Variant report

Variant	rs2555921
Chromosome Location	chr2:171914417-171914418
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:171830334..171832213-chr2:171912666..171915147,2	K562	blood:
2	chr2:171829457..171832213-chr2:171912666..171915097,2	K562	blood:

Extended variants
information (count: 67 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:65)

rs_ID	r²[population]
rs10168109	1.00[EUR][1000 genomes]
rs10173304	1.00[EUR][1000 genomes]
rs10174275	1.00[EUR][1000 genomes]
rs10204442	1.00[EUR][1000 genomes]
rs10754976	1.00[EUR][1000 genomes]
rs10803856	1.00[EUR][1000 genomes]
rs10930452	1.00[EUR][1000 genomes]
rs12621215	1.00[EUR][1000 genomes]
rs13382924	1.00[EUR][1000 genomes]
rs13385649	1.00[EUR][1000 genomes]
rs13395368	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13408916	1.00[EUR][1000 genomes]
rs13415374	1.00[EUR][1000 genomes]
rs13417630	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13418838	1.00[EUR][1000 genomes]
rs13422667	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13426912	1.00[EUR][1000 genomes]
rs13428121	1.00[EUR][1000 genomes]
rs1863773	1.00[EUR][1000 genomes]
rs2033161	1.00[EUR][1000 genomes]
rs2052809	1.00[EUR][1000 genomes]
rs2059722	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2217151	1.00[EUR][1000 genomes]
rs2217184	1.00[EUR][1000 genomes]
rs2247657	1.00[EUR][1000 genomes]
rs2356372	1.00[EUR][1000 genomes]
rs2555919	1.00[EUR][1000 genomes]
rs2555920	1.00[EUR][1000 genomes]
rs2555923	1.00[EUR][1000 genomes]
rs2555924	1.00[EUR][1000 genomes]
rs2555925	1.00[EUR][1000 genomes]
rs2555927	1.00[EUR][1000 genomes]
rs2557800	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2557801	1.00[EUR][1000 genomes]
rs2557805	1.00[EUR][1000 genomes]
rs2676129	1.00[EUR][1000 genomes]
rs2676134	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2676135	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2676146	1.00[EUR][1000 genomes]
rs2676148	1.00[EUR][1000 genomes]
rs2723237	1.00[EUR][1000 genomes]
rs2723244	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2723246	1.00[EUR][1000 genomes]
rs2723247	1.00[EUR][1000 genomes]
rs28499279	1.00[EUR][1000 genomes]
rs28641775	1.00[EUR][1000 genomes]
rs4027753	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4668365	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4668366	1.00[EUR][1000 genomes]
rs4668367	1.00[EUR][1000 genomes]
rs6433274	1.00[EUR][1000 genomes]
rs6433279	1.00[EUR][1000 genomes]
rs6433280	1.00[EUR][1000 genomes]
rs6721080	1.00[EUR][1000 genomes]
rs6722314	1.00[EUR][1000 genomes]
rs6732108	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6735986	1.00[EUR][1000 genomes]
rs6749884	1.00[EUR][1000 genomes]
rs6751462	1.00[EUR][1000 genomes]
rs6761606	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73027301	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7560590	1.00[EUR][1000 genomes]
rs7582081	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7584937	1.00[EUR][1000 genomes]
rs964171	1.00[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:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:171831400-171916200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr2:171841600-171940000	Weak transcription	Right Ventricle	heart
3	chr2:171862600-171918400	Weak transcription	Brain Germinal Matrix	brain
4	chr2:171862800-171931200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr2:171867800-171916200	Weak transcription	Gastric	stomach
6	chr2:171874800-171916200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr2:171878000-171943200	Weak transcription	Small Intestine	intestine
8	chr2:171878800-171940000	Weak transcription	Stomach Mucosa	stomach
9	chr2:171883600-171916200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr2:171890400-171917600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr2:171892400-171943400	Weak transcription	Spleen	Spleen
12	chr2:171892600-171916200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr2:171892600-171918200	Strong transcription	Monocytes-CD14+_RO01746	blood
14	chr2:171892800-171916200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr2:171892800-171918000	Weak transcription	NHLF	lung
16	chr2:171893200-171918400	Weak transcription	Fetal Brain Female	brain
17	chr2:171895000-171918000	Strong transcription	Primary monocytes fromperipheralblood	blood
18	chr2:171895400-171917600	Strong transcription	Rectal Mucosa Donor 31	rectum
19	chr2:171895800-171918000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr2:171897200-171917600	Strong transcription	Primary B cells from cord blood	blood
21	chr2:171898200-171916200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr2:171898200-171916200	Weak transcription	Ovary	ovary
23	chr2:171898200-171916200	Weak transcription	Thymus	Thymus
24	chr2:171898200-171916400	Weak transcription	Lung	lung
25	chr2:171898200-171928800	Weak transcription	Fetal Stomach	stomach
26	chr2:171898200-171946200	Weak transcription	Pancreas	Pancrea
27	chr2:171899800-171914800	Strong transcription	Primary B cells from peripheral blood	blood
28	chr2:171899800-171916200	Strong transcription	Fetal Thymus	thymus
29	chr2:171900000-171940000	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr2:171900200-171918400	Strong transcription	Dnd41	blood
31	chr2:171900200-171936400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
32	chr2:171900200-171937800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
33	chr2:171900400-171916200	Weak transcription	H9 Cell Line	embryonic stem cell
34	chr2:171900400-171916200	Weak transcription	Psoas Muscle	Psoas
35	chr2:171900400-171975400	Weak transcription	Aorta	Aorta
36	chr2:171902000-171916200	Weak transcription	Left Ventricle	heart
37	chr2:171902000-171916200	Weak transcription	Sigmoid Colon	Sigmoid Colon
38	chr2:171902000-171918000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
39	chr2:171902000-171924200	Weak transcription	Fetal Intestine Small	intestine
40	chr2:171902400-171918200	Weak transcription	Colonic Mucosa	Colon
41	chr2:171903000-171940000	Weak transcription	Skeletal Muscle Female	skeletal muscle
42	chr2:171903400-171916800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
43	chr2:171904000-171921000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
44	chr2:171904800-171917600	Strong transcription	Primary T helper cells fromperipheralblood	blood
45	chr2:171904800-171917800	Strong transcription	HUES48 Cell Line	embryonic stem cell
46	chr2:171904800-171918200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
47	chr2:171905000-171917800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
48	chr2:171905600-171921200	Weak transcription	Brain Inferior Temporal Lobe	brain
49	chr2:171905800-171916000	Weak transcription	Brain Hippocampus Middle	brain
50	chr2:171905800-171916000	Weak transcription	Fetal Muscle Trunk	muscle

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