Variant report

Variant	rs13124724
Chromosome Location	chr4:76691248-76691249
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	POLR2A	chr4:76691157-76691272	MCF10A-Er-Src	breast:	n/a	n/a

Variant related genes	Relation type
USO1	TF binding region

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10004891	0.85[AMR][1000 genomes]
rs10856855	0.85[AMR][1000 genomes]
rs10856857	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11097050	0.80[AMR][1000 genomes]
rs11097051	0.87[JPT][hapmap];0.80[AMR][1000 genomes]
rs11729983	0.83[JPT][hapmap];0.80[AMR][1000 genomes]
rs11731107	0.83[AMR][1000 genomes]
rs12233785	0.81[AMR][1000 genomes]
rs12647909	0.81[AMR][1000 genomes]
rs13103092	0.80[AMR][1000 genomes]
rs13107337	0.91[ASN][1000 genomes]
rs13152407	0.80[AMR][1000 genomes]
rs17280938	0.84[JPT][hapmap]
rs17284996	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2055998	0.83[JPT][hapmap]
rs2137429	0.83[JPT][hapmap];0.80[AMR][1000 genomes]
rs28709419	0.83[AMR][1000 genomes]
rs3796479	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.88[YRI][hapmap];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6847598	0.87[CHB][hapmap]
rs7665811	0.85[AMR][1000 genomes]
rs9306994	0.83[JPT][hapmap];0.80[AMR][1000 genomes]
rs9306995	0.83[JPT][hapmap];0.80[AMR][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	esv3353539	chr4:76530136-76993859	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv1003516	chr4:76597112-76729576	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
3	nsv537143	chr4:76597112-76729576	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
4	nsv529613	chr4:76654941-77081576	Flanking Active TSS Weak transcription Genic enhancers Strong transcription Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:76650800-76737800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr4:76652000-76696400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr4:76652400-76725000	Weak transcription	Hela-S3	cervix
4	chr4:76668400-76698600	Weak transcription	Fetal Brain Male	brain
5	chr4:76671000-76739400	Weak transcription	Stomach Mucosa	stomach
6	chr4:76671600-76707800	Weak transcription	Right Ventricle	heart
7	chr4:76672000-76692200	Weak transcription	Colonic Mucosa	Colon
8	chr4:76674800-76715200	Strong transcription	HUES48 Cell Line	embryonic stem cell
9	chr4:76675000-76727400	Strong transcription	HUES64 Cell Line	embryonic stem cell
10	chr4:76675400-76695400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr4:76676000-76696400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr4:76676200-76695200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr4:76676200-76695800	Weak transcription	Brain Substantia Nigra	brain
14	chr4:76676200-76696000	Weak transcription	Rectal Smooth Muscle	rectum
15	chr4:76676400-76692000	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr4:76676400-76695800	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr4:76676400-76695800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr4:76676400-76696400	Weak transcription	Esophagus	oesophagus
19	chr4:76676400-76696400	Weak transcription	Pancreas	Pancrea
20	chr4:76676400-76696800	Weak transcription	NHEK	skin
21	chr4:76676400-76697200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr4:76676400-76704800	Weak transcription	Aorta	Aorta
23	chr4:76676400-76704800	Weak transcription	Gastric	stomach
24	chr4:76676400-76730600	Weak transcription	Spleen	Spleen
25	chr4:76676600-76692000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
26	chr4:76676600-76695800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
27	chr4:76676600-76695800	Weak transcription	Fetal Kidney	kidney
28	chr4:76676800-76691600	Weak transcription	HMEC	breast
29	chr4:76676800-76691800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr4:76676800-76692000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
31	chr4:76676800-76692400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
32	chr4:76676800-76692400	Weak transcription	Placenta Amnion	Placenta Amnion
33	chr4:76676800-76695200	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr4:76676800-76695400	Weak transcription	Brain Cingulate Gyrus	brain
35	chr4:76676800-76695400	Weak transcription	A549	lung
36	chr4:76676800-76695800	Weak transcription	Brain Germinal Matrix	brain
37	chr4:76676800-76695800	Weak transcription	Ovary	ovary
38	chr4:76676800-76695800	Weak transcription	Psoas Muscle	Psoas
39	chr4:76676800-76695800	Weak transcription	Thymus	Thymus
40	chr4:76676800-76696400	Weak transcription	Brain Angular Gyrus	brain
41	chr4:76676800-76698400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
42	chr4:76676800-76698400	Weak transcription	Pancreatic Islets	Pancreatic Islet
43	chr4:76677000-76691600	Weak transcription	Dnd41	blood
44	chr4:76677000-76691600	Weak transcription	K562	blood
45	chr4:76677000-76691800	Weak transcription	Primary neutrophils fromperipheralblood	blood
46	chr4:76677000-76691800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
47	chr4:76677000-76691800	Weak transcription	Primary T helper cells PMA-I stimulated	--
48	chr4:76677000-76692000	Weak transcription	HSMMtube	muscle
49	chr4:76677000-76692400	Weak transcription	Duodenum Smooth Muscle	Duodenum
50	chr4:76677000-76694800	Weak transcription	GM12878-XiMat	blood

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