Variant report

Variant	rs17454024
Chromosome Location	chr2:179972833-179972834
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:179966762..179969783-chr2:179969877..179973075,3	K562	blood:
2	chr2:179967469..179969783-chr2:179970648..179973075,2	K562	blood:

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs1048026	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10497533	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10497534	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11892241	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11900884	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12105478	0.87[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap]
rs16866665	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16866673	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17363183	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17363246	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17363323	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17363393	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17363449	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17363603	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AFR][1000 genomes]
rs17453976	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17454108	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17454150	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17454164	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17454192	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17454458	0.88[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];1.00[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs1838872	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs2008215	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2028906	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2305170	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3731739	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3816345	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4101465	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4499457	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs58582728	1.00[AFR][1000 genomes]
rs60072979	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61179885	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6433759	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6433766	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6725309	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs879539	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][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	nsv949133	chr2:179711376-180124327	Flanking Active TSS ZNF genes & repeats Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
2	nsv1004693	chr2:179933683-180265288	Weak transcription Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:179961600-179974000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr2:179966200-179973000	Weak transcription	Fetal Muscle Trunk	muscle
3	chr2:179966400-179975600	Weak transcription	Aorta	Aorta
4	chr2:179967200-179976800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr2:179967800-179980200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr2:179967800-179982400	Weak transcription	Fetal Brain Male	brain
7	chr2:179967800-180004400	Weak transcription	Esophagus	oesophagus
8	chr2:179969200-179973000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr2:179969400-179980000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr2:179969600-179973000	Enhancers	HMEC	breast
11	chr2:179970000-180004400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr2:179970200-179991000	Weak transcription	Psoas Muscle	Psoas
13	chr2:179970400-179977000	Weak transcription	Lung	lung
14	chr2:179970600-179973800	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr2:179970800-179973000	Enhancers	HSMMtube	muscle
16	chr2:179970800-179973200	Genic enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr2:179970800-179973200	Enhancers	Primary T killer memory cells from peripheral blood	blood
18	chr2:179970800-179973200	Enhancers	Fetal Intestine Small	intestine
19	chr2:179970800-179973200	Enhancers	Pancreatic Islets	Pancreatic Islet
20	chr2:179970800-179973400	Enhancers	HUVEC	blood vessel
21	chr2:179970800-179985800	Strong transcription	Primary B cells from cord blood	blood
22	chr2:179970800-179987000	Strong transcription	Monocytes-CD14+_RO01746	blood
23	chr2:179971000-179973000	Enhancers	NH-A	brain
24	chr2:179971000-179973200	Enhancers	Rectal Mucosa Donor 31	rectum
25	chr2:179971000-179973200	Enhancers	Stomach Mucosa	stomach
26	chr2:179971000-179974000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
27	chr2:179971200-179973000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
28	chr2:179971200-179973000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
29	chr2:179971200-179973000	Weak transcription	Pancreas	Pancrea
30	chr2:179971200-179973000	Enhancers	GM12878-XiMat	blood
31	chr2:179971200-179973200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
32	chr2:179971200-179973200	Enhancers	Primary T helper cells PMA-I stimulated	--
33	chr2:179971200-179973200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr2:179971200-179973200	Enhancers	Hela-S3	cervix
35	chr2:179971200-179973400	Genic enhancers	Dnd41	blood
36	chr2:179971200-179973400	Genic enhancers	HepG2	liver
37	chr2:179971200-179977600	Strong transcription	Fetal Lung	lung
38	chr2:179971200-179977800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr2:179971400-179973000	Enhancers	Primary T helper naive cells from peripheral blood	blood
40	chr2:179971400-179973400	Enhancers	NHLF	lung
41	chr2:179971400-179979200	Weak transcription	Ovary	ovary
42	chr2:179971600-179973200	Enhancers	Primary T helper cells fromperipheralblood	blood
43	chr2:179971600-179974000	Weak transcription	Skeletal Muscle Male	skeletal muscle
44	chr2:179971600-179974200	Weak transcription	HUES6 Cell Line	embryonic stem cell
45	chr2:179971600-179974200	Weak transcription	HUES64 Cell Line	embryonic stem cell
46	chr2:179971600-179977000	Weak transcription	H1 Cell Line	embryonic stem cell
47	chr2:179971600-179977000	Weak transcription	H9 Cell Line	embryonic stem cell
48	chr2:179971600-179977000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
49	chr2:179971600-179979400	Weak transcription	Primary T cells fromperipheralblood	blood
50	chr2:179971600-179991400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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