Variant report

Variant	rs12525007
Chromosome Location	chr6:145054953-145054954
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:145053328..145055794-chr6:145055971..145058905,3	K562	blood:

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10499237	0.80[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.87[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs11753714	0.94[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs11754229	0.82[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs11754249	0.85[ASN][1000 genomes]
rs1544157	1.00[ASW][hapmap];0.91[MEX][hapmap]
rs17074210	0.94[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs17074221	0.80[CEU][hapmap];0.94[CHB][hapmap];0.87[CHD][hapmap];0.94[JPT][hapmap];0.91[MEX][hapmap];0.95[TSI][hapmap];0.82[ASN][1000 genomes]
rs17074224	0.82[ASW][hapmap];0.80[CEU][hapmap];0.94[CHB][hapmap];0.87[CHD][hapmap];0.94[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.94[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs4143181	0.80[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap];0.81[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs4266507	0.80[CEU][hapmap];0.94[CHB][hapmap];0.87[CHD][hapmap];0.94[JPT][hapmap];0.96[MEX][hapmap];0.95[TSI][hapmap];0.80[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs4419685	0.83[CEU][hapmap];0.94[JPT][hapmap];0.84[MEX][hapmap];1.00[TSI][hapmap];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4895651	0.86[AMR][1000 genomes]
rs4895653	0.91[AMR][1000 genomes]
rs4895656	0.87[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs4895658	0.87[MEX][hapmap]
rs4896739	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4896741	0.94[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs4896746	0.80[CEU][hapmap];0.88[CHB][hapmap];0.88[JPT][hapmap];0.94[AMR][1000 genomes]
rs4896748	0.80[CEU][hapmap];0.87[AMR][1000 genomes]
rs56901236	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62427228	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62427231	0.94[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs62427233	0.94[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs62427244	0.91[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs62427245	0.88[AMR][1000 genomes]
rs62427246	0.89[AMR][1000 genomes]
rs62427251	0.87[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs62427253	0.87[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs6922804	0.94[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs7744118	0.89[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.80[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs7764891	0.92[EUR][1000 genomes]
rs9497087	0.80[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs9497090	0.80[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap];0.80[AMR][1000 genomes]
rs9497091	0.80[AMR][1000 genomes];0.80[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	nsv1016747	chr6:144917411-145599874	Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv1032838	chr6:144978504-145110121	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv830833	chr6:145001310-145201143	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
4	nsv1021098	chr6:145017386-145106441	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:145011800-145065600	Weak transcription	Pancreas	Pancrea
2	chr6:145011800-145090200	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr6:145011800-145096600	Weak transcription	Thymus	Thymus
4	chr6:145012000-145055600	Weak transcription	Spleen	Spleen
5	chr6:145018400-145069000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr6:145024000-145087200	Weak transcription	Psoas Muscle	Psoas
7	chr6:145038600-145062200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr6:145040000-145094600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr6:145040000-145114600	Weak transcription	NHLF	lung
10	chr6:145043400-145056000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr6:145044200-145069400	Weak transcription	Primary neutrophils fromperipheralblood	blood
12	chr6:145046000-145122200	Weak transcription	Colonic Mucosa	Colon
13	chr6:145047200-145077400	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr6:145047400-145065800	Weak transcription	Stomach Mucosa	stomach
15	chr6:145047600-145056000	Weak transcription	Stomach Smooth Muscle	stomach
16	chr6:145047600-145057800	Weak transcription	Brain Substantia Nigra	brain
17	chr6:145047600-145065800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr6:145047600-145065800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr6:145047600-145065800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr6:145047600-145075000	Weak transcription	Gastric	stomach
21	chr6:145047600-145083400	Weak transcription	Right Ventricle	heart
22	chr6:145047600-145096600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr6:145047600-145115000	Weak transcription	Esophagus	oesophagus
24	chr6:145047600-145115000	Weak transcription	Rectal Smooth Muscle	rectum
25	chr6:145047800-145058000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr6:145047800-145062400	Weak transcription	Small Intestine	intestine
27	chr6:145047800-145066000	Weak transcription	Brain Anterior Caudate	brain
28	chr6:145047800-145079600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr6:145047800-145079600	Weak transcription	NHEK	skin
30	chr6:145048200-145062800	Weak transcription	Fetal Heart	heart
31	chr6:145048600-145056800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr6:145048800-145059200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr6:145049400-145098400	Strong transcription	Primary monocytes fromperipheralblood	blood
34	chr6:145049600-145061200	Strong transcription	Dnd41	blood
35	chr6:145049600-145088800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr6:145049800-145058200	Strong transcription	Primary B cells from cord blood	blood
37	chr6:145050600-145056600	Strong transcription	Primary hematopoietic stem cells	blood
38	chr6:145050600-145061400	Strong transcription	Monocytes-CD14+_RO01746	blood
39	chr6:145050800-145066000	Weak transcription	H9 Cell Line	embryonic stem cell
40	chr6:145051000-145058400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr6:145051000-145058600	Strong transcription	Primary T helper cells fromperipheralblood	blood
42	chr6:145051000-145069200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
43	chr6:145051400-145055400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr6:145051400-145056400	Strong transcription	Fetal Muscle Trunk	muscle
45	chr6:145051400-145058400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr6:145051400-145058400	Strong transcription	HepG2	liver
47	chr6:145051400-145063200	Strong transcription	Primary B cells from peripheral blood	blood
48	chr6:145051600-145065800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
49	chr6:145051800-145065600	Weak transcription	HUES48 Cell Line	embryonic stem cell
50	chr6:145051800-145072200	Weak transcription	Osteobl	bone

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