Variant report

Variant	rs7998115
Chromosome Location	chr13:47788770-47788771
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 4 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs1930826	0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2763019	chr13:47348229-48123447	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	esv3394678	chr13:47678184-48039379	Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv832599	chr13:47703075-47873855	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7998115	HTR2A	cis	cerebellum	SCAN

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:47784800-47790200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr13:47785800-47788800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr13:47785800-47788800	Weak transcription	HMEC	breast
4	chr13:47785800-47790000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr13:47786000-47789400	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr13:47786000-47789600	Weak transcription	NH-A	brain
7	chr13:47786000-47789600	Weak transcription	NHEK	skin
8	chr13:47786600-47789600	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr13:47786600-47790000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr13:47786800-47790000	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr13:47787000-47789000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr13:47787200-47789600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr13:47787600-47790000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr13:47787800-47789000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr13:47787800-47790000	Weak transcription	HSMMtube	muscle
16	chr13:47788000-47790000	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr13:47788200-47790000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr13:47788600-47789000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr13:47788600-47790600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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