Variant report

Variant	rs12646646
Chromosome Location	chr4:79561853-79561854
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:79549184..79553600-chr4:79560172..79565329,6	K562	blood:
2	chr4:79557761..79562686-chr4:79563110..79568703,4	K562	blood:

Variant related genes	Relation type
ENSG00000251442	Chromatin interaction
ENSG00000200998	Chromatin interaction

Extended variants
information (count: 72 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:71)

rs_ID	r²[population]
rs10001246	0.82[EUR][1000 genomes]
rs10007186	0.84[EUR][1000 genomes]
rs10019240	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10212636	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1107606	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1108907	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11724268	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11724602	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11728013	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11731482	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11733032	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11733269	0.82[EUR][1000 genomes]
rs11736376	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11736602	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11942573	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12233694	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12233707	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12643488	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12650411	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12711032	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13120630	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13138005	0.94[EUR][1000 genomes]
rs1972024	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs28597797	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs34325799	0.84[EUR][1000 genomes]
rs4073678	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4073679	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4074673	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4074674	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4075927	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4077709	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4270605	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4306980	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4353930	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4632683	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4643844	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4975148	0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6533821	0.82[EUR][1000 genomes]
rs6533825	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6533835	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6533842	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6533845	0.84[AMR][1000 genomes]
rs6811335	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6812227	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6812441	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6814739	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6819484	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6824014	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6829061	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6829198	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6834587	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6835210	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6835998	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6836513	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6838443	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6840592	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6845893	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6846346	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6851341	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6854055	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7317	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7657082	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7669674	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7669866	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7670506	0.87[EUR][1000 genomes]
rs7680749	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7680766	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7682984	0.82[EUR][1000 genomes]
rs7689154	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7697461	0.91[EUR][1000 genomes]
rs9998136	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[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:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:79550400-79564200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr4:79551400-79578200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr4:79553200-79563000	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr4:79555400-79562000	Weak transcription	Brain Substantia Nigra	brain
5	chr4:79555600-79564000	Weak transcription	Fetal Intestine Large	intestine
6	chr4:79555800-79566400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr4:79556000-79564000	Weak transcription	Brain Hippocampus Middle	brain
8	chr4:79557200-79568000	Enhancers	Primary B cells from cord blood	blood
9	chr4:79559800-79564000	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr4:79560000-79564000	Weak transcription	Duodenum Mucosa	Duodenum
11	chr4:79560200-79564000	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr4:79560200-79565200	Weak transcription	Primary T cells from cord blood	blood
13	chr4:79560200-79565400	Weak transcription	Primary T helper cells PMA-I stimulated	--
14	chr4:79560200-79565600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr4:79560400-79563000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
16	chr4:79560400-79563200	Weak transcription	Primary monocytes fromperipheralblood	blood
17	chr4:79560400-79563200	Weak transcription	Monocytes-CD14+_RO01746	blood
18	chr4:79560400-79563400	Enhancers	GM12878-XiMat	blood
19	chr4:79560400-79564000	Weak transcription	HMEC	breast
20	chr4:79560600-79564200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr4:79560800-79562800	Weak transcription	Primary hematopoietic stem cells	blood
22	chr4:79561000-79562000	Weak transcription	Primary B cells from peripheral blood	blood
23	chr4:79561000-79562000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr4:79561000-79563200	Weak transcription	Fetal Thymus	thymus
25	chr4:79561000-79564000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr4:79561000-79565400	Weak transcription	NHEK	skin
27	chr4:79561600-79562800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr4:79561600-79565000	Enhancers	Placenta	Placenta
29	chr4:79561600-79568000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr4:79561800-79562000	Weak transcription	NHDF-Ad	bronchial
31	chr4:79561800-79562400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr4:79561800-79566800	Enhancers	K562	blood

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