Variant report

Variant	rs13120514
Chromosome Location	chr4:8483325-8483326
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	chr4:8483209-8483333	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:8479557..8483754-chr4:8505033..8507334,3	K562	blood:
2	chr14:52430111..52431632-chr4:8482174..8483707,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000205959	TF binding region

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10938716	0.96[ASN][1000 genomes]
rs10938717	0.96[ASN][1000 genomes]
rs13105415	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13105907	0.96[ASN][1000 genomes]
rs13106582	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13111630	0.96[ASN][1000 genomes]
rs13120605	0.96[ASN][1000 genomes]
rs13121817	0.96[ASN][1000 genomes]
rs13122276	0.96[ASN][1000 genomes]
rs13129077	0.88[ASN][1000 genomes]
rs13132875	0.88[ASN][1000 genomes]
rs13141535	0.96[ASN][1000 genomes]
rs13147943	0.94[ASN][1000 genomes]
rs16842355	0.94[ASN][1000 genomes]
rs34053441	0.82[ASN][1000 genomes]
rs34465110	0.84[ASN][1000 genomes]
rs34935132	0.82[ASN][1000 genomes]
rs35769879	0.94[ASN][1000 genomes]
rs36122693	0.96[ASN][1000 genomes]
rs3796763	0.96[ASN][1000 genomes]
rs3806811	0.88[ASN][1000 genomes]
rs56786736	0.96[ASN][1000 genomes]
rs60080531	0.96[ASN][1000 genomes]
rs6811968	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs6813502	0.94[ASN][1000 genomes]
rs6816430	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6832505	0.94[ASN][1000 genomes]
rs6832668	0.94[ASN][1000 genomes]
rs73089514	0.88[ASN][1000 genomes]
rs7670021	0.96[ASN][1000 genomes]
rs7697154	0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1002794	chr4:8110083-8490934	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv878604	chr4:8315938-8618916	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
3	nsv1002680	chr4:8357163-8721214	Active TSS Flanking Active TSS Strong transcription Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	nsv829854	chr4:8402921-8506407	Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:8473600-8501400	Weak transcription	Brain Substantia Nigra	brain
2	chr4:8475600-8491400	Weak transcription	Aorta	Aorta
3	chr4:8475800-8491800	Weak transcription	Colon Smooth Muscle	Colon
4	chr4:8478000-8500200	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr4:8478200-8491400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr4:8478600-8490400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr4:8478600-8492000	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr4:8478800-8483800	Weak transcription	Brain Anterior Caudate	brain
9	chr4:8479200-8486200	Weak transcription	Pancreas	Pancrea
10	chr4:8479200-8488400	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr4:8479200-8501400	Weak transcription	Liver	Liver
12	chr4:8479400-8491200	Weak transcription	Rectal Smooth Muscle	rectum
13	chr4:8479600-8485200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr4:8479600-8490800	Weak transcription	Primary B cells from peripheral blood	blood
15	chr4:8479600-8490800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
16	chr4:8479800-8494600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr4:8480000-8493000	Weak transcription	Gastric	stomach
18	chr4:8480200-8486200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr4:8480200-8498400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
20	chr4:8480200-8501400	Weak transcription	Brain Hippocampus Middle	brain
21	chr4:8480600-8484600	Weak transcription	Thymus	Thymus
22	chr4:8480600-8498200	Weak transcription	Stomach Smooth Muscle	stomach
23	chr4:8480800-8497400	Weak transcription	Spleen	Spleen
24	chr4:8481200-8483400	Weak transcription	Fetal Intestine Small	intestine
25	chr4:8481200-8483800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr4:8481200-8485000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr4:8481400-8483800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr4:8481400-8483800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr4:8481400-8484800	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chr4:8481400-8485000	Weak transcription	Right Ventricle	heart
31	chr4:8481400-8486800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr4:8481400-8490400	Weak transcription	Fetal Brain Female	brain
33	chr4:8481400-8490400	Weak transcription	Lung	lung
34	chr4:8481400-8490400	Weak transcription	Ovary	ovary
35	chr4:8481400-8491800	Weak transcription	Esophagus	oesophagus
36	chr4:8481400-8495200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr4:8481400-8496800	Weak transcription	Skeletal Muscle Male	skeletal muscle
38	chr4:8481400-8501400	Weak transcription	Brain Inferior Temporal Lobe	brain
39	chr4:8481600-8493200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
40	chr4:8481800-8490600	Weak transcription	Fetal Stomach	stomach
41	chr4:8481800-8491800	Weak transcription	Fetal Muscle Trunk	muscle
42	chr4:8481800-8497400	Weak transcription	Fetal Muscle Leg	muscle
43	chr4:8482000-8483800	Enhancers	HUES6 Cell Line	embryonic stem cell
44	chr4:8482200-8487800	Weak transcription	K562	blood
45	chr4:8482200-8495000	Weak transcription	Brain Germinal Matrix	brain
46	chr4:8482200-8501400	Weak transcription	Primary T cells from cord blood	blood
47	chr4:8482400-8483400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr4:8482400-8483800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr4:8482600-8483800	Enhancers	iPS-18 Cell Line	embryonic stem cell
50	chr4:8483200-8483800	Enhancers	ES-I3 Cell Line	embryonic stem cell

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