Variant report

Variant	rs73922870
Chromosome Location	chr19:19472101-19472102
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:19470787..19473518-chr19:19582679..19585409,2	K562	blood:
2	chr19:19463250..19466094-chr19:19470613..19472204,2	MCF-7	breast:
3	chr19:19469711..19473651-chr19:19475756..19478808,4	K562	blood:
4	chr19:19471483..19473565-chr19:19600423..19601970,2	K562	blood:
5	chr19:19469138..19472356-chr19:19472972..19475692,3	K562	blood:
6	chr19:19256826..19257553-chr19:19471637..19472567,3	MCF-7	breast:
7	chr19:19471807..19473725-chr19:19518188..19520974,2	K562	blood:

Variant related genes	Relation type
ENSG00000129933	Chromatin interaction
ENSG00000167491	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10402799	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10408216	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10413309	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10417312	0.89[AMR][1000 genomes]
rs10417715	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10422331	0.82[AFR][1000 genomes]
rs10422522	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10422620	0.82[AFR][1000 genomes]
rs10423747	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12327663	0.96[AFR][1000 genomes]
rs16996031	0.96[AFR][1000 genomes]
rs16996042	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2106699	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2315280	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28437425	0.92[AFR][1000 genomes]
rs28857503	0.92[AFR][1000 genomes]
rs55877107	0.85[AFR][1000 genomes]
rs56304704	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56317107	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60860168	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7248765	1.00[AMR][1000 genomes]
rs7249940	1.00[AMR][1000 genomes]
rs73922864	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8110508	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv911303	chr19:19256870-19505087	Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv911305	chr19:19303802-19663850	Genic enhancers Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
3	nsv1056419	chr19:19421218-19510611	Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:19435600-19477600	Weak transcription	Fetal Heart	heart
2	chr19:19440400-19475400	Weak transcription	Right Atrium	heart
3	chr19:19454400-19475600	Weak transcription	Fetal Kidney	kidney
4	chr19:19459200-19475400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr19:19460800-19475600	Weak transcription	Psoas Muscle	Psoas
6	chr19:19465200-19483600	Weak transcription	NH-A	brain
7	chr19:19466600-19475600	Weak transcription	NHDF-Ad	bronchial
8	chr19:19466800-19475600	Weak transcription	HMEC	breast
9	chr19:19467200-19475400	Weak transcription	Small Intestine	intestine
10	chr19:19467200-19475600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr19:19467200-19477600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr19:19467400-19473000	Weak transcription	HUVEC	blood vessel
13	chr19:19467400-19475400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr19:19467400-19475600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr19:19467400-19475600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr19:19467400-19475600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr19:19467600-19475600	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr19:19467600-19475600	Weak transcription	HSMM	muscle
19	chr19:19468000-19475400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr19:19468000-19475600	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr19:19468200-19472200	Weak transcription	Ovary	ovary
22	chr19:19468200-19475400	Weak transcription	NHEK	skin
23	chr19:19468200-19477600	Weak transcription	Brain Substantia Nigra	brain
24	chr19:19468400-19472800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr19:19468400-19475400	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr19:19468400-19475400	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr19:19468400-19475400	Weak transcription	Rectal Smooth Muscle	rectum
28	chr19:19468400-19476000	Weak transcription	Left Ventricle	heart
29	chr19:19468400-19477600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr19:19468400-19478000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr19:19468600-19477600	Weak transcription	Fetal Lung	lung
32	chr19:19468800-19472200	Weak transcription	Right Ventricle	heart
33	chr19:19468800-19475600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr19:19468800-19475600	Weak transcription	Placenta Amnion	Placenta Amnion
35	chr19:19469200-19475200	Weak transcription	Primary hematopoietic stem cells	blood
36	chr19:19469200-19475200	Weak transcription	Pancreas	Pancrea
37	chr19:19469200-19475600	Weak transcription	HSMMtube	muscle
38	chr19:19469200-19477600	Weak transcription	Brain Angular Gyrus	brain
39	chr19:19469400-19475400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr19:19469400-19475400	Weak transcription	Duodenum Smooth Muscle	Duodenum
41	chr19:19469400-19475800	Weak transcription	Sigmoid Colon	Sigmoid Colon
42	chr19:19469400-19482000	Weak transcription	Esophagus	oesophagus
43	chr19:19469600-19475400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr19:19469800-19475200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr19:19469800-19475400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr19:19469800-19475400	Weak transcription	Aorta	Aorta
47	chr19:19469800-19475400	Weak transcription	Brain Inferior Temporal Lobe	brain
48	chr19:19469800-19475400	Weak transcription	Colonic Mucosa	Colon
49	chr19:19469800-19475400	Weak transcription	Fetal Intestine Large	intestine
50	chr19:19469800-19475400	Weak transcription	Rectal Mucosa Donor 31	rectum

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