Variant report

Variant	rs73223275
Chromosome Location	chr4:8501538-8501539
allele	A/G
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	chr4:8499417..8502342-chr4:8505170..8507298,2	MCF-7	breast:
4	chr4:8501425..8503291-chr4:8548491..8551263,2	MCF-7	breast:
5	chr4:8499557..8501918-chr4:8533819..8536050,2	MCF-7	breast:
6	chr4:8493970..8498267-chr4:8498833..8501951,5	K562	blood:
7	chr4:8500499..8503047-chr4:8505239..8508077,2	K562	blood:
8	chr4:8475299..8477901-chr4:8499421..8502393,2	MCF-7	breast:

Extended variants
information (count: 119 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:116)

rs_ID	r²[population]
rs10003554	1.00[ASN][1000 genomes]
rs10516192	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11933361	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11938744	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12108233	0.89[EUR][1000 genomes]
rs12108264	0.89[EUR][1000 genomes]
rs12108299	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12498652	1.00[ASN][1000 genomes]
rs12498856	1.00[ASN][1000 genomes]
rs12499366	1.00[ASN][1000 genomes]
rs12500106	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12500186	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12500188	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12501889	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12503080	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12504157	1.00[ASN][1000 genomes]
rs12504328	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12504709	1.00[ASN][1000 genomes]
rs12504813	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12506061	1.00[ASN][1000 genomes]
rs12506272	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12506429	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12506703	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12509044	1.00[ASN][1000 genomes]
rs12509545	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12511417	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12511591	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12512006	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12512044	1.00[ASN][1000 genomes]
rs12513048	1.00[ASN][1000 genomes]
rs12513296	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16842284	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16842305	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16842315	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16842316	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16842337	0.89[AFR][1000 genomes]
rs16842423	0.82[AFR][1000 genomes]
rs2386224	1.00[ASN][1000 genomes]
rs2386225	1.00[ASN][1000 genomes]
rs34873641	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41264711	1.00[ASN][1000 genomes]
rs55856487	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57229672	1.00[ASN][1000 genomes]
rs59670959	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59872851	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62286004	1.00[ASN][1000 genomes]
rs6447869	1.00[ASN][1000 genomes]
rs66675498	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66794792	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67332046	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67496006	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67901119	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6813671	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6814866	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6816060	0.93[AFR][1000 genomes]
rs6816094	0.93[AFR][1000 genomes]
rs6817579	0.83[AFR][1000 genomes]
rs6846116	0.89[AFR][1000 genomes]
rs6849528	1.00[ASN][1000 genomes]
rs73209462	1.00[ASN][1000 genomes]
rs73209465	1.00[ASN][1000 genomes]
rs73209470	1.00[ASN][1000 genomes]
rs73209473	1.00[ASN][1000 genomes]
rs73209478	1.00[ASN][1000 genomes]
rs73209480	1.00[ASN][1000 genomes]
rs73209481	1.00[ASN][1000 genomes]
rs73209488	1.00[ASN][1000 genomes]
rs73209489	1.00[ASN][1000 genomes]
rs73209502	1.00[ASN][1000 genomes]
rs73211306	1.00[ASN][1000 genomes]
rs73211309	1.00[ASN][1000 genomes]
rs73211315	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73211334	1.00[ASN][1000 genomes]
rs73211338	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73211340	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73211347	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73211351	0.89[EUR][1000 genomes]
rs73211354	0.89[EUR][1000 genomes]
rs73211357	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73211359	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73211365	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73211366	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73211368	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73211373	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73211375	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73211378	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73211381	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73211383	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73211388	1.00[EUR][1000 genomes]
rs73211394	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73211401	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73213403	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73213404	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73213405	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73213406	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73213408	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73213409	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73213410	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73213413	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73213414	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73213420	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73213426	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73223242	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73223246	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73223250	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73223256	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73223257	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73223259	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73223263	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73223264	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73223266	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73223271	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73223282	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73223294	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7686550	1.00[ASN][1000 genomes]
rs9761200	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:56 , 50 per page) page: 1 2

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	chr4:8499600-8501600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr4:8500600-8501600	Enhancers	Placenta	Placenta
5	chr4:8501000-8501600	ZNF genes & repeats	Pancreas	Pancrea
6	chr4:8501000-8501800	Weak transcription	Ovary	ovary
7	chr4:8501200-8501600	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
8	chr4:8501200-8501600	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
9	chr4:8501200-8501600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr4:8501200-8501600	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
11	chr4:8501200-8501600	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
12	chr4:8501200-8501600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr4:8501200-8501600	ZNF genes & repeats	Esophagus	oesophagus
14	chr4:8501200-8501600	Enhancers	Lung	lung
15	chr4:8501400-8501600	Flanking Bivalent TSS/Enh	ES-I3 Cell Line	embryonic stem cell
16	chr4:8501400-8501600	Flanking Bivalent TSS/Enh	ES-WA7 Cell Line	embryonic stem cell
17	chr4:8501400-8501600	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr4:8501400-8501600	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr4:8501400-8501600	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr4:8501400-8501600	Bivalent Enhancer	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr4:8501400-8501600	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
22	chr4:8501400-8501600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
23	chr4:8501400-8501600	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
24	chr4:8501400-8501600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
25	chr4:8501400-8501600	Flanking Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr4:8501400-8501600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
27	chr4:8501400-8501600	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
28	chr4:8501400-8501600	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
29	chr4:8501400-8501600	ZNF genes & repeats	Primary T cells from cord blood	blood
30	chr4:8501400-8501600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells	blood
31	chr4:8501400-8501600	ZNF genes & repeats	Primary T helper naive cells from peripheral blood	blood
32	chr4:8501400-8501600	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
33	chr4:8501400-8501600	Flanking Bivalent TSS/Enh	Primary T killer naive cells fromperipheralblood	blood
34	chr4:8501400-8501600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr4:8501400-8501600	ZNF genes & repeats	Adipose Nuclei	Adipose
36	chr4:8501400-8501600	Enhancers	Liver	Liver
37	chr4:8501400-8501600	ZNF genes & repeats	Brain Angular Gyrus	brain
38	chr4:8501400-8501600	ZNF genes & repeats	Brain Anterior Caudate	brain
39	chr4:8501400-8501600	ZNF genes & repeats	Brain Cingulate Gyrus	brain
40	chr4:8501400-8501600	ZNF genes & repeats	Brain Hippocampus Middle	brain
41	chr4:8501400-8501600	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
42	chr4:8501400-8501600	ZNF genes & repeats	Brain Dorsolateral Prefrontal Cortex	brain
43	chr4:8501400-8501600	ZNF genes & repeats	Brain Substantia Nigra	brain
44	chr4:8501400-8501600	ZNF genes & repeats	Colonic Mucosa	Colon
45	chr4:8501400-8501600	ZNF genes & repeats	Fetal Heart	heart
46	chr4:8501400-8501600	ZNF genes & repeats	Fetal Muscle Leg	muscle
47	chr4:8501400-8501600	ZNF genes & repeats	Gastric	stomach
48	chr4:8501400-8501600	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
49	chr4:8501400-8501600	ZNF genes & repeats	Rectal Mucosa Donor 31	rectum
50	chr4:8501400-8501600	Flanking Bivalent TSS/Enh	Rectal Smooth Muscle	rectum

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