Variant report

Variant	rs4748017
Chromosome Location	chr10:6380627-6380628
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10508304	0.84[CHB][hapmap];0.82[JPT][hapmap]
rs10796018	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10906288	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11258121	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11258158	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1535696	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2021950	0.87[GIH][hapmap];0.87[MEX][hapmap];0.89[TSI][hapmap];0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2031220	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2031222	0.95[CEU][hapmap];0.94[EUR][1000 genomes]
rs764189	0.81[JPT][hapmap]
rs7896561	0.95[CEU][hapmap];0.90[EUR][1000 genomes]
rs7902566	0.83[EUR][1000 genomes]
rs7917326	0.84[CHB][hapmap];0.82[JPT][hapmap]
rs7917852	0.95[CEU][hapmap];0.85[TSI][hapmap];0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1042286	chr10:5795129-6578445	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
2	nsv1054044	chr10:6155144-6487217	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	nsv894836	chr10:6246678-6435374	Flanking Active TSS Strong transcription Weak transcription Enhancers Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv430123	chr10:6309402-6448384	Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	nsv430125	chr10:6322167-6477267	Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
6	nsv1053440	chr10:6354798-6669469	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4748017	ITIH2	cis	cerebellum	SCAN

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:6356000-6388200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
2	chr10:6357200-6397400	Weak transcription	Pancreas	Pancrea
3	chr10:6362800-6382600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr10:6371400-6385200	Weak transcription	Spleen	Spleen
5	chr10:6371600-6389800	Weak transcription	Aorta	Aorta
6	chr10:6371800-6389400	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr10:6372000-6387800	Weak transcription	Primary T cells from cord blood	blood
8	chr10:6373800-6384000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr10:6374000-6386400	Weak transcription	Adipose Nuclei	Adipose
10	chr10:6375400-6380800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr10:6376400-6387400	Weak transcription	Dnd41	blood
12	chr10:6376800-6389400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr10:6377800-6389200	Weak transcription	Brain Substantia Nigra	brain
14	chr10:6378000-6384000	Weak transcription	Brain Anterior Caudate	brain
15	chr10:6379800-6388400	Weak transcription	Primary neutrophils fromperipheralblood	blood
16	chr10:6380600-6381200	Enhancers	Fetal Brain Male	brain

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dbSNP/dbVar ID: rs12345 /nsv7879
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