Variant report

Variant	rs10123969
Chromosome Location	chr9:100462322-100462323
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:100457791..100462084-chr9:100462112..100466505,5	K562	blood:
2	chr9:100461133..100463354-chr9:100744707..100746870,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000136938	Chromatin interaction
ENSG00000136936	Chromatin interaction
ENSG00000214417	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10116536	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10119687	0.98[EUR][1000 genomes]
rs10120102	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10983405	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10983424	0.95[EUR][1000 genomes]
rs10983428	0.95[EUR][1000 genomes]
rs12344605	0.91[AFR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12346336	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12347253	0.94[EUR][1000 genomes]
rs12349178	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12350221	0.95[EUR][1000 genomes]
rs12350946	0.95[EUR][1000 genomes]
rs16923269	0.98[EUR][1000 genomes]
rs16923677	1.00[EUR][1000 genomes]
rs16923719	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16923815	0.93[EUR][1000 genomes]
rs17335265	0.83[AFR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28376250	0.91[EUR][1000 genomes]
rs3176639	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3176748	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4284139	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4480232	0.99[EUR][1000 genomes]
rs4617277	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61047578	0.94[EUR][1000 genomes]
rs7031623	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72751548	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7849509	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs952765	1.00[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	nsv893610	chr9:100324086-100496160	Active TSS Strong transcription Enhancers ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv1043753	chr9:100458109-100599265	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv972792	chr9:100460351-100466365	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:100459800-100466400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr9:100460000-100465400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr9:100460200-100462600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr9:100460200-100462600	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr9:100460200-100465400	Weak transcription	HSMM	muscle
6	chr9:100460400-100462400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
7	chr9:100460400-100465000	Weak transcription	Fetal Intestine Small	intestine
8	chr9:100460400-100465200	Weak transcription	Liver	Liver
9	chr9:100460400-100465200	Weak transcription	Hela-S3	cervix
10	chr9:100460400-100465400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr9:100460400-100465400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr9:100460400-100465400	Weak transcription	Fetal Intestine Large	intestine
13	chr9:100460400-100465400	Weak transcription	HSMMtube	muscle
14	chr9:100460400-100465600	Weak transcription	Pancreas	Pancrea
15	chr9:100460400-100465600	Weak transcription	HUVEC	blood vessel
16	chr9:100460400-100465800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr9:100460400-100465800	Weak transcription	Rectal Smooth Muscle	rectum
18	chr9:100460400-100465800	Weak transcription	Stomach Mucosa	stomach
19	chr9:100460400-100467000	Weak transcription	Esophagus	oesophagus
20	chr9:100460400-100467800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr9:100460600-100462800	Enhancers	HepG2	liver
22	chr9:100460600-100465000	Weak transcription	Pancreatic Islets	Pancreatic Islet
23	chr9:100460600-100465200	Weak transcription	Fetal Kidney	kidney
24	chr9:100460600-100465200	Weak transcription	A549	lung
25	chr9:100461000-100462400	Enhancers	Primary B cells from peripheral blood	blood
26	chr9:100461000-100462400	Enhancers	Brain Substantia Nigra	brain
27	chr9:100461400-100462400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr9:100461400-100467800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
29	chr9:100461600-100465400	Weak transcription	HMEC	breast
30	chr9:100461600-100467200	Weak transcription	Primary T helper cells PMA-I stimulated	--
31	chr9:100461800-100462400	Enhancers	GM12878-XiMat	blood
32	chr9:100462200-100462600	Enhancers	Primary hematopoietic stem cells	blood
33	chr9:100462200-100466000	Weak transcription	K562	blood

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