Variant report

Variant	rs59424516
Chromosome Location	chr8:35606821-35606822
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs55939700	0.84[AFR][1000 genomes]
rs55941225	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56114419	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56274851	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56385636	0.84[AFR][1000 genomes]
rs56770122	1.00[AMR][1000 genomes]
rs56808431	1.00[AMR][1000 genomes]
rs56860408	0.85[AMR][1000 genomes]
rs57176697	1.00[AMR][1000 genomes]
rs57529054	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57718380	1.00[AMR][1000 genomes]
rs58468407	0.85[AMR][1000 genomes]
rs58638685	0.82[AFR][1000 genomes]
rs59081997	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59087360	0.84[AFR][1000 genomes]
rs59650242	1.00[AMR][1000 genomes]
rs60045242	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60148169	0.89[AFR][1000 genomes]
rs60257165	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60455013	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60855337	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61067704	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61113233	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61397641	0.83[AMR][1000 genomes]
rs61520251	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73576270	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73578265	0.85[AMR][1000 genomes]
rs73578267	0.85[AMR][1000 genomes]
rs73578270	0.85[AMR][1000 genomes]
rs73578285	0.85[AMR][1000 genomes]
rs73582210	1.00[AMR][1000 genomes]
rs73584129	1.00[AMR][1000 genomes]
rs73584131	1.00[AMR][1000 genomes]
rs73584169	1.00[AMR][1000 genomes]
rs73584182	1.00[AMR][1000 genomes]
rs73584827	0.84[AFR][1000 genomes]
rs73584830	0.84[AFR][1000 genomes]
rs73584868	0.89[AFR][1000 genomes]
rs73584872	0.89[AFR][1000 genomes]
rs73584880	0.89[AFR][1000 genomes]
rs73586705	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73586711	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs73586719	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73671916	0.86[AFR][1000 genomes]
rs73673924	0.85[AMR][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	nsv533420	chr8:35358115-36227536	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv831285	chr8:35485874-35648117	Weak transcription Enhancers Strong transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	esv2754662	chr8:35558658-35648958	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv1032540	chr8:35565491-35949132	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:35576000-35631600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr8:35582000-35640600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr8:35591400-35608000	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr8:35591600-35611800	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr8:35591800-35608000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr8:35591800-35611200	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr8:35591800-35611800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr8:35595200-35609400	Weak transcription	Fetal Kidney	kidney
9	chr8:35597800-35612200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr8:35598800-35608000	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr8:35598800-35611400	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr8:35598800-35611800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr8:35600400-35609800	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr8:35603200-35607200	Enhancers	Fetal Brain Male	brain
15	chr8:35603200-35624800	Weak transcription	Duodenum Mucosa	Duodenum
16	chr8:35604200-35608200	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr8:35606400-35607000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr8:35606400-35607000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
19	chr8:35606600-35607400	Enhancers	Fetal Brain Female	brain
20	chr8:35606600-35607400	Enhancers	Fetal Heart	heart
21	chr8:35606600-35610400	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr8:35606800-35607000	Enhancers	Fetal Muscle Leg	muscle
23	chr8:35606800-35608000	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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