Variant report

Variant	rs10938716
Chromosome Location	chr4:8502695-8502696
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:133030195..133031800-chr4:8501349..8502849,2	MCF-7	breast:
2	chr4:8500815..8505571-chr4:8524859..8530536,4	MCF-7	breast:
3	chr4:8501425..8503291-chr4:8548491..8551263,2	MCF-7	breast:
4	chr4:8500499..8503047-chr4:8505239..8508077,2	K562	blood:

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10938717	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13105415	0.96[ASN][1000 genomes]
rs13105907	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13106582	0.94[ASN][1000 genomes]
rs13111630	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13120514	0.96[ASN][1000 genomes]
rs13120605	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13121817	0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13122276	0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13129077	0.88[ASN][1000 genomes]
rs13132875	0.88[ASN][1000 genomes]
rs13141535	0.96[ASN][1000 genomes]
rs13147943	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16842355	0.94[ASN][1000 genomes]
rs34053441	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs34465110	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs34565752	0.89[EUR][1000 genomes]
rs34621669	0.91[EUR][1000 genomes]
rs34681013	0.80[EUR][1000 genomes]
rs34935132	0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs35769879	0.98[ASN][1000 genomes]
rs36122693	0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3796763	0.96[ASN][1000 genomes]
rs3806811	0.88[ASN][1000 genomes]
rs56786736	0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs60080531	0.96[ASN][1000 genomes]
rs6811968	0.94[ASN][1000 genomes]
rs6813502	0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6816430	0.94[ASN][1000 genomes]
rs6832505	0.98[ASN][1000 genomes]
rs6832668	0.98[ASN][1000 genomes]
rs73089514	0.88[ASN][1000 genomes]
rs7670021	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:8491000-8505200	Weak transcription	Fetal Brain Female	brain
2	chr4:8497000-8504200	Weak transcription	Right Atrium	heart
3	chr4:8501600-8502800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr4:8501600-8502800	Weak transcription	Placenta	Placenta
5	chr4:8501600-8503000	Weak transcription	Brain Hippocampus Middle	brain
6	chr4:8501600-8503600	Weak transcription	Adipose Nuclei	Adipose
7	chr4:8501600-8504000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr4:8501600-8504000	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr4:8501600-8504000	Weak transcription	Fetal Heart	heart
10	chr4:8501600-8504200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr4:8501600-8504200	Weak transcription	Esophagus	oesophagus
12	chr4:8501600-8504200	Weak transcription	Pancreas	Pancrea
13	chr4:8501600-8504400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr4:8501600-8504400	Weak transcription	Lung	lung
15	chr4:8501600-8504600	Weak transcription	Brain Anterior Caudate	brain
16	chr4:8501600-8504600	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr4:8501600-8505200	Weak transcription	Brain Substantia Nigra	brain
18	chr4:8501600-8505600	Weak transcription	Gastric	stomach
19	chr4:8501600-8505800	Weak transcription	Brain Cingulate Gyrus	brain
20	chr4:8501600-8505800	Weak transcription	Colonic Mucosa	Colon
21	chr4:8501600-8505800	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr4:8501600-8506000	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr4:8501600-8507000	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr4:8501600-8507000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr4:8501600-8507400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr4:8501600-8507400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
27	chr4:8501600-8507600	Weak transcription	HUES48 Cell Line	embryonic stem cell
28	chr4:8501600-8507600	Weak transcription	HUES64 Cell Line	embryonic stem cell
29	chr4:8501600-8507600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
30	chr4:8501600-8507800	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr4:8501600-8507800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr4:8501600-8507800	Weak transcription	Brain Angular Gyrus	brain
33	chr4:8501800-8510600	Enhancers	Ovary	ovary
34	chr4:8502600-8502800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
35	chr4:8502600-8503000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
36	chr4:8502600-8504000	Enhancers	Fetal Muscle Leg	muscle

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