Variant report

Variant	rs5997518
Chromosome Location	chr22:30161801-30161802
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr22:30161368-30161842	HepG2	liver:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr22:30161269..30163676-chr22:30230353..30231980,2	MCF-7	breast:
2	chr22:30161016..30163060-chr22:30205322..30207910,2	MCF-7	breast:
3	chr22:30094321..30096563-chr22:30160914..30162763,2	MCF-7	breast:
4	chr22:30155454..30157843-chr22:30160935..30162894,2	MCF-7	breast:
5	chr22:30161539..30163655-chr22:30194119..30196895,2	K562	blood:
6	chr22:30161121..30163790-chr22:30207742..30209725,2	MCF-7	breast:

No data

Variant related genes	Relation type
UQCR10	TF binding region
ENSG00000100325	Chromatin interaction

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs1001318	0.89[ASN][1000 genomes]
rs12158466	0.95[EUR][1000 genomes]
rs12159277	0.87[EUR][1000 genomes]
rs12159536	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12163073	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12627866	0.87[EUR][1000 genomes]
rs12628028	0.87[EUR][1000 genomes]
rs12628234	0.85[EUR][1000 genomes]
rs12628545	0.87[EUR][1000 genomes]
rs13057811	0.89[ASN][1000 genomes]
rs14115	0.95[EUR][1000 genomes]
rs16987142	0.92[EUR][1000 genomes]
rs16988049	0.87[EUR][1000 genomes]
rs17711461	0.89[EUR][1000 genomes]
rs17711508	0.92[EUR][1000 genomes]
rs2018808	0.90[EUR][1000 genomes]
rs2232903	1.00[ASN][1000 genomes]
rs2240364	0.89[EUR][1000 genomes]
rs2240365	0.87[EUR][1000 genomes]
rs2240366	0.92[EUR][1000 genomes]
rs28730892	0.90[EUR][1000 genomes]
rs57122143	0.92[EUR][1000 genomes]
rs58015017	0.82[EUR][1000 genomes]
rs59394320	0.84[EUR][1000 genomes]
rs5997507	0.89[ASN][1000 genomes]
rs5997508	0.89[ASN][1000 genomes]
rs5997509	0.89[ASN][1000 genomes]
rs5997515	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5997519	0.95[EUR][1000 genomes]
rs5997520	0.90[EUR][1000 genomes]
rs5997524	0.90[EUR][1000 genomes]
rs6006234	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6006235	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6006238	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6006239	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6006241	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6006242	0.88[EUR][1000 genomes]
rs6006247	0.90[EUR][1000 genomes]
rs6006249	0.90[EUR][1000 genomes]
rs6006250	0.90[EUR][1000 genomes]
rs6006262	0.90[EUR][1000 genomes]
rs60102307	0.84[EUR][1000 genomes]
rs60805530	0.89[EUR][1000 genomes]
rs61616383	0.92[EUR][1000 genomes]
rs71331211	0.89[ASN][1000 genomes]
rs7285660	0.90[EUR][1000 genomes]
rs7285800	0.90[EUR][1000 genomes]
rs7287777	0.82[EUR][1000 genomes]
rs7290420	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73392899	0.81[EUR][1000 genomes]
rs73394814	0.87[EUR][1000 genomes]
rs73394831	0.87[EUR][1000 genomes]
rs73394838	0.90[EUR][1000 genomes]
rs737728	0.92[EUR][1000 genomes]
rs740116	0.87[EUR][1000 genomes]
rs8138165	0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529742	chr22:29677909-30274388	Bivalent Enhancer Enhancers ZNF genes & repeats Strong transcription Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv1064081	chr22:29826745-30623965	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv544677	chr22:29826745-30623965	Weak transcription Bivalent/Poised TSS Strong transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
4	nsv515720	chr22:30081715-30163526	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30131600-30162000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr22:30144400-30162000	Weak transcription	Placenta	Placenta
3	chr22:30144400-30162200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr22:30144600-30162000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr22:30147000-30162000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr22:30147000-30162200	Weak transcription	Gastric	stomach
7	chr22:30147600-30162200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr22:30148200-30162000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
9	chr22:30150400-30162000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr22:30150800-30162000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr22:30150800-30162200	Weak transcription	HSMMtube	muscle
12	chr22:30151000-30162000	Weak transcription	HSMM	muscle
13	chr22:30152000-30162200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr22:30152400-30162000	Weak transcription	Esophagus	oesophagus
15	chr22:30153000-30162000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr22:30153800-30162200	Weak transcription	Aorta	Aorta
17	chr22:30154200-30162000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr22:30155000-30162000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr22:30155400-30162200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr22:30155400-30162200	Weak transcription	Fetal Stomach	stomach
21	chr22:30156800-30162000	Weak transcription	Fetal Kidney	kidney
22	chr22:30158600-30162200	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr22:30158800-30162000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr22:30160400-30162000	Weak transcription	Hela-S3	cervix
25	chr22:30160600-30162000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
26	chr22:30160800-30162200	Enhancers	Fetal Muscle Leg	muscle
27	chr22:30161000-30162000	Enhancers	Skeletal Muscle Male	skeletal muscle
28	chr22:30161000-30164000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr22:30161200-30162200	Enhancers	Fetal Muscle Trunk	muscle
30	chr22:30161400-30162000	Enhancers	Fetal Lung	lung
31	chr22:30161400-30162200	Enhancers	Primary T helper cells fromperipheralblood	blood
32	chr22:30161400-30162200	Enhancers	Thymus	Thymus
33	chr22:30161600-30162000	Enhancers	Primary T helper cells PMA-I stimulated	--
34	chr22:30161600-30162000	Enhancers	Pancreas	Pancrea
35	chr22:30161600-30162000	Enhancers	Psoas Muscle	Psoas
36	chr22:30161600-30162200	Enhancers	Primary T cells fromperipheralblood	blood
37	chr22:30161600-30162200	Enhancers	Primary T killer memory cells from peripheral blood	blood
38	chr22:30161600-30162200	Enhancers	Fetal Brain Male	brain
39	chr22:30161600-30162200	Enhancers	Fetal Thymus	thymus
40	chr22:30161600-30162200	Enhancers	Lung	lung
41	chr22:30161800-30162000	Enhancers	H1 Cell Line	embryonic stem cell
42	chr22:30161800-30162000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr22:30161800-30162000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr22:30161800-30162000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr22:30161800-30162000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr22:30161800-30162000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr22:30161800-30162000	Enhancers	Primary B cells from cord blood	blood
48	chr22:30161800-30162000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
49	chr22:30161800-30162000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr22:30161800-30162000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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