Variant report

Variant	rs9427039
Chromosome Location	chr1:161390516-161390517
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:161369322..161371798-chr1:161389927..161391615,2	MCF-7	breast:
2	chr1:161357605..161359788-chr1:161389913..161391867,2	K562	blood:
3	chr1:161375577..161377566-chr1:161390072..161391593,2	MCF-7	breast:
4	chr1:161385881..161387506-chr1:161389116..161391807,2	K562	blood:
5	chr1:161390100..161392594-chr1:161405039..161407945,2	K562	blood:
6	chr1:161379123..161382070-chr1:161387001..161390523,3	K562	blood:

Variant related genes	Relation type
ENSG00000206921	Chromatin interaction
ENSG00000215840	Chromatin interaction

Extended variants
information (count: 86 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:71)

rs_ID	r²[population]
rs10494359	1.00[ASN][1000 genomes]
rs10494360	1.00[ASN][1000 genomes]
rs11801022	1.00[ASN][1000 genomes]
rs11810143	1.00[ASN][1000 genomes]
rs12722986	1.00[ASN][1000 genomes]
rs12741391	1.00[ASN][1000 genomes]
rs12744234	1.00[ASN][1000 genomes]
rs12746613	1.00[ASN][1000 genomes]
rs12748656	1.00[ASN][1000 genomes]
rs12749237	1.00[ASN][1000 genomes]
rs12758795	1.00[ASN][1000 genomes]
rs17394957	1.00[ASN][1000 genomes]
rs17395595	1.00[ASN][1000 genomes]
rs17398689	1.00[ASN][1000 genomes]
rs17399583	1.00[ASN][1000 genomes]
rs17400053	1.00[ASN][1000 genomes]
rs17400517	1.00[ASN][1000 genomes]
rs34006306	1.00[ASN][1000 genomes]
rs34370781	1.00[ASN][1000 genomes]
rs34550741	1.00[ASN][1000 genomes]
rs35046931	1.00[ASN][1000 genomes]
rs35200803	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35620439	1.00[ASN][1000 genomes]
rs35825219	1.00[ASN][1000 genomes]
rs35949692	1.00[ASN][1000 genomes]
rs36059328	1.00[ASN][1000 genomes]
rs3845548	1.00[ASN][1000 genomes]
rs4082014	1.00[ASN][1000 genomes]
rs4657086	1.00[ASN][1000 genomes]
rs55864322	1.00[ASN][1000 genomes]
rs55971447	1.00[ASN][1000 genomes]
rs56157533	1.00[ASN][1000 genomes]
rs56199187	1.00[ASN][1000 genomes]
rs61686728	1.00[ASN][1000 genomes]
rs61802846	1.00[ASN][1000 genomes]
rs66579967	1.00[ASN][1000 genomes]
rs6666989	1.00[ASN][1000 genomes]
rs6671753	1.00[ASN][1000 genomes]
rs6679543	1.00[ASN][1000 genomes]
rs66888136	1.00[ASN][1000 genomes]
rs67307769	1.00[ASN][1000 genomes]
rs67418890	1.00[ASN][1000 genomes]
rs71632979	1.00[ASN][1000 genomes]
rs71632995	1.00[ASN][1000 genomes]
rs71639056	1.00[ASN][1000 genomes]
rs71639062	1.00[ASN][1000 genomes]
rs72714962	1.00[ASN][1000 genomes]
rs72717013	1.00[ASN][1000 genomes]
rs72717016	1.00[ASN][1000 genomes]
rs72717018	1.00[ASN][1000 genomes]
rs72717040	1.00[ASN][1000 genomes]
rs72717048	1.00[ASN][1000 genomes]
rs7515174	1.00[ASN][1000 genomes]
rs7518087	1.00[ASN][1000 genomes]
rs7529225	1.00[ASN][1000 genomes]
rs7529425	1.00[ASN][1000 genomes]
rs7532275	1.00[ASN][1000 genomes]
rs7539468	1.00[ASN][1000 genomes]
rs7552317	1.00[ASN][1000 genomes]
rs867624	1.00[ASN][1000 genomes]
rs9427059	1.00[ASN][1000 genomes]
rs9427065	1.00[ASN][1000 genomes]
rs9427372	1.00[ASN][1000 genomes]
rs9427387	1.00[ASN][1000 genomes]
rs9427392	1.00[ASN][1000 genomes]
rs9427394	1.00[ASN][1000 genomes]
rs9427398	1.00[ASN][1000 genomes]
rs9427399	1.00[ASN][1000 genomes]
rs9427400	1.00[ASN][1000 genomes]
rs9427401	1.00[ASN][1000 genomes]
rs9427402	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv432986	chr1:161221133-161673682	Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv1010776	chr1:161282384-161409218	Weak transcription Bivalent/Poised TSS Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
3	nsv432998	chr1:161335902-161673682	Active TSS Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	62 gene(s)	inside rSNPs	diseases
4	nsv872493	chr1:161339060-161413794	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
5	nsv433009	chr1:161343927-161639328	Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Enhancers ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
6	nsv1005812	chr1:161343951-161548101	Weak transcription Bivalent Enhancer Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases
7	nsv535182	chr1:161343951-161548101	Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases
8	esv2756866	chr1:161344255-161681552	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	62 gene(s)	inside rSNPs	diseases
9	esv2758972	chr1:161344255-161681552	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	62 gene(s)	inside rSNPs	diseases
10	nsv998957	chr1:161353351-161398414	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
11	nsv433020	chr1:161355634-161673682	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	60 gene(s)	inside rSNPs	diseases
12	esv2754329	chr1:161355728-161673682	Active TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	60 gene(s)	inside rSNPs	diseases
13	nsv433031	chr1:161355728-161673682	Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	60 gene(s)	inside rSNPs	diseases
14	nsv433042	chr1:161372038-161673682	Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
15	nsv433053	chr1:161389417-161673682	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs9427039	FCGR2C	cis	Thyroid	GTEx
rs9427039	FCGR2B	cis	Whole Blood	GTEx
rs9427039	FCGR2C	cis	Muscle Skeletal	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:161378200-161395400	Weak transcription	Pancreas	Pancrea
2	chr1:161379200-161391400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
3	chr1:161379600-161390800	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr1:161383400-161390600	Weak transcription	K562	blood
5	chr1:161385400-161391600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
6	chr1:161388600-161391800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr1:161389600-161390600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr1:161389600-161391200	Enhancers	GM12878-XiMat	blood
9	chr1:161389600-161394800	Weak transcription	Ovary	ovary
10	chr1:161389800-161390600	Weak transcription	Fetal Intestine Small	intestine
11	chr1:161389800-161391400	Weak transcription	HepG2	liver
12	chr1:161390400-161390600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr1:161390400-161391400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
14	chr1:161390400-161392000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
15	chr1:161390400-161392200	Active TSS	ES-I3 Cell Line	embryonic stem cell
16	chr1:161390400-161392200	Active TSS	H1 Cell Line	embryonic stem cell
17	chr1:161390400-161392200	Active TSS	H9 Cell Line	embryonic stem cell
18	chr1:161390400-161392200	Active TSS	HUES48 Cell Line	embryonic stem cell
19	chr1:161390400-161392200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell

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