Variant report

Variant	rs16868988
Chromosome Location	chr8:103076471-103076472
allele	A/G
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]
rs16869047	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs16869057	0.91[CHB][hapmap];0.83[ASN][1000 genomes]
rs16869064	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs16869074	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs16869080	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2186683	0.92[CHB][hapmap];0.83[ASN][1000 genomes]
rs55694001	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs55888515	0.84[ASN][1000 genomes]
rs55968485	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs55978100	0.84[ASN][1000 genomes]
rs56054038	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs56338552	0.83[ASN][1000 genomes]
rs56403816	0.84[ASN][1000 genomes]
rs59050929	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6995106	0.92[CHB][hapmap];0.84[ASN][1000 genomes]
rs7002572	0.81[ASN][1000 genomes]
rs72507592	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7830150	0.92[CHB][hapmap];0.83[ASN][1000 genomes]
rs9642976	0.81[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	nsv831411	chr8:102937991-103108140	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:103065400-103085800	Weak transcription	Primary T cells from cord blood	blood
2	chr8:103072400-103077800	Enhancers	Fetal Muscle Leg	muscle
3	chr8:103072600-103078000	Enhancers	Fetal Brain Male	brain
4	chr8:103073000-103077200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr8:103073400-103077400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr8:103073400-103077600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr8:103073400-103078200	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr8:103073400-103078400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr8:103073400-103079800	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr8:103073400-103079800	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr8:103073600-103078200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr8:103073600-103078600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr8:103073800-103077200	Enhancers	Ovary	ovary
14	chr8:103073800-103078400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr8:103075200-103077400	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr8:103075400-103077400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
17	chr8:103075600-103076800	Enhancers	Colon Smooth Muscle	Colon
18	chr8:103075600-103076800	Enhancers	Fetal Brain Female	brain
19	chr8:103075600-103077000	Enhancers	Psoas Muscle	Psoas
20	chr8:103075800-103076600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr8:103075800-103076600	Enhancers	NHDF-Ad	bronchial
22	chr8:103075800-103076800	Enhancers	Brain Cingulate Gyrus	brain
23	chr8:103075800-103076800	Enhancers	Skeletal Muscle Male	skeletal muscle
24	chr8:103075800-103077000	Enhancers	Skeletal Muscle Female	skeletal muscle
25	chr8:103075800-103077800	Enhancers	Left Ventricle	heart
26	chr8:103075800-103080600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr8:103076000-103076600	Enhancers	Brain Inferior Temporal Lobe	brain
28	chr8:103076000-103076600	Enhancers	Fetal Stomach	stomach
29	chr8:103076000-103077000	Enhancers	Lung	lung
30	chr8:103076000-103077000	Enhancers	Rectal Smooth Muscle	rectum
31	chr8:103076000-103077600	Enhancers	Fetal Heart	heart
32	chr8:103076200-103076600	Enhancers	Brain Hippocampus Middle	brain
33	chr8:103076200-103076600	Enhancers	HSMMtube	muscle
34	chr8:103076200-103076800	Enhancers	Brain Angular Gyrus	brain
35	chr8:103076200-103076800	Enhancers	Fetal Muscle Trunk	muscle
36	chr8:103076200-103077000	Enhancers	Aorta	Aorta
37	chr8:103076200-103077000	Flanking Active TSS	Stomach Smooth Muscle	stomach
38	chr8:103076200-103080600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr8:103076400-103076800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr8:103076400-103076800	Enhancers	Right Atrium	heart
41	chr8:103076400-103076800	Enhancers	Right Ventricle	heart
42	chr8:103076400-103079200	Enhancers	Placenta	Placenta

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