Variant report

Variant	rs59050929
Chromosome Location	chr8:103108554-103108555
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs16868988	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs16869047	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16869057	0.99[ASN][1000 genomes]
rs16869064	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16869074	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16869080	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2186683	0.99[ASN][1000 genomes]
rs55694001	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55888515	1.00[ASN][1000 genomes]
rs55968485	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55978100	0.94[ASN][1000 genomes]
rs56054038	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56338552	0.99[ASN][1000 genomes]
rs56403816	1.00[ASN][1000 genomes]
rs6995106	1.00[ASN][1000 genomes]
rs7002572	0.97[ASN][1000 genomes]
rs72507592	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7830150	0.99[ASN][1000 genomes]
rs9642976	0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv891232	chr8:103001914-103138045	Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
2	nsv891233	chr8:103001914-103162638	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
3	nsv891234	chr8:103020391-103113701	Flanking Active TSS Enhancers Weak transcription Genic enhancers ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv891235	chr8:103032394-103162638	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
5	nsv891237	chr8:103039917-103113701	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	nsv891238	chr8:103055520-103116959	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv891239	chr8:103056517-103162638	Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
8	nsv891240	chr8:103070301-103162638	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
9	esv2754264	chr8:103070824-103170824	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
10	nsv891241	chr8:103079505-103162638	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:103104600-103108600	Enhancers	Rectal Mucosa Donor 31	rectum
2	chr8:103104600-103112600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr8:103104800-103118800	Weak transcription	Primary hematopoietic stem cells	blood
4	chr8:103105400-103108800	Weak transcription	Left Ventricle	heart
5	chr8:103106000-103117600	Weak transcription	Fetal Heart	heart
6	chr8:103106600-103109200	Enhancers	Sigmoid Colon	Sigmoid Colon
7	chr8:103106600-103111400	Enhancers	Primary T helper cells PMA-I stimulated	--
8	chr8:103107000-103111200	Enhancers	Primary T cells fromperipheralblood	blood
9	chr8:103107000-103111600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
10	chr8:103107200-103108800	Enhancers	Stomach Mucosa	stomach
11	chr8:103107200-103110800	Enhancers	Primary T helper naive cells from peripheral blood	blood
12	chr8:103107200-103111200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
13	chr8:103107200-103111400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
14	chr8:103107400-103108600	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr8:103107400-103108600	Enhancers	Psoas Muscle	Psoas
16	chr8:103107400-103108800	Enhancers	Small Intestine	intestine
17	chr8:103107400-103110800	Enhancers	Primary T killer memory cells from peripheral blood	blood
18	chr8:103107400-103111200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
19	chr8:103107600-103108600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr8:103107600-103114400	Weak transcription	Fetal Muscle Leg	muscle
21	chr8:103107800-103109800	Weak transcription	Ovary	ovary
22	chr8:103108000-103108600	Enhancers	Lung	lung
23	chr8:103108200-103108600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
24	chr8:103108200-103108600	Active TSS	Rectal Mucosa Donor 29	rectum
25	chr8:103108200-103108600	Enhancers	Skeletal Muscle Male	skeletal muscle
26	chr8:103108200-103108800	Flanking Active TSS	GM12878-XiMat	blood
27	chr8:103108200-103109000	Flanking Active TSS	Duodenum Mucosa	Duodenum
28	chr8:103108200-103109600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr8:103108200-103109800	Enhancers	Aorta	Aorta
30	chr8:103108200-103110200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
31	chr8:103108400-103108600	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr8:103108400-103109000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
33	chr8:103108400-103110600	Enhancers	Primary T cells from cord blood	blood
34	chr8:103108400-103118800	Weak transcription	Stomach Smooth Muscle	stomach
35	chr8:103108400-103120000	Weak transcription	Gastric	stomach

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