Variant report

Variant	rs7519603
Chromosome Location	chr1:92709219-92709220
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:92707530..92709675-chr1:92712279..92714750,2	K562	blood:

Variant related genes	Relation type
ENSG00000174842	Chromatin interaction

Extended variants
information (count: 84 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:77)

rs_ID	r²[population]
rs10399671	0.87[EUR][1000 genomes]
rs11166127	1.00[CEU][hapmap]
rs11166542	1.00[CEU][hapmap]
rs12071093	1.00[CEU][hapmap]
rs12073894	1.00[CEU][hapmap]
rs12075168	0.87[EUR][1000 genomes]
rs12075243	0.87[EUR][1000 genomes]
rs12098095	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs12142556	1.00[YRI][hapmap]
rs17131599	1.00[CEU][hapmap]
rs17131621	1.00[CEU][hapmap]
rs17131632	0.87[EUR][1000 genomes]
rs17131636	0.87[EUR][1000 genomes]
rs41296171	1.00[EUR][1000 genomes]
rs41313389	1.00[EUR][1000 genomes]
rs4617457	0.88[AMR][1000 genomes]
rs55993081	0.87[EUR][1000 genomes]
rs56297403	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57177520	1.00[EUR][1000 genomes]
rs57217458	1.00[EUR][1000 genomes]
rs58142139	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59278612	1.00[EUR][1000 genomes]
rs60265386	1.00[EUR][1000 genomes]
rs60550001	1.00[EUR][1000 genomes]
rs60755573	1.00[EUR][1000 genomes]
rs60933677	1.00[EUR][1000 genomes]
rs61141829	1.00[EUR][1000 genomes]
rs61185080	1.00[EUR][1000 genomes]
rs61410146	1.00[EUR][1000 genomes]
rs6660858	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs6661028	1.00[EUR][1000 genomes]
rs6662565	1.00[CEU][hapmap]
rs6672838	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs6679259	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6681027	1.00[CEU][hapmap]
rs6681213	1.00[EUR][1000 genomes]
rs6683456	0.87[EUR][1000 genomes]
rs6691918	1.00[CEU][hapmap]
rs6694248	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs6695475	1.00[CEU][hapmap];1.00[YRI][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6702975	1.00[EUR][1000 genomes]
rs6704484	1.00[EUR][1000 genomes]
rs72958740	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72958746	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72958774	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72958781	1.00[EUR][1000 genomes]
rs72958796	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72960815	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72960831	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72960835	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72960847	1.00[EUR][1000 genomes]
rs72960860	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72960870	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72960872	0.87[EUR][1000 genomes]
rs72962640	1.00[EUR][1000 genomes]
rs72962659	0.87[EUR][1000 genomes]
rs74101123	1.00[EUR][1000 genomes]
rs74101131	1.00[EUR][1000 genomes]
rs74101133	1.00[EUR][1000 genomes]
rs74101146	1.00[EUR][1000 genomes]
rs74101152	1.00[EUR][1000 genomes]
rs74101157	1.00[EUR][1000 genomes]
rs74102832	1.00[EUR][1000 genomes]
rs74102844	1.00[EUR][1000 genomes]
rs74102853	1.00[EUR][1000 genomes]
rs74102861	1.00[EUR][1000 genomes]
rs7513631	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7520555	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs7520675	0.87[EUR][1000 genomes]
rs7525174	1.00[EUR][1000 genomes]
rs7527960	0.87[EUR][1000 genomes]
rs7529971	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs7534750	1.00[EUR][1000 genomes]
rs7535181	1.00[CEU][hapmap]
rs7542362	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs7542736	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs9661440	1.00[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1012864	chr1:92067100-92827761	Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv535029	chr1:92067100-92827761	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
3	nsv530438	chr1:92091957-92827760	Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
4	nsv530046	chr1:92277460-92799794	Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
5	nsv871508	chr1:92478130-92781579	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
6	nsv830592	chr1:92669282-92805629	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
7	nsv870667	chr1:92697188-92813741	Active TSS Strong transcription ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:92705600-92726800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr1:92705800-92711400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr1:92705800-92729200	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr1:92707200-92764000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr1:92708200-92741200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr1:92708600-92711400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr1:92708600-92712000	Weak transcription	Osteobl	bone
8	chr1:92708800-92710000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr1:92708800-92710400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr1:92708800-92710600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr1:92708800-92711000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr1:92708800-92712200	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr1:92709000-92711200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr1:92709000-92711600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr1:92709000-92711600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr1:92709000-92711600	Weak transcription	HUVEC	blood vessel
17	chr1:92709000-92712000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
18	chr1:92709000-92712200	Weak transcription	Fetal Lung	lung
19	chr1:92709000-92712200	Weak transcription	Fetal Stomach	stomach
20	chr1:92709000-92717400	Weak transcription	Primary T cells fromperipheralblood	blood
21	chr1:92709000-92718800	Weak transcription	Lung	lung
22	chr1:92709000-92737200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr1:92709000-92762800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
24	chr1:92709200-92710800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr1:92709200-92710800	Weak transcription	Monocytes-CD14+_RO01746	blood
26	chr1:92709200-92711000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr1:92709200-92712200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr1:92709200-92718800	Weak transcription	Pancreas	Pancrea

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