Variant report

Variant	rs56212819
Chromosome Location	chr1:84965623-84965624
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:84944599..84947463-chr1:84964878..84967395,3	MCF-7	breast:
2	chr1:84963720..84966570-chr1:84967034..84969757,2	MCF-7	breast:
3	chr1:84961886..84966476-chr1:85082859..85087991,5	K562	blood:
4	chr1:84963193..84965864-chr1:84971131..84972649,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000117133	Chromatin interaction
ENSG00000122432	Chromatin interaction
ENSG00000174021	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs11163971	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11163972	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11163992	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1123981	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11578494	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11586006	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12123381	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12124568	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12124731	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12126584	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12126924	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12136756	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12137559	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12140555	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12143652	0.91[ASN][1000 genomes]
rs12145405	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1395416	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1395417	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1506707	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17109982	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17110030	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17110519	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2271620	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2292808	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs312395	1.00[ASN][1000 genomes]
rs3813605	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3813607	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3922538	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4907076	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4907077	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57245302	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57442052	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74095416	0.80[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs74095424	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74095432	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74095436	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7512922	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7513490	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7514763	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7519606	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7535445	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7536988	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs925740	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830437	chr1:84837524-85001269	Flanking Active TSS Active TSS Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:84946000-84965800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr1:84946000-84967000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr1:84946000-84969600	Weak transcription	Esophagus	oesophagus
4	chr1:84946000-84970400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr1:84946000-84970800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr1:84946800-84967400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr1:84947000-84965800	Strong transcription	HUES64 Cell Line	embryonic stem cell
8	chr1:84947400-84969800	Weak transcription	Aorta	Aorta
9	chr1:84947800-84966000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr1:84947800-84967800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr1:84949600-84968400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr1:84951200-84971000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr1:84952400-84967400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr1:84953800-84968400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr1:84954000-84965800	Strong transcription	Dnd41	blood
16	chr1:84954800-84965800	Strong transcription	HUES48 Cell Line	embryonic stem cell
17	chr1:84954800-84966400	Strong transcription	Primary monocytes fromperipheralblood	blood
18	chr1:84954800-84966800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
19	chr1:84954800-84967000	Strong transcription	Primary T cells fromperipheralblood	blood
20	chr1:84954800-84967600	Strong transcription	Primary hematopoietic stem cells	blood
21	chr1:84954800-84969200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr1:84955000-84965800	Strong transcription	HUES6 Cell Line	embryonic stem cell
23	chr1:84955000-84965800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr1:84955000-84966600	Strong transcription	Fetal Intestine Large	intestine
25	chr1:84955000-84966800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
26	chr1:84955000-84967000	Strong transcription	Rectal Mucosa Donor 29	rectum
27	chr1:84955000-84967200	Strong transcription	Fetal Thymus	thymus
28	chr1:84955000-84967200	Strong transcription	HSMM	muscle
29	chr1:84955000-84967400	Strong transcription	Muscle Satellite Cultured Cells	--
30	chr1:84955000-84967400	Strong transcription	HUVEC	blood vessel
31	chr1:84955000-84967400	Strong transcription	NH-A	brain
32	chr1:84955000-84967400	Strong transcription	NHDF-Ad	bronchial
33	chr1:84955000-84968400	Strong transcription	Monocytes-CD14+_RO01746	blood
34	chr1:84955200-84966000	Strong transcription	Rectal Mucosa Donor 31	rectum
35	chr1:84955200-84966200	Strong transcription	Duodenum Mucosa	Duodenum
36	chr1:84955200-84966400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr1:84955200-84966400	Strong transcription	Hela-S3	cervix
38	chr1:84955200-84966600	Strong transcription	Fetal Lung	lung
39	chr1:84955200-84966800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr1:84955200-84967000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr1:84955200-84967400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr1:84955200-84967400	Strong transcription	Adipose Nuclei	Adipose
43	chr1:84955200-84967400	Strong transcription	Fetal Muscle Trunk	muscle
44	chr1:84955200-84968000	Strong transcription	Osteobl	bone
45	chr1:84955200-84968200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr1:84955200-84968800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr1:84955200-84968800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr1:84955800-84967400	Strong transcription	HMEC	breast
49	chr1:84956000-84969400	Weak transcription	Pancreas	Pancrea
50	chr1:84956800-84966800	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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