Variant report

Variant	rs1222127
Chromosome Location	chr1:224002338-224002339
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:224000840..224004910-chr1:224006824..224010402,6	K562	blood:
2	chr1:224001116..224004491-chr1:224031166..224035522,4	K562	blood:

Variant related genes	Relation type
ENSG00000143514	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs1003061	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1153928	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1153937	0.88[ASN][1000 genomes]
rs1153938	0.87[ASN][1000 genomes]
rs1153943	0.86[ASN][1000 genomes]
rs1153944	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1153946	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1153950	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1153952	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1153954	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1153956	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1222081	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1222123	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1222126	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1222147	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1222148	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1222153	0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs1222158	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1228475	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1538140	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17739	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1982611	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs60739082	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6604726	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6658724	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6661816	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6667215	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6694471	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6698919	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs898878	0.90[AMR][1000 genomes];0.96[EUR][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:126 , 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	chr1:223960200-224025400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr1:223961800-224004400	Strong transcription	HUES48 Cell Line	embryonic stem cell
5	chr1:223964400-224008000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr1:223976800-224003000	Weak transcription	Fetal Heart	heart
7	chr1:223979400-224002600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr1:223979600-224002400	Strong transcription	Dnd41	blood
9	chr1:223981800-224002600	Weak transcription	Stomach Mucosa	stomach
10	chr1:223984200-224003000	Strong transcription	K562	blood
11	chr1:223985400-224004000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
12	chr1:223988200-224012000	Weak transcription	Colon Smooth Muscle	Colon
13	chr1:223990600-224007000	Weak transcription	Fetal Brain Male	brain
14	chr1:223991000-224004400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr1:223991200-224007400	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr1:223991200-224007400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr1:223991200-224010800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr1:223991400-224007600	Weak transcription	Brain Cingulate Gyrus	brain
19	chr1:223993400-224008400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr1:223994600-224007000	Weak transcription	Colonic Mucosa	Colon
21	chr1:223994600-224008200	Weak transcription	Psoas Muscle	Psoas
22	chr1:223995600-224002600	Strong transcription	HUES64 Cell Line	embryonic stem cell
23	chr1:223995800-224009400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr1:223996000-224007600	Weak transcription	Hela-S3	cervix
25	chr1:223996200-224002600	Weak transcription	A549	lung
26	chr1:223997200-224004600	Strong transcription	Primary neutrophils fromperipheralblood	blood
27	chr1:223997800-224002800	Strong transcription	Primary B cells from peripheral blood	blood
28	chr1:223998600-224003200	Weak transcription	HMEC	breast
29	chr1:223999000-224003200	Weak transcription	NHDF-Ad	bronchial
30	chr1:223999200-224004000	Strong transcription	Fetal Lung	lung
31	chr1:223999400-224004000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
32	chr1:223999600-224002400	Strong transcription	Osteobl	bone
33	chr1:223999600-224007800	Weak transcription	Brain Angular Gyrus	brain
34	chr1:223999800-224002400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr1:223999800-224002400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr1:223999800-224002400	Strong transcription	Esophagus	oesophagus
37	chr1:223999800-224002400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr1:223999800-224002400	Strong transcription	Fetal Intestine Small	intestine
39	chr1:223999800-224002400	Strong transcription	Fetal Muscle Leg	muscle
40	chr1:223999800-224002400	Strong transcription	Sigmoid Colon	Sigmoid Colon
41	chr1:223999800-224003200	Weak transcription	Right Atrium	heart
42	chr1:223999800-224003400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr1:223999800-224004800	Strong transcription	Fetal Intestine Large	intestine
44	chr1:223999800-224010800	Weak transcription	Pancreatic Islets	Pancreatic Islet
45	chr1:224000000-224002400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr1:224000000-224002400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr1:224000000-224002600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr1:224000200-224003200	Weak transcription	NH-A	brain
49	chr1:224000200-224003200	Weak transcription	NHEK	skin
50	chr1:224000200-224007400	Weak transcription	Brain Hippocampus Middle	brain

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