Variant report

Variant	rs61392982
Chromosome Location	chr2:111527655-111527656
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:111523805..111526448-chr2:111526979..111529518,2	K562	blood:
2	chr2:111526760..111529592-chr2:111563250..111564770,2	K562	blood:
3	chr2:111521418..111524009-chr2:111524992..111527705,2	K562	blood:

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs55693530	0.85[AFR][1000 genomes]
rs56019085	0.94[AFR][1000 genomes]
rs57166069	0.85[AFR][1000 genomes]
rs57431143	0.94[AFR][1000 genomes]
rs58130587	0.94[AFR][1000 genomes]
rs59952084	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61124407	0.94[AFR][1000 genomes]
rs61203060	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73954672	0.85[AFR][1000 genomes]
rs73956432	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73956434	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73956436	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73956437	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73956438	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73956439	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73956441	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73956450	0.82[AFR][1000 genomes]
rs73956451	0.82[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv874838	chr2:111376870-112046226	Weak transcription Strong transcription ZNF genes & repeats Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv874839	chr2:111400934-111868010	Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv1008758	chr2:111415136-111626467	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv535890	chr2:111415136-111626467	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv997829	chr2:111486961-111780537	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:111524800-111528000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr2:111525000-111531600	Enhancers	H1 Cell Line	embryonic stem cell
3	chr2:111525200-111531000	Weak transcription	Lung	lung
4	chr2:111525800-111530000	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr2:111526400-111528000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr2:111526400-111528400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr2:111526600-111527800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr2:111526600-111527800	Weak transcription	Fetal Lung	lung
9	chr2:111526800-111527800	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr2:111527400-111527800	Enhancers	Brain Germinal Matrix	brain
11	chr2:111527400-111528200	Enhancers	Fetal Brain Male	brain
12	chr2:111527400-111529800	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr2:111527400-111531800	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr2:111527600-111527800	Enhancers	Fetal Brain Female	brain
15	chr2:111527600-111527800	Enhancers	Skeletal Muscle Male	skeletal muscle
16	chr2:111527600-111527800	Enhancers	Skeletal Muscle Female	skeletal muscle
17	chr2:111527600-111528000	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
18	chr2:111527600-111528000	Bivalent Enhancer	Brain Cingulate Gyrus	brain
19	chr2:111527600-111528000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
20	chr2:111527600-111528200	Genic enhancers	HUES48 Cell Line	embryonic stem cell
21	chr2:111527600-111528200	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr2:111527600-111528200	Bivalent Enhancer	Fetal Stomach	stomach
23	chr2:111527600-111528200	Enhancers	Right Atrium	heart
24	chr2:111527600-111528400	Bivalent Enhancer	Fetal Muscle Leg	muscle
25	chr2:111527600-111528600	Enhancers	Fetal Heart	heart
26	chr2:111527600-111530200	Enhancers	Right Ventricle	heart
27	chr2:111527600-111530400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr2:111527600-111530400	Enhancers	Left Ventricle	heart
29	chr2:111527600-111531200	Enhancers	H9 Cell Line	embryonic stem cell
30	chr2:111527600-111531200	Enhancers	iPS-15b Cell Line	embryonic stem cell
31	chr2:111527600-111531600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr2:111527600-111531600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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