Variant report

Variant	rs718874
Chromosome Location	chr1:94372009-94372010
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:94310017..94311987-chr1:94371318..94373172,2	K562	blood:
2	chr1:94340990..94343514-chr1:94369991..94373741,3	K562	blood:
3	chr1:94310017..94313015-chr1:94371318..94373997,3	K562	blood:
4	chr1:94370087..94372566-chr1:94373448..94376204,3	MCF-7	breast:
5	chr1:94342014..94348814-chr1:94369991..94376733,14	K562	blood:

Variant related genes	Relation type
ENSG00000260464	Chromatin interaction
ENSG00000023909	Chromatin interaction
ENSG00000067334	Chromatin interaction
ENSG00000137936	Chromatin interaction
ENSG00000211575	Chromatin interaction

Extended variants
information (count: 46 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10159000	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10489607	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10874811	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10874812	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11165031	0.97[ASN][1000 genomes]
rs11165034	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11165037	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12068168	0.88[ASN][1000 genomes]
rs12068345	0.98[ASN][1000 genomes]
rs12089163	0.97[ASN][1000 genomes]
rs12122406	0.93[ASN][1000 genomes]
rs12129986	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12130623	0.94[ASN][1000 genomes]
rs12131163	0.93[ASN][1000 genomes]
rs12131247	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12135991	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12140097	0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12401354	0.90[ASN][1000 genomes]
rs1473711	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1989020	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1989021	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2017736	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2092697	0.93[ASN][1000 genomes]
rs2143993	0.93[ASN][1000 genomes]
rs2273406	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2391324	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35674584	0.94[ASN][1000 genomes]
rs3827715	0.99[ASN][1000 genomes]
rs41303970	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4573532	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4598495	0.97[ASN][1000 genomes]
rs57387172	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60120441	0.97[ASN][1000 genomes]
rs61667071	0.97[ASN][1000 genomes]
rs6680027	0.95[ASN][1000 genomes]
rs6681078	0.97[ASN][1000 genomes]
rs6696758	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6699912	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6700112	0.97[ASN][1000 genomes]
rs718873	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs718875	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs743119	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7536714	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs761889	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs769211	0.97[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv523355	chr1:94351328-94385591	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs718874	GCLM	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:94345000-94374200	Weak transcription	Gastric	stomach
2	chr1:94345000-94374200	Weak transcription	Spleen	Spleen
3	chr1:94345200-94374000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr1:94345200-94374200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr1:94345400-94373200	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr1:94345400-94373200	Weak transcription	Brain Substantia Nigra	brain
7	chr1:94345400-94373800	Weak transcription	Fetal Stomach	stomach
8	chr1:94345400-94374000	Weak transcription	Right Ventricle	heart
9	chr1:94345600-94373000	Weak transcription	Fetal Brain Female	brain
10	chr1:94345600-94373200	Weak transcription	Brain Cingulate Gyrus	brain
11	chr1:94345600-94373200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr1:94345600-94373200	Weak transcription	Fetal Brain Male	brain
13	chr1:94345600-94373400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr1:94345600-94373400	Weak transcription	Psoas Muscle	Psoas
15	chr1:94345600-94373400	Weak transcription	Stomach Mucosa	stomach
16	chr1:94345600-94373600	Weak transcription	Brain Germinal Matrix	brain
17	chr1:94347400-94374200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr1:94352800-94373000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr1:94354200-94372600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr1:94354600-94373400	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr1:94356600-94372600	Weak transcription	Colon Smooth Muscle	Colon
22	chr1:94357200-94373800	Weak transcription	Thymus	Thymus
23	chr1:94357400-94374000	Weak transcription	Aorta	Aorta
24	chr1:94357600-94374200	Weak transcription	Pancreas	Pancrea
25	chr1:94357800-94373200	Weak transcription	Esophagus	oesophagus
26	chr1:94357800-94374000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr1:94359800-94373800	Weak transcription	Rectal Smooth Muscle	rectum
28	chr1:94359800-94374000	Weak transcription	Fetal Muscle Trunk	muscle
29	chr1:94360400-94373200	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr1:94360800-94373000	Weak transcription	Fetal Heart	heart
31	chr1:94362400-94373200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr1:94362400-94373200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
33	chr1:94362400-94373200	Weak transcription	Brain Angular Gyrus	brain
34	chr1:94362600-94373200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr1:94362600-94373400	Weak transcription	Stomach Smooth Muscle	stomach
36	chr1:94362600-94373800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr1:94362600-94374200	Weak transcription	Left Ventricle	heart
38	chr1:94362800-94373000	Weak transcription	HUES6 Cell Line	embryonic stem cell
39	chr1:94362800-94373200	Weak transcription	Fetal Muscle Leg	muscle
40	chr1:94362800-94373400	Weak transcription	Fetal Thymus	thymus
41	chr1:94362800-94374000	Weak transcription	Ovary	ovary
42	chr1:94363000-94373200	Weak transcription	Skeletal Muscle Male	skeletal muscle
43	chr1:94363400-94373200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
44	chr1:94366200-94373400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr1:94366800-94374000	Weak transcription	Sigmoid Colon	Sigmoid Colon
46	chr1:94367000-94372200	Weak transcription	Brain Inferior Temporal Lobe	brain
47	chr1:94367000-94372600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr1:94367000-94373200	Weak transcription	HSMMtube	muscle
49	chr1:94367200-94372600	Weak transcription	Skeletal Muscle Female	skeletal muscle
50	chr1:94367200-94373000	Weak transcription	HUES48 Cell Line	embryonic stem cell

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