Variant report

Variant	rs1972024
Chromosome Location	chr4:79532182-79532183
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:79530033..79532299-chr4:79783489..79785388,2	K562	blood:
2	chr4:79531023..79534724-chr4:79692809..79696400,3	K562	blood:
3	chr4:79531270..79533503-chr4:79534064..79536623,2	MCF-7	breast:
4	chr4:79530799..79532363-chr4:79783489..79785979,2	K562	blood:
5	chr4:79517123..79521487-chr4:79529586..79533380,5	K562	blood:
6	chr4:79530292..79533218-chr4:79611643..79613326,2	K562	blood:
7	chr4:79531804..79533751-chr4:79579184..79581879,2	K562	blood:

Variant related genes	Relation type
ENSG00000138772	Chromatin interaction

Extended variants
information (count: 71 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:70)

rs_ID	r²[population]
rs10001246	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10007186	0.83[EUR][1000 genomes]
rs10019240	0.83[EUR][1000 genomes]
rs10212636	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1107606	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1108907	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11724268	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11724602	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11728013	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11731482	0.83[EUR][1000 genomes]
rs11733032	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11733269	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11736376	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11736602	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11942573	0.83[EUR][1000 genomes]
rs12233694	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12233707	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12643488	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12646646	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12650411	0.87[EUR][1000 genomes]
rs12711032	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs13120630	0.83[EUR][1000 genomes]
rs13138005	0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs28597797	0.86[EUR][1000 genomes]
rs34325799	0.83[EUR][1000 genomes]
rs4073678	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4073679	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4074673	0.83[EUR][1000 genomes]
rs4074674	0.83[EUR][1000 genomes]
rs4075927	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4077709	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4270605	0.83[EUR][1000 genomes]
rs4306980	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4353930	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4632683	0.82[EUR][1000 genomes]
rs4643844	0.83[EUR][1000 genomes]
rs4975148	0.96[EUR][1000 genomes]
rs6533821	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6533825	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6533835	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6533842	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6811335	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6812227	0.83[EUR][1000 genomes]
rs6812441	0.83[EUR][1000 genomes]
rs6814739	0.87[EUR][1000 genomes]
rs6819484	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6824014	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6829061	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6829198	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6834587	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6835210	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6835998	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6836513	0.83[EUR][1000 genomes]
rs6838443	0.82[EUR][1000 genomes]
rs6840592	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6845893	0.82[EUR][1000 genomes]
rs6846346	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6851341	0.87[EUR][1000 genomes]
rs6854055	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7317	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7657082	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7669674	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7669866	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7670506	0.87[EUR][1000 genomes]
rs7680749	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7680766	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7682984	0.81[EUR][1000 genomes]
rs7689154	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7697461	0.86[EUR][1000 genomes]
rs9998136	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1009633	chr4:78887573-79652236	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:79490800-79532600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr4:79491200-79535400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr4:79491800-79533200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr4:79491800-79542600	Weak transcription	NH-A	brain
5	chr4:79502400-79532200	Strong transcription	Primary neutrophils fromperipheralblood	blood
6	chr4:79508200-79533600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr4:79512600-79534200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr4:79512600-79536800	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr4:79513800-79534200	Strong transcription	NHEK	skin
10	chr4:79517200-79534800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr4:79518000-79548000	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr4:79518600-79543600	Weak transcription	Stomach Mucosa	stomach
13	chr4:79521400-79534000	Weak transcription	Right Ventricle	heart
14	chr4:79523600-79533800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
15	chr4:79524200-79543400	Weak transcription	A549	lung
16	chr4:79524400-79534000	Weak transcription	Placenta	Placenta
17	chr4:79527800-79533200	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr4:79527800-79533800	Weak transcription	Fetal Stomach	stomach
19	chr4:79527800-79534000	Weak transcription	Spleen	Spleen
20	chr4:79527800-79534800	Weak transcription	Gastric	stomach
21	chr4:79527800-79535200	Weak transcription	Left Ventricle	heart
22	chr4:79527800-79535200	Weak transcription	Lung	lung
23	chr4:79527800-79535400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr4:79527800-79542600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr4:79527800-79542600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr4:79528000-79534800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr4:79528400-79534800	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr4:79528800-79534000	Weak transcription	Stomach Smooth Muscle	stomach
29	chr4:79529200-79533800	Weak transcription	Fetal Intestine Small	intestine
30	chr4:79529400-79537600	Enhancers	Dnd41	blood
31	chr4:79529800-79536200	Enhancers	Primary hematopoietic stem cells short term culture	blood
32	chr4:79529800-79537000	Enhancers	Primary hematopoietic stem cells	blood
33	chr4:79530000-79533000	Strong transcription	Placenta Amnion	Placenta Amnion
34	chr4:79530000-79540000	Enhancers	Primary T cells from cord blood	blood
35	chr4:79530800-79533800	Weak transcription	Fetal Heart	heart
36	chr4:79531000-79532400	Enhancers	Primary T killer memory cells from peripheral blood	blood
37	chr4:79531000-79532800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
38	chr4:79531000-79533000	Enhancers	Primary T helper naive cells from peripheral blood	blood
39	chr4:79531000-79533200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
40	chr4:79531000-79535400	Enhancers	Primary T helper cells PMA-I stimulated	--
41	chr4:79531200-79532200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
42	chr4:79531200-79533400	Enhancers	Primary T helper cells fromperipheralblood	blood
43	chr4:79531200-79536600	Enhancers	Primary B cells from cord blood	blood
44	chr4:79531200-79536800	Enhancers	Primary B cells from peripheral blood	blood
45	chr4:79531400-79532200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr4:79531400-79532600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr4:79531400-79533000	Enhancers	GM12878-XiMat	blood
48	chr4:79531400-79543000	Weak transcription	Hela-S3	cervix
49	chr4:79531600-79532200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr4:79531600-79532200	Enhancers	Primary T regulatory cells fromperipheralblood	blood

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