Variant report

Variant	rs12052471
Chromosome Location	chr2:10316084-10316085
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	chr2:10311566..10313814-chr2:10315451..10318799,4	K562	blood:

Extended variants
information (count: 26 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10929636	0.85[EUR][1000 genomes]
rs10929637	0.85[EUR][1000 genomes]
rs12476357	0.82[EUR][1000 genomes]
rs12476973	0.85[EUR][1000 genomes]
rs12478825	0.84[EUR][1000 genomes]
rs12621801	0.84[EUR][1000 genomes]
rs13004758	0.86[EUR][1000 genomes]
rs13030003	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17313689	0.94[ASN][1000 genomes]
rs17313696	0.94[ASN][1000 genomes]
rs34050830	0.86[EUR][1000 genomes]
rs34277496	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35110249	0.94[ASN][1000 genomes]
rs4669539	0.87[ASN][1000 genomes]
rs4669540	0.88[ASN][1000 genomes]
rs4669541	0.87[ASN][1000 genomes]
rs4669542	0.87[ASN][1000 genomes]
rs4669543	0.87[ASN][1000 genomes]
rs4669548	0.86[EUR][1000 genomes]
rs56332560	0.86[EUR][1000 genomes]
rs62129922	0.85[EUR][1000 genomes]
rs62129925	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6738180	0.92[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	nsv873634	chr2:10275814-10337034	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA	11 gene(s)	inside rSNPs	diseases
2	nsv873635	chr2:10286466-10344465	Weak transcription Bivalent Enhancer Enhancers Genic enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
3	nsv873636	chr2:10300390-10331919	Strong transcription Weak transcription Genic enhancers Enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Active TSS	Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:10273800-10330400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr2:10277600-10321600	Weak transcription	K562	blood
3	chr2:10282200-10316600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr2:10286400-10331400	Weak transcription	Spleen	Spleen
5	chr2:10290200-10351400	Strong transcription	Dnd41	blood
6	chr2:10302400-10337600	Weak transcription	Duodenum Mucosa	Duodenum
7	chr2:10304400-10339800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr2:10308200-10324600	Weak transcription	Fetal Lung	lung
9	chr2:10310800-10318600	Weak transcription	Fetal Intestine Small	intestine
10	chr2:10310800-10318800	Weak transcription	A549	lung
11	chr2:10311000-10320000	Weak transcription	Fetal Muscle Leg	muscle
12	chr2:10311400-10317000	Strong transcription	Fetal Thymus	thymus
13	chr2:10311800-10331200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr2:10311800-10337000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr2:10312000-10319000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr2:10312800-10326800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr2:10313000-10320000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr2:10313000-10320000	Weak transcription	Fetal Muscle Trunk	muscle
19	chr2:10313000-10321000	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr2:10313000-10327000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr2:10313000-10344400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr2:10313200-10320800	Weak transcription	Fetal Stomach	stomach
23	chr2:10313200-10327400	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr2:10313400-10319000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr2:10313800-10320000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
26	chr2:10314000-10340400	Weak transcription	HepG2	liver
27	chr2:10314400-10320400	Weak transcription	Primary monocytes fromperipheralblood	blood
28	chr2:10314600-10318600	Weak transcription	Thymus	Thymus
29	chr2:10314600-10318800	Weak transcription	Primary neutrophils fromperipheralblood	blood
30	chr2:10315600-10318600	Weak transcription	Monocytes-CD14+_RO01746	blood
31	chr2:10315800-10317800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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