Variant report

Variant	rs34006820
Chromosome Location	chr2:153283034-153283035
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	chr2:153276442..153278166-chr2:153280321..153283147,2	K562	blood:

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10931079	0.84[ASN][1000 genomes]
rs11694392	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11696004	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12476186	0.84[ASN][1000 genomes]
rs12693362	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12999503	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13388095	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16831082	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs16831093	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16831100	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16831118	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2345874	0.84[ASN][1000 genomes]
rs35662043	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3811576	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs66663920	0.80[ASN][1000 genomes]
rs6746538	0.84[ASN][1000 genomes]
rs6757782	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6761178	0.84[ASN][1000 genomes]
rs67689907	0.80[ASN][1000 genomes]
rs73012774	0.84[ASN][1000 genomes]
rs73012784	0.84[ASN][1000 genomes]
rs7587450	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7601047	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[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	nsv834419	chr2:153179420-153381476	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
2	esv3693436	chr2:153219836-153479857	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv875291	chr2:153251742-153339823	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv1013777	chr2:153273637-153538546	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:153264200-153288200	Weak transcription	Stomach Smooth Muscle	stomach
2	chr2:153272600-153284800	Weak transcription	Colon Smooth Muscle	Colon
3	chr2:153272600-153285400	Weak transcription	Gastric	stomach
4	chr2:153272800-153288200	Weak transcription	Right Atrium	heart
5	chr2:153278200-153287400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr2:153278400-153286000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr2:153278400-153289800	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr2:153278600-153284200	Weak transcription	Fetal Lung	lung
9	chr2:153278600-153288000	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr2:153278800-153288200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr2:153278800-153290600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr2:153278800-153291200	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr2:153279000-153284600	Weak transcription	Stomach Mucosa	stomach
14	chr2:153279000-153287400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr2:153279000-153287600	Weak transcription	Adipose Nuclei	Adipose
16	chr2:153279200-153288200	Weak transcription	Left Ventricle	heart
17	chr2:153279400-153285400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr2:153279400-153288200	Weak transcription	Placenta	Placenta
19	chr2:153279400-153288200	Weak transcription	Lung	lung
20	chr2:153280000-153305200	Enhancers	Brain Cingulate Gyrus	brain
21	chr2:153280200-153283400	Weak transcription	HMEC	breast
22	chr2:153280200-153284400	Weak transcription	Hela-S3	cervix
23	chr2:153280400-153287600	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr2:153280600-153284400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr2:153280600-153286400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr2:153280600-153287400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr2:153280800-153286400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr2:153280800-153288400	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr2:153281200-153285400	Weak transcription	Psoas Muscle	Psoas
30	chr2:153281400-153283800	Enhancers	Brain Angular Gyrus	brain
31	chr2:153281400-153285800	Enhancers	Brain Hippocampus Middle	brain
32	chr2:153281400-153285800	Enhancers	Brain Substantia Nigra	brain
33	chr2:153281600-153285400	Enhancers	Brain Inferior Temporal Lobe	brain
34	chr2:153281600-153291600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr2:153282000-153283400	Enhancers	HUES64 Cell Line	embryonic stem cell
36	chr2:153282200-153283200	Enhancers	H9 Cell Line	embryonic stem cell
37	chr2:153282200-153283400	Enhancers	Fetal Kidney	kidney
38	chr2:153282200-153283600	Enhancers	ES-I3 Cell Line	embryonic stem cell
39	chr2:153282200-153283600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr2:153282200-153283600	Enhancers	iPS-15b Cell Line	embryonic stem cell
41	chr2:153282200-153283600	Enhancers	Ovary	ovary
42	chr2:153282200-153283600	Enhancers	HSMMtube	muscle
43	chr2:153282200-153283800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
44	chr2:153282200-153285000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr2:153282400-153283200	Flanking Active TSS	HepG2	liver
46	chr2:153282400-153283400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr2:153282400-153283600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr2:153282400-153285000	Enhancers	NHEK	skin
49	chr2:153282400-153286200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
50	chr2:153282600-153283200	Enhancers	H1 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links