Variant report

Variant	rs13034458
Chromosome Location	chr2:153288667-153288668
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:153288374..153290772-chr2:153291020..153293093,2	K562	blood:
2	chr2:153279392..153282139-chr2:153288134..153290095,2	K562	blood:

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs12104452	1.00[EUR][1000 genomes]
rs12987348	1.00[EUR][1000 genomes]
rs12989840	1.00[EUR][1000 genomes]
rs12991203	1.00[ASN][1000 genomes]
rs12991474	1.00[EUR][1000 genomes]
rs12993239	1.00[EUR][1000 genomes]
rs12999189	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13011850	1.00[EUR][1000 genomes]
rs13015675	1.00[ASN][1000 genomes]
rs13016534	0.89[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs13018434	1.00[EUR][1000 genomes]
rs13021931	1.00[EUR][1000 genomes]
rs13026023	1.00[ASN][1000 genomes]
rs13027160	1.00[EUR][1000 genomes]
rs13027356	1.00[EUR][1000 genomes]
rs13029667	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13034520	0.89[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs34300140	1.00[EUR][1000 genomes]
rs34332337	1.00[EUR][1000 genomes]
rs34416306	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34457645	1.00[EUR][1000 genomes]
rs34504342	1.00[EUR][1000 genomes]
rs34722196	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34974542	1.00[ASN][1000 genomes]
rs35199259	1.00[EUR][1000 genomes]
rs35472114	1.00[EUR][1000 genomes]
rs35588394	0.89[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs35804350	1.00[EUR][1000 genomes]
rs35873507	1.00[ASN][1000 genomes]
rs36108117	1.00[EUR][1000 genomes]
rs59119022	1.00[AMR][1000 genomes]
rs6434046	1.00[EUR][1000 genomes]
rs6731516	1.00[EUR][1000 genomes]
rs6745613	1.00[EUR][1000 genomes]
rs71417223	1.00[ASN][1000 genomes]
rs71417224	1.00[ASN][1000 genomes]
rs71417225	0.80[AFR][1000 genomes]
rs71417227	1.00[EUR][1000 genomes]
rs71417229	1.00[EUR][1000 genomes]
rs73016010	1.00[EUR][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:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:153278400-153289800	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr2:153278800-153290600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr2:153278800-153291200	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr2:153280000-153305200	Enhancers	Brain Cingulate Gyrus	brain
5	chr2:153281600-153291600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr2:153282600-153304400	Enhancers	Brain Anterior Caudate	brain
7	chr2:153283200-153288800	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr2:153283400-153288800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr2:153283600-153288800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr2:153283600-153288800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr2:153283600-153289400	Weak transcription	Pancreas	Pancrea
12	chr2:153284200-153291600	Enhancers	Brain Angular Gyrus	brain
13	chr2:153285000-153290800	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr2:153285400-153289000	Weak transcription	Duodenum Mucosa	Duodenum
15	chr2:153285600-153290000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr2:153285800-153289200	Enhancers	Fetal Kidney	kidney
17	chr2:153285800-153292200	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chr2:153286000-153289200	Weak transcription	Psoas Muscle	Psoas
19	chr2:153286200-153288800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr2:153286200-153290200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr2:153286200-153291600	Enhancers	Brain Inferior Temporal Lobe	brain
22	chr2:153286200-153301000	Enhancers	Brain Hippocampus Middle	brain
23	chr2:153286400-153288800	Weak transcription	Fetal Lung	lung
24	chr2:153286400-153289400	Enhancers	iPS-20b Cell Line	embryonic stem cell
25	chr2:153286400-153291800	Enhancers	HUES64 Cell Line	embryonic stem cell
26	chr2:153286400-153305200	Enhancers	Brain Substantia Nigra	brain
27	chr2:153286800-153288800	Enhancers	NHDF-Ad	bronchial
28	chr2:153287000-153288800	Weak transcription	Fetal Brain Female	brain
29	chr2:153287200-153290000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr2:153287400-153289400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr2:153287400-153290800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr2:153287400-153291200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr2:153287400-153291400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr2:153287400-153291400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr2:153287600-153288800	Enhancers	Skeletal Muscle Female	skeletal muscle
36	chr2:153287600-153289200	Enhancers	Fetal Brain Male	brain
37	chr2:153287600-153291000	Enhancers	Hela-S3	cervix
38	chr2:153287600-153291200	Enhancers	Adipose Nuclei	Adipose
39	chr2:153287600-153291400	Enhancers	Fetal Stomach	stomach
40	chr2:153287600-153291800	Enhancers	HepG2	liver
41	chr2:153287800-153288800	Enhancers	Skeletal Muscle Male	skeletal muscle
42	chr2:153287800-153289600	Enhancers	Muscle Satellite Cultured Cells	--
43	chr2:153287800-153291200	Enhancers	Primary monocytes fromperipheralblood	blood
44	chr2:153287800-153291200	Enhancers	Colon Smooth Muscle	Colon
45	chr2:153288000-153289600	Enhancers	Duodenum Smooth Muscle	Duodenum
46	chr2:153288000-153289600	Enhancers	HMEC	breast
47	chr2:153288000-153289600	Enhancers	Osteobl	bone
48	chr2:153288000-153290200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr2:153288000-153291200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr2:153288000-153291400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain

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