Variant report

Variant	rs72929170
Chromosome Location	chr2:39605436-39605437
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:39603738..39609073-chr2:39660426..39665645,8	MCF-7	breast:
2	chr2:39604271..39606896-chr2:39836073..39838950,2	K562	blood:
3	chr2:39601552..39609752-chr2:39662569..39667062,10	MCF-7	breast:
4	chr2:39596692..39599194-chr2:39603552..39605779,2	K562	blood:

Variant related genes	Relation type
ENSG00000011566	Chromatin interaction
ENSG00000231312	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10490304	0.81[AFR][1000 genomes]
rs58423878	1.00[AMR][1000 genomes]
rs72927125	0.81[AFR][1000 genomes]
rs72929174	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72929178	1.00[AMR][1000 genomes]
rs72929194	0.81[AFR][1000 genomes]
rs72931107	0.81[AFR][1000 genomes]
rs72931126	1.00[AMR][1000 genomes]
rs72931142	1.00[AMR][1000 genomes]
rs72931146	1.00[AMR][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	nsv531346	chr2:39263225-39606367	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
2	nsv581494	chr2:39277851-39626388	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
3	esv1827292	chr2:39385155-39675339	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	esv1812828	chr2:39396457-39675339	Flanking Active TSS Strong transcription Active TSS Enhancers Weak transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
5	nsv997934	chr2:39473548-39751029	Enhancers Strong transcription ZNF genes & repeats Weak transcription Active TSS 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	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:39587000-39608800	Weak transcription	Pancreas	Pancrea
2	chr2:39588000-39607800	Weak transcription	Ovary	ovary
3	chr2:39588000-39608800	Weak transcription	Lung	lung
4	chr2:39588000-39609000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr2:39588000-39630400	Weak transcription	Placenta	Placenta
6	chr2:39591800-39621400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr2:39592000-39606800	Weak transcription	Stomach Smooth Muscle	stomach
8	chr2:39592600-39607000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr2:39592800-39617600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr2:39594600-39608800	Weak transcription	Left Ventricle	heart
11	chr2:39595800-39606800	Weak transcription	HUVEC	blood vessel
12	chr2:39595800-39607200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr2:39596400-39606800	Weak transcription	Fetal Brain Male	brain
14	chr2:39596800-39605600	Weak transcription	Primary T helper cells fromperipheralblood	blood
15	chr2:39597200-39607800	Weak transcription	Small Intestine	intestine
16	chr2:39597600-39605600	Weak transcription	Brain Hippocampus Middle	brain
17	chr2:39597600-39606200	Weak transcription	Brain Anterior Caudate	brain
18	chr2:39597600-39606200	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr2:39598600-39606400	Weak transcription	Colon Smooth Muscle	Colon
20	chr2:39600000-39606400	Weak transcription	Brain Cingulate Gyrus	brain
21	chr2:39600600-39606800	Weak transcription	Fetal Kidney	kidney
22	chr2:39600600-39614600	Weak transcription	Aorta	Aorta
23	chr2:39600800-39606200	Weak transcription	Brain Substantia Nigra	brain
24	chr2:39601000-39606800	Weak transcription	NHEK	skin
25	chr2:39601200-39606200	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr2:39601400-39607000	Weak transcription	Fetal Brain Female	brain
27	chr2:39601600-39609000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
28	chr2:39601800-39606800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr2:39602800-39605600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr2:39603000-39606800	Weak transcription	Fetal Stomach	stomach
31	chr2:39603200-39605800	Weak transcription	Adipose Nuclei	Adipose
32	chr2:39603200-39606800	Weak transcription	Rectal Mucosa Donor 31	rectum
33	chr2:39603200-39606800	Weak transcription	A549	lung
34	chr2:39603200-39608200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr2:39603200-39609000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr2:39603200-39638400	Weak transcription	Hela-S3	cervix
37	chr2:39603400-39606600	Weak transcription	NHDF-Ad	bronchial
38	chr2:39603400-39607800	Weak transcription	Duodenum Mucosa	Duodenum
39	chr2:39603400-39612000	Weak transcription	Fetal Muscle Leg	muscle
40	chr2:39603400-39613200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr2:39603400-39625000	Weak transcription	Sigmoid Colon	Sigmoid Colon
42	chr2:39603400-39626800	Weak transcription	Primary T cells from cord blood	blood
43	chr2:39603600-39607800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr2:39603800-39606200	Weak transcription	Liver	Liver
45	chr2:39603800-39606400	Weak transcription	Dnd41	blood
46	chr2:39603800-39606600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr2:39603800-39606600	Weak transcription	Fetal Muscle Trunk	muscle
48	chr2:39604000-39606400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr2:39604000-39606600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr2:39604000-39606800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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