Variant report

Variant	rs13438712
Chromosome Location	chr7:105542580-105542581
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:105541222..105543246-chr7:105668220..105671143,2	K562	blood:
2	chr7:105542572..105545791-chr7:105546626..105548391,3	K562	blood:

Variant related genes	Relation type
ENSG00000128536	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs1013885	1.00[CEU][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10267654	0.80[EUR][1000 genomes]
rs12113244	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2392639	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs28520423	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4730119	0.93[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];1.00[TSI][hapmap];0.90[YRI][hapmap];0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6948889	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6967740	0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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	nsv1027213	chr7:105438610-106022869	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases

Variant related diseases (count:1)

Disease	PMID	Source
Obesity-related traits	23251661	GWAS catalog

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs13438712	SLC26A4	cis	parietal	SCAN
rs13438712	FAM185A	cis	cerebellum	SCAN
rs13438712	CDHR3	cis	parietal	SCAN
rs13438712	CDHR3	cis	cerebellum	SCAN

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:105518400-105562800	Weak transcription	Aorta	Aorta
2	chr7:105518800-105548200	Weak transcription	Right Atrium	heart
3	chr7:105519000-105542600	Weak transcription	A549	lung
4	chr7:105519800-105550600	Weak transcription	NHLF	lung
5	chr7:105520000-105545600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr7:105520000-105549600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr7:105520000-105549600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr7:105520200-105550400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr7:105522400-105549600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr7:105526400-105547200	Weak transcription	Adipose Nuclei	Adipose
11	chr7:105527800-105547000	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr7:105527800-105547000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr7:105532600-105546800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr7:105533200-105547000	Weak transcription	Fetal Stomach	stomach
15	chr7:105533200-105550600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr7:105535400-105544400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr7:105535800-105564800	Weak transcription	Ovary	ovary
18	chr7:105535800-105566600	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr7:105536000-105551400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr7:105536400-105542600	Weak transcription	NHDF-Ad	bronchial
21	chr7:105537400-105551200	Weak transcription	Liver	Liver
22	chr7:105537800-105546600	Weak transcription	Fetal Brain Female	brain
23	chr7:105538200-105550200	Weak transcription	Fetal Intestine Small	intestine
24	chr7:105538800-105549600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
25	chr7:105538800-105564200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
26	chr7:105539000-105544400	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr7:105539000-105549400	Weak transcription	Primary T cells from cord blood	blood
28	chr7:105539000-105550600	Weak transcription	Primary T helper cells fromperipheralblood	blood
29	chr7:105539000-105551200	Weak transcription	Duodenum Mucosa	Duodenum
30	chr7:105539400-105551200	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr7:105540000-105547000	Weak transcription	Fetal Muscle Leg	muscle
32	chr7:105540800-105547000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr7:105541800-105545400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr7:105542000-105546800	Weak transcription	Stomach Smooth Muscle	stomach
35	chr7:105542000-105547000	Weak transcription	Colon Smooth Muscle	Colon
36	chr7:105542000-105551400	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr7:105542400-105542600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr7:105542400-105542800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr7:105542400-105543000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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