Variant report

Variant	rs56220133
Chromosome Location	chr15:76556130-76556131
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	SPI1	chr15:76556031-76556289	GM12878	blood:	n/a	n/a
2	SPI1	chr15:76556016-76556310	GM12891	blood:	n/a	n/a
3	SPI1	chr15:76556028-76556287	GM12891	blood:	n/a	n/a
4	POLR2A	chr15:76555475-76558482	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:76554323..76556286-chr15:76566730..76568876,2	K562	blood:

Variant related genes	Relation type
TYRO3P	TF binding region

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs11854972	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11856244	0.86[AMR][1000 genomes]
rs11856470	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11857880	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2469208	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55831300	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs56233972	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56313024	0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59691037	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60261704	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62027004	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62027007	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62027010	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62027014	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62027016	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62027019	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62027054	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62027059	0.80[AFR][1000 genomes];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs62028361	0.92[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs62028382	0.85[AFR][1000 genomes]
rs62028384	0.85[AFR][1000 genomes]
rs62028403	0.80[AFR][1000 genomes]
rs62028410	0.80[AFR][1000 genomes]
rs62028411	0.80[AFR][1000 genomes]
rs62030162	0.86[AMR][1000 genomes]
rs62030163	0.86[AMR][1000 genomes]
rs62030169	0.86[AMR][1000 genomes]
rs62030170	0.86[AMR][1000 genomes]
rs62030172	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs62030183	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs62030184	1.00[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62030186	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62030187	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62030191	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62030230	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs62030234	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62030240	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6495195	0.95[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6495199	0.92[AFR][1000 genomes]
rs7167004	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7175022	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7177769	0.85[AFR][1000 genomes]
rs72736846	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72736862	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72736888	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72736892	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73448114	0.86[AMR][1000 genomes]
rs8042654	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833057	chr15:76367848-76585868	ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Weak transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	nsv527608	chr15:76530267-76562738	ZNF genes & repeats Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:76513200-76559400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr15:76517400-76559400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr15:76546800-76558200	Weak transcription	Brain Angular Gyrus	brain
4	chr15:76550400-76563000	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr15:76550600-76557400	Strong transcription	Stomach Smooth Muscle	stomach
6	chr15:76550600-76559200	ZNF genes & repeats	Fetal Stomach	stomach
7	chr15:76550600-76560400	ZNF genes & repeats	Fetal Intestine Large	intestine
8	chr15:76550600-76562600	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
9	chr15:76550600-76563000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
10	chr15:76550600-76563200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr15:76550600-76563400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
12	chr15:76550600-76563400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr15:76550600-76563600	ZNF genes & repeats	Fetal Intestine Small	intestine
14	chr15:76550600-76564000	ZNF genes & repeats	Primary hematopoietic stem cells	blood
15	chr15:76550600-76578400	Strong transcription	Liver	Liver
16	chr15:76552000-76559400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr15:76553200-76558800	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
18	chr15:76553400-76562800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr15:76553400-76563200	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
20	chr15:76553600-76560800	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
21	chr15:76553600-76561000	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
22	chr15:76553600-76563200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr15:76553800-76556200	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr15:76553800-76556800	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
25	chr15:76553800-76558200	ZNF genes & repeats	Fetal Brain Female	brain
26	chr15:76553800-76562600	ZNF genes & repeats	Primary B cells from cord blood	blood
27	chr15:76553800-76564200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr15:76554000-76560200	Weak transcription	Gastric	stomach
29	chr15:76554000-76560400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
30	chr15:76554000-76563800	ZNF genes & repeats	Dnd41	blood
31	chr15:76554200-76556200	Weak transcription	Placenta Amnion	Placenta Amnion
32	chr15:76554200-76561600	ZNF genes & repeats	Fetal Muscle Leg	muscle
33	chr15:76554200-76562600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
34	chr15:76554200-76562600	ZNF genes & repeats	Fetal Lung	lung
35	chr15:76554400-76556400	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr15:76554400-76557600	ZNF genes & repeats	Fetal Heart	heart
37	chr15:76554600-76556200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
38	chr15:76554600-76556200	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
39	chr15:76554600-76557000	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
40	chr15:76554600-76557400	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
41	chr15:76554600-76560600	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
42	chr15:76554600-76563000	ZNF genes & repeats	Primary B cells from peripheral blood	blood
43	chr15:76555000-76557000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr15:76555000-76557600	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr15:76555000-76557600	ZNF genes & repeats	Thymus	Thymus
46	chr15:76555000-76557600	ZNF genes & repeats	NH-A	brain
47	chr15:76555000-76557800	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr15:76555000-76557800	Strong transcription	Rectal Smooth Muscle	rectum
49	chr15:76555000-76558000	ZNF genes & repeats	Brain Germinal Matrix	brain
50	chr15:76555000-76558200	ZNF genes & repeats	H1 Cell Line	embryonic stem cell

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