Variant report

Variant	rs4623507
Chromosome Location	chr9:71392876-71392877
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:71379701..71382544-chr9:71392331..71394766,2	K562	blood:
2	chr9:71392572..71394227-chr9:71414871..71416644,2	K562	blood:
3	chr9:71320021..71321868-chr9:71392573..71394847,2	K562	blood:
4	chr9:71360620..71364939-chr9:71391141..71394857,5	K562	blood:
5	chr9:71392481..71394675-chr9:71428955..71431546,2	K562	blood:
6	chr9:71392487..71395427-chr9:71649569..71651600,2	K562	blood:
7	chr9:71316561..71319400-chr9:71390897..71393133,2	K562	blood:
8	chr9:71392687..71396802-chr9:71403243..71407898,5	MCF-7	breast:
9	chr9:71317900..71319915-chr9:71391633..71393560,2	K562	blood:
10	chr9:71390215..71393175-chr9:71408433..71409952,2	K562	blood:
11	chr9:71378628..71380884-chr9:71390829..71393225,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000236998	Chromatin interaction
ENSG00000165060	Chromatin interaction
ENSG00000107242	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10448338	0.85[CEU][hapmap]
rs10869320	0.82[MEX][hapmap]
rs11143608	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11143691	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11143697	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11143715	0.87[CEU][hapmap];0.82[EUR][1000 genomes]
rs11143731	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11143741	0.93[CEU][hapmap];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11143761	0.82[MEX][hapmap]
rs11143951	0.82[MEX][hapmap];0.91[MKK][hapmap]
rs11144027	1.00[ASN][1000 genomes]
rs11144136	0.82[MEX][hapmap]
rs11144178	0.82[MEX][hapmap]
rs11144206	0.82[MEX][hapmap]
rs11144305	0.82[MEX][hapmap]
rs11144351	0.82[MEX][hapmap]
rs12000088	1.00[ASN][1000 genomes]
rs12339235	0.87[CEU][hapmap];0.88[GIH][hapmap];0.85[MEX][hapmap];0.90[TSI][hapmap];0.82[EUR][1000 genomes]
rs12380573	0.82[MEX][hapmap]
rs12552102	1.00[ASW][hapmap];0.93[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.95[TSI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12555728	1.00[ASW][hapmap];0.93[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1412987	1.00[ASN][1000 genomes]
rs1414954	0.82[MEX][hapmap]
rs17391456	0.82[MEX][hapmap]
rs62552125	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62552126	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62552127	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62552128	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62552130	1.00[ASN][1000 genomes]
rs62552131	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72717924	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7865397	0.82[MEX][hapmap]
rs950786	0.93[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.82[TSI][hapmap];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1032210	chr9:71130848-71511987	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	esv2422258	chr9:71234845-71663340	Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv1017903	chr9:71276951-71690579	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4623507	FAM108B1	cis	cerebellum	SCAN

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:71378400-71394200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr9:71378800-71393800	Weak transcription	Primary B cells from cord blood	blood
3	chr9:71378800-71393800	Weak transcription	Primary B cells from peripheral blood	blood
4	chr9:71383600-71393800	Weak transcription	Duodenum Mucosa	Duodenum
5	chr9:71383800-71393600	Weak transcription	Left Ventricle	heart
6	chr9:71384000-71394200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr9:71385600-71393800	Weak transcription	Small Intestine	intestine
8	chr9:71385800-71393400	Weak transcription	Fetal Intestine Small	intestine
9	chr9:71385800-71393800	Weak transcription	Right Ventricle	heart
10	chr9:71386200-71393600	Weak transcription	Primary hematopoietic stem cells	blood
11	chr9:71386600-71393200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr9:71387000-71394200	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr9:71387200-71393800	Weak transcription	Fetal Intestine Large	intestine
14	chr9:71389200-71393800	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr9:71389600-71393400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr9:71390400-71394400	Weak transcription	Aorta	Aorta
17	chr9:71390600-71394000	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr9:71391200-71394200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr9:71392200-71393000	Enhancers	K562	blood
20	chr9:71392200-71394200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr9:71392400-71394400	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr9:71392600-71394000	Weak transcription	NHEK	skin
23	chr9:71392600-71394200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr9:71392600-71394200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr9:71392800-71393000	Enhancers	Esophagus	oesophagus
26	chr9:71392800-71393200	Weak transcription	Fetal Heart	heart
27	chr9:71392800-71393600	Weak transcription	Stomach Mucosa	stomach

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