Variant report

Variant	rs57972001
Chromosome Location	chr22:22136100-22136101
allele	A/G
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:
2	chr22:22134116..22136199-chr22:22168473..22171209,2	K562	blood:

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs11912710	1.00[AFR][1000 genomes]
rs11913453	0.91[AFR][1000 genomes]
rs11914029	1.00[AFR][1000 genomes]
rs17759568	0.91[AFR][1000 genomes]
rs2276008	0.91[AFR][1000 genomes]
rs34431893	0.91[AFR][1000 genomes]
rs55671725	0.84[AFR][1000 genomes]
rs55899028	0.91[AFR][1000 genomes]
rs56070517	0.91[AFR][1000 genomes]
rs57917247	0.91[AFR][1000 genomes]
rs58437134	1.00[AFR][1000 genomes]
rs58549474	0.91[AFR][1000 genomes]
rs59520604	1.00[AFR][1000 genomes]
rs60997543	0.84[AFR][1000 genomes]
rs61348040	0.91[AFR][1000 genomes]
rs61757984	0.91[AFR][1000 genomes]
rs66471117	0.91[AFR][1000 genomes]
rs66805823	0.84[AFR][1000 genomes]
rs73382365	0.91[AFR][1000 genomes]
rs73384128	0.91[AFR][1000 genomes]
rs73386248	1.00[AFR][1000 genomes]
rs73386249	1.00[AFR][1000 genomes]
rs73386266	0.82[AFR][1000 genomes]
rs73386270	0.82[AFR][1000 genomes]
rs73386291	0.82[AFR][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: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	chr22:22127200-22136200	Weak transcription	Pancreas	Pancrea
9	chr22:22127200-22138400	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr22:22127200-22141000	Weak transcription	Aorta	Aorta
11	chr22:22127200-22142400	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr22:22127200-22145200	Weak transcription	Small Intestine	intestine
13	chr22:22127200-22146000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr22:22127200-22167600	Weak transcription	Psoas Muscle	Psoas
15	chr22:22127200-22170600	Weak transcription	Hela-S3	cervix
16	chr22:22127400-22137200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr22:22127400-22137800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr22:22127400-22138800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
19	chr22:22127400-22139000	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr22:22127400-22141600	Weak transcription	Colonic Mucosa	Colon
21	chr22:22127400-22145800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
22	chr22:22127400-22146000	Weak transcription	A549	lung
23	chr22:22127600-22136400	Weak transcription	Esophagus	oesophagus
24	chr22:22128600-22138800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr22:22128600-22139000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr22:22129000-22162200	Strong transcription	Monocytes-CD14+_RO01746	blood
27	chr22:22129600-22151200	Weak transcription	Colon Smooth Muscle	Colon
28	chr22:22129800-22136200	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr22:22129800-22139000	Weak transcription	Fetal Kidney	kidney
30	chr22:22129800-22142400	Weak transcription	Rectal Smooth Muscle	rectum
31	chr22:22129800-22152000	Weak transcription	Brain Germinal Matrix	brain
32	chr22:22130000-22139200	Weak transcription	Skeletal Muscle Female	skeletal muscle
33	chr22:22130000-22150600	Weak transcription	Ovary	ovary
34	chr22:22130000-22150800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr22:22130200-22138800	Strong transcription	Primary neutrophils fromperipheralblood	blood
36	chr22:22130400-22147000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr22:22130600-22143600	Strong transcription	Primary T helper cells fromperipheralblood	blood
38	chr22:22131200-22139200	Weak transcription	Primary hematopoietic stem cells	blood
39	chr22:22131400-22150600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr22:22131600-22139000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr22:22131800-22136200	Weak transcription	Liver	Liver
42	chr22:22131800-22139000	Weak transcription	HMEC	breast
43	chr22:22132000-22152000	Weak transcription	Right Ventricle	heart
44	chr22:22132200-22137200	Weak transcription	Fetal Lung	lung
45	chr22:22132200-22138800	Weak transcription	Stomach Smooth Muscle	stomach
46	chr22:22133200-22137800	Weak transcription	Fetal Brain Female	brain
47	chr22:22133400-22136200	Weak transcription	HUES6 Cell Line	embryonic stem cell
48	chr22:22133400-22136200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
49	chr22:22133400-22136200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr22:22133400-22136200	Weak transcription	Spleen	Spleen

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