Variant report

Variant	rs234635
Chromosome Location	chr1:184901248-184901249
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:184899058..184901262-chr1:184941344..184943371,2	MCF-7	breast:
2	chr1:184900279..184904312-chr1:184906554..184908464,3	K562	blood:

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs180046	1.00[CEU][hapmap];0.81[CHB][hapmap];0.85[CHD][hapmap];0.88[JPT][hapmap];0.91[MEX][hapmap];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs186817	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs234110	1.00[CEU][hapmap];0.87[TSI][hapmap]
rs234634	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];0.90[MEX][hapmap];0.94[MKK][hapmap];0.85[TSI][hapmap];0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs234651	0.89[CEU][hapmap]
rs234652	0.89[CEU][hapmap]
rs234653	0.87[CEU][hapmap]
rs234654	0.89[CEU][hapmap]
rs234656	0.89[CEU][hapmap]
rs234680	1.00[CEU][hapmap];1.00[GIH][hapmap];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs234681	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs234682	0.89[ASW][hapmap];1.00[CEU][hapmap];0.81[CHB][hapmap];0.85[CHD][hapmap];0.88[JPT][hapmap];0.91[MEX][hapmap];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs234683	1.00[CEU][hapmap];0.86[CHB][hapmap];0.91[CHD][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs234685	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28927681	0.89[CEU][hapmap]
rs41321748	0.89[CEU][hapmap]
rs569243	0.89[CEU][hapmap]
rs603160	0.89[CEU][hapmap]
rs639593	0.89[CEU][hapmap]
rs642027	0.89[CEU][hapmap]
rs73050699	0.97[EUR][1000 genomes]
rs7528626	0.89[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001323	chr1:184525419-185315876	Weak transcription Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
2	nsv535222	chr1:184525419-185315876	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
3	nsv917126	chr1:184655366-184902273	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
4	nsv525731	chr1:184812165-185038104	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv872585	chr1:184813885-184986725	Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv872586	chr1:184814555-184948689	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
7	nsv872587	chr1:184820832-184986725	Enhancers Genic enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 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	chr1:184863000-184905000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr1:184883600-184902800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr1:184889600-184908200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr1:184896800-184905400	Weak transcription	Fetal Stomach	stomach
5	chr1:184897400-184904400	Weak transcription	Fetal Muscle Leg	muscle
6	chr1:184897800-184901600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr1:184898000-184901400	Weak transcription	Right Atrium	heart
8	chr1:184898000-184901600	Weak transcription	Pancreas	Pancrea
9	chr1:184898000-184904800	Weak transcription	Stomach Smooth Muscle	stomach
10	chr1:184898000-184905200	Weak transcription	Psoas Muscle	Psoas
11	chr1:184898000-184907000	Weak transcription	Lung	lung
12	chr1:184898000-184916600	Weak transcription	Esophagus	oesophagus
13	chr1:184898000-184926200	Weak transcription	Spleen	Spleen
14	chr1:184899400-184904400	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr1:184899400-184905400	Weak transcription	Right Ventricle	heart
16	chr1:184899400-184913600	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr1:184900000-184905000	Weak transcription	Monocytes-CD14+_RO01746	blood
18	chr1:184900000-184905200	Weak transcription	Colon Smooth Muscle	Colon
19	chr1:184900000-184905200	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr1:184900000-184907600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
21	chr1:184900000-184910000	Weak transcription	Primary monocytes fromperipheralblood	blood
22	chr1:184900000-184913000	Weak transcription	K562	blood
23	chr1:184900000-184913200	Weak transcription	NHEK	skin
24	chr1:184900000-184913800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr1:184900200-184903000	Weak transcription	Primary neutrophils fromperipheralblood	blood
26	chr1:184900200-184913800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr1:184900400-184901600	Weak transcription	Left Ventricle	heart
28	chr1:184900400-184905600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr1:184900400-184911800	Weak transcription	Primary T cells fromperipheralblood	blood
30	chr1:184900600-184903000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr1:184900800-184902200	Weak transcription	Fetal Heart	heart
32	chr1:184901000-184901600	Weak transcription	Aorta	Aorta
33	chr1:184901200-184910600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--

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