Variant report

Variant	rs2723247
Chromosome Location	chr2:171874227-171874228
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:171865165..171868164-chr2:171873511..171876613,3	K562	blood:
2	chr2:171873925..171876195-chr2:171877686..171880246,3	K562	blood:
3	chr2:171829582..171831952-chr2:171873813..171875953,2	MCF-7	breast:
4	chr2:171874046..171875948-chr2:171877865..171879808,2	K562	blood:

Extended variants
information (count: 69 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:67)

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[GIH][hapmap];1.00[EUR][1000 genomes]
rs10803856	1.00[EUR][1000 genomes]
rs10930452	1.00[GIH][hapmap];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[EUR][1000 genomes]
rs13408916	1.00[EUR][1000 genomes]
rs13415374	1.00[EUR][1000 genomes]
rs13417630	1.00[EUR][1000 genomes]
rs13418838	1.00[EUR][1000 genomes]
rs13422667	1.00[EUR][1000 genomes]
rs13426912	1.00[EUR][1000 genomes]
rs13428121	1.00[EUR][1000 genomes]
rs1863773	1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2033161	1.00[EUR][1000 genomes]
rs2052809	1.00[EUR][1000 genomes]
rs2059722	1.00[EUR][1000 genomes]
rs2081769	0.89[AFR][1000 genomes]
rs2217151	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2217184	1.00[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2247657	1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2356372	1.00[EUR][1000 genomes]
rs2555919	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2555920	1.00[ASW][hapmap];1.00[GIH][hapmap];0.97[LWK][hapmap];0.98[MKK][hapmap];0.93[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2555921	1.00[EUR][1000 genomes]
rs2555923	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2555924	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2555925	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2555927	1.00[ASW][hapmap];1.00[GIH][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2557795	1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs2557800	1.00[EUR][1000 genomes]
rs2557801	1.00[EUR][1000 genomes]
rs2557805	1.00[EUR][1000 genomes]
rs2676129	0.93[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2676134	1.00[EUR][1000 genomes]
rs2676135	1.00[EUR][1000 genomes]
rs2676146	0.93[YRI][hapmap];0.91[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2676148	1.00[EUR][1000 genomes]
rs2723237	0.93[YRI][hapmap];0.91[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2723244	1.00[EUR][1000 genomes]
rs2723246	1.00[EUR][1000 genomes]
rs28499279	1.00[EUR][1000 genomes]
rs28641775	1.00[EUR][1000 genomes]
rs4027753	1.00[EUR][1000 genomes]
rs4602193	0.84[AFR][1000 genomes]
rs4668366	1.00[EUR][1000 genomes]
rs4668367	1.00[GIH][hapmap];1.00[EUR][1000 genomes]
rs6433274	1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6433279	0.93[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];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[GIH][hapmap];1.00[EUR][1000 genomes]
rs6735986	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6749884	1.00[GIH][hapmap];1.00[EUR][1000 genomes]
rs6751462	1.00[EUR][1000 genomes]
rs6761606	1.00[EUR][1000 genomes]
rs73027301	1.00[EUR][1000 genomes]
rs7560590	1.00[EUR][1000 genomes]
rs7582081	1.00[EUR][1000 genomes]
rs7584937	1.00[GIH][hapmap];1.00[EUR][1000 genomes]
rs964171	1.00[GIH][hapmap];1.00[MEX][hapmap];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:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:171830600-171902800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr2:171830800-171891400	Weak transcription	Spleen	Spleen
3	chr2:171831400-171879200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr2:171831400-171916200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr2:171840800-171879200	Weak transcription	Brain Hippocampus Middle	brain
6	chr2:171841000-171877800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr2:171841000-171895800	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr2:171841600-171940000	Weak transcription	Right Ventricle	heart
9	chr2:171842200-171892000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr2:171842600-171912000	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr2:171843000-171877400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr2:171846000-171898000	Weak transcription	Psoas Muscle	Psoas
13	chr2:171846200-171901000	Weak transcription	Fetal Brain Male	brain
14	chr2:171847400-171902600	Weak transcription	Brain Angular Gyrus	brain
15	chr2:171847800-171878200	Weak transcription	Stomach Mucosa	stomach
16	chr2:171850400-171892000	Weak transcription	Brain Anterior Caudate	brain
17	chr2:171851800-171881800	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr2:171853200-171898800	Weak transcription	Aorta	Aorta
19	chr2:171854000-171877400	Weak transcription	NHLF	lung
20	chr2:171858000-171891800	Weak transcription	Fetal Brain Female	brain
21	chr2:171858000-171892000	Weak transcription	Brain Substantia Nigra	brain
22	chr2:171859400-171892000	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr2:171859600-171876400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr2:171859600-171897000	Weak transcription	Esophagus	oesophagus
25	chr2:171860000-171876400	Weak transcription	Fetal Stomach	stomach
26	chr2:171861600-171877400	Weak transcription	A549	lung
27	chr2:171862200-171874600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr2:171862200-171877400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr2:171862200-171890600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
30	chr2:171862600-171918400	Weak transcription	Brain Germinal Matrix	brain
31	chr2:171862800-171878600	Weak transcription	HSMMtube	muscle
32	chr2:171862800-171879400	Weak transcription	Thymus	Thymus
33	chr2:171862800-171885400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
34	chr2:171862800-171885800	Weak transcription	Ovary	ovary
35	chr2:171862800-171899000	Weak transcription	Brain Cingulate Gyrus	brain
36	chr2:171862800-171931200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr2:171863200-171877400	Weak transcription	NHDF-Ad	bronchial
38	chr2:171863200-171877800	Weak transcription	HUVEC	blood vessel
39	chr2:171863200-171886200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr2:171863200-171896200	Weak transcription	Hela-S3	cervix
41	chr2:171864200-171878600	Weak transcription	H1 Cell Line	embryonic stem cell
42	chr2:171864600-171876200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
43	chr2:171865800-171905000	Weak transcription	Fetal Heart	heart
44	chr2:171867800-171878800	Weak transcription	Fetal Lung	lung
45	chr2:171867800-171898600	Weak transcription	Rectal Smooth Muscle	rectum
46	chr2:171867800-171898800	Weak transcription	Colonic Mucosa	Colon
47	chr2:171867800-171916200	Weak transcription	Gastric	stomach
48	chr2:171868000-171890800	Weak transcription	Skeletal Muscle Female	skeletal muscle
49	chr2:171868200-171875000	Weak transcription	Sigmoid Colon	Sigmoid Colon
50	chr2:171868200-171879000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood

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