Variant report

Variant	rs4949913
Chromosome Location	chr1:86063939-86063940
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:86043937..86050216-chr1:86058297..86066765,12	K562	blood:
2	chr1:86046008..86048463-chr1:86063364..86065472,5	MCF-7	breast:
3	chr1:86045233..86051336-chr1:86057804..86069814,19	K562	blood:
4	chr1:86061667..86064228-chr1:86064478..86067432,2	K562	blood:
5	chr1:86046314..86048061-chr1:86063099..86064769,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000230285	Chromatin interaction
ENSG00000142871	Chromatin interaction
ENSG00000272691	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10873711	0.84[YRI][hapmap]
rs1764287	0.83[YRI][hapmap]
rs1775987	0.83[YRI][hapmap]
rs2026772	0.80[YRI][hapmap]
rs4949917	0.83[YRI][hapmap]
rs4949918	0.83[YRI][hapmap]
rs6694808	0.83[YRI][hapmap]
rs7533395	0.87[YRI][hapmap]
rs821387	0.83[YRI][hapmap]
rs821400	0.82[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1006994	chr1:85454304-86327679	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers 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	72 gene(s)	inside rSNPs	diseases
2	esv3391173	chr1:86005637-86337469	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs4949913	MCOLN2	cis	lymphoblastoid	GTEx
rs4949913	DDAH1	cis	cerebellum	SCAN
rs4949913	DNASE2B	cis	cerebellum	SCAN

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:86048800-86081200	Weak transcription	Gastric	stomach
2	chr1:86049000-86068400	Weak transcription	Psoas Muscle	Psoas
3	chr1:86053800-86064600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr1:86053800-86071400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr1:86055000-86064800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr1:86055200-86064600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr1:86062400-86064200	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr1:86062400-86064400	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
9	chr1:86062600-86064000	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr1:86062600-86064000	Enhancers	H9 Cell Line	embryonic stem cell
11	chr1:86062600-86064200	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr1:86062600-86065200	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr1:86062800-86064400	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
14	chr1:86062800-86065000	Enhancers	iPS-20b Cell Line	embryonic stem cell
15	chr1:86063000-86064000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
16	chr1:86063000-86064800	Weak transcription	Rectal Smooth Muscle	rectum
17	chr1:86063000-86069400	Weak transcription	Fetal Lung	lung
18	chr1:86063600-86064000	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
19	chr1:86063600-86068000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr1:86063800-86064400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr1:86063800-86064800	Weak transcription	Stomach Smooth Muscle	stomach
22	chr1:86063800-86065200	Enhancers	A549	lung
23	chr1:86063800-86065800	Enhancers	Colon Smooth Muscle	Colon

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