Variant report

Variant	rs4233195
Chromosome Location	chr1:174775874-174775875
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:174769617..174771382-chr1:174773976..174776245,2	K562	blood:
2	chr1:174775809..174777668-chr1:174781118..174782806,2	K562	blood:

Extended variants
information (count: 84 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:75)

rs_ID	r²[population]
rs1016466	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10436863	0.85[EUR][1000 genomes]
rs1046439	0.91[CHB][hapmap];0.90[CHD][hapmap];0.91[JPT][hapmap]
rs10753086	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10912813	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10912824	0.85[CEU][hapmap];0.83[GIH][hapmap];0.84[MEX][hapmap]
rs11804941	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.96[MEX][hapmap];1.00[MKK][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12060177	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12074753	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12083837	0.85[EUR][1000 genomes]
rs1653626	0.84[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.89[TSI][hapmap];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1653627	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.96[MEX][hapmap];1.00[MKK][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1653632	0.84[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.93[TSI][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs170768	0.86[ASW][hapmap];0.85[CEU][hapmap];0.83[GIH][hapmap];0.82[LWK][hapmap];0.84[MEX][hapmap]
rs1754349	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1754351	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.96[MEX][hapmap];1.00[MKK][hapmap];0.93[TSI][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1754355	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1793297	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.96[MEX][hapmap];1.00[MKK][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1793300	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1793308	0.90[ASN][1000 genomes]
rs1793309	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1793319	0.86[ASW][hapmap];0.85[CEU][hapmap];0.83[GIH][hapmap];0.82[LWK][hapmap];0.84[MEX][hapmap]
rs1801791	0.86[CHB][hapmap];0.90[CHD][hapmap];0.91[JPT][hapmap]
rs2187562	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.96[MEX][hapmap];0.93[MKK][hapmap];0.91[TSI][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2285210	0.91[CHB][hapmap];0.90[CHD][hapmap];0.91[JPT][hapmap]
rs2981894	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2987869	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];0.96[MEX][hapmap];1.00[MKK][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2987874	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.93[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3018410	0.84[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.93[TSI][hapmap];0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3118980	0.86[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.98[GIH][hapmap];0.95[JPT][hapmap];1.00[MKK][hapmap];0.91[TSI][hapmap];0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3133270	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs332765	0.84[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.91[TSI][hapmap];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs332770	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs332771	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs332773	0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs332783	0.84[CEU][hapmap]
rs332789	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs332791	0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs332795	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.96[MEX][hapmap];1.00[MKK][hapmap];0.93[TSI][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs332796	0.86[ASW][hapmap];0.85[CEU][hapmap];0.83[GIH][hapmap];0.84[MEX][hapmap]
rs332805	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs333418	0.86[ASW][hapmap];0.85[CEU][hapmap];0.83[GIH][hapmap];0.82[LWK][hapmap];0.84[MEX][hapmap]
rs34819375	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3753563	1.00[CHB][hapmap];0.81[CHD][hapmap];0.91[JPT][hapmap]
rs444678	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs461910	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4650666	0.81[CEU][hapmap]
rs4651238	0.84[ASW][hapmap];0.92[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.91[TSI][hapmap]
rs55741955	0.86[EUR][1000 genomes]
rs61828140	0.86[EUR][1000 genomes]
rs61828142	0.85[EUR][1000 genomes]
rs6425287	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6425305	0.84[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.91[TSI][hapmap];0.83[EUR][1000 genomes]
rs6425309	0.81[CHB][hapmap];0.85[CHD][hapmap];0.91[JPT][hapmap]
rs6425310	0.91[CHB][hapmap];0.90[CHD][hapmap];0.82[JPT][hapmap]
rs6656665	0.84[EUR][1000 genomes]
rs6658861	0.86[ASW][hapmap];0.85[CEU][hapmap];0.83[GIH][hapmap];0.82[LWK][hapmap];0.88[MEX][hapmap]
rs6664864	0.84[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.91[TSI][hapmap];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6665216	0.84[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.91[TSI][hapmap];0.84[EUR][1000 genomes]
rs6671824	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6672148	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6683602	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.96[MEX][hapmap];1.00[MKK][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6688577	0.81[CEU][hapmap];0.83[GIH][hapmap];0.83[MEX][hapmap]
rs6689170	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6696197	0.81[AFR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6701968	1.00[YRI][hapmap]
rs67967476	0.81[AFR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7538588	0.84[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.91[TSI][hapmap];0.86[EUR][1000 genomes]
rs7545910	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7555533	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9425784	0.84[ASN][1000 genomes]
rs9628627	0.84[ASN][1000 genomes]
rs9700904	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9804056	0.84[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.91[TSI][hapmap];0.85[EUR][1000 genomes]
rs989423	1.00[CHB][hapmap];0.93[CHD][hapmap];0.95[JPT][hapmap];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1014637	chr1:174265631-174826765	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv535208	chr1:174265631-174826765	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	esv2755184	chr1:174388343-174970343	Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
4	nsv548198	chr1:174731596-174800872	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
5	esv1824383	chr1:174764839-174801748	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	esv1844306	chr1:174764839-174801748	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
7	esv1819206	chr1:174764839-174802731	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
8	esv1844208	chr1:174764839-174818547	Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
9	esv1847553	chr1:174764839-174818547	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4233195	SLC9A11	cis	parietal	SCAN

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:174769600-174781200	Weak transcription	K562	blood
2	chr1:174769800-174778200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr1:174769800-174787600	Weak transcription	Pancreas	Pancrea
4	chr1:174770000-174777400	Weak transcription	Left Ventricle	heart
5	chr1:174770000-174778000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr1:174770000-174781200	Weak transcription	Liver	Liver
7	chr1:174770000-174781600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr1:174770000-174783000	Weak transcription	Ovary	ovary
9	chr1:174770000-174783600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr1:174770000-174784200	Weak transcription	HSMM	muscle
11	chr1:174770000-174794200	Weak transcription	Fetal Thymus	thymus
12	chr1:174770200-174784000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr1:174770200-174788200	Weak transcription	Primary T cells from cord blood	blood
14	chr1:174770400-174777600	Weak transcription	Primary B cells from peripheral blood	blood
15	chr1:174770400-174778400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
16	chr1:174770400-174778800	Weak transcription	Brain Substantia Nigra	brain
17	chr1:174770400-174781200	Weak transcription	Fetal Intestine Small	intestine
18	chr1:174770400-174781800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr1:174770400-174782000	Weak transcription	Fetal Intestine Large	intestine
20	chr1:174770400-174784200	Weak transcription	Primary B cells from cord blood	blood
21	chr1:174770400-174784400	Weak transcription	Primary hematopoietic stem cells	blood
22	chr1:174770600-174778000	Weak transcription	Fetal Muscle Leg	muscle
23	chr1:174770600-174781600	Weak transcription	Primary T helper cells fromperipheralblood	blood
24	chr1:174770800-174783600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr1:174770800-174786400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr1:174770800-174787600	Weak transcription	Fetal Stomach	stomach
27	chr1:174771400-174779000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr1:174771400-174781800	Weak transcription	HSMMtube	muscle
29	chr1:174771600-174781400	Weak transcription	Pancreatic Islets	Pancreatic Islet
30	chr1:174771600-174787400	Weak transcription	Fetal Brain Male	brain
31	chr1:174772200-174796600	Weak transcription	Primary T helper cells PMA-I stimulated	--
32	chr1:174772600-174778200	Weak transcription	GM12878-XiMat	blood
33	chr1:174772600-174778600	Weak transcription	Brain Angular Gyrus	brain
34	chr1:174772600-174784200	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr1:174772600-174784400	Weak transcription	Brain Anterior Caudate	brain
36	chr1:174773000-174778600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr1:174775600-174777400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr1:174775800-174778800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr1:174775800-174779200	Weak transcription	Brain Germinal Matrix	brain

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