Variant report

Variant	rs1559114
Chromosome Location	chr5:179772640-179772641
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:179771173..179772905-chr5:179777611..179780559,4	MCF-7	breast:
2	chr5:179770572..179772662-chr5:179890635..179892698,2	MCF-7	breast:
3	chr5:179767711..179769306-chr5:179771543..179774256,2	K562	blood:
4	chr5:179772488..179776798-chr5:179777928..179781659,4	K562	blood:
5	chr5:179771513..179773168-chr5:179773913..179776480,2	K562	blood:
6	chr5:179769960..179774834-chr5:179776858..179780892,7	MCF-7	breast:

Variant related genes	Relation type
ENSG00000131459	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs1078646	0.95[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17080196	0.88[CHB][hapmap];1.00[CHD][hapmap];0.84[JPT][hapmap];0.90[ASN][1000 genomes]
rs17080199	0.88[CHB][hapmap];1.00[CHD][hapmap];0.92[JPT][hapmap];0.95[ASN][1000 genomes]
rs2303012	0.87[CHB][hapmap];0.81[JPT][hapmap];0.90[ASN][1000 genomes]
rs34236296	0.82[AFR][1000 genomes]
rs34253331	0.82[AFR][1000 genomes]
rs34778234	0.83[AFR][1000 genomes]
rs4235511	0.86[ASW][hapmap];1.00[CEU][hapmap];0.94[CHB][hapmap];0.97[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.87[LWK][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];0.86[TSI][hapmap];0.94[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4566752	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4627952	0.88[AFR][1000 genomes]
rs4700736	0.86[ASW][hapmap];1.00[CEU][hapmap];0.94[CHB][hapmap];0.97[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.87[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];0.94[TSI][hapmap];0.94[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4700943	0.90[ASN][1000 genomes]
rs62404950	0.90[ASN][1000 genomes]
rs62404953	0.99[ASN][1000 genomes]
rs62404956	0.99[ASN][1000 genomes]
rs62404958	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62404959	0.89[AFR][1000 genomes];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62406364	0.91[ASN][1000 genomes]
rs6601110	0.95[CEU][hapmap];0.88[CHB][hapmap];0.84[JPT][hapmap];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6859159	0.88[CHB][hapmap];1.00[CHD][hapmap];0.84[JPT][hapmap];0.90[ASN][1000 genomes]
rs6864729	0.86[CHB][hapmap];0.91[JPT][hapmap];0.90[ASN][1000 genomes]
rs6870028	0.90[ASN][1000 genomes]
rs6871454	0.89[ASN][1000 genomes]
rs6874176	0.90[ASN][1000 genomes]
rs6884276	0.91[ASN][1000 genomes]
rs6899097	0.93[ASN][1000 genomes]
rs72811045	0.90[ASN][1000 genomes]
rs72811049	0.90[ASN][1000 genomes]
rs9686940	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9687074	0.82[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948909	chr5:179249099-179772640	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	175 gene(s)	inside rSNPs	diseases
2	nsv1033706	chr5:179402769-179806356	Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	165 gene(s)	inside rSNPs	diseases
3	nsv1023914	chr5:179649883-180040672	Weak transcription Enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv537983	chr5:179649883-180040672	Strong transcription ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
5	nsv1030697	chr5:179710469-180686563	ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Genic enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	184 gene(s)	inside rSNPs	diseases
6	nsv883290	chr5:179712060-179818868	Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Weak transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
7	nsv830563	chr5:179717693-179898609	Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Genic enhancers Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
8	nsv1026417	chr5:179721376-180291360	Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
9	nsv1031836	chr5:179742033-180676122	Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	177 gene(s)	inside rSNPs	diseases
10	nsv537984	chr5:179742033-180676122	Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	177 gene(s)	inside rSNPs	diseases
11	nsv949199	chr5:179743553-180696889	Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	182 gene(s)	inside rSNPs	diseases
12	nsv883291	chr5:179755559-179818868	Genic enhancers Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
13	nsv984575	chr5:179759624-179791220	Weak transcription Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1559114	FAM193B	cis	cerebellum	SCAN

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:179757000-179779000	Weak transcription	Esophagus	oesophagus
2	chr5:179764000-179778800	Weak transcription	Pancreas	Pancrea
3	chr5:179765000-179775000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr5:179768800-179775400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr5:179770000-179775600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr5:179770400-179777000	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr5:179770400-179779000	Weak transcription	Gastric	stomach
8	chr5:179770600-179772800	Weak transcription	Right Ventricle	heart
9	chr5:179770600-179774600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr5:179770600-179778600	Weak transcription	Right Atrium	heart
11	chr5:179771000-179775600	Enhancers	H1 Cell Line	embryonic stem cell
12	chr5:179771200-179772800	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr5:179771200-179772800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr5:179771200-179772800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr5:179771200-179773000	Enhancers	HUES64 Cell Line	embryonic stem cell
16	chr5:179771200-179773600	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr5:179771200-179777400	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr5:179771200-179778600	Weak transcription	Lung	lung
19	chr5:179771400-179773800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr5:179771400-179777400	Weak transcription	HSMMtube	muscle
21	chr5:179771600-179772800	Enhancers	H9 Cell Line	embryonic stem cell
22	chr5:179771600-179774000	Enhancers	iPS-20b Cell Line	embryonic stem cell
23	chr5:179771600-179774200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr5:179771600-179774600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr5:179771600-179774600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr5:179771600-179774800	Enhancers	iPS-18 Cell Line	embryonic stem cell
27	chr5:179771600-179775000	Weak transcription	Adipose Nuclei	Adipose
28	chr5:179771600-179775800	Enhancers	HUES48 Cell Line	embryonic stem cell
29	chr5:179771600-179777000	Weak transcription	Brain Substantia Nigra	brain
30	chr5:179771600-179777000	Weak transcription	Ovary	ovary
31	chr5:179771600-179777800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr5:179771600-179778400	Weak transcription	HSMM	muscle
33	chr5:179771600-179778600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr5:179771600-179778600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr5:179771800-179773200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr5:179771800-179773400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr5:179771800-179774600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr5:179771800-179776800	Weak transcription	Brain Angular Gyrus	brain
39	chr5:179771800-179777000	Weak transcription	Left Ventricle	heart
40	chr5:179771800-179777400	Weak transcription	Brain Cingulate Gyrus	brain
41	chr5:179771800-179777400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
42	chr5:179771800-179777600	Weak transcription	Muscle Satellite Cultured Cells	--
43	chr5:179771800-179777600	Weak transcription	Osteobl	bone
44	chr5:179771800-179778400	Weak transcription	Hela-S3	cervix
45	chr5:179771800-179778600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr5:179772000-179774600	Genic enhancers	HUES6 Cell Line	embryonic stem cell
47	chr5:179772000-179774600	Weak transcription	NH-A	brain
48	chr5:179772000-179777000	Weak transcription	Brain Hippocampus Middle	brain
49	chr5:179772000-179777000	Weak transcription	A549	lung
50	chr5:179772000-179777200	Weak transcription	Brain Inferior Temporal Lobe	brain

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