Variant report

Variant	rs62020027
Chromosome Location	chr15:40468094-40468095
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:40464134..40466311-chr15:40467677..40469915,3	K562	blood:
2	chr15:40455615..40458970-chr15:40466942..40470330,4	K562	blood:
3	chr15:40460905..40463458-chr15:40465734..40469954,4	K562	blood:

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs11853477	1.00[ASN][1000 genomes]
rs11858747	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12148261	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1494533	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1680156	1.00[ASN][1000 genomes]
rs17668261	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17668415	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1801389	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3759843	1.00[ASN][1000 genomes]
rs62019997	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs62020025	0.84[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs62020029	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62020031	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62020050	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7165187	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7171605	1.00[ASN][1000 genomes]
rs7173181	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7182070	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7183293	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74011373	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8023415	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530816	chr15:40003136-40586792	Bivalent Enhancer Strong transcription Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:40453800-40474600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr15:40453800-40525000	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr15:40454000-40471000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr15:40454000-40474600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr15:40454000-40515200	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr15:40454200-40471400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr15:40454600-40502400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr15:40454800-40474400	Weak transcription	Primary B cells from cord blood	blood
9	chr15:40454800-40524200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr15:40455000-40474600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr15:40455000-40474600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr15:40455400-40468800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr15:40455400-40530400	Weak transcription	Fetal Brain Female	brain
14	chr15:40455600-40470800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr15:40455600-40477600	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr15:40455600-40518200	Strong transcription	HUES6 Cell Line	embryonic stem cell
17	chr15:40455600-40522200	Strong transcription	HUES48 Cell Line	embryonic stem cell
18	chr15:40455600-40530400	Weak transcription	Brain Germinal Matrix	brain
19	chr15:40456000-40470600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr15:40456200-40469000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
21	chr15:40456200-40471600	Strong transcription	H1 Cell Line	embryonic stem cell
22	chr15:40456200-40471600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
23	chr15:40456200-40524000	Strong transcription	HUES64 Cell Line	embryonic stem cell
24	chr15:40456200-40524000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
25	chr15:40456600-40471400	Strong transcription	Fetal Thymus	thymus
26	chr15:40457000-40471600	Strong transcription	Monocytes-CD14+_RO01746	blood
27	chr15:40457400-40473200	Strong transcription	Dnd41	blood
28	chr15:40457400-40476000	Weak transcription	Duodenum Mucosa	Duodenum
29	chr15:40461600-40486800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr15:40462200-40474200	Weak transcription	Rectal Mucosa Donor 29	rectum
31	chr15:40462800-40482200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr15:40463800-40468200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr15:40463800-40474200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr15:40463800-40475800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
35	chr15:40463800-40477200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr15:40463800-40478800	Weak transcription	Fetal Intestine Small	intestine
37	chr15:40463800-40481400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr15:40463800-40482000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr15:40463800-40482600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr15:40464000-40474600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr15:40464000-40475800	Weak transcription	Cortex derived primary cultured neurospheres	brain
42	chr15:40464000-40477200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
43	chr15:40464000-40485000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr15:40464000-40490200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr15:40465000-40489600	Weak transcription	Fetal Intestine Large	intestine
46	chr15:40465200-40474400	Weak transcription	Fetal Muscle Leg	muscle
47	chr15:40465200-40474600	Weak transcription	NHEK	skin
48	chr15:40465200-40474600	Weak transcription	Osteobl	bone
49	chr15:40465200-40475400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr15:40465200-40477400	Weak transcription	NHLF	lung

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