Variant report

Variant	rs17414857
Chromosome Location	chr8:103070301-103070302
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs17414701	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1984341	0.83[GIH][hapmap]
rs9656851	0.82[ASW][hapmap];0.82[YRI][hapmap]

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	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	nsv891231	chr8:103001914-103076379	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	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
4	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
5	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
6	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
7	nsv891236	chr8:103039917-103070301	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	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
9	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
10	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
11	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

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs17414857	RIMS2	cis	cerebellum	SCAN
rs17414857	NACAP1	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:103053800-103072600	Weak transcription	Aorta	Aorta
2	chr8:103064800-103070800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr8:103065400-103072600	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr8:103065400-103072800	Weak transcription	Right Ventricle	heart
5	chr8:103065400-103085800	Weak transcription	Primary T cells from cord blood	blood
6	chr8:103065800-103072800	Weak transcription	Right Atrium	heart
7	chr8:103066000-103075800	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr8:103066000-103076200	Weak transcription	HSMMtube	muscle
9	chr8:103066200-103072400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr8:103066600-103072600	Weak transcription	Fetal Brain Female	brain
11	chr8:103067200-103070400	Enhancers	Fetal Heart	heart
12	chr8:103067400-103072600	Weak transcription	Lung	lung
13	chr8:103067600-103072600	Weak transcription	Fetal Brain Male	brain
14	chr8:103068800-103071800	Enhancers	Ovary	ovary
15	chr8:103069200-103070600	Enhancers	Rectal Smooth Muscle	rectum
16	chr8:103069200-103072600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr8:103069200-103072600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr8:103069400-103070800	Enhancers	Colon Smooth Muscle	Colon
19	chr8:103069400-103071000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr8:103069400-103072600	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr8:103069400-103072800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
22	chr8:103069400-103073000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr8:103069400-103075000	Weak transcription	Psoas Muscle	Psoas
24	chr8:103069400-103075800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr8:103069600-103072400	Weak transcription	Fetal Muscle Leg	muscle
26	chr8:103069600-103072600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr8:103069600-103072600	Weak transcription	Left Ventricle	heart
28	chr8:103069600-103072600	Weak transcription	Skeletal Muscle Female	skeletal muscle
29	chr8:103069800-103072600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr8:103070200-103070400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr8:103070200-103070400	Enhancers	Stomach Smooth Muscle	stomach
32	chr8:103070200-103072600	Weak transcription	HUES48 Cell Line	embryonic stem cell

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