Variant report

Variant	rs57264750
Chromosome Location	chr15:82466738-82466739
allele	A/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	RUNX3	chr15:82466493-82467091	GM12878	blood:	n/a	n/a
2	ZNF384	chr15:82466648-82466848	GM12878	blood:	n/a	n/a
3	EBF1	chr15:82466542-82466755	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
RNU1-77P	TF binding region

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10152239	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10152266	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10152695	0.97[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12323987	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12439569	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12439679	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12442609	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12442655	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12442682	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12442862	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13380011	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28463928	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs28715426	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs57598148	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58227679	0.82[AMR][1000 genomes]
rs58303451	0.88[AMR][1000 genomes]
rs60341871	0.82[AMR][1000 genomes]
rs60439528	0.82[AMR][1000 genomes]
rs61094688	0.97[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs61413136	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61421773	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61433916	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7167816	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs74030944	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs74030948	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs74030949	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9972386	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv457212	chr15:82454283-82573255	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv570243	chr15:82454283-82573255	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv457213	chr15:82456227-82573255	Enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv570244	chr15:82456227-82573255	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv570245	chr15:82456227-82591082	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv1041040	chr15:82465124-82606410	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:82419200-82470600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr15:82432600-82476400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr15:82432600-82552800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr15:82441400-82469600	Weak transcription	Fetal Brain Male	brain
5	chr15:82444600-82495800	Weak transcription	Fetal Intestine Small	intestine
6	chr15:82451000-82469800	Weak transcription	Psoas Muscle	Psoas
7	chr15:82452600-82470600	Weak transcription	Esophagus	oesophagus
8	chr15:82455400-82466800	Weak transcription	Brain Substantia Nigra	brain
9	chr15:82455400-82475200	Weak transcription	Brain Hippocampus Middle	brain
10	chr15:82455400-82475200	Weak transcription	Pancreas	Pancrea
11	chr15:82455600-82469200	Weak transcription	Brain Anterior Caudate	brain
12	chr15:82455600-82475200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr15:82455800-82467200	Weak transcription	Spleen	Spleen
14	chr15:82455800-82469800	Weak transcription	Ovary	ovary
15	chr15:82456000-82469800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr15:82456000-82475800	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr15:82456000-82475800	Weak transcription	Lung	lung
18	chr15:82456000-82510000	Weak transcription	Thymus	Thymus
19	chr15:82456200-82469000	Weak transcription	Osteobl	bone
20	chr15:82456200-82469600	Weak transcription	HSMMtube	muscle
21	chr15:82456200-82470000	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr15:82456200-82475200	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr15:82456200-82475600	Weak transcription	Fetal Brain Female	brain
24	chr15:82456400-82469400	Weak transcription	HSMM	muscle
25	chr15:82456400-82470600	Weak transcription	Left Ventricle	heart
26	chr15:82456400-82473000	Weak transcription	Fetal Intestine Large	intestine
27	chr15:82456400-82474200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr15:82456400-82475200	Weak transcription	Fetal Muscle Leg	muscle
29	chr15:82456400-82475200	Weak transcription	Stomach Smooth Muscle	stomach
30	chr15:82456400-82475400	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr15:82456400-82475800	Weak transcription	Monocytes-CD14+_RO01746	blood
32	chr15:82456400-82480600	Weak transcription	HUES64 Cell Line	embryonic stem cell
33	chr15:82456400-82487000	Weak transcription	Primary B cells from peripheral blood	blood
34	chr15:82456400-82502200	Weak transcription	Primary T cells fromperipheralblood	blood
35	chr15:82456400-82502400	Weak transcription	Rectal Mucosa Donor 29	rectum
36	chr15:82456400-82502600	Weak transcription	Duodenum Mucosa	Duodenum
37	chr15:82456400-82502800	Weak transcription	Gastric	stomach
38	chr15:82456400-82505400	Weak transcription	Dnd41	blood
39	chr15:82456400-82505600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
40	chr15:82456400-82505600	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chr15:82456600-82466800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
42	chr15:82456600-82474200	Weak transcription	Primary monocytes fromperipheralblood	blood
43	chr15:82456600-82474400	Weak transcription	Rectal Mucosa Donor 31	rectum
44	chr15:82456600-82474400	Weak transcription	Skeletal Muscle Female	skeletal muscle
45	chr15:82456600-82478600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr15:82456600-82497400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
47	chr15:82456800-82475200	Weak transcription	Liver	Liver
48	chr15:82456800-82509800	Weak transcription	Primary T helper cells PMA-I stimulated	--
49	chr15:82457000-82469800	Weak transcription	Aorta	Aorta
50	chr15:82458200-82504800	Weak transcription	Primary T helper cells fromperipheralblood	blood

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