Variant report

Variant	rs1440004
Chromosome Location	chr2:64182690-64182691
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	chr2:64178266..64179991-chr2:64182528..64185252,2	K562	blood:

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10171008	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10201844	0.81[EUR][1000 genomes]
rs10207847	0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11125986	0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11682520	0.84[AFR][1000 genomes]
rs12611543	0.83[ASN][1000 genomes]
rs12612549	0.84[EUR][1000 genomes]
rs12612596	0.80[EUR][1000 genomes]
rs12613707	0.80[EUR][1000 genomes]
rs12615049	0.83[ASN][1000 genomes]
rs1362797	0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2080649	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2164735	0.84[ASN][1000 genomes]
rs2165210	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2302809	0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2901636	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs329477	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs329483	0.84[ASN][1000 genomes]
rs329486	0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3980405	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4072113	0.80[EUR][1000 genomes]
rs41291181	0.87[AFR][1000 genomes]
rs6546038	0.86[EUR][1000 genomes]
rs6546039	0.92[EUR][1000 genomes]
rs6546040	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6546042	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs6546043	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs6546046	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6705192	0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6716322	0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6716558	0.84[EUR][1000 genomes]
rs6724024	0.86[ASN][1000 genomes]
rs6727120	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6736556	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs6737855	0.81[EUR][1000 genomes]
rs6746875	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6757168	0.86[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs7420396	0.87[ASN][1000 genomes]
rs7560265	0.93[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs7589241	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7596262	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7602952	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7608885	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1013375	chr2:63969820-64231550	ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv531376	chr2:64094322-64521876	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv521717	chr2:64104132-64186582	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	nsv1002209	chr2:64160385-64238475	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:64114000-64212000	Weak transcription	Small Intestine	intestine
2	chr2:64129600-64201000	Weak transcription	Hela-S3	cervix
3	chr2:64130400-64211200	Weak transcription	Fetal Brain Male	brain
4	chr2:64137400-64204800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr2:64139800-64220600	Weak transcription	Brain Cingulate Gyrus	brain
6	chr2:64140400-64187600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr2:64140400-64188800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr2:64141200-64187600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr2:64141400-64189200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
10	chr2:64142800-64189200	Weak transcription	Brain Substantia Nigra	brain
11	chr2:64154400-64202600	Weak transcription	Spleen	Spleen
12	chr2:64154600-64202600	Weak transcription	Pancreas	Pancrea
13	chr2:64154800-64242600	Weak transcription	Aorta	Aorta
14	chr2:64159600-64197800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr2:64159600-64211600	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr2:64162800-64183600	Weak transcription	HSMMtube	muscle
17	chr2:64163200-64207600	Weak transcription	HUVEC	blood vessel
18	chr2:64165600-64193600	Weak transcription	NHLF	lung
19	chr2:64165800-64202600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr2:64166800-64202600	Weak transcription	HMEC	breast
21	chr2:64168400-64198000	Weak transcription	Fetal Heart	heart
22	chr2:64168600-64188000	Weak transcription	NH-A	brain
23	chr2:64168600-64202600	Weak transcription	Esophagus	oesophagus
24	chr2:64168600-64202600	Weak transcription	K562	blood
25	chr2:64168800-64192800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr2:64168800-64195000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
27	chr2:64168800-64204800	Weak transcription	Psoas Muscle	Psoas
28	chr2:64169000-64189200	Weak transcription	Primary T cells fromperipheralblood	blood
29	chr2:64169000-64215000	Weak transcription	Brain Angular Gyrus	brain
30	chr2:64171800-64194000	Weak transcription	NHEK	skin
31	chr2:64173600-64188600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
32	chr2:64173600-64189200	Weak transcription	Primary B cells from peripheral blood	blood
33	chr2:64173600-64202800	Weak transcription	Fetal Brain Female	brain
34	chr2:64173800-64188000	Weak transcription	GM12878-XiMat	blood
35	chr2:64175200-64203000	Weak transcription	Thymus	Thymus
36	chr2:64175400-64189200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr2:64175400-64193800	Weak transcription	Right Ventricle	heart
38	chr2:64175600-64188000	Weak transcription	Adipose Nuclei	Adipose
39	chr2:64175600-64188600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr2:64175600-64213000	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr2:64175800-64186000	Weak transcription	Muscle Satellite Cultured Cells	--
42	chr2:64175800-64196200	Weak transcription	Stomach Smooth Muscle	stomach
43	chr2:64175800-64196400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr2:64175800-64197800	Weak transcription	Brain Hippocampus Middle	brain
45	chr2:64175800-64199600	Weak transcription	Fetal Stomach	stomach
46	chr2:64175800-64202800	Weak transcription	Gastric	stomach
47	chr2:64176000-64186800	Weak transcription	Fetal Intestine Small	intestine
48	chr2:64176000-64187600	Weak transcription	HUES64 Cell Line	embryonic stem cell
49	chr2:64176000-64197600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
50	chr2:64176000-64202600	Weak transcription	Lung	lung

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