Variant report

Variant	rs703632
Chromosome Location	chr12:104051407-104051408
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs1650123	0.91[ASN][1000 genomes]
rs1650124	0.90[ASN][1000 genomes]
rs703614	0.81[CHB][hapmap]
rs703616	0.81[CHB][hapmap]
rs703619	0.81[CHB][hapmap]
rs703623	0.95[CHB][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs703624	0.95[CHB][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs703625	0.95[CHB][hapmap];0.80[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs703627	0.91[ASN][1000 genomes]
rs703633	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7958947	1.00[CHB][hapmap];0.95[CHD][hapmap];0.82[JPT][hapmap];0.89[ASN][1000 genomes]
rs831427	0.95[CHB][hapmap];0.95[CHD][hapmap];0.82[JPT][hapmap];0.91[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	nsv865	chr12:104030102-104074864	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs703632	NT5DC3	cis	cerebellum	SCAN
rs703632	IGF1	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104033200-104062200	Weak transcription	Spleen	Spleen
2	chr12:104047000-104059400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr12:104049400-104051600	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr12:104051000-104052400	Enhancers	Primary T cells from cord blood	blood
5	chr12:104051200-104051800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr12:104051200-104051800	Enhancers	HSMM	muscle
7	chr12:104051200-104052000	Enhancers	Primary T helper cells fromperipheralblood	blood
8	chr12:104051200-104052000	Enhancers	HSMMtube	muscle
9	chr12:104051200-104052200	Enhancers	Rectal Mucosa Donor 31	rectum
10	chr12:104051200-104052200	Enhancers	Rectal Smooth Muscle	rectum
11	chr12:104051200-104052600	Enhancers	Primary T helper naive cells from peripheral blood	blood
12	chr12:104051200-104053200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
13	chr12:104051400-104051600	Enhancers	Duodenum Mucosa	Duodenum
14	chr12:104051400-104051600	Enhancers	NHEK	skin
15	chr12:104051400-104051800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr12:104051400-104052000	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr12:104051400-104052000	Enhancers	HMEC	breast
18	chr12:104051400-104052200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr12:104051400-104052600	Enhancers	Primary T killer naive cells fromperipheralblood	blood

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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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