Variant report

Variant	rs9303689
Chromosome Location	chr17:33940215-33940216
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:33932060..33934877-chr17:33939469..33942065,2	MCF-7	breast:
2	chr17:33939781..33940585-chr17:34074131..34074823,5	MCF-7	breast:
3	chr17:33938753..33940790-chr17:34074661..34076841,2	K562	blood:
4	chr17:33933800..33936366-chr17:33936981..33942006,8	K562	blood:
5	chr17:33929073..33932041-chr17:33938211..33940599,2	K562	blood:
6	chr17:33940042..33942067-chr17:33943790..33945473,2	K562	blood:

Variant related genes	Relation type
ENSG00000006125	Chromatin interaction

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

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

rs_ID	r²[population]
rs1037591	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs10491114	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10491115	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs11870399	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11870475	0.92[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs12449919	0.92[ASN][1000 genomes]
rs12450039	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs12452633	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs12452961	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12600662	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs12603142	0.97[ASN][1000 genomes]
rs16971117	0.85[AMR][1000 genomes]
rs16971122	0.89[CHB][hapmap];0.91[JPT][hapmap];0.85[YRI][hapmap];0.85[AMR][1000 genomes]
rs1964509	0.96[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs226424	0.86[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.83[MKK][hapmap];1.00[TSI][hapmap];0.85[YRI][hapmap]
rs226427	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap]
rs226433	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.92[ASN][1000 genomes]
rs226435	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.92[ASN][1000 genomes]
rs226436	0.86[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.85[YRI][hapmap];0.92[ASN][1000 genomes]
rs226437	0.92[ASN][1000 genomes]
rs2278950	0.86[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.86[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];0.85[YRI][hapmap];0.96[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs2301731	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2428463	0.92[ASN][1000 genomes]
rs2523115	0.92[ASN][1000 genomes]
rs28384428	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[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]
rs28384429	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28661650	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs3760325	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];1.00[TSI][hapmap];0.92[ASN][1000 genomes]
rs3785759	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];0.85[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3785763	0.97[ASN][1000 genomes]
rs62079728	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7211363	0.92[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs8080648	0.89[AFR][1000 genomes]
rs9891317	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9904644	0.86[ASW][hapmap];0.82[CHD][hapmap];0.84[GIH][hapmap];0.82[JPT][hapmap];0.81[LWK][hapmap];0.85[YRI][hapmap]
rs9904957	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9906037	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9907911	0.85[YRI][hapmap];0.93[AFR][1000 genomes]
rs9914730	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs9916483	0.92[ASN][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	nsv534371	chr17:33456878-34094068	Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	137 gene(s)	inside rSNPs	diseases
2	nsv908079	chr17:33849869-34034851	Active TSS Strong transcription Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
3	nsv1060890	chr17:33884124-34011034	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
4	nsv543318	chr17:33884124-34011034	Genic enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:33915600-33954600	Weak transcription	Small Intestine	intestine
2	chr17:33916000-33942000	Weak transcription	Right Atrium	heart
3	chr17:33916400-33944800	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr17:33916800-33945400	Weak transcription	Stomach Mucosa	stomach
5	chr17:33916800-34001200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr17:33920600-33942200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr17:33920600-33942800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr17:33920600-33944000	Strong transcription	Dnd41	blood
9	chr17:33920600-33969800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr17:33920800-33975800	Strong transcription	Monocytes-CD14+_RO01746	blood
11	chr17:33921000-33940400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr17:33921000-33941400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr17:33921000-33942200	Strong transcription	Primary neutrophils fromperipheralblood	blood
14	chr17:33921000-33943000	Strong transcription	HUES64 Cell Line	embryonic stem cell
15	chr17:33921000-33946200	Strong transcription	HUES48 Cell Line	embryonic stem cell
16	chr17:33921000-33946600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr17:33921000-34024400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr17:33921800-33944000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr17:33923800-33940600	Strong transcription	HUES6 Cell Line	embryonic stem cell
20	chr17:33924600-33941400	Weak transcription	Psoas Muscle	Psoas
21	chr17:33926000-33955200	Weak transcription	Pancreas	Pancrea
22	chr17:33926200-33943800	Weak transcription	Fetal Heart	heart
23	chr17:33926800-33952600	Weak transcription	Fetal Brain Male	brain
24	chr17:33929800-33942200	Strong transcription	Sigmoid Colon	Sigmoid Colon
25	chr17:33931000-34040200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr17:33931800-33942400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr17:33932400-33942200	Strong transcription	Fetal Muscle Leg	muscle
28	chr17:33932600-33942000	Strong transcription	Fetal Lung	lung
29	chr17:33932600-33943000	Strong transcription	Muscle Satellite Cultured Cells	--
30	chr17:33933000-33943000	Strong transcription	Osteobl	bone
31	chr17:33933000-33967400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr17:33933000-33997800	Weak transcription	Esophagus	oesophagus
33	chr17:33933200-33940800	Strong transcription	NHDF-Ad	bronchial
34	chr17:33933600-33941400	Weak transcription	Aorta	Aorta
35	chr17:33933600-33952800	Weak transcription	Brain Substantia Nigra	brain
36	chr17:33933600-33967400	Weak transcription	Gastric	stomach
37	chr17:33934200-33940400	Strong transcription	Primary B cells from cord blood	blood
38	chr17:33934200-33945600	Strong transcription	K562	blood
39	chr17:33934400-33944000	Strong transcription	Rectal Mucosa Donor 31	rectum
40	chr17:33934800-33940400	Strong transcription	Duodenum Smooth Muscle	Duodenum
41	chr17:33935000-33951400	Weak transcription	Brain Angular Gyrus	brain
42	chr17:33935600-33940800	Weak transcription	Hela-S3	cervix
43	chr17:33935600-33944200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
44	chr17:33935600-33953000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
45	chr17:33935600-33953400	Weak transcription	HSMMtube	muscle
46	chr17:33936000-33953800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
47	chr17:33936200-33941800	Weak transcription	NHLF	lung
48	chr17:33936800-33940400	Strong transcription	NHEK	skin
49	chr17:33936800-33956800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
50	chr17:33937000-33951000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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