Variant report

Variant	rs62386725
Chromosome Location	chr6:13397195-13397196
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:13396129..13398707-chr6:13570124..13572077,2	MCF-7	breast:
2	chr6:13396704..13399515-chr6:13413657..13416189,2	K562	blood:
3	chr6:13354231..13355859-chr6:13396144..13399097,2	K562	blood:
4	chr6:13395967..13397504-chr6:13405065..13407928,2	K562	blood:
5	chr6:13370139..13371642-chr6:13395702..13397966,2	K562	blood:
6	chr6:13383245..13384081-chr6:13397182..13397976,2	MCF-7	breast:

(count:1 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PHACTR1-2	chr6:13397033-13397667	expReg_chr6_941_+

No data

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10807437	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11753720	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11754291	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11758233	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1837701	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2119483	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2327673	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs487607	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs488885	0.80[ASN][1000 genomes]
rs494026	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs500197	0.89[ASN][1000 genomes]
rs513613	0.89[ASN][1000 genomes]
rs520828	0.83[ASN][1000 genomes]
rs523221	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs536916	0.89[ASN][1000 genomes]
rs536998	0.89[ASN][1000 genomes]
rs559612	0.83[ASN][1000 genomes]
rs563662	0.89[ASN][1000 genomes]
rs565013	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62386724	0.83[ASN][1000 genomes]
rs62386727	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7742086	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs821298	0.89[ASN][1000 genomes]
rs821300	0.89[ASN][1000 genomes]
rs9357720	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9474117	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[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:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:13368000-13404600	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr6:13382400-13397600	Weak transcription	Esophagus	oesophagus
3	chr6:13394600-13399000	Enhancers	Primary B cells from peripheral blood	blood
4	chr6:13395000-13399000	Enhancers	Primary hematopoietic stem cells short term culture	blood
5	chr6:13395200-13398000	Enhancers	Rectal Mucosa Donor 31	rectum
6	chr6:13395200-13398600	Enhancers	Primary monocytes fromperipheralblood	blood
7	chr6:13395200-13398800	Enhancers	Primary neutrophils fromperipheralblood	blood
8	chr6:13395200-13398800	Enhancers	Stomach Mucosa	stomach
9	chr6:13395200-13399000	Enhancers	Primary hematopoietic stem cells	blood
10	chr6:13395200-13399200	Enhancers	Adipose Nuclei	Adipose
11	chr6:13395400-13397400	Enhancers	Brain Angular Gyrus	brain
12	chr6:13395400-13397400	Enhancers	Brain Anterior Caudate	brain
13	chr6:13395400-13397400	Enhancers	Pancreas	Pancrea
14	chr6:13395400-13397400	Enhancers	Small Intestine	intestine
15	chr6:13395400-13397600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr6:13395400-13398000	Enhancers	Lung	lung
17	chr6:13395400-13398200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr6:13395400-13398200	Enhancers	Duodenum Mucosa	Duodenum
19	chr6:13395400-13398400	Enhancers	Rectal Mucosa Donor 29	rectum
20	chr6:13395400-13398400	Enhancers	Right Atrium	heart
21	chr6:13395400-13398600	Enhancers	Primary B cells from cord blood	blood
22	chr6:13395400-13398600	Enhancers	Sigmoid Colon	Sigmoid Colon
23	chr6:13395400-13399000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
24	chr6:13395400-13399000	Enhancers	Spleen	Spleen
25	chr6:13395400-13399200	Enhancers	Psoas Muscle	Psoas
26	chr6:13395400-13399200	Enhancers	Skeletal Muscle Male	skeletal muscle
27	chr6:13395400-13399200	Enhancers	A549	lung
28	chr6:13395400-13399400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
29	chr6:13395400-13399400	Enhancers	Skeletal Muscle Female	skeletal muscle
30	chr6:13395400-13399600	Enhancers	Left Ventricle	heart
31	chr6:13395600-13397400	Flanking Active TSS	GM12878-XiMat	blood
32	chr6:13395600-13397800	Enhancers	NHEK	skin
33	chr6:13395600-13399400	Enhancers	Right Ventricle	heart
34	chr6:13395600-13402800	Enhancers	Fetal Heart	heart
35	chr6:13395800-13397200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr6:13395800-13397600	Weak transcription	HSMM	muscle
37	chr6:13396000-13397200	Weak transcription	Fetal Brain Male	brain
38	chr6:13396000-13397800	Weak transcription	Fetal Stomach	stomach
39	chr6:13396000-13398200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr6:13396000-13398200	Enhancers	Colonic Mucosa	Colon
41	chr6:13396000-13398400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr6:13396000-13404400	Weak transcription	Muscle Satellite Cultured Cells	--
43	chr6:13396200-13397200	Weak transcription	Brain Cingulate Gyrus	brain
44	chr6:13396200-13397200	Weak transcription	Fetal Muscle Leg	muscle
45	chr6:13396200-13397200	Weak transcription	HSMMtube	muscle
46	chr6:13396200-13397400	Weak transcription	Fetal Muscle Trunk	muscle
47	chr6:13396200-13397600	Weak transcription	Rectal Smooth Muscle	rectum
48	chr6:13396200-13397800	Enhancers	K562	blood
49	chr6:13396200-13398000	Weak transcription	NH-A	brain
50	chr6:13396200-13398200	Enhancers	Hela-S3	cervix

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