Variant report

Variant	rs11587301
Chromosome Location	chr1:211790354-211790355
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:211769278..211770974-chr1:211790049..211792905,2	K562	blood:
2	chr1:211789857..211792626-chr1:211793343..211797405,3	MCF-7	breast:
3	chr1:211782443..211790536-chr1:211800686..211806134,8	K562	blood:
4	chr1:211750028..211753118-chr1:211788431..211791271,4	K562	blood:
5	chr1:211769278..211771749-chr1:211790049..211793183,3	K562	blood:
6	chr1:211789684..211791521-chr1:211794844..211797087,2	K562	blood:
7	chr1:211788189..211791176-chr1:211807791..211810721,2	MCF-7	breast:
8	chr1:211786818..211788395-chr1:211788952..211790929,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000170385	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs11579863	0.89[EUR][1000 genomes]
rs11581007	0.89[EUR][1000 genomes]
rs11581625	0.89[EUR][1000 genomes]
rs11587322	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11587366	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11588304	0.96[EUR][1000 genomes]
rs11589756	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11591188	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12753741	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17017858	0.89[EUR][1000 genomes]
rs34054023	0.82[EUR][1000 genomes]
rs34490984	0.89[EUR][1000 genomes]
rs35101434	0.89[EUR][1000 genomes]
rs35478833	0.89[EUR][1000 genomes]
rs35538219	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6698045	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs67342358	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs67375934	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs67470142	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs71640026	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832514	chr1:211630247-211794963	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:211781800-211792000	Weak transcription	Primary B cells from cord blood	blood
2	chr1:211785600-211794800	Weak transcription	Brain Anterior Caudate	brain
3	chr1:211787000-211796800	Weak transcription	Gastric	stomach
4	chr1:211787400-211793400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr1:211788200-211794600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr1:211788400-211791800	Enhancers	K562	blood
7	chr1:211788400-211793400	Weak transcription	Spleen	Spleen
8	chr1:211788600-211792200	Weak transcription	Fetal Intestine Large	intestine
9	chr1:211788800-211792600	Enhancers	HepG2	liver
10	chr1:211789000-211792200	Weak transcription	Fetal Intestine Small	intestine
11	chr1:211789200-211792600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr1:211789400-211790400	Enhancers	Liver	Liver
13	chr1:211789400-211790400	Enhancers	Right Atrium	heart
14	chr1:211789400-211790400	Enhancers	Right Ventricle	heart
15	chr1:211789400-211790600	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr1:211789400-211790600	Enhancers	Adipose Nuclei	Adipose
17	chr1:211789400-211790800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr1:211789400-211790800	Enhancers	Fetal Muscle Trunk	muscle
19	chr1:211789600-211790400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr1:211789600-211790400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr1:211789600-211790400	Enhancers	Aorta	Aorta
22	chr1:211789600-211790400	Enhancers	Brain Cingulate Gyrus	brain
23	chr1:211789600-211790400	Enhancers	Brain Hippocampus Middle	brain
24	chr1:211789600-211790400	Enhancers	Brain Substantia Nigra	brain
25	chr1:211789600-211790400	Enhancers	Esophagus	oesophagus
26	chr1:211789600-211790400	Enhancers	Skeletal Muscle Male	skeletal muscle
27	chr1:211789600-211790400	Enhancers	Stomach Smooth Muscle	stomach
28	chr1:211789600-211790600	Enhancers	Fetal Muscle Leg	muscle
29	chr1:211789600-211790800	Enhancers	Left Ventricle	heart
30	chr1:211789800-211790400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr1:211789800-211790400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr1:211789800-211790400	Enhancers	Colon Smooth Muscle	Colon
33	chr1:211789800-211790400	Enhancers	Ovary	ovary
34	chr1:211789800-211790600	Enhancers	Brain Inferior Temporal Lobe	brain
35	chr1:211790000-211790400	Enhancers	Cortex derived primary cultured neurospheres	brain
36	chr1:211790000-211790400	Enhancers	Rectal Smooth Muscle	rectum
37	chr1:211790200-211790400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
38	chr1:211790200-211790600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
39	chr1:211790200-211790600	Bivalent Enhancer	Fetal Stomach	stomach
40	chr1:211790200-211794800	Weak transcription	Muscle Satellite Cultured Cells	--
41	chr1:211790200-211794800	Weak transcription	Duodenum Smooth Muscle	Duodenum

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