Variant report

Variant	rs1153973
Chromosome Location	chr1:223996200-223996201
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:223993512..223997338-chr1:224001436..224003914,3	K562	blood:
2	chr1:223993659..223996242-chr1:224032802..224035443,2	K562	blood:
3	chr1:223995561..223997893-chr1:224022146..224025073,2	K562	blood:

Variant related genes	Relation type
ENSG00000143514	Chromatin interaction

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs1003061	0.89[ASN][1000 genomes]
rs1153927	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1153929	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1153930	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1153933	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1153934	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1153936	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1153937	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1153938	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1153943	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1153947	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1153949	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1153971	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1222120	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1222121	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1222124	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1222128	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1222146	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1222156	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1621129	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1629850	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs16842270	0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16842294	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16842321	0.93[ASN][1000 genomes]
rs1981171	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1982610	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1982612	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1982613	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2242188	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28370163	0.92[EUR][1000 genomes]
rs28370164	0.92[EUR][1000 genomes]
rs28370167	0.92[EUR][1000 genomes]
rs28370172	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3738370	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3767709	0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4653457	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56329085	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56918361	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs59104475	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs59196624	0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs60131749	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs60164080	0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs60739082	0.88[ASN][1000 genomes]
rs6604726	0.86[ASN][1000 genomes]
rs6661816	0.90[ASN][1000 genomes]
rs6675712	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6687003	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6694214	0.80[AFR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72749554	0.94[EUR][1000 genomes]
rs72749569	0.94[EUR][1000 genomes]
rs72749588	0.92[ASN][1000 genomes]
rs737066	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs750873	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7536779	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs898878	0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832681	chr1:223698048-224002691	Strong transcription Active TSS Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	esv3361888	chr1:223725597-224114846	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv1007380	chr1:223834380-224042190	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv535310	chr1:223834380-224042190	ZNF genes & repeats Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
5	esv34082	chr1:223851018-224144509	Enhancers Genic enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
6	nsv1008800	chr1:223904653-224061032	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
7	esv2757772	chr1:223935220-224363163	Genic enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
8	esv2759000	chr1:223935220-224363163	Enhancers Weak transcription Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:223956600-224004600	Strong transcription	Primary monocytes fromperipheralblood	blood
2	chr1:223956600-224004600	Strong transcription	Monocytes-CD14+_RO01746	blood
3	chr1:223960200-223998600	Strong transcription	Fetal Thymus	thymus
4	chr1:223960200-224025400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr1:223960600-224001400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr1:223961800-224004400	Strong transcription	HUES48 Cell Line	embryonic stem cell
7	chr1:223964400-224008000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr1:223976800-224003000	Weak transcription	Fetal Heart	heart
9	chr1:223978800-223997200	Strong transcription	Primary T cells fromperipheralblood	blood
10	chr1:223979000-224000800	Strong transcription	Primary T helper cells PMA-I stimulated	--
11	chr1:223979200-224002200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
12	chr1:223979400-224002600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr1:223979600-224002400	Strong transcription	Dnd41	blood
14	chr1:223979800-223997000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr1:223981800-224002600	Weak transcription	Stomach Mucosa	stomach
16	chr1:223982400-223997800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr1:223982600-223997600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr1:223982800-224002200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr1:223983000-223997800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr1:223983400-223998000	Strong transcription	H1 Cell Line	embryonic stem cell
21	chr1:223984200-223999400	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr1:223984200-224003000	Strong transcription	K562	blood
23	chr1:223985400-223998000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr1:223985400-224004000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
25	chr1:223988200-224000800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr1:223988200-224012000	Weak transcription	Colon Smooth Muscle	Colon
27	chr1:223988600-224000600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr1:223990600-224007000	Weak transcription	Fetal Brain Male	brain
29	chr1:223991000-224004400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr1:223991200-223997000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr1:223991200-223999800	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr1:223991200-223999800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr1:223991200-223999800	Weak transcription	Brain Germinal Matrix	brain
34	chr1:223991200-223999800	Weak transcription	Brain Hippocampus Middle	brain
35	chr1:223991200-223999800	Weak transcription	Esophagus	oesophagus
36	chr1:223991200-223999800	Weak transcription	NHEK	skin
37	chr1:223991200-224000000	Weak transcription	Gastric	stomach
38	chr1:223991200-224000600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
39	chr1:223991200-224000600	Weak transcription	Skeletal Muscle Male	skeletal muscle
40	chr1:223991200-224000800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
41	chr1:223991200-224000800	Weak transcription	Fetal Kidney	kidney
42	chr1:223991200-224000800	Weak transcription	Pancreas	Pancrea
43	chr1:223991200-224007400	Weak transcription	Brain Inferior Temporal Lobe	brain
44	chr1:223991200-224007400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
45	chr1:223991200-224010800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
46	chr1:223991400-223999200	Weak transcription	Brain Substantia Nigra	brain
47	chr1:223991400-223999800	Weak transcription	Right Ventricle	heart
48	chr1:223991400-224007600	Weak transcription	Brain Cingulate Gyrus	brain
49	chr1:223991800-224001200	Weak transcription	Small Intestine	intestine
50	chr1:223992000-223999800	Weak transcription	Thymus	Thymus

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