Variant report

Variant	rs1545039
Chromosome Location	chr19:38634723-38634724
allele	A/C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:38633389..38636227-chr19:38637615..38640869,3	K562	blood:
2	chr19:38633263..38636587-chr19:38638025..38640526,3	K562	blood:
3	chr19:38634157..38637003-chr19:38638873..38642073,3	MCF-7	breast:
4	chr19:38625391..38627747-chr19:38633636..38636533,2	MCF-7	breast:

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10460171	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11083447	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12460188	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12975576	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12976860	0.80[EUR][1000 genomes]
rs12984016	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12984380	0.87[EUR][1000 genomes]
rs12984864	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12985707	0.96[CEU][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1962866	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2004981	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2010234	1.00[CEU][hapmap];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2016074	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2116862	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2163817	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2304132	1.00[CEU][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2382972	0.91[EUR][1000 genomes]
rs2382973	0.91[EUR][1000 genomes]
rs2569517	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs332841	0.88[CEU][hapmap]
rs332845	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs332846	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs332852	0.80[EUR][1000 genomes]
rs332854	0.87[EUR][1000 genomes]
rs332857	0.96[CEU][hapmap];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs332859	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs332860	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs332861	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs332862	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs332863	0.96[CEU][hapmap];0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34646932	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35467693	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35469521	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs35972455	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3852910	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3852911	0.96[CEU][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4802248	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4803805	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4803808	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs67910767	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs71337549	0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7253312	0.96[CEU][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7253633	0.96[CEU][hapmap];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7258019	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs8100956	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8107385	1.00[CEU][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs855617	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[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	nsv949296	chr19:38034722-38763140	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
2	nsv833821	chr19:38629937-38756792	Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:38591800-38642800	Weak transcription	Small Intestine	intestine
2	chr19:38600600-38652800	Weak transcription	NHDF-Ad	bronchial
3	chr19:38610800-38643600	Weak transcription	HepG2	liver
4	chr19:38611000-38652800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr19:38611600-38634800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr19:38611600-38634800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr19:38611600-38641400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr19:38611600-38653000	Weak transcription	HUVEC	blood vessel
9	chr19:38611800-38642600	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr19:38611800-38653000	Weak transcription	Fetal Kidney	kidney
11	chr19:38613600-38634800	Weak transcription	Primary T cells fromperipheralblood	blood
12	chr19:38613800-38635600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr19:38613800-38636600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr19:38613800-38639000	Weak transcription	Left Ventricle	heart
15	chr19:38613800-38641800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
16	chr19:38613800-38643200	Weak transcription	Primary T helper cells PMA-I stimulated	--
17	chr19:38613800-38652200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr19:38613800-38652600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
19	chr19:38614000-38634800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr19:38616000-38652600	Strong transcription	Primary B cells from peripheral blood	blood
21	chr19:38616200-38641600	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr19:38616600-38642000	Weak transcription	Dnd41	blood
23	chr19:38617000-38652000	Strong transcription	Fetal Intestine Small	intestine
24	chr19:38618200-38651000	Strong transcription	Fetal Intestine Large	intestine
25	chr19:38619600-38647800	Strong transcription	Fetal Stomach	stomach
26	chr19:38621600-38642800	Weak transcription	NHLF	lung
27	chr19:38622200-38636800	Weak transcription	Brain Anterior Caudate	brain
28	chr19:38622600-38641800	Weak transcription	Aorta	Aorta
29	chr19:38622800-38634800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr19:38623000-38635200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
31	chr19:38623000-38642800	Weak transcription	Monocytes-CD14+_RO01746	blood
32	chr19:38624400-38652400	Weak transcription	Fetal Thymus	thymus
33	chr19:38626000-38643400	Weak transcription	Placenta	Placenta
34	chr19:38626400-38635200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr19:38626400-38642000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr19:38626400-38643400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr19:38626400-38652200	Strong transcription	A549	lung
38	chr19:38626600-38635600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr19:38626600-38641000	Weak transcription	Hela-S3	cervix
40	chr19:38626600-38643600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr19:38626800-38635600	Weak transcription	NHEK	skin
42	chr19:38626800-38646000	Weak transcription	HMEC	breast
43	chr19:38627000-38652400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr19:38627600-38642800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr19:38628400-38652600	Weak transcription	Right Atrium	heart
46	chr19:38628600-38645000	Strong transcription	Sigmoid Colon	Sigmoid Colon
47	chr19:38628800-38636600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr19:38628800-38637800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr19:38628800-38645200	Strong transcription	Duodenum Mucosa	Duodenum
50	chr19:38628800-38646400	Strong transcription	Rectal Mucosa Donor 29	rectum

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