Variant report

Variant	rs9694314
Chromosome Location	chr8:131381098-131381099
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:131303917..131305771-chr8:131379241..131381202,2	MCF-7	breast:
2	chr8:131381097..131383517-chr8:131384133..131386765,3	K562	blood:
3	chr8:131374605..131377133-chr8:131378600..131381227,2	K562	blood:
4	chr8:131380161..131384136-chr8:131384406..131387200,3	K562	blood:

Extended variants
information (count: 20 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs1340019	0.96[ASN][1000 genomes]
rs16893265	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes]
rs16904256	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2670876	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.81[EUR][1000 genomes]
rs2670881	1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs2670882	1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs2670886	1.00[JPT][hapmap]
rs2791339	1.00[JPT][hapmap]
rs2791346	0.82[CHB][hapmap];0.83[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.86[TSI][hapmap];0.96[ASN][1000 genomes]
rs2791354	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2994295	1.00[JPT][hapmap]
rs2994298	0.82[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs3924350	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4498576	0.85[JPT][hapmap]
rs4733570	1.00[JPT][hapmap]
rs7002892	0.83[LWK][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869334	chr8:131025093-131651487	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv915580	chr8:131025093-131667578	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv533085	chr8:131042781-131755007	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv612290	chr8:131370231-131381098	Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9694314	FAM84B	cis	parietal	SCAN

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:131371400-131382000	Weak transcription	Lung	lung
2	chr8:131371400-131391400	Weak transcription	Spleen	Spleen
3	chr8:131371600-131383800	Weak transcription	Ovary	ovary
4	chr8:131371600-131386800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr8:131371600-131389800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr8:131371600-131419800	Weak transcription	Aorta	Aorta
7	chr8:131371800-131382800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr8:131371800-131384400	Weak transcription	Brain Germinal Matrix	brain
9	chr8:131371800-131389800	Weak transcription	Fetal Stomach	stomach
10	chr8:131371800-131390800	Weak transcription	Stomach Smooth Muscle	stomach
11	chr8:131371800-131396400	Weak transcription	HepG2	liver
12	chr8:131371800-131398400	Weak transcription	Fetal Lung	lung
13	chr8:131373800-131382000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr8:131373800-131382400	Weak transcription	Fetal Muscle Trunk	muscle
15	chr8:131373800-131387400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr8:131373800-131389600	Weak transcription	Placenta	Placenta
17	chr8:131374600-131382000	Weak transcription	Fetal Muscle Leg	muscle
18	chr8:131374600-131384200	Weak transcription	Fetal Brain Male	brain
19	chr8:131374600-131390600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr8:131374600-131409000	Weak transcription	Fetal Brain Female	brain
21	chr8:131376400-131381200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr8:131376400-131381200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr8:131376600-131381200	Enhancers	Osteobl	bone
24	chr8:131377400-131390600	Weak transcription	Left Ventricle	heart
25	chr8:131377600-131382000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr8:131377600-131382400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr8:131377600-131382600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr8:131377600-131383600	Weak transcription	Right Atrium	heart
29	chr8:131378600-131382000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr8:131378800-131382000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr8:131378800-131382000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr8:131378800-131382200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr8:131378800-131387800	Weak transcription	HMEC	breast
34	chr8:131378800-131388000	Weak transcription	Hela-S3	cervix
35	chr8:131379000-131382000	Weak transcription	NHEK	skin
36	chr8:131379000-131382400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr8:131379000-131382600	Weak transcription	HUVEC	blood vessel
38	chr8:131379000-131384200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr8:131379000-131387800	Weak transcription	HSMM	muscle
40	chr8:131379200-131383800	Weak transcription	Adipose Nuclei	Adipose
41	chr8:131379600-131381400	Enhancers	NHDF-Ad	bronchial
42	chr8:131379800-131381200	Enhancers	H9 Cell Line	embryonic stem cell
43	chr8:131379800-131381200	Enhancers	iPS-18 Cell Line	embryonic stem cell
44	chr8:131379800-131381400	Enhancers	HUES48 Cell Line	embryonic stem cell
45	chr8:131379800-131383600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr8:131380200-131381200	Enhancers	Cortex derived primary cultured neurospheres	brain
47	chr8:131380200-131381200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr8:131380200-131383800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr8:131380400-131381400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr8:131380400-131388200	Weak transcription	NH-A	brain

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