Variant report

Variant	rs7519719
Chromosome Location	chr1:186318724-186318725
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:186311472..186313994-chr1:186318178..186320741,3	K562	blood:
2	chr1:186310693..186313504-chr1:186318260..186321043,2	MCF-7	breast:
3	chr1:186299950..186302172-chr1:186316943..186319555,2	K562	blood:
4	chr1:186314204..186316218-chr1:186316982..186319288,3	K562	blood:
5	chr1:186318410..186320911-chr1:186337903..186340668,2	K562	blood:

Variant related genes	Relation type
ENSG00000047410	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs1003127	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10911847	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10911849	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10911854	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10911858	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11582844	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12064371	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12069419	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12078527	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12082399	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12084264	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12085497	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12093440	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1547084	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17580052	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2037959	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2273779	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2383479	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2383480	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3737940	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3753564	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3753567	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61810289	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61810292	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61831150	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61831151	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7539128	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1004481	chr1:186095854-186750968	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	nsv535223	chr1:186095854-186750968	Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
3	esv1847807	chr1:186295930-186339878	Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv548399	chr1:186295930-186353461	Bivalent/Poised TSS Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	26 gene(s)	inside rSNPs	diseases
5	esv1822818	chr1:186301447-186441585	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
6	nsv523794	chr1:186316488-186327536	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 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	chr1:186277600-186342600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr1:186278400-186342600	Strong transcription	Monocytes-CD14+_RO01746	blood
3	chr1:186278800-186320400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr1:186279400-186342400	Strong transcription	Fetal Thymus	thymus
5	chr1:186279600-186342400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr1:186280000-186320200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr1:186280000-186340400	Strong transcription	Dnd41	blood
8	chr1:186280000-186342000	Strong transcription	Duodenum Smooth Muscle	Duodenum
9	chr1:186280000-186342400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr1:186280000-186342400	Strong transcription	Primary monocytes fromperipheralblood	blood
11	chr1:186280000-186342400	Strong transcription	Osteobl	bone
12	chr1:186280000-186342600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr1:186280000-186342600	Strong transcription	HSMM	muscle
14	chr1:186280200-186342200	Strong transcription	HUES64 Cell Line	embryonic stem cell
15	chr1:186280400-186342400	Strong transcription	Primary B cells from peripheral blood	blood
16	chr1:186280800-186342600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
17	chr1:186281000-186341800	Strong transcription	Liver	Liver
18	chr1:186281000-186342600	Strong transcription	HUES48 Cell Line	embryonic stem cell
19	chr1:186281200-186338200	Strong transcription	Rectal Mucosa Donor 31	rectum
20	chr1:186281200-186341400	Strong transcription	Primary T cells fromperipheralblood	blood
21	chr1:186281200-186341800	Strong transcription	Adipose Nuclei	Adipose
22	chr1:186281200-186342200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
23	chr1:186281200-186342200	Strong transcription	NH-A	brain
24	chr1:186281400-186341600	Strong transcription	Rectal Mucosa Donor 29	rectum
25	chr1:186281400-186342000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr1:186281400-186342000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
27	chr1:186281400-186342000	Strong transcription	Duodenum Mucosa	Duodenum
28	chr1:186281400-186342200	Strong transcription	Hela-S3	cervix
29	chr1:186281400-186342400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr1:186281400-186342600	Strong transcription	HUES6 Cell Line	embryonic stem cell
31	chr1:186281800-186335600	Strong transcription	HMEC	breast
32	chr1:186281800-186342200	Strong transcription	K562	blood
33	chr1:186282400-186319600	Weak transcription	Stomach Mucosa	stomach
34	chr1:186283400-186341000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
35	chr1:186283800-186327800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr1:186285200-186342200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr1:186287000-186343400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr1:186288000-186319000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
39	chr1:186290000-186342000	Strong transcription	H1 Cell Line	embryonic stem cell
40	chr1:186293200-186340000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
41	chr1:186293800-186340400	Strong transcription	Primary T helper cells fromperipheralblood	blood
42	chr1:186294400-186341000	Strong transcription	Primary T helper cells PMA-I stimulated	--
43	chr1:186294800-186338800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
44	chr1:186295600-186320000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr1:186296600-186341400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
46	chr1:186298200-186323000	Strong transcription	Brain Anterior Caudate	brain
47	chr1:186298200-186338200	Strong transcription	Skeletal Muscle Female	skeletal muscle
48	chr1:186298200-186341400	Strong transcription	Primary B cells from cord blood	blood
49	chr1:186298200-186341400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr1:186298200-186341600	Strong transcription	A549	lung

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