Variant report

Variant	rs60396936
Chromosome Location	chr2:171993586-171993587
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:171784395..171785901-chr2:171993554..171995979,2	K562	blood:
2	chr2:171992534..171995319-chr2:172015654..172017975,4	MCF-7	breast:
3	chr2:171992932..171995036-chr2:171997675..172000538,3	MCF-7	breast:
4	chr2:171980528..171986238-chr2:171991327..171994997,6	K562	blood:

Variant related genes	Relation type
ENSG00000115806	Chromatin interaction
ENSG00000198586	Chromatin interaction

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs10173931	0.92[EUR][1000 genomes]
rs10490606	0.85[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs13389859	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16823191	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs16859087	0.88[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs16859121	0.94[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs16859137	0.95[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs16859167	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16859176	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16859177	0.88[EUR][1000 genomes]
rs2356600	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2356609	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2723245	0.92[EUR][1000 genomes]
rs2723248	0.92[EUR][1000 genomes]
rs2723250	0.90[EUR][1000 genomes]
rs2883940	0.89[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs55644524	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs55885449	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs55939429	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55995602	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs55997598	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs56004444	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56134465	0.86[EUR][1000 genomes]
rs56155163	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56155601	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs56191582	0.88[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs56308745	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs56382502	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56934523	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57173242	0.88[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs57733560	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58028937	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs58307585	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs58685348	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs59841744	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60730419	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs61105084	0.86[AMR][1000 genomes]
rs6711423	0.88[EUR][1000 genomes]
rs6722196	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6736045	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6746133	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6750585	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73013435	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73013436	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73013439	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73013453	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73013465	0.88[EUR][1000 genomes]
rs73017249	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs73017262	0.86[AMR][1000 genomes]
rs73017268	0.86[AMR][1000 genomes]
rs73027220	0.92[EUR][1000 genomes]
rs73027271	0.95[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs73029214	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73976125	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs73976285	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7580756	0.81[AMR][1000 genomes]
rs7591214	1.00[EUR][1000 genomes]
rs7604392	0.92[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs9752051	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.84[EUR][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	nsv834456	chr2:171874210-172014659	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:171917000-172000800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr2:171957200-172010400	Weak transcription	HSMM	muscle
3	chr2:171973600-172011000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr2:171974000-171996400	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr2:171974000-172003200	Weak transcription	Fetal Intestine Small	intestine
6	chr2:171974000-172003200	Weak transcription	Fetal Thymus	thymus
7	chr2:171974200-171993600	Weak transcription	Primary hematopoietic stem cells	blood
8	chr2:171974200-171996400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr2:171974200-172002400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr2:171974400-172003200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr2:171984600-172003000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr2:171985600-172006200	Weak transcription	Esophagus	oesophagus
13	chr2:171986400-171995800	Weak transcription	Primary T cells fromperipheralblood	blood
14	chr2:171986400-171996400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr2:171987400-171999400	Weak transcription	Spleen	Spleen
16	chr2:171988200-172014400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
17	chr2:171988400-171999800	Enhancers	HepG2	liver
18	chr2:171989200-171996600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr2:171989400-171994000	Weak transcription	Colon Smooth Muscle	Colon
20	chr2:171989400-172007000	Weak transcription	Lung	lung
21	chr2:171989800-171996800	Weak transcription	Rectal Smooth Muscle	rectum
22	chr2:171990000-171993600	Weak transcription	Left Ventricle	heart
23	chr2:171990000-171994800	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr2:171990000-171996400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr2:171990000-172016000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr2:171990200-171994400	Enhancers	Primary T helper cells PMA-I stimulated	--
27	chr2:171990200-171994800	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr2:171990200-171997400	Weak transcription	Stomach Smooth Muscle	stomach
29	chr2:171990400-171994600	Weak transcription	Primary T cells from cord blood	blood
30	chr2:171990400-171995800	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr2:171990600-172004800	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr2:171990800-172001200	Weak transcription	Primary B cells from cord blood	blood
33	chr2:171991200-171997400	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr2:171991600-171993600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr2:171991600-171996600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
36	chr2:171991600-171998000	Weak transcription	Aorta	Aorta
37	chr2:171991800-171995000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
38	chr2:171992000-171994200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
39	chr2:171992200-171994200	Flanking Active TSS	GM12878-XiMat	blood
40	chr2:171992200-171995800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr2:171992200-171997200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
42	chr2:171992200-171999800	Enhancers	Primary T helper cells fromperipheralblood	blood
43	chr2:171992400-171993600	Genic enhancers	K562	blood
44	chr2:171992400-171993800	Enhancers	Primary neutrophils fromperipheralblood	blood
45	chr2:171992400-171994200	Enhancers	Sigmoid Colon	Sigmoid Colon
46	chr2:171992600-171993800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
47	chr2:171992800-171994200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr2:171992800-171994200	Enhancers	Primary hematopoietic stem cells short term culture	blood
49	chr2:171992800-171994200	Enhancers	Pancreas	Pancrea
50	chr2:171993000-171993600	Enhancers	Pancreatic Islets	Pancreatic Islet

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