Variant report

Variant	rs9863320
Chromosome Location	chr3:23917520-23917521
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:23916969..23919242-chr3:23920900..23922726,2	K562	blood:
2	chr3:23916758..23918575-chr3:23949004..23951255,2	K562	blood:
3	chr3:23916300..23920243-chr3:23955913..23960326,5	K562	blood:
4	chr3:23913990..23915626-chr3:23916378..23919022,2	K562	blood:
5	chr3:23915615..23918264-chr3:23956543..23958747,2	K562	blood:
6	chr3:23916456..23919373-chr3:23958653..23961200,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000174748	Chromatin interaction
ENSG00000197885	Chromatin interaction
ENSG00000231395	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs12631785	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13091509	0.83[EUR][1000 genomes]
rs4024642	0.85[EUR][1000 genomes]
rs4025822	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4131403	0.81[EUR][1000 genomes]
rs4241514	0.91[EUR][1000 genomes]
rs4241517	0.85[EUR][1000 genomes]
rs4321479	0.81[EUR][1000 genomes]
rs4546101	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4589882	0.81[EUR][1000 genomes]
rs4619734	0.81[EUR][1000 genomes]
rs4858094	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4858095	0.81[EUR][1000 genomes]
rs4858550	0.83[EUR][1000 genomes]
rs4858551	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4858553	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6550807	0.84[AMR][1000 genomes]
rs6550815	0.86[EUR][1000 genomes]
rs6550819	0.83[EUR][1000 genomes]
rs6762238	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6764154	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6779476	0.81[EUR][1000 genomes]
rs6794922	0.81[EUR][1000 genomes]
rs7615009	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7615255	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7626431	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7648931	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7651185	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9842907	0.80[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9845287	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[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	nsv533980	chr3:23445901-24311972	ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:23901200-23942000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr3:23901800-23928800	Weak transcription	Primary T cells fromperipheralblood	blood
3	chr3:23901800-23935600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr3:23903400-23929400	Weak transcription	Dnd41	blood
5	chr3:23904000-23918200	Weak transcription	Primary monocytes fromperipheralblood	blood
6	chr3:23904800-23930800	Weak transcription	Primary T helper cells fromperipheralblood	blood
7	chr3:23906400-23922000	Weak transcription	Primary T cells from cord blood	blood
8	chr3:23906600-23931800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr3:23907000-23918400	Weak transcription	Monocytes-CD14+_RO01746	blood
10	chr3:23907000-23920400	Weak transcription	Primary B cells from cord blood	blood
11	chr3:23907600-23917600	Weak transcription	Primary hematopoietic stem cells	blood
12	chr3:23907600-23920000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr3:23907600-23922200	Weak transcription	Primary T helper cells PMA-I stimulated	--
14	chr3:23907600-23940200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr3:23908000-23918200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr3:23908000-23918400	Weak transcription	Spleen	Spleen
17	chr3:23908000-23918600	Weak transcription	Stomach Mucosa	stomach
18	chr3:23908000-23918800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr3:23908000-23922400	Weak transcription	Primary B cells from peripheral blood	blood
20	chr3:23908000-23923600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr3:23908000-23931600	Weak transcription	Duodenum Mucosa	Duodenum
22	chr3:23908000-23935600	Weak transcription	Fetal Kidney	kidney
23	chr3:23908000-23935600	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr3:23908000-23940200	Weak transcription	Gastric	stomach
25	chr3:23908200-23919400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr3:23908200-23930400	Weak transcription	HepG2	liver
27	chr3:23909600-23917800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr3:23911800-23918400	Weak transcription	Lung	lung
29	chr3:23911800-23922600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr3:23912000-23919000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr3:23912000-23919800	Weak transcription	Fetal Stomach	stomach
32	chr3:23912000-23923400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr3:23912200-23918400	Weak transcription	H1 Cell Line	embryonic stem cell
34	chr3:23912200-23918800	Weak transcription	Fetal Thymus	thymus
35	chr3:23912200-23919800	Weak transcription	Fetal Intestine Small	intestine
36	chr3:23912200-23922000	Weak transcription	K562	blood
37	chr3:23912200-23930200	Weak transcription	Liver	Liver
38	chr3:23914000-23924000	Weak transcription	Fetal Intestine Large	intestine
39	chr3:23914600-23919600	Enhancers	NHDF-Ad	bronchial
40	chr3:23914800-23918400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr3:23914800-23919800	Enhancers	Breast Myoepithelial Primary Cells	Breast
42	chr3:23915000-23918200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr3:23915200-23917800	Enhancers	Fetal Muscle Leg	muscle
44	chr3:23915200-23917800	Enhancers	Psoas Muscle	Psoas
45	chr3:23915200-23919800	Enhancers	Fetal Heart	heart
46	chr3:23915200-23919800	Enhancers	NHLF	lung
47	chr3:23915400-23918400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr3:23915400-23918800	Weak transcription	Small Intestine	intestine
49	chr3:23915400-23919400	Enhancers	Brain Hippocampus Middle	brain
50	chr3:23915400-23919600	Enhancers	HUVEC	blood vessel

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