Variant report

Variant	rs58837546
Chromosome Location	chr1:180635213-180635214
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	chr1:180552648..180554926-chr1:180634516..180636719,2	K562	blood:

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs11484676	1.00[ASN][1000 genomes]
rs11807408	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11807424	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11808588	0.92[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11809124	1.00[ASN][1000 genomes]
rs11810413	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11811353	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12075005	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12749805	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16856374	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16856405	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16856438	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16856475	0.84[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs17301454	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34815509	0.92[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs4652536	1.00[ASN][1000 genomes]
rs58427257	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58685814	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs61809318	1.00[ASN][1000 genomes]
rs61809333	1.00[ASN][1000 genomes]
rs6692550	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7556184	1.00[ASN][1000 genomes]
rs950830	1.00[ASN][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	nsv1003359	chr1:180300936-180727561	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	48 gene(s)	inside rSNPs	diseases
2	nsv949311	chr1:180438895-180692815	ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription 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	46 gene(s)	inside rSNPs	diseases
3	nsv872578	chr1:180510771-180842344	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	esv988017	chr1:180630648-180639452	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:180602000-180645200	Weak transcription	Gastric	stomach
2	chr1:180627600-180640000	Weak transcription	Fetal Heart	heart
3	chr1:180629600-180641000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr1:180631200-180636000	Weak transcription	Ovary	ovary
5	chr1:180631600-180644400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr1:180632200-180644800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr1:180632400-180635400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr1:180632400-180635400	ZNF genes & repeats	Brain Germinal Matrix	brain
9	chr1:180633000-180636000	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr1:180633200-180636200	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr1:180633200-180672000	Weak transcription	K562	blood
12	chr1:180633400-180642600	Weak transcription	Pancreas	Pancrea
13	chr1:180633600-180635600	Strong transcription	Primary B cells from cord blood	blood
14	chr1:180633800-180635600	Weak transcription	Fetal Intestine Large	intestine
15	chr1:180633800-180640200	Weak transcription	Right Ventricle	heart
16	chr1:180634000-180635400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr1:180634000-180643400	Weak transcription	Left Ventricle	heart
18	chr1:180634200-180635600	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
19	chr1:180634200-180636200	ZNF genes & repeats	Primary T cells from cord blood	blood
20	chr1:180634600-180635800	Weak transcription	Fetal Brain Male	brain
21	chr1:180634800-180637400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr1:180634800-180637400	Weak transcription	Lung	lung
23	chr1:180634800-180639800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
24	chr1:180634800-180640400	Weak transcription	Aorta	Aorta
25	chr1:180634800-180643800	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr1:180635000-180637400	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr1:180635000-180642600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr1:180635000-180644800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr1:180635200-180635400	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
30	chr1:180635200-180635600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
31	chr1:180635200-180638200	Weak transcription	Dnd41	blood
32	chr1:180635200-180654800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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