Variant report

Variant	rs10495221
Chromosome Location	chr1:224558208-224558209
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:224545747..224547349-chr1:224557974..224560385,2	K562	blood:

Extended variants
information (count: 94 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:89)

rs_ID	r²[population]
rs10495218	0.96[YRI][hapmap];0.82[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs11800357	0.86[AMR][1000 genomes]
rs11801211	1.00[EUR][1000 genomes]
rs11802182	1.00[EUR][1000 genomes]
rs11804538	0.86[AMR][1000 genomes]
rs11807149	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11809688	0.83[YRI][hapmap];0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11809710	0.96[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11810160	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11811935	1.00[EUR][1000 genomes]
rs11812007	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12239466	1.00[EUR][1000 genomes]
rs1401319	1.00[EUR][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	0.86[YRI][hapmap];0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16847784	0.82[YRI][hapmap];0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16847858	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16847867	0.96[YRI][hapmap]
rs16847870	0.83[YRI][hapmap];0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16847871	0.82[YRI][hapmap];0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16848356	0.83[YRI][hapmap]
rs16849419	1.00[EUR][1000 genomes]
rs16849547	1.00[EUR][1000 genomes]
rs1857042	0.86[YRI][hapmap];0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2068945	1.00[EUR][1000 genomes]
rs2211327	0.86[AMR][1000 genomes]
rs2794805	1.00[EUR][1000 genomes]
rs4653586	1.00[EUR][1000 genomes]
rs55712053	1.00[EUR][1000 genomes]
rs57102803	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs57469223	1.00[EUR][1000 genomes]
rs57719044	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57967341	1.00[EUR][1000 genomes]
rs58304668	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58649883	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58788859	1.00[EUR][1000 genomes]
rs58814229	1.00[EUR][1000 genomes]
rs58954846	1.00[EUR][1000 genomes]
rs59034185	1.00[EUR][1000 genomes]
rs59561838	1.00[EUR][1000 genomes]
rs59577766	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59710928	1.00[EUR][1000 genomes]
rs59734390	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60063902	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60349703	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60627429	0.92[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	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61155217	1.00[EUR][1000 genomes]
rs61278437	0.92[AFR][1000 genomes];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	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6681611	0.83[YRI][hapmap];0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6687424	1.00[EUR][1000 genomes]
rs6691181	1.00[EUR][1000 genomes]
rs6702649	0.89[YRI][hapmap];0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73121865	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73123788	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73123791	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73124491	1.00[EUR][1000 genomes]
rs73124493	1.00[EUR][1000 genomes]
rs73125526	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73125529	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73125533	0.91[AFR][1000 genomes]
rs73125540	0.86[AMR][1000 genomes]
rs73125543	0.88[AFR][1000 genomes]
rs73126411	1.00[EUR][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:5 , 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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:224545400-224559000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:224545800-224562800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr1:224545800-224605000	Weak transcription	Aorta	Aorta
4	chr1:224546000-224563800	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr1:224546000-224564400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr1:224546800-224562200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr1:224547000-224593200	Weak transcription	Stomach Mucosa	stomach
8	chr1:224547400-224561800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr1:224547400-224618600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr1:224547800-224562800	Weak transcription	Pancreas	Pancrea
11	chr1:224547800-224568600	Strong transcription	HUES64 Cell Line	embryonic stem cell
12	chr1:224548000-224576000	Weak transcription	Fetal Brain Male	brain
13	chr1:224550400-224568000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr1:224550800-224564200	Strong transcription	Primary monocytes fromperipheralblood	blood
15	chr1:224550800-224565000	Strong transcription	HUVEC	blood vessel
16	chr1:224551000-224568000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr1:224551200-224560000	Strong transcription	Sigmoid Colon	Sigmoid Colon
18	chr1:224551200-224563600	Strong transcription	Monocytes-CD14+_RO01746	blood
19	chr1:224551200-224565800	Strong transcription	Primary B cells from cord blood	blood
20	chr1:224551400-224561000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr1:224551400-224561400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr1:224551400-224568600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
23	chr1:224551600-224560800	Strong transcription	Duodenum Mucosa	Duodenum
24	chr1:224551600-224566600	Strong transcription	Dnd41	blood
25	chr1:224551600-224568000	Strong transcription	HUES6 Cell Line	embryonic stem cell
26	chr1:224551600-224568400	Strong transcription	HUES48 Cell Line	embryonic stem cell
27	chr1:224551800-224561600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr1:224552000-224561000	Strong transcription	Primary T cells from cord blood	blood
29	chr1:224552000-224564800	Weak transcription	Psoas Muscle	Psoas
30	chr1:224552600-224563800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr1:224552800-224562000	Strong transcription	Osteobl	bone
32	chr1:224552800-224564200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
33	chr1:224552800-224565800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr1:224553000-224561000	Strong transcription	Primary T helper cells fromperipheralblood	blood
35	chr1:224553000-224562800	Strong transcription	Fetal Thymus	thymus
36	chr1:224553000-224562800	Strong transcription	HSMM	muscle
37	chr1:224553000-224564200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr1:224553000-224565000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr1:224553000-224565200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr1:224553200-224562400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr1:224553200-224562800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr1:224553200-224564400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
43	chr1:224553200-224567400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
44	chr1:224553400-224560800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr1:224553400-224561200	Strong transcription	HMEC	breast
46	chr1:224553400-224562200	Strong transcription	Primary neutrophils fromperipheralblood	blood
47	chr1:224553400-224562400	Strong transcription	Cortex derived primary cultured neurospheres	brain
48	chr1:224553400-224565000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr1:224553400-224567000	Strong transcription	Adipose Nuclei	Adipose
50	chr1:224553400-224567400	Strong transcription	H1 Cell Line	embryonic stem cell

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