Variant report

Variant	rs731169
Chromosome Location	chr2:10109281-10109282
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:10108326..10110432-chr2:10178116..10179884,2	K562	blood:
2	chr2:10102444..10109047-chr2:10109192..10115495,9	MCF-7	breast:
3	chr2:10100605..10103571-chr2:10109016..10111061,2	MCF-7	breast:
4	chr2:10107517..10109483-chr2:10116044..10117875,2	K562	blood:

Variant related genes	Relation type
ENSG00000134317	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs60543624	1.00[AMR][1000 genomes]
rs73162292	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948591	chr2:9922257-10141191	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
2	esv1843231	chr2:9979766-10141191	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
3	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
4	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
5	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
6	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

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:10092600-10112600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr2:10092600-10113400	Weak transcription	Left Ventricle	heart
3	chr2:10092800-10110600	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr2:10093200-10110600	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr2:10093600-10112600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr2:10094800-10110400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr2:10094800-10124400	Weak transcription	Fetal Intestine Large	intestine
8	chr2:10095000-10112600	Weak transcription	Hela-S3	cervix
9	chr2:10099000-10110000	Strong transcription	Placenta	Placenta
10	chr2:10099000-10115400	Strong transcription	Liver	Liver
11	chr2:10101000-10113200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr2:10101000-10117000	Strong transcription	HepG2	liver
13	chr2:10101400-10110400	Weak transcription	Fetal Muscle Leg	muscle
14	chr2:10101400-10110400	Weak transcription	Fetal Stomach	stomach
15	chr2:10101400-10144800	Weak transcription	Brain Germinal Matrix	brain
16	chr2:10101600-10110600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr2:10101600-10113000	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr2:10101600-10116400	Weak transcription	Brain Cingulate Gyrus	brain
19	chr2:10101600-10136400	Weak transcription	Brain Angular Gyrus	brain
20	chr2:10101800-10114800	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr2:10102200-10110600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr2:10102200-10136400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr2:10102400-10116600	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr2:10104600-10130200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr2:10104800-10110600	Weak transcription	Psoas Muscle	Psoas
26	chr2:10104800-10112600	Weak transcription	Fetal Intestine Small	intestine
27	chr2:10104800-10112600	Weak transcription	Gastric	stomach
28	chr2:10105600-10111000	Weak transcription	Fetal Kidney	kidney
29	chr2:10106000-10110400	Weak transcription	Adipose Nuclei	Adipose
30	chr2:10106000-10112600	Weak transcription	Pancreas	Pancrea
31	chr2:10106000-10119800	Weak transcription	Dnd41	blood
32	chr2:10106200-10110400	Weak transcription	Placenta Amnion	Placenta Amnion
33	chr2:10107400-10111000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr2:10107800-10109400	Enhancers	K562	blood
35	chr2:10107800-10110400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr2:10107800-10112400	Weak transcription	Stomach Mucosa	stomach
37	chr2:10108000-10109400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr2:10108000-10110200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr2:10108400-10110400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr2:10108600-10109400	Strong transcription	Esophagus	oesophagus
41	chr2:10108800-10109600	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr2:10108800-10109600	Enhancers	Fetal Thymus	thymus
43	chr2:10109000-10109400	Weak transcription	Lung	lung
44	chr2:10109000-10112000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr2:10109200-10109600	Enhancers	Primary hematopoietic stem cells	blood
46	chr2:10109200-10109800	Enhancers	Colon Smooth Muscle	Colon
47	chr2:10109200-10110400	Weak transcription	Ovary	ovary

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