Variant report

Variant	rs7020044
Chromosome Location	chr9:96837996-96837997
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:96836450..96839155-chr9:96927289..96929601,2	K562	blood:
2	chr9:96836002..96839668-chr9:96843062..96845654,3	MCF-7	breast:
3	chr9:96836462..96838504-chr9:96840530..96843822,3	MCF-7	breast:
4	chr9:96834541..96839418-chr9:96928060..96931379,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000269946	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10114421	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10114811	0.87[CEU][hapmap];0.89[CHB][hapmap];0.89[JPT][hapmap];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10116489	0.83[ASW][hapmap];0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.86[MKK][hapmap];1.00[TSI][hapmap];0.82[YRI][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10116746	0.83[ASW][hapmap];0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.83[MKK][hapmap];0.88[TSI][hapmap];0.82[YRI][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10122071	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10761314	0.82[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10821272	0.87[CEU][hapmap];0.87[EUR][1000 genomes]
rs10821276	0.87[CEU][hapmap];0.89[CHB][hapmap];0.97[CHD][hapmap];0.81[GIH][hapmap];0.90[EUR][1000 genomes]
rs10821280	0.82[EUR][1000 genomes]
rs10821281	0.87[CEU][hapmap];0.82[EUR][1000 genomes]
rs10821283	0.87[CEU][hapmap];0.82[EUR][1000 genomes]
rs10821289	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10993003	0.87[EUR][1000 genomes]
rs10993009	0.97[EUR][1000 genomes]
rs10993028	0.96[EUR][1000 genomes]
rs10993030	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10993032	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10993035	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10993039	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.83[MKK][hapmap];0.87[TSI][hapmap];0.81[YRI][hapmap];0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10993044	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10993057	0.85[CEU][hapmap];0.91[EUR][1000 genomes]
rs11793324	0.87[CEU][hapmap];0.87[EUR][1000 genomes]
rs11795301	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12340234	0.83[ASW][hapmap];0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];0.80[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12353106	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1317246	0.82[EUR][1000 genomes]
rs1592152	0.82[EUR][1000 genomes]
rs1854836	0.82[EUR][1000 genomes]
rs1933670	0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1963282	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2094929	0.82[EUR][1000 genomes]
rs2211361	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2225937	0.82[EUR][1000 genomes]
rs4743942	0.83[ASW][hapmap];0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.88[TSI][hapmap];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs57094654	0.97[EUR][1000 genomes]
rs6479526	0.88[ASW][hapmap];0.91[LWK][hapmap];0.83[MEX][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes]
rs7045483	0.83[ASW][hapmap];0.87[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.83[MKK][hapmap];0.88[TSI][hapmap];0.82[YRI][hapmap];0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7859394	0.81[EUR][1000 genomes]
rs7866395	0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7868385	0.82[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	nsv893589	chr9:96624645-96884544	Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv482457	chr9:96813852-96996170	Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	217 gene(s)	inside rSNPs	diseases
3	nsv1043704	chr9:96816552-96873018	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases
4	nsv831655	chr9:96834042-97042009	Enhancers Weak transcription Genic enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	218 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:96822400-96859800	Weak transcription	Psoas Muscle	Psoas
2	chr9:96824000-96845000	Weak transcription	Right Ventricle	heart
3	chr9:96824200-96860000	Weak transcription	Aorta	Aorta
4	chr9:96824200-96869600	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr9:96824400-96846600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr9:96824400-96850000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr9:96824600-96839400	Weak transcription	Left Ventricle	heart
8	chr9:96824600-96844400	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr9:96824600-96845400	Weak transcription	Brain Germinal Matrix	brain
10	chr9:96825200-96839800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr9:96828200-96847600	Weak transcription	HMEC	breast
12	chr9:96828200-96848400	Weak transcription	Fetal Intestine Large	intestine
13	chr9:96828200-96848600	Weak transcription	Colon Smooth Muscle	Colon
14	chr9:96828200-96859600	Weak transcription	Primary T helper cells PMA-I stimulated	--
15	chr9:96828200-96860800	Weak transcription	Primary T helper cells fromperipheralblood	blood
16	chr9:96828200-96862000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr9:96828200-96868200	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr9:96828400-96839400	Weak transcription	Primary B cells from peripheral blood	blood
19	chr9:96828400-96843800	Weak transcription	Brain Anterior Caudate	brain
20	chr9:96828400-96844000	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr9:96828400-96844400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr9:96828400-96846800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr9:96828400-96846800	Weak transcription	Spleen	Spleen
24	chr9:96828400-96847400	Weak transcription	Osteobl	bone
25	chr9:96828400-96847600	Weak transcription	NHEK	skin
26	chr9:96828400-96848400	Weak transcription	NHDF-Ad	bronchial
27	chr9:96828400-96848600	Weak transcription	A549	lung
28	chr9:96829600-96872400	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr9:96829800-96845400	Weak transcription	Fetal Brain Female	brain
30	chr9:96832000-96859800	Weak transcription	Rectal Mucosa Donor 29	rectum
31	chr9:96833400-96841600	Weak transcription	HSMMtube	muscle
32	chr9:96833400-96843800	Weak transcription	Fetal Kidney	kidney
33	chr9:96834000-96846800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr9:96834000-96847600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr9:96834000-96848600	Weak transcription	Duodenum Smooth Muscle	Duodenum
36	chr9:96834200-96838400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr9:96834400-96859800	Weak transcription	Duodenum Mucosa	Duodenum
38	chr9:96835000-96844000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr9:96835200-96847600	Weak transcription	Esophagus	oesophagus
40	chr9:96835400-96838800	Weak transcription	Thymus	Thymus
41	chr9:96835400-96861800	Weak transcription	Primary B cells from cord blood	blood
42	chr9:96836400-96838600	Strong transcription	Fetal Stomach	stomach
43	chr9:96836400-96838600	Enhancers	Pancreas	Pancrea
44	chr9:96836600-96838000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr9:96836800-96844400	Weak transcription	Right Atrium	heart
46	chr9:96837000-96843800	Weak transcription	Brain Angular Gyrus	brain
47	chr9:96837000-96844400	Weak transcription	Fetal Lung	lung
48	chr9:96837000-96857400	Weak transcription	HSMM	muscle
49	chr9:96837200-96839800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr9:96837200-96842000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links