Variant report

Variant	rs574587
Chromosome Location	chr1:70669977-70669978
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:70668667..70673217-chr1:70684547..70688689,8	K562	blood:
2	chr1:70661362..70665473-chr1:70669237..70671298,4	K562	blood:
3	chr1:70669434..70671203-chr1:70686815..70688649,2	MCF-7	breast:
4	chr1:70667153..70674800-chr1:70681943..70693478,26	K562	blood:
5	chr1:70669751..70673129-chr1:70685079..70688457,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000116754	Chromatin interaction
ENSG00000228988	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs169172	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs595662	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs647872	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.83[TSI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6690916	1.00[ASW][hapmap];1.00[GIH][hapmap];1.00[AFR][1000 genomes]
rs699221	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs72678626	0.85[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	esv1798518	chr1:70604106-70723347	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	esv1797140	chr1:70604106-70724622	Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	nsv870841	chr1:70612416-70696554	Active TSS Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
4	esv3363438	chr1:70655980-70675467	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs574587	MIER1	cis	parietal	SCAN

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:70607000-70670200	Weak transcription	Psoas Muscle	Psoas
2	chr1:70607000-70670400	Weak transcription	Small Intestine	intestine
3	chr1:70611200-70670400	Weak transcription	Pancreas	Pancrea
4	chr1:70615000-70670000	Weak transcription	NH-A	brain
5	chr1:70615000-70670400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr1:70634000-70670400	Weak transcription	Lung	lung
7	chr1:70634400-70670200	Weak transcription	Fetal Stomach	stomach
8	chr1:70635000-70670600	Weak transcription	Aorta	Aorta
9	chr1:70639800-70670200	Weak transcription	Placenta	Placenta
10	chr1:70649600-70670400	Weak transcription	Fetal Muscle Leg	muscle
11	chr1:70649800-70670200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr1:70650000-70670400	Weak transcription	Fetal Muscle Trunk	muscle
13	chr1:70650200-70670400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr1:70650600-70670200	Weak transcription	Fetal Thymus	thymus
15	chr1:70651800-70670400	Weak transcription	Primary B cells from peripheral blood	blood
16	chr1:70666400-70670000	Enhancers	Fetal Brain Male	brain
17	chr1:70667800-70670400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
18	chr1:70668200-70670000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr1:70668400-70670400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
20	chr1:70668400-70670400	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr1:70668600-70670000	Enhancers	Breast Myoepithelial Primary Cells	Breast
22	chr1:70668600-70670000	Flanking Active TSS	HepG2	liver
23	chr1:70668600-70670200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
24	chr1:70668600-70670400	Enhancers	Primary B cells from cord blood	blood
25	chr1:70668600-70670600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
26	chr1:70668600-70670600	Flanking Active TSS	Dnd41	blood
27	chr1:70668800-70670400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr1:70668800-70670400	Weak transcription	Gastric	stomach
29	chr1:70668800-70670400	Weak transcription	Spleen	Spleen
30	chr1:70668800-70670800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr1:70669000-70670200	Weak transcription	Right Ventricle	heart
32	chr1:70669000-70670400	Enhancers	Colon Smooth Muscle	Colon
33	chr1:70669200-70670200	Enhancers	Primary T cells from cord blood	blood
34	chr1:70669200-70670200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr1:70669200-70670200	Enhancers	Fetal Lung	lung
36	chr1:70669200-70670400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
37	chr1:70669200-70670400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr1:70669200-70670400	Weak transcription	Left Ventricle	heart
39	chr1:70669200-70670400	Weak transcription	Ovary	ovary
40	chr1:70669200-70670600	Enhancers	Primary T helper cells fromperipheralblood	blood
41	chr1:70669200-70673000	Active TSS	K562	blood
42	chr1:70669400-70670000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr1:70669400-70670000	Enhancers	Hela-S3	cervix
44	chr1:70669400-70670200	Enhancers	Adipose Nuclei	Adipose
45	chr1:70669400-70670200	Flanking Active TSS	Brain Germinal Matrix	brain
46	chr1:70669400-70670400	Enhancers	Rectal Smooth Muscle	rectum
47	chr1:70669400-70672800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr1:70669400-70672800	Active TSS	HUES64 Cell Line	embryonic stem cell
49	chr1:70669600-70670000	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
50	chr1:70669600-70670000	Enhancers	Fetal Heart	heart

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