Variant report

Variant	rs9991362
Chromosome Location	chr4:152149634-152149635
allele	A/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	CEBPB	chr4:152149531-152150187	IMR90	lung:	n/a	chr4:152149719-152149728 chr4:152149719-152149728 chr4:152149717-152149728 chr4:152149719-152149728 chr4:152149719-152149728
2	POLR2A	chr4:152147209-152150071	MCF10A-Er-Src	breast:	n/a	n/a
3	POLR2A	chr4:152148659-152149922	MCF10A-Er-Src	breast:	n/a	n/a
4	NFIC	chr4:152149457-152150253	SK-N-SH	brain:	n/a	chr4:152149841-152149858
5	NFIC	chr4:152149599-152150145	ECC-1	luminal epithelium:	n/a	chr4:152149841-152149858
6	NFIC	chr4:152149524-152150240	ECC-1	luminal epithelium:	n/a	chr4:152149841-152149858
7	CEBPB	chr4:152149579-152149826	HepG2	liver:	n/a	chr4:152149719-152149728 chr4:152149719-152149728 chr4:152149717-152149728 chr4:152149719-152149728 chr4:152149719-152149728
8	CEBPB	chr4:152149546-152149829	K562	blood:	n/a	chr4:152149719-152149728 chr4:152149719-152149728 chr4:152149717-152149728 chr4:152149719-152149728 chr4:152149719-152149728

Variant related genes	Relation type
SH3D19	TF binding region

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10005764	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10016856	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10028324	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11099784	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17027541	1.00[EUR][1000 genomes]
rs17027575	1.00[EUR][1000 genomes]
rs28399915	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28401367	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28432996	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28493533	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28566074	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28594255	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28644282	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28658039	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28791569	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28836884	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56681758	1.00[EUR][1000 genomes]
rs58001315	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58602547	1.00[EUR][1000 genomes]
rs59043107	1.00[EUR][1000 genomes]
rs60001201	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60162090	1.00[EUR][1000 genomes]
rs60661732	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6812606	1.00[AMR][1000 genomes]
rs6820298	1.00[EUR][1000 genomes]
rs6855493	1.00[EUR][1000 genomes]
rs6856037	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72967593	1.00[EUR][1000 genomes]
rs73859998	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73860000	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73861187	1.00[EUR][1000 genomes]
rs73861286	1.00[EUR][1000 genomes]
rs7658238	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7659047	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9917939	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9918061	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9997354	1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1034948	chr4:151590115-152202687	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv537302	chr4:151590115-152202687	ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	nsv530159	chr4:151624865-152203910	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
4	nsv948719	chr4:151693149-152161625	Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
5	nsv880262	chr4:151712054-152519899	Enhancers Weak transcription Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
6	nsv881526	chr4:151968295-152489087	Flanking Active TSS Enhancers Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
7	nsv1016220	chr4:151997139-152164126	Flanking Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
8	nsv537306	chr4:151997139-152164126	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
9	nsv870229	chr4:152114410-152161072	Genic enhancers Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:152120800-152153800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr4:152129000-152168000	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr4:152129400-152167800	Weak transcription	Right Ventricle	heart
4	chr4:152130200-152187800	Weak transcription	Duodenum Mucosa	Duodenum
5	chr4:152136600-152158000	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr4:152141000-152167400	Weak transcription	HepG2	liver
7	chr4:152144800-152163400	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr4:152146200-152149800	Flanking Active TSS	HUVEC	blood vessel
9	chr4:152147200-152150200	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr4:152147200-152150200	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr4:152147200-152160200	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr4:152147400-152150200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr4:152147600-152149800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr4:152147600-152150200	Enhancers	Fetal Heart	heart
15	chr4:152147600-152150800	Enhancers	Fetal Stomach	stomach
16	chr4:152148000-152158000	Weak transcription	Fetal Intestine Small	intestine
17	chr4:152148000-152164200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr4:152148200-152150000	Enhancers	A549	lung
19	chr4:152148200-152158200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr4:152148200-152163400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr4:152148800-152149800	Enhancers	Liver	Liver
22	chr4:152148800-152153200	Weak transcription	Lung	lung
23	chr4:152149000-152150200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr4:152149200-152150000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr4:152149200-152150000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr4:152149200-152150000	Weak transcription	Fetal Muscle Trunk	muscle
27	chr4:152149200-152150000	Weak transcription	Fetal Muscle Leg	muscle
28	chr4:152149200-152150000	Weak transcription	Ovary	ovary
29	chr4:152149200-152150200	Enhancers	NH-A	brain
30	chr4:152149200-152152800	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr4:152149200-152153000	Weak transcription	Placenta	Placenta
32	chr4:152149200-152153000	Weak transcription	Skeletal Muscle Female	skeletal muscle
33	chr4:152149200-152153200	Weak transcription	Psoas Muscle	Psoas
34	chr4:152149200-152153400	Weak transcription	HSMMtube	muscle
35	chr4:152149200-152155000	Weak transcription	Brain Anterior Caudate	brain
36	chr4:152149200-152156200	Weak transcription	Pancreas	Pancrea
37	chr4:152149200-152157200	Weak transcription	Fetal Intestine Large	intestine
38	chr4:152149200-152159200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr4:152149200-152172000	Weak transcription	Left Ventricle	heart
40	chr4:152149200-152185200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr4:152149200-152197600	Weak transcription	Rectal Mucosa Donor 29	rectum
42	chr4:152149400-152149800	Enhancers	Brain Substantia Nigra	brain
43	chr4:152149400-152150000	Enhancers	NHEK	skin
44	chr4:152149600-152149800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr4:152149600-152149800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr4:152149600-152150000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr4:152149600-152150200	Enhancers	Fetal Lung	lung
48	chr4:152149600-152150200	Enhancers	Osteobl	bone
49	chr4:152149600-152150400	Enhancers	Muscle Satellite Cultured Cells	--
50	chr4:152149600-152150600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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