Variant report

Variant	rs519657
Chromosome Location	chr6:13405155-13405156
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:13404530..13406535-chr6:13408392..13410401,3	K562	blood:
2	chr6:13395967..13397504-chr6:13405065..13407928,2	K562	blood:

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs1345031	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1345032	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1550520	0.93[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs1550521	0.88[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs2119481	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2119484	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2165419	0.82[EUR][1000 genomes]
rs4454121	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4715251	0.96[ASN][1000 genomes]
rs4715261	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs476138	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs478630	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs478804	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs480648	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs485804	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs488885	0.93[EUR][1000 genomes]
rs490443	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs494026	0.89[ASN][1000 genomes]
rs500197	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs500293	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs503117	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs508153	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs513613	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs519890	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs520828	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs536916	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs536998	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs544639	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs546507	0.94[ASN][1000 genomes]
rs550403	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs558126	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs558242	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs559565	0.94[ASN][1000 genomes]
rs559612	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs563424	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs563662	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs564361	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs566320	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62386724	0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6458814	0.82[EUR][1000 genomes]
rs6458815	0.82[EUR][1000 genomes]
rs6910652	0.82[EUR][1000 genomes]
rs7742086	0.89[ASN][1000 genomes]
rs821298	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs821299	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs821300	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9370104	0.93[AFR][1000 genomes];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs9395768	0.93[AFR][1000 genomes];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9474117	0.89[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	nsv532021	chr6:13232627-13805381	Active TSS Genic enhancers Strong transcription Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
2	nsv1028533	chr6:13239059-13484814	Enhancers Strong transcription Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv538136	chr6:13239059-13484814	Strong transcription Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv1034016	chr6:13248122-13418225	Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Active TSS ZNF genes & repeats 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	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:13396200-13407000	Weak transcription	Gastric	stomach
2	chr6:13396600-13405800	Weak transcription	HepG2	liver
3	chr6:13398000-13406000	Weak transcription	Lung	lung
4	chr6:13398200-13406800	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr6:13398400-13407400	Weak transcription	Placenta	Placenta
6	chr6:13398600-13406000	Weak transcription	Primary B cells from cord blood	blood
7	chr6:13399200-13406800	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr6:13399400-13405800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr6:13401000-13406000	Weak transcription	Colon Smooth Muscle	Colon
10	chr6:13401600-13407000	Weak transcription	GM12878-XiMat	blood
11	chr6:13401800-13419000	Weak transcription	Primary B cells from peripheral blood	blood
12	chr6:13403600-13409600	Enhancers	Primary monocytes fromperipheralblood	blood
13	chr6:13404000-13406200	Enhancers	Liver	Liver
14	chr6:13404000-13407400	Enhancers	Fetal Heart	heart
15	chr6:13404000-13408800	Enhancers	Brain Angular Gyrus	brain
16	chr6:13404000-13409000	Enhancers	Skeletal Muscle Male	skeletal muscle
17	chr6:13404200-13407200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr6:13404400-13405200	Enhancers	Fetal Muscle Leg	muscle
19	chr6:13404400-13405200	Enhancers	K562	blood
20	chr6:13404400-13405200	Enhancers	NHEK	skin
21	chr6:13404400-13405400	Enhancers	Primary hematopoietic stem cells short term culture	blood
22	chr6:13404400-13405400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
23	chr6:13404400-13405400	Enhancers	Muscle Satellite Cultured Cells	--
24	chr6:13404400-13405400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr6:13404400-13405400	Enhancers	HMEC	breast
26	chr6:13404400-13405400	Enhancers	HSMM	muscle
27	chr6:13404400-13405400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
28	chr6:13404400-13405400	Enhancers	NH-A	brain
29	chr6:13404400-13405600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr6:13404400-13406400	Enhancers	Sigmoid Colon	Sigmoid Colon
31	chr6:13404400-13407200	Enhancers	Brain Inferior Temporal Lobe	brain
32	chr6:13404400-13407400	Enhancers	A549	lung
33	chr6:13404400-13407800	Enhancers	NHLF	lung
34	chr6:13404400-13408200	Enhancers	Brain Cingulate Gyrus	brain
35	chr6:13404400-13408800	Enhancers	Adipose Nuclei	Adipose
36	chr6:13404400-13408800	Enhancers	Left Ventricle	heart
37	chr6:13404400-13408800	Enhancers	Psoas Muscle	Psoas
38	chr6:13404400-13408800	Enhancers	Right Atrium	heart
39	chr6:13404400-13409000	Enhancers	Skeletal Muscle Female	skeletal muscle
40	chr6:13404400-13411400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr6:13404600-13405200	Flanking Active TSS	Osteobl	bone
42	chr6:13404600-13405400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr6:13404600-13405400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr6:13404600-13405400	Enhancers	Aorta	Aorta
45	chr6:13404600-13405400	Enhancers	Small Intestine	intestine
46	chr6:13404600-13405400	Enhancers	HSMMtube	muscle
47	chr6:13404800-13405200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
48	chr6:13404800-13407000	Weak transcription	Fetal Lung	lung
49	chr6:13404800-13408600	Enhancers	Spleen	Spleen
50	chr6:13405000-13405200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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