Variant report

Variant	rs35736382
Chromosome Location	chr1:246890655-246890656
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:246868796..246870534-chr1:246889935..246891767,2	K562	blood:
2	chr1:246862215..246864763-chr1:246888186..246891481,3	K562	blood:
3	chr1:246884666..246886259-chr1:246889523..246891914,2	MCF-7	breast:
4	chr1:246890586..246893581-chr1:246920009..246921935,2	MCF-7	breast:

Extended variants
information (count: 55 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs1127098	0.88[ASN][1000 genomes]
rs1127149	0.85[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs12121187	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12121214	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12124832	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12128579	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12129386	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12129828	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12402095	0.87[ASN][1000 genomes]
rs12403128	0.90[ASN][1000 genomes]
rs12409066	0.87[ASN][1000 genomes]
rs12410595	0.87[ASN][1000 genomes]
rs12735300	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3087781	0.82[ASN][1000 genomes]
rs34048530	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34677128	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35570407	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3795469	0.85[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs4078128	0.82[ASN][1000 genomes]
rs41310575	0.88[ASN][1000 genomes]
rs4926440	0.80[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs4926442	0.87[ASN][1000 genomes]
rs4926443	0.87[ASN][1000 genomes]
rs4926444	0.82[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs4926449	0.85[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs4926450	0.85[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs4926456	0.87[ASN][1000 genomes]
rs61684731	0.98[AMR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61852479	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61852481	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61852482	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6426329	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6689579	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6697433	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6697526	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6699332	0.88[ASN][1000 genomes]
rs6701991	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7365254	1.00[ASN][1000 genomes]
rs7366187	0.98[AMR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7410830	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs74152239	0.94[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7513496	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7526237	0.87[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs7528002	0.82[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs7550482	0.87[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs9659021	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][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	nsv949571	chr1:246688635-247240863	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats 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	61 gene(s)	inside rSNPs	diseases
2	nsv873421	chr1:246818634-247044692	Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	esv2762192	chr1:246823857-247069232	Weak transcription Strong transcription ZNF genes & repeats Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	nsv1006271	chr1:246832606-247276182	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
5	nsv535416	chr1:246832606-247276182	Strong transcription ZNF genes & repeats Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
6	nsv430413	chr1:246845971-246975015	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
7	nsv873422	chr1:246854862-247002638	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
8	nsv1011346	chr1:246868799-247133898	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
9	nsv870294	chr1:246877043-246927940	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs35736382	SCCPDH	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:246888400-246890800	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr1:246888400-246891000	Weak transcription	Aorta	Aorta
3	chr1:246888400-246891600	Weak transcription	Esophagus	oesophagus
4	chr1:246888400-246893400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr1:246888400-246896000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr1:246888400-246900000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr1:246888400-246902000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr1:246888400-246903800	Weak transcription	Primary B cells from peripheral blood	blood
9	chr1:246888400-246946400	Weak transcription	Small Intestine	intestine
10	chr1:246888600-246890800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr1:246888600-246890800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr1:246888600-246891400	Weak transcription	Right Ventricle	heart
13	chr1:246888600-246893400	Weak transcription	Primary B cells from cord blood	blood
14	chr1:246888600-246901400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr1:246888600-246945600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
16	chr1:246888800-246890800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr1:246888800-246890800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr1:246888800-246890800	Weak transcription	Ovary	ovary
19	chr1:246888800-246891000	Weak transcription	Gastric	stomach
20	chr1:246888800-246891000	Weak transcription	Spleen	Spleen
21	chr1:246888800-246891200	Weak transcription	Lung	lung
22	chr1:246888800-246891600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr1:246888800-246892400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr1:246888800-246897400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
25	chr1:246888800-246904000	Weak transcription	Primary T helper cells fromperipheralblood	blood
26	chr1:246888800-246904800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
27	chr1:246889000-246890800	Weak transcription	Brain Angular Gyrus	brain
28	chr1:246889000-246890800	Weak transcription	Colon Smooth Muscle	Colon
29	chr1:246889000-246890800	Weak transcription	NHLF	lung
30	chr1:246889000-246891000	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr1:246889000-246891000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
32	chr1:246889000-246891000	Weak transcription	Colonic Mucosa	Colon
33	chr1:246889000-246891000	Weak transcription	Rectal Smooth Muscle	rectum
34	chr1:246889000-246893400	Weak transcription	Placenta Amnion	Placenta Amnion
35	chr1:246889000-246893400	Weak transcription	A549	lung
36	chr1:246889000-246929000	Weak transcription	Stomach Mucosa	stomach
37	chr1:246889200-246890800	Enhancers	Adipose Nuclei	Adipose
38	chr1:246889200-246891000	Weak transcription	Pancreatic Islets	Pancreatic Islet
39	chr1:246889200-246891600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
40	chr1:246889200-246900600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
41	chr1:246889400-246892200	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
42	chr1:246889400-246892400	Weak transcription	H9 Cell Line	embryonic stem cell
43	chr1:246889400-246893600	Weak transcription	Fetal Brain Male	brain
44	chr1:246889400-246894000	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr1:246889600-246890800	Weak transcription	Brain Inferior Temporal Lobe	brain
46	chr1:246889600-246907000	Strong transcription	Fetal Muscle Trunk	muscle
47	chr1:246889800-246890800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr1:246889800-246890800	Enhancers	Brain Substantia Nigra	brain
49	chr1:246889800-246891000	Weak transcription	Pancreas	Pancrea
50	chr1:246889800-246891600	Weak transcription	Primary T cells fromperipheralblood	blood

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