Variant report

Variant	rs6847934
Chromosome Location	chr4:152150937-152150938
allele	C/G
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	POLR2A	chr4:152150777-152151135	HepG2	liver:	n/a	n/a

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]
rs10016092	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10020297	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10434137	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10461255	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10520101	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10520102	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10776522	0.83[ASN][1000 genomes]
rs11099792	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11099793	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11099796	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11945206	1.00[ASN][1000 genomes]
rs12644496	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12647306	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13103344	0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13111753	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13122609	0.89[AFR][1000 genomes];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13125574	0.82[AFR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2407222	1.00[ASN][1000 genomes]
rs2407223	0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2407407	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2407408	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2407409	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2407410	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2407412	0.91[AFR][1000 genomes];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2407413	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2407417	0.84[AFR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2407418	0.84[AFR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2897655	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2897656	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4266274	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4312738	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4467540	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4591577	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4696234	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4696239	0.99[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7439970	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7688786	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][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:50 , 50 per page) page: 1

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	chr4:152147200-152160200	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr4:152148000-152158000	Weak transcription	Fetal Intestine Small	intestine
10	chr4:152148000-152164200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr4:152148200-152158200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr4:152148200-152163400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr4:152148800-152153200	Weak transcription	Lung	lung
14	chr4:152149200-152152800	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr4:152149200-152153000	Weak transcription	Placenta	Placenta
16	chr4:152149200-152153000	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr4:152149200-152153200	Weak transcription	Psoas Muscle	Psoas
18	chr4:152149200-152153400	Weak transcription	HSMMtube	muscle
19	chr4:152149200-152155000	Weak transcription	Brain Anterior Caudate	brain
20	chr4:152149200-152156200	Weak transcription	Pancreas	Pancrea
21	chr4:152149200-152157200	Weak transcription	Fetal Intestine Large	intestine
22	chr4:152149200-152159200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr4:152149200-152172000	Weak transcription	Left Ventricle	heart
24	chr4:152149200-152185200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr4:152149200-152197600	Weak transcription	Rectal Mucosa Donor 29	rectum
26	chr4:152149600-152151200	Enhancers	Brain Hippocampus Middle	brain
27	chr4:152149600-152152800	Weak transcription	Adipose Nuclei	Adipose
28	chr4:152149600-152152800	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr4:152149600-152153400	Weak transcription	Colon Smooth Muscle	Colon
30	chr4:152149600-152154800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr4:152149600-152158200	Weak transcription	Rectal Smooth Muscle	rectum
32	chr4:152149600-152159600	Weak transcription	Brain Angular Gyrus	brain
33	chr4:152149600-152173000	Weak transcription	Right Atrium	heart
34	chr4:152149800-152152800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr4:152149800-152154800	Weak transcription	Brain Substantia Nigra	brain
36	chr4:152150000-152151200	Enhancers	Ovary	ovary
37	chr4:152150000-152152800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr4:152150000-152153200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr4:152150200-152152800	Weak transcription	Fetal Lung	lung
40	chr4:152150200-152153400	Weak transcription	Fetal Heart	heart
41	chr4:152150200-152153800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr4:152150200-152155600	Weak transcription	Cortex derived primary cultured neurospheres	brain
43	chr4:152150200-152157000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
44	chr4:152150200-152158600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr4:152150400-152154000	Weak transcription	Fetal Muscle Trunk	muscle
46	chr4:152150600-152151000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr4:152150600-152151600	Enhancers	Brain Inferior Temporal Lobe	brain
48	chr4:152150800-152151000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr4:152150800-152151400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr4:152150800-152152800	Weak transcription	Fetal Stomach	stomach

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