Variant report

Variant	rs35212551
Chromosome Location	chr1:155445842-155445843
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:155444057..155446156-chr1:155448609..155450832,2	K562	blood:
2	chr1:155444793..155446300-chr1:155452927..155455917,2	MCF-7	breast:
3	chr1:155430681..155432284-chr1:155445410..155448116,2	MCF-7	breast:
4	chr1:155444656..155447822-chr1:155448609..155452237,3	K562	blood:
5	chr1:155444626..155447232-chr1:155532733..155534954,2	MCF-7	breast:

Extended variants
information (count: 16 )
Associated
traits (count: 7 )

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

rs_ID	r²[population]
rs12730906	1.00[CEU][hapmap];1.00[JPT][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2039398	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34201109	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34228238	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35264597	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36035038	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71517783	0.80[EUR][1000 genomes]
rs71628683	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529709	chr1:155154933-155757219	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	450 gene(s)	inside rSNPs	diseases
2	esv33869	chr1:155223283-155917961	Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	187 gene(s)	inside rSNPs	diseases
3	esv1799856	chr1:155305059-155534616	Enhancers Weak transcription Genic enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
4	esv1795662	chr1:155305059-155540660	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
5	esv1795478	chr1:155334933-155510824	Genic enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	esv1803551	chr1:155334933-155522572	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
7	esv1800974	chr1:155367680-155510824	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
8	nsv872468	chr1:155413304-155549562	Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs35212551	FAM63A	cis	parietal	SCAN
rs35212551	INTS3	cis	parietal	SCAN
rs35212551	YY1AP1	cis	parietal	SCAN
rs35212551	DAP3	cis	cerebellum	SCAN
rs35212551	PRUNE	cis	cerebellum	SCAN
rs35212551	YY1AP1	cis	cerebellum	SCAN
rs35212551	GBA	cis	Esophagus Mucosa	GTEx

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:155364400-155450800	Weak transcription	HUVEC	blood vessel
2	chr1:155408600-155448400	Weak transcription	Fetal Brain Female	brain
3	chr1:155408800-155447600	Weak transcription	Aorta	Aorta
4	chr1:155421800-155447800	Weak transcription	Lung	lung
5	chr1:155424600-155462600	Weak transcription	Pancreas	Pancrea
6	chr1:155426400-155448000	Weak transcription	Rectal Smooth Muscle	rectum
7	chr1:155426400-155455800	Weak transcription	Stomach Mucosa	stomach
8	chr1:155428600-155451600	Weak transcription	Gastric	stomach
9	chr1:155430400-155448200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr1:155437200-155447600	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr1:155437200-155448200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr1:155437400-155450600	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr1:155437400-155451400	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr1:155437600-155446600	Weak transcription	HSMM	muscle
15	chr1:155437600-155447800	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr1:155437600-155448000	Weak transcription	HSMMtube	muscle
17	chr1:155437800-155447800	Weak transcription	NH-A	brain
18	chr1:155437800-155449200	Weak transcription	NHLF	lung
19	chr1:155439800-155449000	Weak transcription	Fetal Kidney	kidney
20	chr1:155441200-155447000	Enhancers	Brain Substantia Nigra	brain
21	chr1:155441400-155447600	Weak transcription	Fetal Muscle Leg	muscle
22	chr1:155441400-155451600	Weak transcription	Colon Smooth Muscle	Colon
23	chr1:155441400-155463600	Weak transcription	Fetal Heart	heart
24	chr1:155441600-155447600	Weak transcription	Hela-S3	cervix
25	chr1:155441600-155447600	Weak transcription	NHEK	skin
26	chr1:155441600-155448200	Weak transcription	Fetal Lung	lung
27	chr1:155441600-155448200	Weak transcription	Stomach Smooth Muscle	stomach
28	chr1:155441600-155449200	Weak transcription	HMEC	breast
29	chr1:155441600-155449400	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr1:155441600-155449800	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr1:155441600-155460200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr1:155441600-155460400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr1:155441800-155447600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr1:155441800-155448000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr1:155441800-155449600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
36	chr1:155442000-155446800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr1:155442000-155447600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
38	chr1:155442000-155447600	Weak transcription	Left Ventricle	heart
39	chr1:155442000-155447600	Weak transcription	Spleen	Spleen
40	chr1:155442000-155447800	Weak transcription	Fetal Intestine Large	intestine
41	chr1:155442000-155447800	Weak transcription	Rectal Mucosa Donor 29	rectum
42	chr1:155442000-155449800	Weak transcription	Sigmoid Colon	Sigmoid Colon
43	chr1:155442000-155451400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr1:155442000-155451400	Weak transcription	Ovary	ovary
45	chr1:155442200-155447600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr1:155442200-155447600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr1:155442200-155447800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr1:155442200-155447800	Weak transcription	Fetal Muscle Trunk	muscle
49	chr1:155442200-155447800	Weak transcription	Psoas Muscle	Psoas
50	chr1:155442200-155447800	Weak transcription	Thymus	Thymus

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