Variant report

Variant	rs2682046
Chromosome Location	chr15:56531429-56531430
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr15:56531075-56531651	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:89991262..89991889-chr15:56531356..56531876,2	Hela-S3	cervix:

Variant related genes	Relation type
TEX9	TF binding region

Extended variants
information (count: 54 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11629483	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs11631191	0.89[ASN][1000 genomes]
rs12905899	0.81[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs12911427	0.92[ASN][1000 genomes]
rs12914640	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1372753	0.86[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs1829542	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2119937	0.81[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs2414464	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2460647	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2460648	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2460650	0.85[EUR][1000 genomes]
rs2682044	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2682049	0.83[EUR][1000 genomes]
rs2682051	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2682053	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2682054	0.85[EUR][1000 genomes]
rs2713923	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2713924	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2713926	0.97[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2713933	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2713936	0.83[AFR][1000 genomes];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2713938	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2713941	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2718915	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2718941	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2725870	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34044869	0.85[ASN][1000 genomes]
rs34144128	0.81[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs34386737	0.83[ASN][1000 genomes]
rs34756325	0.85[ASN][1000 genomes]
rs35082998	0.83[ASN][1000 genomes]
rs35749329	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs35972806	0.86[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs4310791	0.84[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs4310792	0.84[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs4774232	0.80[ASN][1000 genomes]
rs4774847	0.93[ASN][1000 genomes]
rs59432349	0.92[ASN][1000 genomes]
rs62044110	0.88[ASN][1000 genomes]
rs62044111	0.88[ASN][1000 genomes]
rs6493835	0.80[ASN][1000 genomes]
rs7168319	0.85[ASN][1000 genomes]
rs7174823	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs7496025	0.93[ASN][1000 genomes]
rs8024031	0.88[ASN][1000 genomes]
rs8028353	0.81[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs9672886	0.84[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs9672928	0.82[AMR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833019	chr15:56486029-56649933	Transcr. at gene 5' and 3' Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv569547	chr15:56504598-56572176	ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	esv3311802	chr15:56529020-56532537	Flanking Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	esv3311803	chr15:56529020-56532537	ZNF genes & repeats Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv827341	chr15:56529146-56532251	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:56508000-56534400	Weak transcription	Fetal Heart	heart
2	chr15:56509000-56533600	Weak transcription	Osteobl	bone
3	chr15:56514000-56535000	Weak transcription	Pancreas	Pancrea
4	chr15:56514600-56532400	Weak transcription	HSMMtube	muscle
5	chr15:56514800-56534800	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr15:56521400-56532000	ZNF genes & repeats	GM12878-XiMat	blood
7	chr15:56522800-56533600	Weak transcription	Stomach Smooth Muscle	stomach
8	chr15:56524600-56532000	Weak transcription	NHEK	skin
9	chr15:56524600-56532400	Weak transcription	HSMM	muscle
10	chr15:56524600-56533800	Weak transcription	Aorta	Aorta
11	chr15:56524600-56534800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr15:56524800-56531800	Weak transcription	NH-A	brain
13	chr15:56524800-56532000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr15:56524800-56533600	Weak transcription	Brain Hippocampus Middle	brain
15	chr15:56524800-56533600	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr15:56524800-56533800	Weak transcription	Ovary	ovary
17	chr15:56524800-56534800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr15:56524800-56534800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr15:56524800-56534800	Weak transcription	Rectal Smooth Muscle	rectum
20	chr15:56524800-56534800	Weak transcription	Small Intestine	intestine
21	chr15:56524800-56535000	Weak transcription	Esophagus	oesophagus
22	chr15:56525000-56533400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr15:56525000-56533600	Weak transcription	Primary T cells fromperipheralblood	blood
24	chr15:56525400-56533600	Weak transcription	Brain Substantia Nigra	brain
25	chr15:56525400-56534800	Weak transcription	Placenta	Placenta
26	chr15:56525400-56535000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr15:56525600-56532400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr15:56525600-56533600	Weak transcription	Fetal Stomach	stomach
29	chr15:56525600-56535000	Weak transcription	Lung	lung
30	chr15:56525800-56532000	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr15:56525800-56533200	Weak transcription	Primary monocytes fromperipheralblood	blood
32	chr15:56525800-56533400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr15:56525800-56533800	Weak transcription	Fetal Muscle Leg	muscle
34	chr15:56526000-56532400	Weak transcription	Brain Germinal Matrix	brain
35	chr15:56526000-56532400	Weak transcription	NHDF-Ad	bronchial
36	chr15:56526000-56533400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
37	chr15:56526000-56533400	Weak transcription	Fetal Intestine Small	intestine
38	chr15:56526000-56533400	Weak transcription	Thymus	Thymus
39	chr15:56526000-56533600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr15:56526000-56533600	Weak transcription	Brain Angular Gyrus	brain
41	chr15:56526000-56533600	Weak transcription	Rectal Mucosa Donor 31	rectum
42	chr15:56526200-56532400	Weak transcription	Fetal Lung	lung
43	chr15:56526200-56533200	Weak transcription	Hela-S3	cervix
44	chr15:56526200-56534200	Weak transcription	Fetal Intestine Large	intestine
45	chr15:56526400-56532400	Weak transcription	Primary T cells from cord blood	blood
46	chr15:56526400-56533600	Weak transcription	HepG2	liver
47	chr15:56526600-56532200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr15:56526600-56533200	Weak transcription	H1 Cell Line	embryonic stem cell
49	chr15:56526600-56533400	Weak transcription	Liver	Liver
50	chr15:56526600-56533600	Weak transcription	Fetal Kidney	kidney

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