Variant report

Variant	rs2030991
Chromosome Location	chr9:94645339-94645340
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:94536230..94537049-chr9:94645022..94645936,2	MCF-7	breast:
2	chr9:94636703..94639887-chr9:94643001..94646217,3	K562	blood:
3	chr9:94633023..94637402-chr9:94642921..94647325,4	MCF-7	breast:
4	chr9:94643600..94645407-chr9:94647843..94650643,2	MCF-7	breast:
5	chr9:94643211..94646019-chr9:94657149..94659875,2	K562	blood:
6	chr9:94645315..94647676-chr9:94666839..94670309,3	K562	blood:
7	chr9:94640107..94642644-chr9:94644861..94647641,2	K562	blood:
8	chr9:94538204..94538891-chr9:94644905..94645570,2	MCF-7	breast:
9	chr9:94537463..94538825-chr9:94644671..94645606,9	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000169071	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10761132	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10820908	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10820910	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10992149	0.81[EUR][1000 genomes]
rs11789730	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11790144	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12376130	0.80[EUR][1000 genomes]
rs12555334	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12683797	0.81[EUR][1000 genomes]
rs12684524	0.80[EUR][1000 genomes]
rs12684533	0.80[EUR][1000 genomes]
rs1528363	0.81[EUR][1000 genomes]
rs1528364	0.81[EUR][1000 genomes]
rs1534533	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4744109	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4744110	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4744111	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4744113	0.81[EUR][1000 genomes]
rs55864279	0.80[EUR][1000 genomes]
rs58202197	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62565675	0.81[EUR][1000 genomes]
rs6479377	0.82[EUR][1000 genomes]
rs7870049	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1045332	chr9:94352661-94656016	Active TSS Bivalent Enhancer Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
2	nsv1047426	chr9:94363211-94758114	Weak transcription Bivalent Enhancer Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
3	nsv949008	chr9:94500776-95182133	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
4	nsv530946	chr9:94633154-94715023	Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:94627000-94650800	Weak transcription	Gastric	stomach
2	chr9:94627200-94648600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr9:94627600-94647400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr9:94636600-94646000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr9:94636600-94647200	Weak transcription	Fetal Intestine Large	intestine
6	chr9:94636800-94645400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr9:94638200-94646200	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr9:94638400-94646000	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr9:94639800-94647400	Weak transcription	Stomach Smooth Muscle	stomach
10	chr9:94642800-94646400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr9:94643200-94646000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr9:94643200-94650400	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr9:94643400-94648600	Weak transcription	Pancreas	Pancrea
14	chr9:94643600-94646400	Weak transcription	Colon Smooth Muscle	Colon
15	chr9:94644200-94645400	Strong transcription	Placenta Amnion	Placenta Amnion
16	chr9:94644200-94646000	Weak transcription	Fetal Lung	lung
17	chr9:94644400-94645400	Weak transcription	Fetal Heart	heart
18	chr9:94644400-94645800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr9:94644400-94646000	Weak transcription	Ovary	ovary
20	chr9:94644400-94650800	Weak transcription	Right Atrium	heart
21	chr9:94644800-94645600	Strong transcription	K562	blood
22	chr9:94644800-94647600	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr9:94645000-94645600	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr9:94645200-94645400	Strong transcription	Fetal Intestine Small	intestine
25	chr9:94645200-94646600	Weak transcription	Fetal Stomach	stomach
26	chr9:94645200-94647200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links