Variant report

Variant	rs1052835
Chromosome Location	chr2:10142073-10142074
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:10141011..10144036-chr2:10144143..10145916,3	K562	blood:
2	chr2:10141557..10144433-chr2:10145259..10147096,2	MCF-7	breast:
3	chr2:10140658..10143319-chr2:10184000..10185868,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000188525	Chromatin interaction
ENSG00000172059	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10179034	0.96[ASN][1000 genomes]
rs10203214	0.96[ASN][1000 genomes]
rs10203322	0.96[ASN][1000 genomes]
rs1052838	1.00[ASN][1000 genomes]
rs11246	0.84[CHB][hapmap];0.98[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs13385356	0.96[ASN][1000 genomes]
rs13394227	0.96[ASN][1000 genomes]
rs1465638	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1594398	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1594399	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16867274	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.98[TSI][hapmap]
rs16867280	0.99[ASN][1000 genomes]
rs1864537	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1864538	0.96[ASN][1000 genomes]
rs2116016	0.80[GIH][hapmap]
rs2163338	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs3791749	1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[TSI][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3791750	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs3791753	0.83[JPT][hapmap]
rs4668661	0.96[ASN][1000 genomes]
rs4669515	0.96[ASN][1000 genomes]
rs4669516	0.96[ASN][1000 genomes]
rs6705493	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs6720387	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6733635	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6751681	0.96[ASN][1000 genomes]
rs7596286	0.96[ASN][1000 genomes]
rs930137	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs934303	0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1011125	chr2:9996740-10293803	Enhancers Strong transcription Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
2	nsv1011689	chr2:10023891-10293803	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
3	nsv1002769	chr2:10064511-10157028	Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS 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	14 gene(s)	inside rSNPs	diseases
4	nsv997334	chr2:10080327-10189279	Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
5	nsv828297	chr2:10109299-10236332	Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:10101400-10144800	Weak transcription	Brain Germinal Matrix	brain
2	chr2:10115000-10148000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr2:10124800-10143200	Weak transcription	Brain Cingulate Gyrus	brain
4	chr2:10124800-10149400	Weak transcription	Brain Anterior Caudate	brain
5	chr2:10125000-10147600	Weak transcription	K562	blood
6	chr2:10125000-10149400	Weak transcription	Psoas Muscle	Psoas
7	chr2:10125200-10150000	Weak transcription	Brain Hippocampus Middle	brain
8	chr2:10126000-10144000	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr2:10128000-10142800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr2:10128000-10146400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr2:10131600-10149600	Weak transcription	Brain Substantia Nigra	brain
12	chr2:10132200-10145200	Weak transcription	Fetal Intestine Large	intestine
13	chr2:10132200-10146800	Weak transcription	Duodenum Mucosa	Duodenum
14	chr2:10132400-10146400	Weak transcription	Left Ventricle	heart
15	chr2:10132400-10146800	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr2:10133200-10146400	Weak transcription	Colon Smooth Muscle	Colon
17	chr2:10133400-10144200	Strong transcription	Esophagus	oesophagus
18	chr2:10134000-10145600	Weak transcription	Fetal Kidney	kidney
19	chr2:10134000-10145800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr2:10134200-10147000	Weak transcription	HSMMtube	muscle
21	chr2:10134400-10144000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr2:10134800-10150600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr2:10135400-10146400	Weak transcription	HUVEC	blood vessel
24	chr2:10136000-10144600	Weak transcription	Spleen	Spleen
25	chr2:10137000-10148000	Weak transcription	Hela-S3	cervix
26	chr2:10137200-10142200	Weak transcription	Dnd41	blood
27	chr2:10137200-10144600	Weak transcription	Brain Angular Gyrus	brain
28	chr2:10137200-10146200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr2:10137600-10142400	Weak transcription	Adipose Nuclei	Adipose
30	chr2:10137600-10142800	Weak transcription	NHDF-Ad	bronchial
31	chr2:10137600-10143400	Strong transcription	Placenta	Placenta
32	chr2:10137600-10146400	Weak transcription	Cortex derived primary cultured neurospheres	brain
33	chr2:10137600-10146600	Weak transcription	Fetal Heart	heart
34	chr2:10137600-10146800	Weak transcription	Skeletal Muscle Female	skeletal muscle
35	chr2:10137600-10149800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr2:10137800-10146400	Weak transcription	Fetal Brain Female	brain
37	chr2:10138400-10143000	Weak transcription	Fetal Muscle Trunk	muscle
38	chr2:10139400-10143000	Weak transcription	Pancreas	Pancrea
39	chr2:10139600-10143000	Weak transcription	Skeletal Muscle Male	skeletal muscle
40	chr2:10139600-10147000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr2:10139800-10142800	Weak transcription	Fetal Stomach	stomach
42	chr2:10139800-10146400	Weak transcription	Gastric	stomach
43	chr2:10139800-10150400	Weak transcription	Brain Inferior Temporal Lobe	brain
44	chr2:10141000-10144600	Weak transcription	Fetal Muscle Leg	muscle
45	chr2:10141000-10147000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr2:10141200-10143000	Enhancers	Primary monocytes fromperipheralblood	blood
47	chr2:10141200-10143200	Enhancers	Monocytes-CD14+_RO01746	blood
48	chr2:10141400-10144000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr2:10141400-10145200	Weak transcription	Fetal Intestine Small	intestine
50	chr2:10141400-10146400	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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