Variant report

Variant	rs66839581
Chromosome Location	chr2:153469039-153469040
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	chr2:153364136..153366729-chr2:153467251..153469526,2	MCF-7	breast:

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11689419	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11694512	0.87[EUR][1000 genomes]
rs12478681	0.88[EUR][1000 genomes]
rs12990935	0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13023975	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16831440	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs34469468	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7575441	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7591868	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	nsv834420	chr2:153339646-153535460	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:153423800-153471200	Weak transcription	Fetal Kidney	kidney
2	chr2:153434200-153473600	Weak transcription	Brain Germinal Matrix	brain
3	chr2:153435400-153473200	Weak transcription	Right Ventricle	heart
4	chr2:153438400-153475400	Weak transcription	Pancreas	Pancrea
5	chr2:153442800-153471600	Weak transcription	Fetal Muscle Trunk	muscle
6	chr2:153443000-153476400	Weak transcription	Rectal Smooth Muscle	rectum
7	chr2:153451200-153476200	Weak transcription	Gastric	stomach
8	chr2:153451400-153473600	Weak transcription	Aorta	Aorta
9	chr2:153454800-153471800	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr2:153454800-153473600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr2:153454800-153473600	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr2:153454800-153496600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr2:153456200-153469600	Weak transcription	A549	lung
14	chr2:153456400-153469800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr2:153457200-153473200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr2:153457200-153505000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr2:153460000-153471400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr2:153462200-153474800	Weak transcription	Fetal Intestine Small	intestine
19	chr2:153463600-153479600	Strong transcription	Placenta	Placenta
20	chr2:153463800-153502800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr2:153464000-153469800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr2:153464000-153479200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr2:153464000-153502800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr2:153464600-153480000	Strong transcription	NHEK	skin
25	chr2:153465600-153474000	Weak transcription	Fetal Brain Male	brain
26	chr2:153466000-153469400	Weak transcription	Brain Angular Gyrus	brain
27	chr2:153466000-153471800	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr2:153466800-153470600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
29	chr2:153467200-153504000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr2:153467800-153470600	Enhancers	Skeletal Muscle Female	skeletal muscle
31	chr2:153467800-153470800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr2:153468000-153469200	Genic enhancers	Brain Cingulate Gyrus	brain
33	chr2:153468000-153469400	Genic enhancers	Brain Hippocampus Middle	brain
34	chr2:153468000-153469400	Enhancers	Brain Substantia Nigra	brain
35	chr2:153468000-153469600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
36	chr2:153468000-153469600	Enhancers	Duodenum Mucosa	Duodenum
37	chr2:153468000-153469600	Enhancers	Skeletal Muscle Male	skeletal muscle
38	chr2:153468000-153470200	Enhancers	Brain Inferior Temporal Lobe	brain
39	chr2:153468000-153470400	Enhancers	Muscle Satellite Cultured Cells	--
40	chr2:153468000-153470400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
41	chr2:153468000-153470400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
42	chr2:153468000-153470600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr2:153468000-153470600	Enhancers	Primary B cells from peripheral blood	blood
44	chr2:153468000-153470600	Enhancers	NHLF	lung
45	chr2:153468000-153470600	Enhancers	Osteobl	bone
46	chr2:153468000-153470800	Genic enhancers	Brain Anterior Caudate	brain
47	chr2:153468000-153470800	Enhancers	NHDF-Ad	bronchial
48	chr2:153468000-153472200	Strong transcription	Fetal Brain Female	brain
49	chr2:153468000-153474200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr2:153468000-153480000	Strong transcription	HepG2	liver

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