Variant report

Variant	rs6492992
Chromosome Location	chr15:41524513-41524514
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:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:41522897..41527944-chr15:41573906..41578128,9	K562	blood:
2	chr15:41512004..41513942-chr15:41524174..41526665,2	K562	blood:
3	chr15:41220353..41222997-chr15:41522209..41524671,3	K562	blood:
4	chr15:41524374..41527322-chr15:41542532..41544931,2	K562	blood:
5	chr15:41219463..41223303-chr15:41521190..41526712,8	K562	blood:
6	chr15:41524238..41526423-chr15:41781115..41782836,2	K562	blood:
7	chr15:41406937..41409542-chr15:41521164..41524731,5	K562	blood:
8	chr15:41523711..41525323-chr15:41548065..41550869,2	K562	blood:
9	chr15:41523511..41525481-chr15:41526363..41527921,2	K562	blood:
10	chr15:41522629..41527275-chr15:41575215..41577611,6	K562	blood:
11	chr15:41523451..41525633-chr15:41623235..41625068,3	K562	blood:
12	chr15:41407188..41409566-chr15:41523202..41527124,5	K562	blood:
13	chr15:41307193..41310035-chr15:41522192..41524733,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000128908	Chromatin interaction
ENSG00000104147	Chromatin interaction
ENSG00000137804	Chromatin interaction
ENSG00000247556	Chromatin interaction
ENSG00000128917	Chromatin interaction
ENSG00000187446	Chromatin interaction
ENSG00000259521	Chromatin interaction

Extended variants
information (count: 90 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:87)

rs_ID	r²[population]
rs10152855	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11070321	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11070325	0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs11070326	0.82[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs11855102	0.92[ASN][1000 genomes]
rs11858115	0.82[ASN][1000 genomes]
rs11858678	0.81[ASN][1000 genomes]
rs16971693	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16971700	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1866400	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1965139	0.81[ASN][1000 genomes]
rs1965140	0.81[ASN][1000 genomes]
rs1971131	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2083239	0.88[ASN][1000 genomes]
rs2164996	0.82[ASN][1000 genomes]
rs28409265	0.82[ASN][1000 genomes]
rs28493237	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28495204	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28568756	0.82[ASN][1000 genomes]
rs28615543	0.81[ASN][1000 genomes]
rs28665387	0.84[ASN][1000 genomes]
rs28735224	0.82[ASN][1000 genomes]
rs2899013	0.84[ASN][1000 genomes]
rs41442144	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4258585	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4445868	0.87[ASN][1000 genomes]
rs537244	0.81[ASN][1000 genomes]
rs551482	0.82[ASN][1000 genomes]
rs55756301	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56082289	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56837771	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs57943533	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs58083671	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs58644012	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs59389433	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs59616518	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs59691280	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs60249025	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs60422198	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61495227	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61586152	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6492988	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6492991	0.89[ASN][1000 genomes]
rs6492993	0.88[ASN][1000 genomes]
rs6492994	0.87[ASN][1000 genomes]
rs6492997	0.82[ASN][1000 genomes]
rs66471237	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs66510055	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs66602495	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs67531333	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs68133575	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs690733	0.82[ASN][1000 genomes]
rs691702	0.82[ASN][1000 genomes]
rs7162443	0.84[ASN][1000 genomes]
rs7162503	0.81[ASN][1000 genomes]
rs7165931	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7166205	0.91[ASN][1000 genomes]
rs7166905	0.89[ASN][1000 genomes]
rs7167813	0.82[ASN][1000 genomes]
rs7170049	0.84[ASN][1000 genomes]
rs7170913	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7173086	0.92[ASN][1000 genomes]
rs7175912	0.81[ASN][1000 genomes]
rs7178840	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7179231	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7179676	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7179969	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72737765	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73396329	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73396336	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73396340	0.84[EUR][1000 genomes]
rs8023638	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8026858	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8029792	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs8032589	0.86[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs8035252	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8037302	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs8038834	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8039915	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8039934	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs909023	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs909024	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs909025	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9972345	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9972349	0.84[ASN][1000 genomes]
rs9972622	0.84[ASN][1000 genomes]
rs9972623	0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv457120	chr15:41410705-41546631	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv569231	chr15:41410705-41546631	Weak transcription ZNF genes & repeats Active TSS Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	esv1844058	chr15:41511916-41548948	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:41522400-41524600	Active TSS	Adipose Nuclei	Adipose
2	chr15:41522600-41524600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr15:41522600-41524600	Active TSS	HUES6 Cell Line	embryonic stem cell
4	chr15:41522600-41524600	Active TSS	iPS-18 Cell Line	embryonic stem cell
5	chr15:41522600-41524600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr15:41522600-41524600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr15:41522600-41524600	Active TSS	Duodenum Smooth Muscle	Duodenum
8	chr15:41522600-41524600	Active TSS	Rectal Smooth Muscle	rectum
9	chr15:41522600-41524800	Active TSS	Breast Myoepithelial Primary Cells	Breast
10	chr15:41522600-41524800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr15:41522600-41524800	Active TSS	Duodenum Mucosa	Duodenum
12	chr15:41522600-41524800	Active TSS	Pancreatic Islets	Pancreatic Islet
13	chr15:41522600-41524800	Active TSS	Rectal Mucosa Donor 31	rectum
14	chr15:41522600-41524800	Active TSS	Right Atrium	heart
15	chr15:41522600-41524800	Active TSS	A549	lung
16	chr15:41522600-41524800	Active TSS	HSMM	muscle
17	chr15:41522600-41524800	Active TSS	NHDF-Ad	bronchial
18	chr15:41522600-41525000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr15:41522600-41525200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr15:41522600-41525200	Active TSS	Colonic Mucosa	Colon
21	chr15:41522600-41525400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr15:41522800-41524600	Active TSS	Brain Inferior Temporal Lobe	brain
23	chr15:41522800-41524600	Active TSS	Psoas Muscle	Psoas
24	chr15:41522800-41524600	Active TSS	Right Ventricle	heart
25	chr15:41522800-41524600	Active TSS	Stomach Smooth Muscle	stomach
26	chr15:41522800-41524600	Active TSS	NHLF	lung
27	chr15:41522800-41524800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr15:41522800-41524800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr15:41522800-41524800	Active TSS	Gastric	stomach
30	chr15:41522800-41524800	Active TSS	Skeletal Muscle Male	skeletal muscle
31	chr15:41522800-41525400	Active TSS	Rectal Mucosa Donor 29	rectum
32	chr15:41523000-41524600	Active TSS	Fetal Intestine Large	intestine
33	chr15:41523000-41524800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr15:41523000-41524800	Active TSS	HepG2	liver
35	chr15:41523000-41525000	Active TSS	Fetal Stomach	stomach
36	chr15:41523000-41525000	Active TSS	Stomach Mucosa	stomach
37	chr15:41523200-41524600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr15:41523200-41524600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr15:41523200-41524600	Active TSS	Fetal Adrenal Gland	Adrenal Gland
40	chr15:41523200-41524600	Active TSS	Pancreas	Pancrea
41	chr15:41523200-41524600	Active TSS	HMEC	breast
42	chr15:41523200-41524600	Active TSS	NHEK	skin
43	chr15:41523200-41524800	Active TSS	Liver	Liver
44	chr15:41523200-41524800	Active TSS	Esophagus	oesophagus
45	chr15:41523200-41525000	Active TSS	GM12878-XiMat	blood
46	chr15:41523200-41525200	Active TSS	Fetal Brain Female	brain
47	chr15:41523600-41524600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
48	chr15:41523600-41524800	Active TSS	Brain Germinal Matrix	brain
49	chr15:41523800-41525000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr15:41523800-41525000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin

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