Variant report

Variant	rs6665484
Chromosome Location	chr1:174006131-174006132
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:173999844..174002563-chr1:174002764..174006477,3	MCF-7	breast:
2	chr1:173990529..173993395-chr1:174005171..174007250,2	K562	blood:
3	chr1:174005529..174007608-chr1:174028433..174030780,2	K562	blood:
4	chr1:173999215..174001638-chr1:174003617..174006162,2	K562	blood:
5	chr1:173988271..173993423-chr1:173996333..174006451,14	MCF-7	breast:

Variant related genes	Relation type
ENSG00000135870	Chromatin interaction
ENSG00000224977	Chromatin interaction

Extended variants
information (count: 75 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:72)

rs_ID	r²[population]
rs10798301	0.87[CHB][hapmap]
rs10798302	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10912719	0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10912722	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12063313	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12066153	1.00[CHB][hapmap];0.95[JPT][hapmap];0.93[ASN][1000 genomes]
rs12076799	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12079062	0.83[CHB][hapmap]
rs12092774	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12096785	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12097809	0.93[ASN][1000 genomes]
rs12563301	0.87[CHB][hapmap]
rs12563395	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12568409	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1322775	0.87[CHB][hapmap]
rs1322777	0.87[CHB][hapmap]
rs1322780	0.87[CHB][hapmap]
rs13375086	0.93[ASN][1000 genomes]
rs13376011	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1417186	0.90[YRI][hapmap]
rs16846683	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17350956	1.00[YRI][hapmap]
rs17350991	0.89[YRI][hapmap]
rs17353198	0.91[YRI][hapmap]
rs1799876	0.91[CHB][hapmap]
rs1884994	0.95[CHB][hapmap];0.95[JPT][hapmap];0.93[ASN][1000 genomes]
rs1951627	1.00[CHB][hapmap];0.90[JPT][hapmap];0.82[ASN][1000 genomes]
rs4592301	0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4650945	0.83[CHB][hapmap]
rs4650968	0.91[YRI][hapmap]
rs4652169	0.87[CHB][hapmap]
rs4652179	0.91[YRI][hapmap]
rs4652283	0.85[CEU][hapmap]
rs4652298	0.85[CEU][hapmap]
rs4652328	0.85[CEU][hapmap]
rs56247945	0.93[ASN][1000 genomes]
rs5878	0.87[CHB][hapmap]
rs61547493	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61826843	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs61826844	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs61827891	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs61827894	0.84[EUR][1000 genomes]
rs6425273	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6425275	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes]
rs6661868	0.81[ASN][1000 genomes]
rs6663875	0.87[CHB][hapmap]
rs6668008	0.91[YRI][hapmap]
rs6673632	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6677660	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6678487	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6686083	1.00[CHB][hapmap];0.95[JPT][hapmap];0.94[ASN][1000 genomes]
rs6689285	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6695327	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6696076	0.83[CHB][hapmap]
rs6696163	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6699146	0.87[CHB][hapmap]
rs714624	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7413166	1.00[CHB][hapmap];0.95[JPT][hapmap];0.93[ASN][1000 genomes]
rs7511780	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7514069	0.86[ASN][1000 genomes]
rs7533430	0.83[CHB][hapmap]
rs7538312	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7547280	0.93[ASN][1000 genomes]
rs7553788	0.87[CHB][hapmap]
rs7554915	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9286895	0.87[CHB][hapmap]
rs941989	0.87[CHB][hapmap]
rs9425430	0.87[CHB][hapmap]
rs9425431	0.85[CEU][hapmap]
rs9425433	0.85[CEU][hapmap]
rs9425766	0.87[CHB][hapmap]
rs9661233	0.87[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916960	chr1:173907804-174080248	Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv872551	chr1:173913804-174025660	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	nsv831937	chr1:173949373-174131463	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6665484	SERPINC1	cis	Esophagus Mucosa	GTEx

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:174000000-174008000	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr1:174000200-174009600	Weak transcription	NHLF	lung
3	chr1:174000800-174010600	Weak transcription	HepG2	liver

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