Variant report

Variant	rs34447926
Chromosome Location	chr2:33588869-33588870
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10198960	0.85[ASN][1000 genomes]
rs11892861	0.88[ASN][1000 genomes]
rs2290426	0.87[ASN][1000 genomes]
rs2305502	0.92[ASN][1000 genomes]
rs28414403	0.90[ASN][1000 genomes]
rs28437398	0.82[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs28709139	0.84[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs3769549	0.89[ASN][1000 genomes]
rs3769550	0.87[ASN][1000 genomes]
rs3769552	0.89[ASN][1000 genomes]
rs59867835	0.81[ASN][1000 genomes]
rs6543707	0.88[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	nsv1005435	chr2:33136117-33747159	Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
2	nsv535624	chr2:33136117-33747159	Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
3	nsv1012967	chr2:33533340-33638312	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
4	nsv535627	chr2:33533340-33638312	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:33529800-33609400	Weak transcription	Right Ventricle	heart
2	chr2:33558400-33592200	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr2:33564200-33591600	Weak transcription	Psoas Muscle	Psoas
4	chr2:33565800-33590400	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr2:33565800-33590400	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr2:33571000-33590600	Weak transcription	Brain Hippocampus Middle	brain
7	chr2:33571600-33591600	Weak transcription	Brain Substantia Nigra	brain
8	chr2:33578800-33612200	Weak transcription	Fetal Kidney	kidney
9	chr2:33581000-33589600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr2:33581400-33589000	Weak transcription	NHLF	lung
11	chr2:33581400-33589200	Weak transcription	Fetal Lung	lung
12	chr2:33581400-33590400	Weak transcription	Ovary	ovary
13	chr2:33581400-33590400	Weak transcription	Pancreas	Pancrea
14	chr2:33581400-33591000	Weak transcription	Fetal Muscle Leg	muscle
15	chr2:33581400-33591600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr2:33581400-33594400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr2:33581400-33602200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr2:33581600-33591600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr2:33581600-33592000	Weak transcription	Placenta	Placenta
20	chr2:33581600-33611400	Weak transcription	Fetal Stomach	stomach
21	chr2:33582200-33589000	Weak transcription	Fetal Muscle Trunk	muscle
22	chr2:33582400-33589000	Weak transcription	Stomach Smooth Muscle	stomach
23	chr2:33582400-33589600	Weak transcription	Esophagus	oesophagus
24	chr2:33582600-33590400	Weak transcription	Aorta	Aorta
25	chr2:33582600-33590600	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr2:33582800-33601800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr2:33584200-33593400	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr2:33585800-33591200	Strong transcription	NH-A	brain
29	chr2:33586000-33589200	Weak transcription	Left Ventricle	heart
30	chr2:33586000-33589600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr2:33586000-33591200	Weak transcription	HUES6 Cell Line	embryonic stem cell
32	chr2:33586200-33589000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr2:33586200-33603600	Weak transcription	HUES48 Cell Line	embryonic stem cell
34	chr2:33587200-33589200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr2:33587600-33589200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr2:33588000-33589400	Genic enhancers	Muscle Satellite Cultured Cells	--
37	chr2:33588000-33591800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr2:33588200-33589400	Genic enhancers	Osteobl	bone
39	chr2:33588200-33590400	Weak transcription	Fetal Heart	heart
40	chr2:33588400-33589200	Enhancers	Rectal Smooth Muscle	rectum
41	chr2:33588400-33589400	Enhancers	Colon Smooth Muscle	Colon
42	chr2:33588400-33589400	Enhancers	NHEK	skin
43	chr2:33588400-33589600	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr2:33588400-33589600	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr2:33588400-33589600	Enhancers	HSMM	muscle
46	chr2:33588400-33589600	Enhancers	NHDF-Ad	bronchial
47	chr2:33588400-33624400	Weak transcription	Gastric	stomach
48	chr2:33588600-33590800	Strong transcription	Liver	Liver
49	chr2:33588800-33589200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr2:33588800-33589200	Enhancers	Duodenum Smooth Muscle	Duodenum

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