Variant report

Variant	rs11810160
Chromosome Location	chr1:224585344-224585345
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:224583559..224585534-chr1:224598648..224600236,2	K562	blood:

Variant related genes	Relation type
ENSG00000162923	Chromatin interaction

Extended variants
information (count: 87 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:81)

rs_ID	r²[population]
rs10495218	0.86[AMR][1000 genomes]
rs10495221	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11800357	1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs11801211	1.00[EUR][1000 genomes]
rs11802182	1.00[EUR][1000 genomes]
rs11804538	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs11807149	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11809688	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11809710	0.82[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11811935	1.00[EUR][1000 genomes]
rs11812007	1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1317205	0.81[YRI][hapmap];0.81[AFR][1000 genomes]
rs1499284	1.00[EUR][1000 genomes]
rs16846190	1.00[EUR][1000 genomes]
rs16846212	1.00[EUR][1000 genomes]
rs16846293	1.00[EUR][1000 genomes]
rs16846494	1.00[EUR][1000 genomes]
rs16847675	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16847784	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16847858	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16847867	0.82[YRI][hapmap]
rs16847870	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16847871	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16848382	0.86[YRI][hapmap]
rs16849419	1.00[EUR][1000 genomes]
rs16849547	1.00[EUR][1000 genomes]
rs1857042	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2068945	1.00[EUR][1000 genomes]
rs2211327	1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs2794805	1.00[EUR][1000 genomes]
rs4653586	1.00[EUR][1000 genomes]
rs55712053	1.00[EUR][1000 genomes]
rs57102803	0.93[AMR][1000 genomes]
rs57469223	1.00[EUR][1000 genomes]
rs57719044	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57967341	1.00[EUR][1000 genomes]
rs58304668	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58649883	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58788859	1.00[EUR][1000 genomes]
rs58814229	1.00[EUR][1000 genomes]
rs59034185	1.00[EUR][1000 genomes]
rs59577766	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59710928	1.00[EUR][1000 genomes]
rs59734390	1.00[AMR][1000 genomes]
rs60063902	1.00[AMR][1000 genomes]
rs60349703	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60627429	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60715845	1.00[EUR][1000 genomes]
rs60831135	1.00[EUR][1000 genomes]
rs61000820	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61155217	1.00[EUR][1000 genomes]
rs61278437	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61590597	0.86[AMR][1000 genomes]
rs6426167	1.00[EUR][1000 genomes]
rs6658918	1.00[EUR][1000 genomes]
rs6659109	1.00[EUR][1000 genomes]
rs6674133	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6681611	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6687424	1.00[EUR][1000 genomes]
rs6691181	1.00[EUR][1000 genomes]
rs6702649	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73121865	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73123788	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73123791	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73125526	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73125529	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73125540	0.93[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs73128442	1.00[EUR][1000 genomes]
rs73133345	1.00[EUR][1000 genomes]
rs74146372	1.00[EUR][1000 genomes]
rs74146374	1.00[EUR][1000 genomes]
rs74146377	1.00[EUR][1000 genomes]
rs74146381	1.00[EUR][1000 genomes]
rs74146382	1.00[EUR][1000 genomes]
rs74146383	1.00[EUR][1000 genomes]
rs74146384	1.00[EUR][1000 genomes]
rs74146386	1.00[EUR][1000 genomes]
rs74146389	1.00[EUR][1000 genomes]
rs7512165	1.00[EUR][1000 genomes]
rs9661679	1.00[EUR][1000 genomes]
rs9661938	1.00[EUR][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	nsv8868	chr1:224383023-224752531	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv469889	chr1:224440354-224634374	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
3	nsv482318	chr1:224440354-224634374	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	nsv1014717	chr1:224551939-224885543	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
5	nsv535311	chr1:224551939-224885543	Strong transcription Genic enhancers Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
6	nsv160255	chr1:224580069-224589373	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:224545800-224605000	Weak transcription	Aorta	Aorta
2	chr1:224547000-224593200	Weak transcription	Stomach Mucosa	stomach
3	chr1:224547400-224618600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr1:224556000-224591000	Weak transcription	Small Intestine	intestine
5	chr1:224563000-224593400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr1:224565000-224586200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr1:224571000-224594000	Strong transcription	HMEC	breast
8	chr1:224571200-224599400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr1:224571800-224593400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr1:224572000-224594000	Strong transcription	Osteobl	bone
11	chr1:224572000-224617800	Strong transcription	Fetal Thymus	thymus
12	chr1:224572400-224601000	Strong transcription	Skeletal Muscle Female	skeletal muscle
13	chr1:224572400-224617600	Strong transcription	Placenta	Placenta
14	chr1:224572600-224593600	Strong transcription	NHDF-Ad	bronchial
15	chr1:224572600-224593800	Strong transcription	Duodenum Smooth Muscle	Duodenum
16	chr1:224572600-224594000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr1:224572600-224617600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr1:224572600-224617600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr1:224572600-224618400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
20	chr1:224572800-224594400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr1:224573200-224593400	Strong transcription	HUVEC	blood vessel
22	chr1:224573200-224594000	Strong transcription	Muscle Satellite Cultured Cells	--
23	chr1:224573200-224594000	Strong transcription	NH-A	brain
24	chr1:224573200-224594600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
25	chr1:224573200-224618400	Strong transcription	HUES48 Cell Line	embryonic stem cell
26	chr1:224573200-224618400	Strong transcription	HUES6 Cell Line	embryonic stem cell
27	chr1:224573600-224614200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr1:224573600-224618200	Strong transcription	HUES64 Cell Line	embryonic stem cell
29	chr1:224573800-224615200	Strong transcription	Rectal Mucosa Donor 29	rectum
30	chr1:224574000-224589200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
31	chr1:224574000-224595800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
32	chr1:224574000-224599400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr1:224574000-224601600	Strong transcription	Primary B cells from peripheral blood	blood
34	chr1:224574000-224613600	Strong transcription	Adipose Nuclei	Adipose
35	chr1:224574200-224594400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr1:224574600-224613600	Strong transcription	Duodenum Mucosa	Duodenum
37	chr1:224575000-224589400	Strong transcription	Brain Anterior Caudate	brain
38	chr1:224575000-224589400	Strong transcription	Left Ventricle	heart
39	chr1:224575000-224597200	Strong transcription	GM12878-XiMat	blood
40	chr1:224575000-224607600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr1:224575200-224589800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
42	chr1:224575200-224594800	Strong transcription	Fetal Lung	lung
43	chr1:224575200-224607600	Strong transcription	Fetal Intestine Large	intestine
44	chr1:224575200-224613800	Strong transcription	H1 Cell Line	embryonic stem cell
45	chr1:224575200-224616600	Strong transcription	Dnd41	blood
46	chr1:224575200-224616800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr1:224575400-224589400	Strong transcription	Placenta Amnion	Placenta Amnion
48	chr1:224575400-224593400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr1:224576000-224588800	Strong transcription	Skeletal Muscle Male	skeletal muscle
50	chr1:224576000-224590600	Strong transcription	Fetal Kidney	kidney

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