Variant report

Variant	rs7578149
Chromosome Location	chr2:20312438-20312439
allele	A/C
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	chr2:20311588..20314270-chr2:20375383..20376972,2	MCF-7	breast:
2	chr2:20301755..20305316-chr2:20309151..20312503,4	MCF-7	breast:
3	chr2:20311235..20314165-chr2:20429589..20432745,4	MCF-7	breast:
4	chr2:20309388..20317484-chr2:20420940..20426619,17	MCF-7	breast:
5	chr2:20310761..20313054-chr2:20394708..20396754,2	MCF-7	breast:
6	chr2:20310764..20312703-chr2:20401303..20403107,2	MCF-7	breast:
7	chr2:20309325..20314922-chr2:20379425..20384303,7	MCF-7	breast:
8	chr2:20311719..20314183-chr2:20423425..20424931,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000200763	Chromatin interaction
ENSG00000115884	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs13022175	1.00[CEU][hapmap];0.81[CHB][hapmap];0.91[JPT][hapmap];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs16987379	1.00[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73919270	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7585046	0.92[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.96[YRI][hapmap];0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[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	nsv1009521	chr2:20310479-20388959	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7578149	TTC32	cis	lymphoblastoid	seeQTL

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:20306600-20318400	Enhancers	Placenta	Placenta
2	chr2:20306800-20318200	Weak transcription	Right Ventricle	heart
3	chr2:20308000-20322200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr2:20308800-20313000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr2:20309000-20313200	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr2:20309000-20315400	Weak transcription	Hela-S3	cervix
7	chr2:20310000-20313400	Weak transcription	NHEK	skin
8	chr2:20310200-20313400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr2:20310200-20313400	Weak transcription	HMEC	breast
10	chr2:20310600-20314000	Weak transcription	Gastric	stomach
11	chr2:20311000-20313200	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr2:20311200-20312800	Weak transcription	Fetal Intestine Large	intestine
13	chr2:20311200-20313000	Weak transcription	Stomach Mucosa	stomach
14	chr2:20311400-20313000	Weak transcription	Fetal Intestine Small	intestine
15	chr2:20311600-20313000	Weak transcription	Duodenum Mucosa	Duodenum
16	chr2:20311600-20313000	Weak transcription	Pancreas	Pancrea
17	chr2:20311600-20313200	Weak transcription	Left Ventricle	heart
18	chr2:20311600-20314200	Weak transcription	Small Intestine	intestine
19	chr2:20311600-20314400	Weak transcription	Colonic Mucosa	Colon
20	chr2:20311800-20313000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr2:20311800-20313200	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr2:20311800-20315600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr2:20312000-20314000	Enhancers	HepG2	liver
24	chr2:20312400-20316600	Enhancers	Esophagus	oesophagus

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