Variant report

Variant	rs17035200
Chromosome Location	chr2:46728527-46728528
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:46721452..46724242-chr2:46727690..46730244,3	MCF-7	breast:
2	chr2:46705265..46709008-chr2:46724758..46728950,5	K562	blood:
3	chr2:46728323..46730226-chr2:46842794..46844864,2	K562	blood:
4	chr2:46726438..46729524-chr2:46768838..46771074,3	K562	blood:
5	chr2:46724349..46729821-chr2:46769212..46772070,6	MCF-7	breast:
6	chr2:46727160..46729338-chr2:46730386..46733073,2	K562	blood:
7	chr2:46721184..46729524-chr2:46766976..46775977,14	K562	blood:

Variant related genes	Relation type
ENSG00000119878	Chromatin interaction
ENSG00000151665	Chromatin interaction
ENSG00000119729	Chromatin interaction
ENSG00000250565	Chromatin interaction
ENSG00000187600	Chromatin interaction

Extended variants
information (count: 81 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:67)

rs_ID	r²[population]
rs1105595	0.82[MEX][hapmap]
rs11125078	0.88[MEX][hapmap];0.86[EUR][1000 genomes]
rs11125079	0.84[YRI][hapmap]
rs11125080	0.89[YRI][hapmap]
rs11125081	1.00[CEU][hapmap];0.88[GIH][hapmap];0.81[JPT][hapmap];0.81[AMR][1000 genomes]
rs12470939	0.80[EUR][1000 genomes]
rs12471274	0.89[EUR][1000 genomes]
rs12473673	0.88[EUR][1000 genomes]
rs12474965	0.83[EUR][1000 genomes]
rs12612916	0.81[JPT][hapmap];0.81[MEX][hapmap];0.88[EUR][1000 genomes]
rs12613088	0.88[EUR][1000 genomes]
rs12613600	0.81[AMR][1000 genomes]
rs12617193	0.92[EUR][1000 genomes]
rs12619386	0.91[EUR][1000 genomes]
rs12619696	0.92[EUR][1000 genomes]
rs12619754	0.80[EUR][1000 genomes]
rs12621486	0.91[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12622818	0.93[MEX][hapmap];0.83[EUR][1000 genomes]
rs1530623	0.94[MEX][hapmap];0.80[EUR][1000 genomes]
rs1551123	1.00[ASW][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.86[JPT][hapmap];0.95[LWK][hapmap];0.94[MEX][hapmap];1.00[MKK][hapmap];0.88[TSI][hapmap];0.95[YRI][hapmap];0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1562454	1.00[ASW][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.91[JPT][hapmap];0.95[LWK][hapmap];0.87[MEX][hapmap];1.00[MKK][hapmap];0.88[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1868845	0.88[EUR][1000 genomes]
rs2053766	0.80[EUR][1000 genomes]
rs2121699	0.86[EUR][1000 genomes]
rs2166746	0.80[EUR][1000 genomes]
rs2276556	0.82[CHD][hapmap];1.00[GIH][hapmap];0.91[JPT][hapmap];0.86[MEX][hapmap];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs34405528	0.83[EUR][1000 genomes]
rs35589072	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4145835	0.80[EUR][1000 genomes]
rs4952826	0.88[MEX][hapmap];0.88[EUR][1000 genomes]
rs4952827	0.88[EUR][1000 genomes]
rs4953364	0.93[MEX][hapmap];0.83[EUR][1000 genomes]
rs4953370	0.80[EUR][1000 genomes]
rs4953376	0.94[MEX][hapmap];0.80[EUR][1000 genomes]
rs4953395	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs55871716	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56894248	0.92[EUR][1000 genomes]
rs57996107	0.89[EUR][1000 genomes]
rs58402726	0.91[EUR][1000 genomes]
rs58725320	0.86[EUR][1000 genomes]
rs59013670	0.83[EUR][1000 genomes]
rs59761895	0.86[EUR][1000 genomes]
rs59856996	0.92[EUR][1000 genomes]
rs60685999	0.92[EUR][1000 genomes]
rs61193538	0.89[EUR][1000 genomes]
rs66533451	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6714240	0.91[JPT][hapmap];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6719900	0.86[CHD][hapmap];0.82[JPT][hapmap]
rs6723195	0.83[EUR][1000 genomes]
rs6749107	0.86[CHD][hapmap];0.82[JPT][hapmap]
rs67739992	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67960524	0.92[EUR][1000 genomes]
rs68030749	0.89[EUR][1000 genomes]
rs72618622	0.80[EUR][1000 genomes]
rs72618623	0.80[EUR][1000 genomes]
rs72618624	0.80[EUR][1000 genomes]
rs72618625	0.80[EUR][1000 genomes]
rs72618626	0.80[EUR][1000 genomes]
rs72618627	0.80[EUR][1000 genomes]
rs72618628	0.86[EUR][1000 genomes]
rs72618629	0.86[EUR][1000 genomes]
rs72618631	0.88[EUR][1000 genomes]
rs72618632	0.91[EUR][1000 genomes]
rs72873772	0.94[EUR][1000 genomes]
rs7573688	0.86[CHD][hapmap];1.00[GIH][hapmap];0.91[JPT][hapmap];0.81[MEX][hapmap];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7574467	0.80[EUR][1000 genomes]
rs7595513	0.88[MEX][hapmap];0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1012446	chr2:45921682-46737036	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
2	esv2757795	chr2:46532812-46874151	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
3	esv2759046	chr2:46532812-46874151	Active TSS Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
4	esv34650	chr2:46605659-46818992	Enhancers Weak transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
5	esv2756919	chr2:46614235-46756431	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
6	nsv437435	chr2:46636967-46763587	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
7	esv34937	chr2:46651624-46818586	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription 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	36 gene(s)	inside rSNPs	diseases
8	nsv9702	chr2:46668106-46745740	Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
9	nsv817828	chr2:46670146-46739157	Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
10	nsv1014425	chr2:46670179-47033417	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
11	nsv535678	chr2:46670179-47033417	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
12	nsv873996	chr2:46670941-47065227	Strong transcription Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
13	nsv1000129	chr2:46723102-46733814	Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
14	nsv1009735	chr2:46724523-46913152	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:46727600-46729200	Weak transcription	Fetal Intestine Large	intestine
2	chr2:46727600-46731400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr2:46727600-46732400	Weak transcription	HMEC	breast
4	chr2:46727600-46733000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr2:46727600-46733400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr2:46727600-46738200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr2:46727800-46728600	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr2:46727800-46729200	Weak transcription	Fetal Intestine Small	intestine
9	chr2:46727800-46730200	Weak transcription	Right Atrium	heart
10	chr2:46727800-46730400	Weak transcription	Brain Angular Gyrus	brain
11	chr2:46727800-46730400	Weak transcription	Placenta	Placenta
12	chr2:46727800-46730400	Weak transcription	HSMMtube	muscle
13	chr2:46727800-46731600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr2:46727800-46732000	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr2:46727800-46732200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr2:46727800-46732200	Weak transcription	NHEK	skin
17	chr2:46728000-46730200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr2:46728000-46731200	Weak transcription	Monocytes-CD14+_RO01746	blood
19	chr2:46728000-46732200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr2:46728000-46733200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
21	chr2:46728200-46728800	Weak transcription	Left Ventricle	heart
22	chr2:46728200-46730400	Weak transcription	Fetal Heart	heart
23	chr2:46728200-46730800	Weak transcription	Primary monocytes fromperipheralblood	blood
24	chr2:46728200-46732000	Weak transcription	K562	blood
25	chr2:46728400-46729200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr2:46728400-46731800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr2:46728400-46733000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood

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