Variant report

Variant	rs633695
Chromosome Location	chr15:58725839-58725840
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11635491	0.81[TSI][hapmap]
rs261334	0.82[CEU][hapmap]
rs261341	0.95[CEU][hapmap];0.88[GIH][hapmap]
rs4774297	0.80[JPT][hapmap]
rs588136	0.82[CEU][hapmap]
rs7170361	0.80[MEX][hapmap];0.84[EUR][1000 genomes]
rs8033940	0.91[CEU][hapmap];0.94[CHB][hapmap];0.91[EUR][1000 genomes]
rs8034802	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];0.95[JPT][hapmap];0.96[MEX][hapmap];0.80[MKK][hapmap];0.97[TSI][hapmap];0.85[YRI][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]

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	nsv1051058	chr15:58519922-59092530	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv542401	chr15:58519922-59092530	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv529717	chr15:58519923-58756814	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv1042201	chr15:58520746-58780710	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	nsv569598	chr15:58552606-58852463	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
6	nsv904267	chr15:58699010-58769583	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv1047048	chr15:58701400-58784800	Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	esv3362898	chr15:58705732-58850860	ZNF genes & repeats Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent Enhancer Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
9	esv2760372	chr15:58721447-58731153	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
10	esv2761874	chr15:58724371-58730571	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
11	nsv524065	chr15:58725839-58730889	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs633695	FAM63B	cis	cerebellum	SCAN
rs633695	RFX7	cis	parietal	SCAN

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:58704600-58728800	Weak transcription	Thymus	Thymus
2	chr15:58716600-58726600	Weak transcription	Esophagus	oesophagus
3	chr15:58718400-58726600	Weak transcription	Stomach Mucosa	stomach
4	chr15:58722600-58731000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr15:58724200-58726400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr15:58724200-58727000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr15:58724200-58727200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr15:58724400-58726200	Weak transcription	Fetal Thymus	thymus
9	chr15:58724400-58726600	Enhancers	Adipose Nuclei	Adipose
10	chr15:58724400-58726800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr15:58724400-58726800	Enhancers	HSMMtube	muscle
12	chr15:58724600-58726200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr15:58724600-58731000	Weak transcription	Duodenum Mucosa	Duodenum
14	chr15:58724800-58726000	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr15:58724800-58726400	Enhancers	A549	lung
16	chr15:58724800-58731200	Weak transcription	NHDF-Ad	bronchial
17	chr15:58724800-58732600	Weak transcription	Psoas Muscle	Psoas
18	chr15:58725000-58726400	Enhancers	Hela-S3	cervix
19	chr15:58725000-58727200	Enhancers	Brain Hippocampus Middle	brain
20	chr15:58725000-58729200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr15:58725000-58730000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr15:58725000-58731000	Weak transcription	Fetal Intestine Large	intestine
23	chr15:58725000-58731000	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr15:58725200-58726600	Enhancers	Brain Cingulate Gyrus	brain
25	chr15:58725200-58729800	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr15:58725200-58732000	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr15:58725400-58726600	Weak transcription	Pancreatic Islets	Pancreatic Islet
28	chr15:58725400-58727200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr15:58725400-58727200	Flanking Active TSS	Liver	Liver
30	chr15:58725600-58726200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr15:58725600-58726200	Enhancers	Fetal Intestine Small	intestine
32	chr15:58725600-58726400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr15:58725600-58726400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr15:58725600-58726400	Enhancers	Brain Angular Gyrus	brain
35	chr15:58725600-58726400	Enhancers	Brain Anterior Caudate	brain
36	chr15:58725600-58726400	Enhancers	Brain Inferior Temporal Lobe	brain
37	chr15:58725600-58726600	Enhancers	iPS-18 Cell Line	embryonic stem cell
38	chr15:58725600-58726600	Enhancers	Brain Substantia Nigra	brain
39	chr15:58725600-58727200	Enhancers	Right Ventricle	heart
40	chr15:58725800-58726000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
41	chr15:58725800-58726000	Enhancers	Pancreas	Pancrea
42	chr15:58725800-58726000	Enhancers	Small Intestine	intestine
43	chr15:58725800-58726000	Enhancers	NH-A	brain
44	chr15:58725800-58726000	Enhancers	Osteobl	bone
45	chr15:58725800-58726200	Enhancers	iPS-20b Cell Line	embryonic stem cell
46	chr15:58725800-58726200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr15:58725800-58726200	Flanking Active TSS	HepG2	liver
48	chr15:58725800-58726400	Enhancers	H1 Cell Line	embryonic stem cell
49	chr15:58725800-58726400	Enhancers	iPS-15b Cell Line	embryonic stem cell
50	chr15:58725800-58726400	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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