Variant report

Variant	rs17039898
Chromosome Location	chr2:50349613-50349614
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:50343694..50346494-chr2:50347691..50350682,2	K562	blood:

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10172776	1.00[EUR][1000 genomes]
rs11900135	1.00[EUR][1000 genomes]
rs13414256	1.00[EUR][1000 genomes]
rs1520527	1.00[EUR][1000 genomes]
rs17039997	1.00[EUR][1000 genomes]
rs2076992	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58188895	1.00[EUR][1000 genomes]
rs58725798	1.00[EUR][1000 genomes]
rs6545141	1.00[EUR][1000 genomes]
rs6545143	1.00[EUR][1000 genomes]
rs6715111	1.00[EUR][1000 genomes]
rs72878105	1.00[EUR][1000 genomes]
rs72878125	1.00[EUR][1000 genomes]
rs72881239	1.00[EUR][1000 genomes]
rs72881247	1.00[EUR][1000 genomes]
rs72885901	1.00[EUR][1000 genomes]
rs72887804	1.00[EUR][1000 genomes]
rs72887806	1.00[EUR][1000 genomes]
rs72887808	1.00[EUR][1000 genomes]
rs72887814	1.00[EUR][1000 genomes]
rs72887825	1.00[EUR][1000 genomes]
rs72887826	1.00[EUR][1000 genomes]
rs72887828	1.00[EUR][1000 genomes]
rs73930328	1.00[EUR][1000 genomes]
rs73930333	1.00[EUR][1000 genomes]
rs7558542	1.00[EUR][1000 genomes]
rs7570586	1.00[EUR][1000 genomes]
rs7579486	1.00[EUR][1000 genomes]
rs7580684	1.00[EUR][1000 genomes]
rs7584237	1.00[EUR][1000 genomes]
rs7601070	1.00[EUR][1000 genomes]
rs7609169	1.00[EUR][1000 genomes]
rs993509	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3388948	chr2:50092667-50602681	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
2	esv3399511	chr2:50092687-50602651	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
3	nsv934303	chr2:50145598-50412189	Bivalent Enhancer Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
4	nsv932915	chr2:50306630-50628415	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	esv2756107	chr2:50307245-50440043	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv948833	chr2:50307245-50459077	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	esv2756536	chr2:50313811-50375695	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	nsv1002344	chr2:50326207-50518933	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	nsv535692	chr2:50326207-50518933	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:50344600-50352400	Weak transcription	Fetal Intestine Large	intestine
2	chr2:50345200-50354200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr2:50347200-50350800	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr2:50347200-50351200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr2:50347600-50352800	Weak transcription	Fetal Brain Male	brain
6	chr2:50348200-50352800	Weak transcription	Brain Germinal Matrix	brain
7	chr2:50349000-50350000	Enhancers	Brain Angular Gyrus	brain
8	chr2:50349200-50349800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr2:50349200-50349800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr2:50349400-50349800	Enhancers	Brain Anterior Caudate	brain
11	chr2:50349400-50349800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
12	chr2:50349400-50350000	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr2:50349400-50350200	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr2:50349400-50350600	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr2:50349400-50350600	Enhancers	Brain Substantia Nigra	brain
16	chr2:50349600-50349800	Enhancers	H9 Cell Line	embryonic stem cell

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