Variant report

Variant	rs56155601
Chromosome Location	chr2:171954471-171954472
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs10173931	0.90[EUR][1000 genomes]
rs10490606	0.87[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs13389859	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs16823191	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs16859087	0.90[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs16859121	0.96[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs16859137	0.97[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs16859167	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs16859176	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs16859177	0.86[EUR][1000 genomes]
rs1863679	0.82[AFR][1000 genomes]
rs2356600	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2356609	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2723245	0.90[EUR][1000 genomes]
rs2723248	0.90[EUR][1000 genomes]
rs2723250	0.88[EUR][1000 genomes]
rs2883940	0.91[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs55644524	0.99[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs55885449	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs55939429	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs55995602	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs55997598	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56004444	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs56134465	0.84[EUR][1000 genomes]
rs56155163	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs56191582	0.90[AFR][1000 genomes];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs56308745	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56382502	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs56934523	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs57173242	0.90[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs57733560	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs58028937	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs58307585	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs58685348	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59841744	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs60396936	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs60730419	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs61105084	0.86[AMR][1000 genomes]
rs6711423	0.86[EUR][1000 genomes]
rs6722196	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6736045	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6746133	0.99[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6750585	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73013435	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73013436	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73013439	0.80[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73013453	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73013465	0.86[EUR][1000 genomes]
rs73017249	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs73017262	0.86[AMR][1000 genomes]
rs73017268	0.86[AMR][1000 genomes]
rs73027220	0.90[EUR][1000 genomes]
rs73027271	0.97[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs73029214	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73976125	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs73976285	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7580756	0.81[AMR][1000 genomes]
rs7591214	0.98[EUR][1000 genomes]
rs7604392	0.94[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs9752051	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv431801	chr2:171721493-171966493	ZNF genes & repeats Strong transcription Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	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:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:171900400-171975400	Weak transcription	Aorta	Aorta
2	chr2:171916600-171970800	Weak transcription	Ovary	ovary
3	chr2:171917000-171956600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr2:171917000-172000800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr2:171929600-171956600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr2:171933200-171981000	Weak transcription	Rectal Smooth Muscle	rectum
7	chr2:171934000-171955800	Weak transcription	Duodenum Mucosa	Duodenum
8	chr2:171937600-171956800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr2:171943400-171959600	Weak transcription	Left Ventricle	heart
10	chr2:171943400-171973800	Weak transcription	NH-A	brain
11	chr2:171943600-171956200	Weak transcription	Placenta	Placenta
12	chr2:171944000-171955000	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr2:171944000-171955400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr2:171944600-171954600	Weak transcription	K562	blood
15	chr2:171944800-171956600	Weak transcription	Thymus	Thymus
16	chr2:171944800-171977400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr2:171946400-171957000	Weak transcription	Pancreas	Pancrea
18	chr2:171946800-171956000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr2:171948800-171955200	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr2:171949200-171973200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr2:171950600-171955200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
22	chr2:171950600-171955200	Weak transcription	Dnd41	blood
23	chr2:171950600-171972000	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr2:171950600-171991200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr2:171950800-171955200	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr2:171951000-171956600	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr2:171951800-171954800	Weak transcription	HepG2	liver
28	chr2:171952400-171955000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
29	chr2:171952600-171954600	Weak transcription	Primary T helper cells PMA-I stimulated	--
30	chr2:171952600-171956600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
31	chr2:171952600-171956600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
32	chr2:171952800-171954600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
33	chr2:171952800-171959000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
34	chr2:171953400-171957200	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr2:171953400-171957400	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
36	chr2:171953400-171957600	ZNF genes & repeats	Primary hematopoietic stem cells	blood
37	chr2:171953400-171957600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr2:171953400-171957600	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr2:171953400-171959600	ZNF genes & repeats	GM12878-XiMat	blood
40	chr2:171953600-171954600	Strong transcription	Primary T cells from cord blood	blood
41	chr2:171953600-171954600	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr2:171953600-171954600	ZNF genes & repeats	Fetal Intestine Small	intestine
43	chr2:171953600-171955200	Strong transcription	Primary B cells from cord blood	blood
44	chr2:171953600-171957200	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr2:171953600-171957600	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr2:171953800-171956400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr2:171954000-171954600	ZNF genes & repeats	Primary Natural Killer cells fromperipheralblood	blood
48	chr2:171954000-171954600	ZNF genes & repeats	Fetal Stomach	stomach
49	chr2:171954000-171957000	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
50	chr2:171954200-171954600	ZNF genes & repeats	Fetal Thymus	thymus

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