Variant report

Variant	rs7932972
Chromosome Location	chr11:108080412-108080413
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:108078114..108080431-chr11:108091811..108093952,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000149308	Chromatin interaction
ENSG00000149311	Chromatin interaction

Extended variants
information (count: 88 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:86)

rs_ID	r²[population]
rs10789656	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11212538	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11212542	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11212543	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11212546	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11212551	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11212579	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs1150203	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs11605442	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12272183	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1607476	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs172927	0.97[AFR][1000 genomes];0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs183459	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs183460	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1850730	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs189037	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1893812	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1893813	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1973723	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2056267	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2070661	0.86[EUR][1000 genomes]
rs2083707	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs227041	0.81[AMR][1000 genomes]
rs227053	0.89[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs227061	0.81[AMR][1000 genomes]
rs227068	0.83[AMR][1000 genomes]
rs227073	0.80[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs227076	0.81[AMR][1000 genomes]
rs228588	0.80[EUR][1000 genomes]
rs228589	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs228590	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs228591	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs228592	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs228594	0.82[EUR][1000 genomes]
rs228595	0.81[ASN][1000 genomes]
rs228596	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs228597	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs228598	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs228599	0.82[EUR][1000 genomes]
rs228601	0.82[AMR][1000 genomes]
rs228606	0.86[ASN][1000 genomes]
rs228607	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs228608	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3781868	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3781869	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4027718	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs419716	0.81[AMR][1000 genomes]
rs425061	0.81[AMR][1000 genomes]
rs4623864	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4753833	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4754301	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4754305	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4754306	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs583725	0.81[AMR][1000 genomes]
rs599164	0.80[EUR][1000 genomes]
rs599406	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs600329	0.81[AMR][1000 genomes]
rs600691	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs600931	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs608086	0.81[AMR][1000 genomes]
rs609261	0.81[AMR][1000 genomes]
rs609557	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs619972	0.86[AFR][1000 genomes]
rs620613	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs623860	0.82[EUR][1000 genomes]
rs624366	0.81[AMR][1000 genomes]
rs624888	0.80[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs625120	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs637064	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs641605	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs650128	0.83[AMR][1000 genomes]
rs650173	0.81[AMR][1000 genomes]
rs6589007	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6589008	0.83[EUR][1000 genomes]
rs660429	0.83[AMR][1000 genomes]
rs661467	0.81[EUR][1000 genomes]
rs672655	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs672964	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs676729	0.83[AMR][1000 genomes]
rs679782	0.80[EUR][1000 genomes]
rs694376	0.80[EUR][1000 genomes]
rs694799	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7118967	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7129527	0.82[ASN][1000 genomes]
rs7395528	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7948117	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533794	chr11:107349817-108093259	Bivalent Enhancer Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	nsv898383	chr11:108068954-108251211	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	24 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7932972	ACAT1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:108062600-108090800	Weak transcription	Colon Smooth Muscle	Colon
2	chr11:108070600-108089800	Weak transcription	Psoas Muscle	Psoas
3	chr11:108071000-108091600	Weak transcription	Right Atrium	heart
4	chr11:108071400-108092400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr11:108072800-108081800	ZNF genes & repeats	GM12878-XiMat	blood
6	chr11:108074000-108082600	ZNF genes & repeats	Fetal Intestine Small	intestine
7	chr11:108074000-108083000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
8	chr11:108074200-108081000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
9	chr11:108074200-108082600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr11:108074400-108082400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr11:108074400-108082600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr11:108074400-108090800	Weak transcription	Small Intestine	intestine
13	chr11:108074600-108082800	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
14	chr11:108074600-108084000	ZNF genes & repeats	Fetal Stomach	stomach
15	chr11:108074600-108084800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr11:108074800-108080800	Strong transcription	Primary T helper cells fromperipheralblood	blood
17	chr11:108074800-108082400	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr11:108074800-108082600	ZNF genes & repeats	Primary hematopoietic stem cells	blood
19	chr11:108075000-108081800	ZNF genes & repeats	Dnd41	blood
20	chr11:108075000-108083600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr11:108075400-108082600	Strong transcription	Muscle Satellite Cultured Cells	--
22	chr11:108075800-108082400	Strong transcription	Primary T killer memory cells from peripheral blood	blood
23	chr11:108076800-108081400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
24	chr11:108077000-108081800	Strong transcription	H1 Cell Line	embryonic stem cell
25	chr11:108077600-108084000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr11:108077800-108089200	Weak transcription	HMEC	breast
27	chr11:108078000-108085200	Strong transcription	Fetal Lung	lung
28	chr11:108078000-108090400	Weak transcription	Pancreatic Islets	Pancreatic Islet
29	chr11:108078000-108090600	Weak transcription	Fetal Heart	heart
30	chr11:108078200-108081000	Weak transcription	HSMM	muscle
31	chr11:108078200-108082800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr11:108078200-108084000	Genic enhancers	Primary T cells fromperipheralblood	blood
33	chr11:108078200-108084200	Strong transcription	Primary T cells from cord blood	blood
34	chr11:108078200-108089000	Weak transcription	Osteobl	bone
35	chr11:108078200-108089400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr11:108078200-108089400	Weak transcription	NHDF-Ad	bronchial
37	chr11:108078400-108080800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
38	chr11:108078400-108081600	Strong transcription	HUES6 Cell Line	embryonic stem cell
39	chr11:108078400-108082200	Strong transcription	Ovary	ovary
40	chr11:108078400-108083600	Weak transcription	HUVEC	blood vessel
41	chr11:108078400-108085000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr11:108078400-108091800	Weak transcription	HSMMtube	muscle
43	chr11:108078600-108081000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr11:108078600-108081000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
45	chr11:108078600-108081000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
46	chr11:108078600-108081400	Strong transcription	Rectal Mucosa Donor 29	rectum
47	chr11:108078600-108082000	Strong transcription	Placenta	Placenta
48	chr11:108078600-108082200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr11:108078600-108082200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr11:108078600-108083400	Weak transcription	Left Ventricle	heart

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