Variant report

Variant	rs73047100
Chromosome Location	chr19:41315671-41315672
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:41222253..41224407-chr19:41315424..41318276,2	K562	blood:
2	chr19:41221543..41224231-chr19:41314588..41316621,2	MCF-7	breast:
3	chr19:41221999..41223753-chr19:41315424..41317151,2	K562	blood:
4	chr19:41280805..41286068-chr19:41308324..41316733,13	K562	blood:
5	chr19:41197857..41200529-chr19:41314192..41315970,2	K562	blood:
6	chr19:41220720..41224635-chr19:41312175..41316788,5	MCF-7	breast:
7	chr19:41253887..41263110-chr19:41303366..41316425,33	K562	blood:

Variant related genes	Relation type
ENSG00000123815	Chromatin interaction
ENSG00000261857	Chromatin interaction
ENSG00000167578	Chromatin interaction
ENSG00000077312	Chromatin interaction
ENSG00000086544	Chromatin interaction
ENSG00000171570	Chromatin interaction
ENSG00000188493	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs11665867	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11665953	1.00[ASN][1000 genomes]
rs11666504	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11667119	1.00[ASN][1000 genomes]
rs11667931	1.00[ASN][1000 genomes]
rs11668042	1.00[ASN][1000 genomes]
rs11672227	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2077407	1.00[ASN][1000 genomes]
rs36012476	1.00[ASN][1000 genomes]
rs4435368	1.00[ASN][1000 genomes]
rs4624303	1.00[ASN][1000 genomes]
rs55652103	1.00[ASN][1000 genomes]
rs55723406	1.00[ASN][1000 genomes]
rs55856492	1.00[ASN][1000 genomes]
rs56041558	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56140728	1.00[ASN][1000 genomes]
rs7258772	1.00[ASN][1000 genomes]
rs7259121	1.00[ASN][1000 genomes]
rs73047051	1.00[ASN][1000 genomes]
rs73047068	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73047073	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73047085	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73048915	0.82[AFR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73048925	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833832	chr19:41260363-41334597	Strong transcription Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	esv2758500	chr19:41291627-41546068	Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	esv2758762	chr19:41291627-41546068	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
4	nsv1066637	chr19:41309211-41597896	Weak transcription Enhancers Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
5	nsv521459	chr19:41313202-41333284	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:41305800-41316200	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr19:41306400-41316200	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
3	chr19:41306400-41316800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr19:41307000-41315800	Genic enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr19:41308400-41316400	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr19:41309000-41316200	Genic enhancers	Placenta	Placenta
7	chr19:41309400-41316000	Genic enhancers	Spleen	Spleen
8	chr19:41309800-41316200	Genic enhancers	Lung	lung
9	chr19:41309800-41316400	Genic enhancers	Primary B cells from peripheral blood	blood
10	chr19:41311200-41316400	Strong transcription	Dnd41	blood
11	chr19:41312400-41316000	Weak transcription	Small Intestine	intestine
12	chr19:41312800-41316000	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr19:41313000-41316000	Genic enhancers	Fetal Muscle Trunk	muscle
14	chr19:41313000-41316400	Weak transcription	Fetal Kidney	kidney
15	chr19:41313200-41315800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr19:41313200-41315800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr19:41313200-41316000	Weak transcription	Fetal Heart	heart
18	chr19:41313400-41315800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr19:41313400-41315800	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
20	chr19:41313400-41315800	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
21	chr19:41313400-41315800	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr19:41313400-41315800	Strong transcription	Rectal Mucosa Donor 29	rectum
23	chr19:41313400-41315800	Strong transcription	Rectal Smooth Muscle	rectum
24	chr19:41313400-41315800	Strong transcription	Thymus	Thymus
25	chr19:41313400-41315800	Strong transcription	HSMM	muscle
26	chr19:41313400-41315800	Strong transcription	Osteobl	bone
27	chr19:41313400-41316000	Strong transcription	Muscle Satellite Cultured Cells	--
28	chr19:41313400-41316000	Strong transcription	NHEK	skin
29	chr19:41313400-41316400	Genic enhancers	Primary T cells fromperipheralblood	blood
30	chr19:41313400-41316400	Genic enhancers	Primary T helper cells PMA-I stimulated	--
31	chr19:41313600-41315800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr19:41313600-41315800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr19:41313600-41315800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
34	chr19:41313600-41315800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr19:41313600-41315800	Genic enhancers	Brain Hippocampus Middle	brain
36	chr19:41313600-41315800	Weak transcription	Psoas Muscle	Psoas
37	chr19:41313600-41315800	Strong transcription	Rectal Mucosa Donor 31	rectum
38	chr19:41313600-41315800	Strong transcription	HUVEC	blood vessel
39	chr19:41313600-41316000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr19:41313600-41316000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr19:41313600-41316000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr19:41313600-41316200	Weak transcription	Pancreatic Islets	Pancreatic Islet
43	chr19:41313600-41316600	Weak transcription	Fetal Brain Male	brain
44	chr19:41313800-41315800	Strong transcription	HUES6 Cell Line	embryonic stem cell
45	chr19:41313800-41315800	Genic enhancers	Primary T helper cells fromperipheralblood	blood
46	chr19:41313800-41315800	Strong transcription	Ovary	ovary
47	chr19:41313800-41316000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr19:41313800-41316000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr19:41313800-41316000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
50	chr19:41313800-41316000	Strong transcription	Fetal Thymus	thymus

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