:22127400-22146000	Weak transcription	A549	lung
15	chr22:22129000-22162200	Strong transcription	Monocytes-CD14+_RO01746	blood
16	chr22:22129600-22151200	Weak transcription	Colon Smooth Muscle	Colon
17	chr22:22129800-22142400	Weak transcription	Rectal Smooth Muscle	rectum
18	chr22:22129800-22152000	Weak transcription	Brain Germinal Matrix	brain
19	chr22:22130000-22150600	Weak transcription	Ovary	ovary
20	chr22:22130000-22150800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr22:22130400-22147000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr22:22130600-22143600	Strong transcription	Primary T helper cells fromperipheralblood	blood
23	chr22:22131400-22150600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr22:22132000-22152000	Weak transcription	Right Ventricle	heart
25	chr22:22133400-22156000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
26	chr22:22133800-22141000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr22:22134200-22162200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr22:22134400-22140000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr22:22134400-22142400	Strong transcription	Fetal Stomach	stomach
30	chr22:22134600-22151200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr22:22135000-22142400	Weak transcription	Brain Cingulate Gyrus	brain
32	chr22:22135000-22146400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr22:22135200-22141400	Weak transcription	Brain Substantia Nigra	brain
34	chr22:22135200-22152400	Strong transcription	Fetal Muscle Trunk	muscle
35	chr22:22135200-22162200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr22:22135800-22162400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr22:22135800-22162600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr22:22135800-22162600	Strong transcription	Primary monocytes fromperipheralblood	blood
39	chr22:22136000-22140000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr22:22136000-22140000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr22:22136000-22140000	Strong transcription	Fetal Muscle Leg	muscle
42	chr22:22136000-22143200	Strong transcription	Adipose Nuclei	Adipose
43	chr22:22136000-22143200	Strong transcription	Rectal Mucosa Donor 29	rectum
44	chr22:22136000-22162400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
45	chr22:22136200-22143200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr22:22136200-22143400	Strong transcription	HUES64 Cell Line	embryonic stem cell
47	chr22:22136200-22143800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
48	chr22:22136200-22161800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr22:22136400-22141600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
50	chr22:22136600-22141400	Weak transcription	HepG2	liver

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