Variant report

Variant	rs814696
Chromosome Location	chr9:116723970-116723971
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:116637977..116639481-chr9:116723688..116725497,2	MCF-7	breast:
2	chr9:116722915..116725861-chr9:116733110..116736433,3	MCF-7	breast:
3	chr9:116707223..116710923-chr9:116723048..116727308,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000157657	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10119978	0.85[CEU][hapmap];0.92[CHD][hapmap];0.91[GIH][hapmap];0.85[JPT][hapmap];0.84[ASN][1000 genomes]
rs10448275	0.85[CEU][hapmap]
rs10448276	0.96[CEU][hapmap];0.85[JPT][hapmap];0.85[EUR][1000 genomes]
rs10739396	1.00[CEU][hapmap];0.92[CHD][hapmap];0.89[GIH][hapmap];0.85[JPT][hapmap];0.90[MEX][hapmap];0.88[TSI][hapmap];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10759664	0.85[CEU][hapmap];0.90[CHD][hapmap];0.95[GIH][hapmap];0.81[JPT][hapmap];0.81[MEX][hapmap];0.82[TSI][hapmap];0.83[ASN][1000 genomes]
rs10759665	0.85[CEU][hapmap];0.81[JPT][hapmap];0.83[ASN][1000 genomes]
rs10759666	0.85[CEU][hapmap];0.81[JPT][hapmap];0.80[ASN][1000 genomes]
rs10817539	0.85[CEU][hapmap]
rs10817541	0.85[CEU][hapmap];0.89[CHB][hapmap];0.89[CHD][hapmap];0.82[GIH][hapmap];0.85[JPT][hapmap];0.92[ASN][1000 genomes]
rs10982015	0.84[ASN][1000 genomes]
rs10982017	0.85[CEU][hapmap];0.89[CHB][hapmap];0.92[CHD][hapmap];0.91[GIH][hapmap];0.85[JPT][hapmap];0.93[ASN][1000 genomes]
rs1330166	1.00[CEU][hapmap];0.92[CHD][hapmap];0.98[GIH][hapmap];0.85[JPT][hapmap];0.95[MEX][hapmap];0.93[TSI][hapmap];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1536962	0.85[CEU][hapmap];0.81[JPT][hapmap];0.83[ASN][1000 genomes]
rs1536965	0.85[CEU][hapmap];0.81[JPT][hapmap];0.84[ASN][1000 genomes]
rs1536966	0.85[CEU][hapmap];0.85[JPT][hapmap];0.84[ASN][1000 genomes]
rs1544102	0.96[CEU][hapmap];0.83[CHB][hapmap];0.92[CHD][hapmap];0.93[GIH][hapmap];0.85[JPT][hapmap];0.90[MEX][hapmap];0.91[TSI][hapmap];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1888161	0.85[CEU][hapmap]
rs2026143	0.82[CEU][hapmap];0.85[JPT][hapmap];0.86[ASN][1000 genomes]
rs2418260	0.85[CEU][hapmap];0.90[CHD][hapmap];0.87[GIH][hapmap];0.81[JPT][hapmap];0.80[TSI][hapmap];0.83[ASN][1000 genomes]
rs2418261	0.93[ASN][1000 genomes]
rs2761688	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2773396	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2900570	0.85[CEU][hapmap];0.89[CHD][hapmap];0.87[GIH][hapmap];0.85[JPT][hapmap];0.80[TSI][hapmap];0.84[ASN][1000 genomes]
rs2900571	0.96[CEU][hapmap];0.85[JPT][hapmap];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4979298	0.89[GIH][hapmap]
rs4979307	0.82[CEU][hapmap];0.85[JPT][hapmap];0.82[ASN][1000 genomes]
rs7032101	0.88[CEU][hapmap];0.85[JPT][hapmap];0.84[ASN][1000 genomes]
rs7046776	0.82[CEU][hapmap]
rs7867998	0.85[CEU][hapmap]
rs7869027	0.85[JPT][hapmap];0.80[TSI][hapmap];0.84[ASN][1000 genomes]
rs814680	0.82[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.91[GIH][hapmap];0.95[JPT][hapmap];0.81[MEX][hapmap];0.97[ASN][1000 genomes]
rs814686	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs871806	0.85[CEU][hapmap]
rs871808	0.85[CEU][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv430093	chr9:116330446-117325446	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	165 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs814696	ZNF618	cis	cerebellum	SCAN
rs814696	CDC26	cis	cerebellum	SCAN

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:116708800-116726400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr9:116712800-116726400	Weak transcription	Brain Germinal Matrix	brain
3	chr9:116716200-116730000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr9:116717000-116730000	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr9:116717000-116733200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr9:116717200-116754600	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr9:116717400-116735600	Weak transcription	Fetal Heart	heart
8	chr9:116717600-116730200	Weak transcription	Psoas Muscle	Psoas
9	chr9:116717800-116724800	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr9:116718000-116731400	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr9:116718400-116728600	Weak transcription	Primary hematopoietic stem cells	blood
12	chr9:116718600-116731000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr9:116720000-116726000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr9:116720000-116726400	Weak transcription	Right Ventricle	heart
15	chr9:116720000-116728000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr9:116720000-116728000	Weak transcription	Spleen	Spleen
17	chr9:116720400-116731400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr9:116720400-116731400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
19	chr9:116720400-116731600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr9:116720400-116754200	Weak transcription	Monocytes-CD14+_RO01746	blood
21	chr9:116720800-116724800	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr9:116720800-116724800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr9:116720800-116724800	Weak transcription	Adipose Nuclei	Adipose
24	chr9:116720800-116731400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr9:116720800-116736400	Weak transcription	Aorta	Aorta
26	chr9:116720800-116750600	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr9:116721000-116724400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr9:116721000-116725000	Weak transcription	Osteobl	bone
29	chr9:116721000-116725800	Weak transcription	Stomach Mucosa	stomach
30	chr9:116721000-116726000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr9:116721000-116726000	Weak transcription	Right Atrium	heart
32	chr9:116721000-116726400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr9:116721000-116728000	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr9:116721000-116728000	Weak transcription	HSMM	muscle
35	chr9:116721000-116728200	Weak transcription	Ovary	ovary
36	chr9:116721000-116731200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr9:116721000-116731400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr9:116721000-116731400	Weak transcription	HMEC	breast
39	chr9:116721200-116724800	Weak transcription	Fetal Kidney	kidney
40	chr9:116721200-116724800	Weak transcription	Lung	lung
41	chr9:116721200-116726000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr9:116721200-116726000	Weak transcription	Pancreas	Pancrea
43	chr9:116721200-116728000	Weak transcription	Fetal Intestine Large	intestine
44	chr9:116721200-116731000	Weak transcription	A549	lung
45	chr9:116721200-116731400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr9:116721200-116731400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr9:116721200-116731400	Weak transcription	NH-A	brain
48	chr9:116721200-116735600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr9:116721200-116735600	Weak transcription	Muscle Satellite Cultured Cells	--
50	chr9:116721200-116750800	Weak transcription	Skeletal Muscle Female	skeletal muscle

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