Variant report

Variant	rs73049817
Chromosome Location	chr19:36956009-36956010
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs17707014	0.85[AMR][1000 genomes]
rs17707021	0.90[AMR][1000 genomes]
rs2891868	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4514798	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4806328	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4806333	0.90[AMR][1000 genomes]
rs55743839	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55801623	0.86[AMR][1000 genomes]
rs55830504	0.90[AMR][1000 genomes]
rs55880628	0.87[AMR][1000 genomes]
rs55933007	0.90[AMR][1000 genomes]
rs56054915	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56075402	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56183102	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56246998	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6510549	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7249099	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7259057	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73032465	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73032484	0.90[AMR][1000 genomes]
rs73032489	0.90[AMR][1000 genomes]
rs73032502	0.90[AMR][1000 genomes]
rs73034109	0.90[AMR][1000 genomes]
rs73034142	0.83[AMR][1000 genomes]
rs73049826	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73049844	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73049851	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73049853	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8100340	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8102097	0.87[AMR][1000 genomes]
rs8103168	0.87[ASN][1000 genomes]
rs8103917	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8104087	0.87[ASN][1000 genomes]
rs8104893	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8105973	0.94[AFR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8110140	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8111192	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833816	chr19:36824257-37034287	ZNF genes & repeats Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
2	nsv1067101	chr19:36901010-36956251	ZNF genes & repeats Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
3	nsv1064851	chr19:36910259-37689721	Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
4	nsv911648	chr19:36914171-37047472	Weak transcription Active TSS Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
5	nsv1065698	chr19:36916796-37690124	Active TSS ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
6	nsv543999	chr19:36916796-37690124	Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
7	nsv1067364	chr19:36921204-36985874	ZNF genes & repeats Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
8	nsv529817	chr19:36930549-37654062	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:36936400-36978400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr19:36940800-36959400	Weak transcription	Brain Angular Gyrus	brain
3	chr19:36941000-36959400	Weak transcription	Placenta	Placenta
4	chr19:36941000-36979000	Weak transcription	Hela-S3	cervix
5	chr19:36942400-36962400	Weak transcription	Brain Cingulate Gyrus	brain
6	chr19:36942600-36957200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr19:36942600-36963000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr19:36942600-36966200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr19:36942800-36962200	Weak transcription	Right Ventricle	heart
10	chr19:36943600-36959200	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr19:36944400-36961200	Weak transcription	Left Ventricle	heart
12	chr19:36944800-36969600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr19:36945400-36959400	Weak transcription	Aorta	Aorta
14	chr19:36945800-36979000	Weak transcription	Fetal Heart	heart
15	chr19:36946000-36963000	Weak transcription	K562	blood
16	chr19:36946400-36962200	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr19:36946400-36963400	Weak transcription	NHDF-Ad	bronchial
18	chr19:36946600-36959200	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr19:36947200-36957200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
20	chr19:36947200-36960600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr19:36947600-36977400	ZNF genes & repeats	Liver	Liver
22	chr19:36948000-36962200	Weak transcription	Brain Substantia Nigra	brain
23	chr19:36948200-36960600	Weak transcription	Fetal Kidney	kidney
24	chr19:36948200-36962200	Weak transcription	HSMMtube	muscle
25	chr19:36948400-36961000	Weak transcription	Primary B cells from peripheral blood	blood
26	chr19:36948600-36957000	Weak transcription	Primary B cells from cord blood	blood
27	chr19:36949000-36960800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr19:36949200-36959400	Weak transcription	Brain Hippocampus Middle	brain
29	chr19:36949400-36957000	Weak transcription	HUES48 Cell Line	embryonic stem cell
30	chr19:36949400-36957200	Weak transcription	Fetal Lung	lung
31	chr19:36949400-36957200	Weak transcription	Rectal Smooth Muscle	rectum
32	chr19:36949400-36957400	Weak transcription	Psoas Muscle	Psoas
33	chr19:36949800-36957000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr19:36949800-36957200	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr19:36950200-36958200	Weak transcription	Fetal Muscle Trunk	muscle
36	chr19:36951000-36957000	Weak transcription	Brain Anterior Caudate	brain
37	chr19:36951000-36957800	ZNF genes & repeats	A549	lung
38	chr19:36951200-36957200	Weak transcription	NH-A	brain
39	chr19:36951400-36957000	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr19:36951400-36963000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
41	chr19:36951600-36957200	Weak transcription	Fetal Brain Male	brain
42	chr19:36951800-36957200	Weak transcription	Duodenum Mucosa	Duodenum
43	chr19:36952200-36956400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr19:36952200-36957200	Weak transcription	Adipose Nuclei	Adipose
45	chr19:36952200-36957800	Weak transcription	Stomach Smooth Muscle	stomach
46	chr19:36952400-36956200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
47	chr19:36952400-36957200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr19:36952400-36962200	Weak transcription	Osteobl	bone
49	chr19:36952800-36957200	Weak transcription	HSMM	muscle
50	chr19:36952800-36959800	Weak transcription	Pancreatic Islets	Pancreatic Islet

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