Variant report

Variant	rs35844125
Chromosome Location	chr2:11450020-11450021
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:11449416..11451875-chr2:11454672..11457949,3	K562	blood:
2	chr2:11422735..11425372-chr2:11448792..11450664,2	MCF-7	breast:

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10180914	0.92[ASN][1000 genomes]
rs10181567	0.80[ASN][1000 genomes]
rs10187981	0.80[ASN][1000 genomes]
rs10204503	0.84[ASN][1000 genomes]
rs10929727	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10929728	0.83[ASN][1000 genomes]
rs12469980	0.84[AFR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12476188	0.90[ASN][1000 genomes]
rs12476632	0.91[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs12618325	0.80[ASN][1000 genomes]
rs12622447	0.85[AFR][1000 genomes]
rs12692436	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13016911	0.99[ASN][1000 genomes]
rs13017010	0.82[ASN][1000 genomes]
rs1868585	0.80[ASN][1000 genomes]
rs34554628	0.89[AFR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4669700	0.82[ASN][1000 genomes]
rs4669702	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4669708	0.98[ASN][1000 genomes]
rs6709947	0.99[ASN][1000 genomes]
rs9798189	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[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	nsv526038	chr2:11369078-11489531	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	nsv1010506	chr2:11430965-12057286	Enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
3	nsv535585	chr2:11430965-12057286	Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
4	nsv962059	chr2:11447027-11450757	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:11424800-11455200	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr2:11439200-11453000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr2:11444000-11458600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr2:11444800-11454600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr2:11445000-11465200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr2:11445200-11450200	Weak transcription	Primary monocytes fromperipheralblood	blood
7	chr2:11445400-11460200	Weak transcription	Left Ventricle	heart
8	chr2:11446200-11453200	Weak transcription	K562	blood
9	chr2:11447000-11450200	Weak transcription	Brain Cingulate Gyrus	brain
10	chr2:11447000-11450400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr2:11447000-11450600	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr2:11447000-11450600	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr2:11447000-11451400	Weak transcription	Small Intestine	intestine
14	chr2:11447000-11454400	Weak transcription	Fetal Heart	heart
15	chr2:11447000-11456000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr2:11447000-11459800	Weak transcription	Fetal Kidney	kidney
17	chr2:11447000-11460000	Weak transcription	Ovary	ovary
18	chr2:11447000-11460200	Weak transcription	Fetal Lung	lung
19	chr2:11447200-11450200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr2:11447200-11450200	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr2:11447200-11450800	Weak transcription	A549	lung
22	chr2:11447200-11451000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr2:11447200-11451000	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr2:11447200-11452600	Weak transcription	Fetal Stomach	stomach
25	chr2:11447200-11454400	Weak transcription	HSMM	muscle
26	chr2:11447200-11454600	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr2:11447200-11456000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr2:11447200-11466200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
29	chr2:11447400-11450200	Weak transcription	NHLF	lung
30	chr2:11447400-11450400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr2:11447400-11451400	Weak transcription	Colon Smooth Muscle	Colon
32	chr2:11447800-11450800	Enhancers	Primary neutrophils fromperipheralblood	blood
33	chr2:11448000-11454400	Weak transcription	NHDF-Ad	bronchial
34	chr2:11448000-11465800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr2:11448200-11451400	Weak transcription	Psoas Muscle	Psoas
36	chr2:11449400-11452200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr2:11449400-11455400	Enhancers	HepG2	liver
38	chr2:11449600-11458800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr2:11449800-11450200	Enhancers	Aorta	Aorta
40	chr2:11449800-11450400	Enhancers	Osteobl	bone
41	chr2:11449800-11450600	Enhancers	Breast Myoepithelial Primary Cells	Breast
42	chr2:11449800-11451000	Enhancers	Skeletal Muscle Male	skeletal muscle
43	chr2:11449800-11451200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr2:11449800-11451200	Enhancers	Adipose Nuclei	Adipose
45	chr2:11449800-11451200	Enhancers	Fetal Intestine Large	intestine
46	chr2:11449800-11451200	Enhancers	Fetal Intestine Small	intestine
47	chr2:11449800-11451600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr2:11449800-11452200	Enhancers	Liver	Liver
49	chr2:11450000-11450400	Weak transcription	HMEC	breast
50	chr2:11450000-11451000	Enhancers	Monocytes-CD14+_RO01746	blood

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