Variant report

Variant	rs73047051
Chromosome Location	chr19:41263576-41263577
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:41260700..41263624-chr19:41281746..41284711,4	K562	blood:
2	chr19:41261509..41264476-chr19:41312368..41314936,2	K562	blood:
3	chr19:41260895..41264688-chr19:41281653..41284501,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000167578	Chromatin interaction
ENSG00000269858	Chromatin interaction
ENSG00000261857	Chromatin interaction
ENSG00000171570	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs11665867	1.00[ASN][1000 genomes]
rs11665953	1.00[ASN][1000 genomes]
rs11666504	1.00[ASN][1000 genomes]
rs11667119	1.00[ASN][1000 genomes]
rs11667931	1.00[ASN][1000 genomes]
rs11668042	1.00[ASN][1000 genomes]
rs11672227	1.00[ASN][1000 genomes]
rs11672651	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]
rs55658896	1.00[ASN][1000 genomes]
rs55723406	1.00[ASN][1000 genomes]
rs55856492	1.00[ASN][1000 genomes]
rs56041558	1.00[ASN][1000 genomes]
rs56140728	1.00[ASN][1000 genomes]
rs7253575	1.00[ASN][1000 genomes]
rs7258772	1.00[ASN][1000 genomes]
rs7259121	1.00[ASN][1000 genomes]
rs73035918	1.00[ASN][1000 genomes]
rs73047068	1.00[ASN][1000 genomes]
rs73047073	1.00[ASN][1000 genomes]
rs73047085	1.00[ASN][1000 genomes]
rs73047100	1.00[ASN][1000 genomes]
rs73048915	1.00[ASN][1000 genomes]
rs73048925	1.00[ASN][1000 genomes]
rs8106578	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	esv1830682	chr19:40880127-41270055	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	139 gene(s)	inside rSNPs	diseases
2	esv1800615	chr19:41127465-41270055	Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
3	esv1802033	chr19:41256131-41284240	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	40 gene(s)	inside rSNPs	diseases
4	esv1801805	chr19:41256581-41284363	Strong transcription Genic enhancers Weak transcription Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	37 gene(s)	inside rSNPs	diseases
5	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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:41258000-41283000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr19:41258400-41265200	Weak transcription	Brain Cingulate Gyrus	brain
3	chr19:41258800-41268400	Weak transcription	Psoas Muscle	Psoas
4	chr19:41259000-41275200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr19:41259200-41264200	Weak transcription	Fetal Brain Male	brain
6	chr19:41259200-41272800	Strong transcription	H1 Cell Line	embryonic stem cell
7	chr19:41260200-41263800	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr19:41260200-41266800	Genic enhancers	Spleen	Spleen
9	chr19:41260200-41272000	Strong transcription	H9 Cell Line	embryonic stem cell
10	chr19:41260400-41266600	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr19:41260400-41271800	Strong transcription	ES-I3 Cell Line	embryonic stem cell
12	chr19:41260600-41272400	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr19:41260600-41272600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr19:41260600-41277200	Strong transcription	Fetal Brain Female	brain
15	chr19:41260800-41264200	Weak transcription	Brain Substantia Nigra	brain
16	chr19:41260800-41264200	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr19:41260800-41264400	Genic enhancers	Placenta	Placenta
18	chr19:41260800-41272200	Strong transcription	HUES6 Cell Line	embryonic stem cell
19	chr19:41260800-41272200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
20	chr19:41260800-41272400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
21	chr19:41260800-41272400	Strong transcription	Brain Anterior Caudate	brain
22	chr19:41260800-41283200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr19:41261000-41263600	Genic enhancers	Pancreas	Pancrea
24	chr19:41261000-41271800	Strong transcription	HSMM	muscle
25	chr19:41261000-41272200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr19:41261000-41272200	Strong transcription	Muscle Satellite Cultured Cells	--
27	chr19:41261200-41272200	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr19:41261200-41272200	Strong transcription	Fetal Lung	lung
29	chr19:41261200-41273000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr19:41261200-41273600	Strong transcription	HUES64 Cell Line	embryonic stem cell
31	chr19:41261400-41263600	Genic enhancers	Primary T helper memory cells from peripheral blood 2	blood
32	chr19:41261600-41263800	Genic enhancers	Primary T cells fromperipheralblood	blood
33	chr19:41261600-41267800	Strong transcription	Cortex derived primary cultured neurospheres	brain
34	chr19:41261600-41269000	Strong transcription	Brain Hippocampus Middle	brain
35	chr19:41261600-41272000	Strong transcription	iPS-15b Cell Line	embryonic stem cell
36	chr19:41261600-41272000	Strong transcription	Osteobl	bone
37	chr19:41261600-41272200	Strong transcription	HUES48 Cell Line	embryonic stem cell
38	chr19:41261600-41272200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr19:41261600-41275000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr19:41261600-41275200	Strong transcription	Fetal Muscle Trunk	muscle
41	chr19:41261800-41272000	Strong transcription	Ovary	ovary
42	chr19:41261800-41272200	Strong transcription	Primary hematopoietic stem cells	blood
43	chr19:41261800-41272200	Strong transcription	NHLF	lung
44	chr19:41261800-41272400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr19:41261800-41272400	Strong transcription	Fetal Intestine Large	intestine
46	chr19:41261800-41272400	Strong transcription	Skeletal Muscle Male	skeletal muscle
47	chr19:41261800-41272600	Strong transcription	Right Ventricle	heart
48	chr19:41261800-41276800	Strong transcription	Fetal Intestine Small	intestine
49	chr19:41261800-41278200	Strong transcription	Fetal Stomach	stomach
50	chr19:41261800-41282800	Weak transcription	Right Atrium	heart

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