Variant report

Variant	rs330
Chromosome Location	chr8:19820396-19820397
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:19796366..19798853-chr8:19819344..19821479,2	K562	blood:
2	chr8:19811879..19814750-chr8:19820326..19823164,2	K562	blood:
3	chr8:19820325..19822189-chr8:19825271..19827083,2	K562	blood:

Variant related genes	Relation type
ENSG00000175445	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs1059507	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11570892	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1372339	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1372345	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1441765	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1441777	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1561750	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1596102	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17091872	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17411294	0.82[ASN][1000 genomes]
rs17489518	0.82[ASN][1000 genomes]
rs2410616	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2410617	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2410626	0.86[ASN][1000 genomes]
rs2898494	0.86[ASN][1000 genomes]
rs294	0.98[ASN][1000 genomes]
rs303	0.98[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs310	0.98[ASN][1000 genomes]
rs312	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs316	1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs34716293	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34770253	0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs35815571	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3866471	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4403423	0.82[ASN][1000 genomes]
rs4921683	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4921684	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4922115	0.81[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.91[GIH][hapmap];0.86[JPT][hapmap];0.86[LWK][hapmap];0.92[MEX][hapmap];0.97[MKK][hapmap];0.91[TSI][hapmap];0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4922116	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv610759	chr8:19561997-20068842	Enhancers Strong transcription Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv498082	chr8:19722435-19873112	Bivalent Enhancer Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
3	esv32767	chr8:19740189-19873082	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
4	nsv1033511	chr8:19751299-20625091	Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	nsv890632	chr8:19816371-19853146	Weak transcription Genic enhancers Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs330	FAM160B2	cis	parietal	SCAN

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:19798600-19824200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr8:19800800-19823000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr8:19805000-19824800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr8:19805800-19824600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr8:19811800-19822400	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr8:19811800-19826000	Weak transcription	Brain Germinal Matrix	brain
7	chr8:19813600-19823000	Weak transcription	Fetal Brain Male	brain
8	chr8:19814200-19821600	Weak transcription	Fetal Brain Female	brain
9	chr8:19814800-19822800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr8:19817000-19824800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr8:19818400-19820400	Strong transcription	Cortex derived primary cultured neurospheres	brain
12	chr8:19818400-19822800	Strong transcription	Fetal Lung	lung
13	chr8:19819000-19820600	Genic enhancers	Fetal Heart	heart
14	chr8:19819200-19820400	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr8:19819200-19820400	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr8:19819200-19820600	Genic enhancers	Adipose Nuclei	Adipose
17	chr8:19819200-19820800	Enhancers	Skeletal Muscle Female	skeletal muscle
18	chr8:19819200-19821000	Enhancers	Primary monocytes fromperipheralblood	blood
19	chr8:19819400-19820400	Enhancers	iPS-18 Cell Line	embryonic stem cell
20	chr8:19819400-19820400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr8:19819400-19820400	Enhancers	Brain Anterior Caudate	brain
22	chr8:19819400-19820600	Enhancers	Primary B cells from peripheral blood	blood
23	chr8:19819400-19820600	Enhancers	Primary hematopoietic stem cells short term culture	blood
24	chr8:19819400-19820600	Strong transcription	Ovary	ovary
25	chr8:19819400-19820800	Enhancers	H9 Cell Line	embryonic stem cell
26	chr8:19819600-19820400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr8:19819600-19820400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
28	chr8:19819600-19820600	Enhancers	Primary B cells from cord blood	blood
29	chr8:19819600-19820600	Enhancers	Primary hematopoietic stem cells	blood
30	chr8:19819600-19820600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr8:19819600-19822200	Strong transcription	Right Ventricle	heart
32	chr8:19819800-19820400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr8:19819800-19820600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr8:19819800-19820600	Enhancers	Placenta	Placenta
35	chr8:19820000-19820600	Enhancers	Psoas Muscle	Psoas
36	chr8:19820000-19822000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
37	chr8:19820000-19822200	Weak transcription	H1 Cell Line	embryonic stem cell
38	chr8:19820000-19822600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr8:19820000-19823600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr8:19820200-19820400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr8:19820200-19820600	Strong transcription	Lung	lung
42	chr8:19820200-19821000	Enhancers	Skeletal Muscle Male	skeletal muscle
43	chr8:19820200-19822000	Weak transcription	HUES64 Cell Line	embryonic stem cell
44	chr8:19820200-19824000	Strong transcription	Left Ventricle	heart

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