Variant report

Variant	rs701343
Chromosome Location	chr9:102119013-102119014
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr9:102119000-102119150	GM12865	blood:	n/a	n/a
2	USF1	chr9:102118998-102119276	SK-N-SH_RA	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:102115579..102117316-chr9:102118690..102121559,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ALG2-6	chr9:102118839-102119236	NONHSAT133650

Variant related genes	Relation type
NAMA	TF binding region

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10491654	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10739780	0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs10760680	0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10819657	0.85[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs1323470	0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs1555572	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1555573	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1626179	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1648636	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs16918536	0.93[ASN][1000 genomes]
rs170461	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1746153	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs192965	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2281728	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2586563	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs323723	0.91[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs323724	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs323725	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs323726	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs323734	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs323735	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs398150	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs398676	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs417512	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs439733	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4742768	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs696875	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs696876	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs701344	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs701347	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs701349	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs701350	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs7023945	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7024065	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7029079	0.85[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs7030379	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7037489	0.85[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs7038667	0.85[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs7871334	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs988245	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]

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	nsv893620	chr9:102029791-102194921	Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv831667	chr9:102068047-102285691	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv1046898	chr9:102111890-102163313	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:102114800-102131600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr9:102116400-102120600	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr9:102116400-102121000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr9:102116400-102124400	Weak transcription	Colon Smooth Muscle	Colon
5	chr9:102118000-102120200	Enhancers	Adipose Nuclei	Adipose
6	chr9:102118000-102120200	Enhancers	Liver	Liver
7	chr9:102118000-102120200	Enhancers	NHDF-Ad	bronchial
8	chr9:102118000-102120800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr9:102118200-102119600	Enhancers	Right Ventricle	heart
10	chr9:102118200-102120200	Enhancers	Fetal Muscle Trunk	muscle
11	chr9:102118200-102121200	Enhancers	Fetal Muscle Leg	muscle
12	chr9:102118200-102123400	Enhancers	Left Ventricle	heart
13	chr9:102118200-102124600	Enhancers	Psoas Muscle	Psoas
14	chr9:102118400-102119400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr9:102118400-102119600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
16	chr9:102118400-102120200	Enhancers	NHLF	lung
17	chr9:102118400-102120800	Enhancers	Fetal Heart	heart
18	chr9:102118600-102119200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr9:102118600-102119400	Enhancers	Brain Cingulate Gyrus	brain
20	chr9:102118600-102119400	Enhancers	Brain Substantia Nigra	brain
21	chr9:102118600-102119600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr9:102118600-102119600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
23	chr9:102118600-102120200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr9:102118600-102120200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr9:102118600-102120200	Enhancers	Brain Hippocampus Middle	brain
26	chr9:102118600-102120400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr9:102118600-102120600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr9:102118800-102119200	Enhancers	Esophagus	oesophagus
29	chr9:102118800-102119400	Weak transcription	Right Atrium	heart
30	chr9:102118800-102119600	Enhancers	iPS-15b Cell Line	embryonic stem cell
31	chr9:102118800-102120000	Enhancers	Osteobl	bone
32	chr9:102118800-102120200	Enhancers	Brain Anterior Caudate	brain
33	chr9:102118800-102120400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr9:102118800-102120400	Enhancers	Stomach Smooth Muscle	stomach
35	chr9:102119000-102119200	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr9:102119000-102119200	Enhancers	Brain Inferior Temporal Lobe	brain

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