Variant report

Variant	rs58549474
Chromosome Location	chr22:22193596-22193597
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	chr22:22151815..22154124-chr22:22193537..22196414,2	K562	blood:

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs11912710	0.91[AFR][1000 genomes]
rs11913063	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11913120	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11913453	0.84[AFR][1000 genomes]
rs11914029	0.91[AFR][1000 genomes]
rs17759568	0.84[AFR][1000 genomes]
rs17821572	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2276008	0.84[AFR][1000 genomes]
rs34431893	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs35248177	0.86[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs35585950	1.00[ASN][1000 genomes]
rs55899028	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56070517	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs56405293	0.90[ASN][1000 genomes]
rs57917247	0.83[AFR][1000 genomes]
rs57972001	0.91[AFR][1000 genomes]
rs58212445	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs58437134	0.91[AFR][1000 genomes]
rs59520604	0.91[AFR][1000 genomes]
rs59903539	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61348040	0.84[AFR][1000 genomes]
rs61422770	0.82[ASN][1000 genomes]
rs61757984	0.84[AFR][1000 genomes]
rs66471117	0.84[AFR][1000 genomes]
rs73149943	0.82[ASN][1000 genomes]
rs73149944	0.82[ASN][1000 genomes]
rs73149949	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73382365	0.84[AFR][1000 genomes]
rs73384128	0.84[AFR][1000 genomes]
rs73386248	0.91[AFR][1000 genomes]
rs73386249	0.91[AFR][1000 genomes]
rs8141815	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:24 , 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	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
11	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
12	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
13	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
14	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
15	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
16	esv2752404	chr22:22141825-22570417	Enhancers Genic enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
17	esv2422277	chr22:22144108-22442159	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
18	esv2422295	chr22:22144108-22442159	Bivalent/Poised TSS Flanking Active TSS Genic enhancers Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
19	esv2422374	chr22:22152248-22595246	Weak transcription Enhancers Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
20	esv2422403	chr22:22152248-23112582	Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	145 gene(s)	inside rSNPs	diseases
21	nsv1062641	chr22:22157661-22367697	Strong transcription Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
22	esv2422390	chr22:22157964-23112582	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	145 gene(s)	inside rSNPs	diseases
23	nsv914471	chr22:22165557-22272737	Active TSS Genic enhancers Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
24	esv2763701	chr22:22173533-22573987	Weak transcription Bivalent Enhancer Genic enhancers Enhancers Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:22182600-22210400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr22:22185400-22200400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
3	chr22:22187000-22195000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
4	chr22:22187200-22198200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr22:22187200-22198400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
6	chr22:22187200-22200200	Weak transcription	Spleen	Spleen
7	chr22:22187800-22211000	Weak transcription	Dnd41	blood
8	chr22:22189200-22196000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr22:22189600-22197400	Weak transcription	Esophagus	oesophagus
10	chr22:22189600-22198600	Weak transcription	Thymus	Thymus
11	chr22:22189600-22200600	Weak transcription	Ovary	ovary
12	chr22:22190000-22197600	Weak transcription	Lung	lung
13	chr22:22190000-22201200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr22:22190200-22197200	Weak transcription	Primary T cells from cord blood	blood
15	chr22:22190400-22200600	Weak transcription	Brain Germinal Matrix	brain
16	chr22:22191000-22197400	Weak transcription	Primary B cells from cord blood	blood
17	chr22:22191200-22193600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr22:22191800-22193600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr22:22192000-22197200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
20	chr22:22192000-22197600	Weak transcription	Primary neutrophils fromperipheralblood	blood
21	chr22:22192000-22198000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
22	chr22:22192200-22193600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr22:22192200-22193600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr22:22192200-22193600	Weak transcription	Gastric	stomach
25	chr22:22192200-22193800	Enhancers	Cortex derived primary cultured neurospheres	brain
26	chr22:22192200-22193800	Enhancers	HSMMtube	muscle
27	chr22:22192200-22195600	Weak transcription	K562	blood
28	chr22:22192200-22195800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr22:22192200-22195800	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr22:22192200-22197200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr22:22192200-22197200	Weak transcription	Aorta	Aorta
32	chr22:22192200-22197200	Weak transcription	Fetal Thymus	thymus
33	chr22:22192200-22197400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
34	chr22:22192200-22197400	Weak transcription	Skeletal Muscle Female	skeletal muscle
35	chr22:22192200-22197600	Weak transcription	Stomach Smooth Muscle	stomach
36	chr22:22192200-22197800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
37	chr22:22192200-22198000	Weak transcription	Primary hematopoietic stem cells	blood
38	chr22:22192200-22198000	Weak transcription	Monocytes-CD14+_RO01746	blood
39	chr22:22192200-22198200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
40	chr22:22192200-22198200	Weak transcription	Fetal Intestine Large	intestine
41	chr22:22192200-22198200	Weak transcription	Fetal Intestine Small	intestine
42	chr22:22192200-22198400	Weak transcription	Right Ventricle	heart
43	chr22:22192200-22198600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr22:22192200-22198600	Weak transcription	Duodenum Mucosa	Duodenum
45	chr22:22192200-22198800	Weak transcription	Brain Substantia Nigra	brain
46	chr22:22192200-22200200	Weak transcription	Primary monocytes fromperipheralblood	blood
47	chr22:22192200-22200400	Weak transcription	Fetal Brain Female	brain
48	chr22:22192200-22200600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr22:22192200-22200800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
50	chr22:22192200-22201200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links