Variant report

Variant	rs62066407
Chromosome Location	chr17:46235348-46235349
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:46227948..46230342-chr17:46234460..46237346,3	K562	blood:
2	chr17:46234351..46236037-chr17:46239852..46241807,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000141293	Chromatin interaction

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs1002330	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10445339	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10445377	0.81[AFR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10853098	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11079814	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11870056	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11872095	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12150533	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12452956	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12941830	0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12947089	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12948810	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1316657	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17620033	0.87[EUR][1000 genomes]
rs17681336	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1860862	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1860863	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2021752	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2021811	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2041572	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2109982	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2123341	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2278868	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2305433	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs34949267	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3792692	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3792694	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3805363	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3805370	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3805371	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3897986	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3944039	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4794505	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4794517	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4794525	0.85[EUR][1000 genomes]
rs55982346	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62066447	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6504108	0.81[ASN][1000 genomes]
rs67446770	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7210149	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7213876	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7219967	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7220619	0.85[EUR][1000 genomes]
rs7220768	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7220922	0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7223867	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7225435	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7225550	0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7225865	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7501770	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs758999	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs8069064	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs8069263	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs8072282	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs8075270	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs882380	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[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	nsv908576	chr17:46147807-46260366	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:46200400-46236600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
2	chr17:46216400-46251400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
3	chr17:46216600-46235600	Strong transcription	Primary T cells fromperipheralblood	blood
4	chr17:46220800-46249000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr17:46221600-46238400	Weak transcription	Fetal Thymus	thymus
6	chr17:46228400-46236600	Weak transcription	Primary B cells from peripheral blood	blood
7	chr17:46230200-46237400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr17:46230600-46245000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
9	chr17:46231000-46236600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr17:46231000-46243800	Weak transcription	Primary B cells from cord blood	blood
11	chr17:46231800-46238200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr17:46232000-46236600	Weak transcription	A549	lung
13	chr17:46232000-46238000	Weak transcription	Pancreas	Pancrea
14	chr17:46232000-46239000	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr17:46232000-46239800	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr17:46232400-46237000	Weak transcription	Duodenum Mucosa	Duodenum
17	chr17:46232600-46235400	Weak transcription	Fetal Intestine Large	intestine
18	chr17:46233400-46238200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
19	chr17:46234000-46237000	Weak transcription	HSMMtube	muscle
20	chr17:46234000-46240600	Weak transcription	Primary hematopoietic stem cells	blood
21	chr17:46234200-46236200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr17:46234200-46236400	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr17:46234200-46236400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr17:46234200-46236400	Weak transcription	Fetal Kidney	kidney
25	chr17:46234200-46236600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr17:46234200-46236800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
27	chr17:46234200-46238000	Weak transcription	Thymus	Thymus
28	chr17:46234400-46236200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr17:46234400-46237600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
30	chr17:46234400-46238400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr17:46234400-46239600	Weak transcription	GM12878-XiMat	blood
32	chr17:46234400-46240600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr17:46234600-46236200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
34	chr17:46234600-46236400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
35	chr17:46234600-46236600	Weak transcription	Primary T helper cells PMA-I stimulated	--
36	chr17:46234600-46236800	Weak transcription	Primary T cells from cord blood	blood
37	chr17:46234800-46236400	Weak transcription	Primary T helper cells fromperipheralblood	blood
38	chr17:46235200-46235600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr17:46235200-46236600	Weak transcription	Liver	Liver

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