Variant report

Variant	rs73062364
Chromosome Location	chr3:194860308-194860309
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	TFAP2C	chr3:194860091-194860423	Hela-S3	cervix:	n/a	n/a
2	MYC	chr3:194860240-194860945	MCF10A-Er-Src	breast:	n/a	n/a
3	HMGN3	chr3:194860178-194860378	K562	blood:	n/a	n/a
4	STAT3	chr3:194860290-194860957	MCF10A-Er-Src	breast:	n/a	chr3:194860764-194860773
5	JUN	chr3:194859632-194863300	K562	blood:	n/a	chr3:194863166-194863175 chr3:194860763-194860773 chr3:194860763-194860772 chr3:194860762-194860774 chr3:194860765-194860772 chr3:194860764-194860773
6	POLR2A	chr3:194859947-194860374	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
MIR3137	TF binding region

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs56255905	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57903120	1.00[AMR][1000 genomes]
rs59902366	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61371162	1.00[AMR][1000 genomes]
rs6437459	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6775088	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6778914	1.00[EUR][1000 genomes]
rs6784442	1.00[EUR][1000 genomes]
rs6784851	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6790238	1.00[EUR][1000 genomes]
rs6791397	1.00[EUR][1000 genomes]
rs73062362	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73062366	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73062367	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73063135	1.00[AMR][1000 genomes]
rs73063140	1.00[AMR][1000 genomes]
rs73063142	1.00[AMR][1000 genomes]
rs73063144	1.00[AMR][1000 genomes]
rs73063147	1.00[AMR][1000 genomes]
rs73063157	1.00[AMR][1000 genomes]
rs73063163	1.00[AMR][1000 genomes]
rs73079469	1.00[AMR][1000 genomes]
rs7611411	1.00[EUR][1000 genomes]
rs7623299	1.00[AMR][1000 genomes]
rs7628016	1.00[EUR][1000 genomes]
rs7651863	1.00[AMR][1000 genomes]
rs7651951	1.00[AMR][1000 genomes]
rs9856249	1.00[EUR][1000 genomes]
rs9880310	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1007697	chr3:194554814-195009930	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	28 gene(s)	inside rSNPs	diseases
2	nsv536873	chr3:194554814-195009930	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	28 gene(s)	inside rSNPs	diseases
3	nsv997779	chr3:194687093-194885936	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
4	nsv536874	chr3:194687093-194885936	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
5	nsv1009796	chr3:194737333-195124248	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
6	nsv1012592	chr3:194814446-194931562	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Strong transcription 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	13 gene(s)	inside rSNPs	diseases
7	nsv536875	chr3:194814446-194931562	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
8	nsv1001492	chr3:194814990-194935397	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
9	nsv461126	chr3:194817484-194961888	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
10	nsv592981	chr3:194817484-194961888	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
11	nsv878137	chr3:194822098-194900432	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
12	nsv461127	chr3:194833940-194934634	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
13	nsv592982	chr3:194833940-194934634	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
14	nsv1014826	chr3:194834615-195631793	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	73 gene(s)	inside rSNPs	diseases
15	nsv536876	chr3:194834615-195631793	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	73 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:194827400-194861200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr3:194839200-194861200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr3:194839200-194861400	Weak transcription	Aorta	Aorta
4	chr3:194841000-194872800	Weak transcription	HSMMtube	muscle
5	chr3:194841400-194868800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr3:194845600-194861200	Weak transcription	Ovary	ovary
7	chr3:194846200-194862400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr3:194846600-194868400	Weak transcription	HepG2	liver
9	chr3:194847200-194868200	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr3:194849200-194861200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr3:194850800-194860400	Weak transcription	HUVEC	blood vessel
12	chr3:194850800-194860600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr3:194851800-194860400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr3:194852400-194868400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr3:194854600-194861600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr3:194854600-194865800	Weak transcription	Brain Cingulate Gyrus	brain
17	chr3:194854600-194866200	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr3:194854600-194868400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr3:194854600-194868600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr3:194854600-194871000	Weak transcription	Fetal Brain Female	brain
21	chr3:194854800-194860400	Weak transcription	NH-A	brain
22	chr3:194854800-194860600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr3:194854800-194861200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr3:194854800-194868400	Weak transcription	NHLF	lung
25	chr3:194855200-194861600	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr3:194855200-194862800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr3:194855400-194860400	Weak transcription	Hela-S3	cervix
28	chr3:194855400-194868800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr3:194857400-194861000	Weak transcription	Primary hematopoietic stem cells	blood
30	chr3:194857400-194861400	Weak transcription	Primary T cells from cord blood	blood
31	chr3:194857600-194861000	Weak transcription	Monocytes-CD14+_RO01746	blood
32	chr3:194857600-194861800	Enhancers	Placenta Amnion	Placenta Amnion
33	chr3:194858000-194866000	Enhancers	Placenta	Placenta
34	chr3:194858400-194861200	Enhancers	Esophagus	oesophagus
35	chr3:194858600-194866800	Weak transcription	Gastric	stomach
36	chr3:194858800-194861000	Weak transcription	Fetal Intestine Small	intestine
37	chr3:194858800-194861400	Weak transcription	Adipose Nuclei	Adipose
38	chr3:194858800-194865400	Weak transcription	Fetal Stomach	stomach
39	chr3:194859600-194860400	Enhancers	Fetal Thymus	thymus
40	chr3:194859600-194860400	Enhancers	Stomach Smooth Muscle	stomach
41	chr3:194859600-194860600	Enhancers	Fetal Muscle Trunk	muscle
42	chr3:194859600-194860800	Genic enhancers	K562	blood
43	chr3:194859800-194860400	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
44	chr3:194859800-194860400	Active TSS	Primary B cells from peripheral blood	blood
45	chr3:194859800-194860400	Active TSS	Primary T cells fromperipheralblood	blood
46	chr3:194859800-194860400	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
47	chr3:194859800-194860400	Enhancers	Colon Smooth Muscle	Colon
48	chr3:194859800-194860400	Enhancers	NHEK	skin
49	chr3:194859800-194860600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr3:194859800-194860600	Enhancers	Fetal Muscle Leg	muscle

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