Variant report

Variant	rs1498382
Chromosome Location	chr1:222814837-222814838
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:222814736-222815128	HepG2	liver:	n/a	n/a
2	MYC	chr1:222814828-222815189	K562	blood:	n/a	chr1:222814960-222814970
3	MAX	chr1:222814832-222815126	NB4	blood:	n/a	chr1:222814960-222814970

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:222814795..222819438-chr1:222884035..222887873,13	K562	blood:
2	chr1:222789107..222793717-chr1:222814287..222819011,10	K562	blood:

Variant related genes	Relation type
MIA3	TF binding region
ENSG00000186063	Chromatin interaction
ENSG00000154305	Chromatin interaction
ENSG00000162819	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs11485123	0.86[EUR][1000 genomes]
rs12063226	0.82[EUR][1000 genomes]
rs1391557	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1391558	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17011666	0.83[AMR][1000 genomes]
rs17011686	0.84[ASN][1000 genomes]
rs1909195	0.83[AMR][1000 genomes]
rs1909197	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2030076	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2088514	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2133188	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2270707	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2378604	0.87[EUR][1000 genomes]
rs2936020	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2936023	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2936049	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2936051	0.98[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2936052	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2936054	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3002129	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3002146	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3002148	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3008614	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs3008615	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs3008616	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3008618	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3008622	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3008625	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3008629	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3008637	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs34433664	0.88[EUR][1000 genomes]
rs35507977	0.81[EUR][1000 genomes]
rs3811465	0.88[EUR][1000 genomes]
rs61827168	0.99[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9441835	0.82[AMR][1000 genomes]
rs9441926	0.81[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999185	chr1:222500725-223278032	Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	nsv535304	chr1:222500725-223278032	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv873205	chr1:222718718-222923351	Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
4	nsv1012537	chr1:222755091-223512243	Weak transcription Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 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	chr1:222792400-222816600	Weak transcription	Small Intestine	intestine
2	chr1:222792600-222816600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr1:222792600-222817000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr1:222793200-222816600	Weak transcription	Primary neutrophils fromperipheralblood	blood
5	chr1:222793200-222816600	Weak transcription	Hela-S3	cervix
6	chr1:222793600-222816600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr1:222794600-222815000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr1:222799600-222815000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr1:222801000-222816600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr1:222801200-222815200	Strong transcription	HSMM	muscle
11	chr1:222801400-222816800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr1:222801600-222816600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr1:222801800-222815000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr1:222802200-222816800	Weak transcription	Stomach Mucosa	stomach
15	chr1:222802400-222816600	Weak transcription	HMEC	breast
16	chr1:222802600-222816600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr1:222802800-222816600	Weak transcription	GM12878-XiMat	blood
18	chr1:222803000-222816800	Weak transcription	Colonic Mucosa	Colon
19	chr1:222803200-222816400	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr1:222803200-222816600	Weak transcription	Rectal Smooth Muscle	rectum
21	chr1:222803800-222816600	Weak transcription	NHLF	lung
22	chr1:222804400-222817000	Weak transcription	Fetal Brain Male	brain
23	chr1:222805800-222816600	Weak transcription	Fetal Heart	heart
24	chr1:222805800-222817000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr1:222806400-222816600	Weak transcription	Primary hematopoietic stem cells	blood
26	chr1:222806400-222816600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
27	chr1:222806400-222816600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
28	chr1:222806600-222816600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr1:222806600-222816600	Weak transcription	HUVEC	blood vessel
30	chr1:222806800-222816600	Weak transcription	Stomach Smooth Muscle	stomach
31	chr1:222807000-222816400	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr1:222807000-222816600	Weak transcription	H9 Cell Line	embryonic stem cell
33	chr1:222807000-222816600	Weak transcription	Skeletal Muscle Male	skeletal muscle
34	chr1:222807000-222816800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr1:222807000-222816800	Weak transcription	Right Ventricle	heart
36	chr1:222807200-222816600	Weak transcription	H1 Cell Line	embryonic stem cell
37	chr1:222807200-222816600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr1:222807200-222816600	Weak transcription	Placenta Amnion	Placenta Amnion
39	chr1:222807200-222816800	Weak transcription	Brain Germinal Matrix	brain
40	chr1:222807400-222816600	Weak transcription	Brain Cingulate Gyrus	brain
41	chr1:222807400-222816600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
42	chr1:222807400-222816600	Weak transcription	Brain Substantia Nigra	brain
43	chr1:222807400-222817000	Weak transcription	Aorta	Aorta
44	chr1:222807600-222816600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
45	chr1:222807600-222816600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr1:222807600-222816600	Weak transcription	Colon Smooth Muscle	Colon
47	chr1:222807600-222816600	Weak transcription	Lung	lung
48	chr1:222807600-222816600	Weak transcription	Pancreas	Pancrea
49	chr1:222807600-222816800	Weak transcription	Psoas Muscle	Psoas
50	chr1:222807600-222817000	Weak transcription	Esophagus	oesophagus

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