Variant report

Variant	rs10930800
Chromosome Location	chr2:178459669-178459670
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	chr2:178451009..178452923-chr2:178458608..178461129,2	K562	blood:
2	chr2:178457660..178459858-chr2:178464141..178466236,2	K562	blood:

Extended variants
information (count: 71 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs10170667	0.88[CEU][hapmap];0.84[JPT][hapmap]
rs1047884	0.83[CEU][hapmap]
rs10497501	1.00[CEU][hapmap];0.95[YRI][hapmap];0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10497503	0.89[CEU][hapmap]
rs10930798	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10930799	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10930801	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11684320	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11689550	0.94[EUR][1000 genomes]
rs12463893	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12469386	0.89[CEU][hapmap]
rs12471741	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12612857	1.00[CEU][hapmap];0.80[EUR][1000 genomes]
rs12622298	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12991272	0.88[EUR][1000 genomes]
rs13000048	0.90[CEU][hapmap]
rs13004955	0.89[CEU][hapmap]
rs13013752	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13020788	0.95[CEU][hapmap];0.81[YRI][hapmap]
rs13027299	0.88[EUR][1000 genomes]
rs1348848	0.89[CEU][hapmap]
rs1348849	0.90[CEU][hapmap]
rs1348850	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs1374437	0.89[CEU][hapmap]
rs1405713	1.00[CEU][hapmap];0.95[YRI][hapmap];0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1453370	0.90[CEU][hapmap]
rs1545364	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1548067	1.00[CEU][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1975543	0.86[EUR][1000 genomes]
rs2060929	0.89[CEU][hapmap]
rs2084233	0.89[CEU][hapmap]
rs2121430	0.89[CEU][hapmap]
rs2166554	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2166558	0.90[CEU][hapmap]
rs2364854	0.94[CEU][hapmap]
rs3902850	0.90[CEU][hapmap]
rs3927978	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4243388	0.90[CEU][hapmap]
rs4243390	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4470372	0.82[CEU][hapmap]
rs4528793	1.00[CEU][hapmap];0.95[YRI][hapmap];0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4893822	0.90[CEU][hapmap]
rs4893823	0.88[CEU][hapmap]
rs4893825	0.89[CEU][hapmap]
rs4893950	0.88[CEU][hapmap]
rs4893957	0.89[CEU][hapmap]
rs4893959	0.90[CEU][hapmap]
rs4893961	0.89[CEU][hapmap]
rs4893962	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs4893965	1.00[CEU][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4893966	0.88[EUR][1000 genomes]
rs4893969	0.95[CEU][hapmap];0.80[YRI][hapmap]
rs6710575	0.89[CEU][hapmap]
rs6734528	0.94[CEU][hapmap];0.84[YRI][hapmap]
rs6736390	0.94[CEU][hapmap]
rs6742951	0.90[CEU][hapmap]
rs6761593	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7559521	0.85[EUR][1000 genomes]
rs7587604	0.90[CEU][hapmap]
rs7604673	0.89[CEU][hapmap]
rs7606235	0.90[CEU][hapmap]
rs8941	0.90[CEU][hapmap]
rs952746	0.90[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999086	chr2:178262348-178773585	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv536055	chr2:178262348-178773585	Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	esv2762964	chr2:178416394-178481818	Weak transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	10 gene(s)	inside rSNPs	diseases
4	esv3506731	chr2:178416851-178482200	Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	10 gene(s)	inside rSNPs	diseases
5	esv3506732	chr2:178416851-178482200	Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	10 gene(s)	inside rSNPs	diseases
6	esv3520312	chr2:178417102-178482200	Active TSS Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	10 gene(s)	inside rSNPs	diseases
7	esv3520313	chr2:178417102-178482200	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	10 gene(s)	inside rSNPs	diseases
8	nsv583688	chr2:178427640-178540293	Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10930800	DKFZp451M2119	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:178451600-178461400	Weak transcription	Colon Smooth Muscle	Colon
2	chr2:178458400-178460000	Weak transcription	Fetal Stomach	stomach
3	chr2:178458600-178462600	Weak transcription	Spleen	Spleen
4	chr2:178458600-178467800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr2:178458800-178459800	Weak transcription	Fetal Muscle Leg	muscle
6	chr2:178458800-178461400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr2:178458800-178462000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr2:178459400-178460000	Weak transcription	Fetal Muscle Trunk	muscle
9	chr2:178459400-178462000	Weak transcription	HepG2	liver
10	chr2:178459400-178462400	Weak transcription	K562	blood
11	chr2:178459400-178462600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr2:178459400-178462600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr2:178459400-178462600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr2:178459400-178462600	Weak transcription	Fetal Thymus	thymus

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