Variant report

Variant	rs35478695
Chromosome Location	chr1:184715417-184715418
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:184709738..184712321-chr1:184713250..184716697,3	K562	blood:
2	chr1:184708973..184712904-chr1:184713895..184716754,5	K562	blood:
3	chr1:184708169..184713415-chr1:184713456..184716461,4	MCF-7	breast:
4	chr1:184687896..184689795-chr1:184715143..184716835,2	MCF-7	breast:
5	chr1:184715138..184717798-chr17:57916015..57918507,3	MCF-7	breast:
6	chr1:184706332..184708758-chr1:184714030..184715698,2	K562	blood:

Variant related genes	Relation type
ENSG00000116406	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs1040666	0.85[EUR][1000 genomes]
rs1046239	0.83[EUR][1000 genomes]
rs1061508	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10752941	0.85[EUR][1000 genomes]
rs10911640	0.83[EUR][1000 genomes]
rs12032144	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12043236	0.85[EUR][1000 genomes]
rs12071631	0.86[EUR][1000 genomes]
rs12124714	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12133674	0.83[EUR][1000 genomes]
rs2024764	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2024766	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2024767	0.85[EUR][1000 genomes]
rs2207733	0.85[EUR][1000 genomes]
rs2333716	0.86[EUR][1000 genomes]
rs3736757	0.84[EUR][1000 genomes]
rs4469687	0.83[EUR][1000 genomes]
rs6663178	0.82[EUR][1000 genomes]
rs6677073	0.82[EUR][1000 genomes]
rs726427	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7523023	0.84[EUR][1000 genomes]
rs7525074	0.85[EUR][1000 genomes]
rs861578	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs861581	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs9425341	0.82[EUR][1000 genomes]
rs9425633	0.83[EUR][1000 genomes]
rs9425634	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9425635	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9658937	0.83[EUR][1000 genomes]
rs9661314	0.83[EUR][1000 genomes]
rs971080	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9787132	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001323	chr1:184525419-185315876	Weak transcription Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers 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	69 gene(s)	inside rSNPs	diseases
2	nsv535222	chr1:184525419-185315876	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
3	nsv832037	chr1:184568194-184756597	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
4	nsv917126	chr1:184655366-184902273	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
5	nsv832048	chr1:184660146-184858802	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
6	nsv1009529	chr1:184663898-184731215	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	esv1849889	chr1:184667371-184718601	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
8	nsv872584	chr1:184678290-184716457	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs35478695	EDEM3	cis	Esophagus Muscularis	GTEx
rs35478695	EDEM3	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:184674600-184723000	Weak transcription	Aorta	Aorta
2	chr1:184677600-184723200	Weak transcription	Lung	lung
3	chr1:184685000-184721800	Weak transcription	Fetal Heart	heart
4	chr1:184685400-184722800	Weak transcription	Ovary	ovary
5	chr1:184685600-184721000	Weak transcription	Right Ventricle	heart
6	chr1:184685600-184722600	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr1:184686200-184722600	Weak transcription	Brain Germinal Matrix	brain
8	chr1:184686400-184715600	Weak transcription	Colonic Mucosa	Colon
9	chr1:184690400-184721800	Weak transcription	Colon Smooth Muscle	Colon
10	chr1:184698200-184722800	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr1:184699800-184722200	Weak transcription	Fetal Stomach	stomach
12	chr1:184701600-184721800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr1:184702200-184721800	Weak transcription	Fetal Muscle Leg	muscle
14	chr1:184702200-184721800	Weak transcription	NH-A	brain
15	chr1:184702200-184722200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr1:184703200-184721800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr1:184703200-184722800	Weak transcription	Fetal Muscle Trunk	muscle
18	chr1:184703400-184721400	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr1:184703600-184720800	Weak transcription	Pancreas	Pancrea
20	chr1:184704600-184721800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr1:184705000-184715600	Weak transcription	Primary B cells from peripheral blood	blood
22	chr1:184705000-184716800	Weak transcription	Left Ventricle	heart
23	chr1:184705000-184721800	Weak transcription	NHEK	skin
24	chr1:184706200-184715800	Weak transcription	Fetal Intestine Large	intestine
25	chr1:184706200-184722400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr1:184706800-184721800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr1:184706800-184721800	Weak transcription	Osteobl	bone
28	chr1:184707000-184721800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
29	chr1:184707000-184723000	Weak transcription	Placenta	Placenta
30	chr1:184707200-184722600	Weak transcription	HSMM	muscle
31	chr1:184710800-184716200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
32	chr1:184710800-184716800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
33	chr1:184710800-184717000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
34	chr1:184710800-184719600	Enhancers	Primary T helper cells fromperipheralblood	blood
35	chr1:184711000-184716800	Enhancers	Primary T helper naive cells from peripheral blood	blood
36	chr1:184711200-184715800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr1:184711200-184716200	Enhancers	Primary T killer memory cells from peripheral blood	blood
38	chr1:184712000-184722800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr1:184712400-184721800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr1:184712600-184716000	Enhancers	Muscle Satellite Cultured Cells	--
41	chr1:184712600-184716200	Enhancers	Duodenum Mucosa	Duodenum
42	chr1:184712600-184722600	Weak transcription	HUES48 Cell Line	embryonic stem cell
43	chr1:184712800-184715600	Weak transcription	Primary T cells fromperipheralblood	blood
44	chr1:184713000-184717200	Enhancers	Primary T cells from cord blood	blood
45	chr1:184713600-184716800	Enhancers	Primary neutrophils fromperipheralblood	blood
46	chr1:184713800-184715600	Genic enhancers	Monocytes-CD14+_RO01746	blood
47	chr1:184713800-184717000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr1:184714000-184715800	Genic enhancers	K562	blood
49	chr1:184714000-184716200	Genic enhancers	Primary monocytes fromperipheralblood	blood
50	chr1:184714000-184716400	Flanking Active TSS	GM12878-XiMat	blood

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