Variant report

Variant	rs11928731
Chromosome Location	chr3:120065932-120065933
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ZNF384	chr3:120065631-120066304	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:119962878..119965844-chr3:120065668..120069448,4	MCF-7	breast:
2	chr3:120059782..120066077-chr3:120066537..120070898,10	K562	blood:

Variant related genes	Relation type
ENSG00000240661	TF binding region
ENSG00000240661	Chromatin interaction
ENSG00000163428	Chromatin interaction
ENSG00000175697	Chromatin interaction

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs10048964	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1085614	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1085616	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1085617	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1147681	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1147688	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1147689	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1147690	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1147697	0.86[AMR][1000 genomes]
rs11914405	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13318758	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs13318838	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13327125	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1625178	0.99[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1700	0.83[EUR][1000 genomes]
rs1716855	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1716856	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1733326	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1733328	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2638597	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28535957	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28600057	1.00[ASN][1000 genomes]
rs28826066	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62266319	1.00[ASN][1000 genomes]
rs6764516	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6767308	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6777979	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6799005	0.80[AMR][1000 genomes]
rs6808913	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs787186	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs787187	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs787189	0.87[EUR][1000 genomes]
rs787190	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs787192	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs787193	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs787196	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs787200	0.87[EUR][1000 genomes]
rs787205	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs787206	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs787207	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs787208	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs809792	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs923729	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs951658	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9810151	0.86[AMR][1000 genomes]
rs9810784	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9822636	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9822759	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9851711	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9856670	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9860676	0.86[AMR][1000 genomes]
rs9876547	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949589	chr3:119560606-120175917	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
2	nsv1001476	chr3:119575386-120075417	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
3	nsv536704	chr3:119575386-120075417	Enhancers Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
4	nsv877376	chr3:119824037-120119446	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
5	nsv1007557	chr3:119892894-120764353	Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
6	nsv536706	chr3:119892894-120764353	Flanking Bivalent TSS/Enh Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
7	nsv829698	chr3:119960869-120129126	Enhancers Strong transcription Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
8	nsv1012127	chr3:120015620-120272893	Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
9	nsv536707	chr3:120015620-120272893	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
10	nsv1006428	chr3:120015620-120421982	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	33 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:120026800-120067200	Weak transcription	Aorta	Aorta
2	chr3:120033200-120067000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr3:120044400-120066800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr3:120045200-120066800	Weak transcription	Stomach Mucosa	stomach
5	chr3:120045600-120066800	Weak transcription	Colonic Mucosa	Colon
6	chr3:120048400-120066800	Weak transcription	Right Ventricle	heart
7	chr3:120050400-120066000	Weak transcription	Fetal Brain Male	brain
8	chr3:120051000-120067000	Weak transcription	Esophagus	oesophagus
9	chr3:120051200-120066800	Weak transcription	Psoas Muscle	Psoas
10	chr3:120051200-120066800	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr3:120052600-120067000	Weak transcription	Left Ventricle	heart
12	chr3:120053200-120066600	Weak transcription	Fetal Kidney	kidney
13	chr3:120053800-120066600	Weak transcription	Rectal Smooth Muscle	rectum
14	chr3:120053800-120066600	Weak transcription	NH-A	brain
15	chr3:120054000-120066000	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr3:120054200-120066600	Weak transcription	HUVEC	blood vessel
17	chr3:120054200-120066600	Weak transcription	K562	blood
18	chr3:120057800-120067000	Weak transcription	Small Intestine	intestine
19	chr3:120058600-120066600	Weak transcription	Fetal Lung	lung
20	chr3:120059000-120066800	Weak transcription	Placenta	Placenta
21	chr3:120060800-120066600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr3:120061000-120066600	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr3:120061200-120066400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr3:120061200-120066600	Weak transcription	Primary neutrophils fromperipheralblood	blood
25	chr3:120061400-120066800	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr3:120061400-120066800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr3:120061400-120066800	Weak transcription	Gastric	stomach
28	chr3:120061400-120067000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr3:120061600-120066400	Weak transcription	Pancreas	Pancrea
30	chr3:120061600-120066600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
31	chr3:120061600-120066600	Weak transcription	Fetal Intestine Small	intestine
32	chr3:120061600-120066800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr3:120061600-120067000	Weak transcription	Spleen	Spleen
34	chr3:120061800-120066600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr3:120061800-120066800	Weak transcription	Fetal Muscle Trunk	muscle
36	chr3:120062000-120066000	Weak transcription	Fetal Intestine Large	intestine
37	chr3:120062000-120066600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr3:120062000-120066600	Weak transcription	HUES64 Cell Line	embryonic stem cell
39	chr3:120062000-120066600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
40	chr3:120062000-120066600	Weak transcription	Duodenum Mucosa	Duodenum
41	chr3:120062000-120066600	Weak transcription	Thymus	Thymus
42	chr3:120062000-120066800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr3:120062000-120066800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
44	chr3:120062400-120066800	Enhancers	Primary T helper cells fromperipheralblood	blood
45	chr3:120062600-120066800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
46	chr3:120062600-120066800	Weak transcription	Rectal Mucosa Donor 29	rectum
47	chr3:120062600-120066800	Weak transcription	HSMM	muscle
48	chr3:120062800-120066600	Weak transcription	HUES48 Cell Line	embryonic stem cell
49	chr3:120062800-120066600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
50	chr3:120062800-120066600	Enhancers	Primary T regulatory cells fromperipheralblood	blood

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