Variant report

Variant	rs62183970
Chromosome Location	chr2:149119944-149119945
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10497033	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12105632	0.84[ASN][1000 genomes]
rs12467297	0.90[AFR][1000 genomes];0.80[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs13419981	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16828574	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs59484792	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62183967	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1009608	chr2:148897348-149133718	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	esv2753542	chr2:149004714-149268503	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv1012275	chr2:149031668-149316793	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv1012123	chr2:149078500-149151358	Enhancers Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
5	nsv583289	chr2:149091754-149170115	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
6	nsv875277	chr2:149094415-149178974	Enhancers Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
7	nsv875278	chr2:149094415-149201775	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
8	nsv875279	chr2:149111470-149201775	Enhancers ZNF genes & repeats Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
9	nsv875280	chr2:149115432-149198275	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
10	nsv875281	chr2:149115432-149206943	ZNF genes & repeats Enhancers Bivalent Enhancer Weak transcription Strong transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
11	nsv583290	chr2:149117734-149170115	ZNF genes & repeats Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:149096800-149120800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr2:149100800-149137000	Weak transcription	Primary T cells from cord blood	blood
3	chr2:149101000-149126000	Weak transcription	Psoas Muscle	Psoas
4	chr2:149102800-149136600	Weak transcription	Primary B cells from cord blood	blood
5	chr2:149116200-149121800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr2:149118400-149120200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr2:149119000-149120000	Enhancers	HepG2	liver
8	chr2:149119000-149121400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr2:149119000-149121800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr2:149119400-149120000	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr2:149119400-149120200	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr2:149119400-149120200	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr2:149119400-149120200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr2:149119400-149120200	Strong transcription	Fetal Intestine Small	intestine
15	chr2:149119400-149120400	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr2:149119400-149120400	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr2:149119400-149120400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr2:149119600-149120000	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr2:149119600-149120200	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
20	chr2:149119800-149120200	Enhancers	HUES64 Cell Line	embryonic stem cell
21	chr2:149119800-149120200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
22	chr2:149119800-149120400	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
23	chr2:149119800-149120400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr2:149119800-149120400	Weak transcription	Fetal Muscle Trunk	muscle
25	chr2:149119800-149120400	ZNF genes & repeats	Fetal Stomach	stomach

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