Variant report

Variant	rs995089
Chromosome Location	chr1:45098461-45098462
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:17)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:44818922..44822604-chr1:45096121..45099112,6	K562	blood:
2	chr1:45089432..45094163-chr1:45095736..45099125,6	MCF-7	breast:
3	chr1:44677773..44680547-chr1:45095385..45099072,4	K562	blood:
4	chr1:45077147..45081258-chr1:45096476..45100107,4	MCF-7	breast:
5	chr1:44676967..44680043-chr1:45097059..45099100,3	K562	blood:
6	chr1:45096334..45100885-chr1:45195106..45197628,6	K562	blood:
7	chr1:45097570..45100220-chr1:45105727..45109004,3	MCF-7	breast:
8	chr1:45095169..45100377-chr1:45133934..45142864,15	K562	blood:
9	chr1:45095364..45099259-chr1:45185766..45189852,13	K562	blood:
10	chr1:45096334..45099417-chr1:45195073..45197438,5	K562	blood:
11	chr1:45096184..45099066-chr1:45264568..45266380,3	K562	blood:
12	chr1:44482218..44484038-chr1:45097268..45099139,2	K562	blood:
13	chr1:45086647..45106769-chr1:45179099..45192041,56	K562	blood:
14	chr1:44459804..44461997-chr1:45097523..45099408,2	MCF-7	breast:
15	chr1:45096002..45100159-chr1:45110119..45116077,6	MCF-7	breast:
16	chr1:44444668..44446709-chr1:45098219..45100033,2	K562	blood:
17	chr1:45096122..45099489-chr1:45284877..45287072,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000126106	Chromatin interaction
ENSG00000117419	Chromatin interaction
ENSG00000159214	Chromatin interaction
ENSG00000198520	Chromatin interaction
ENSG00000196517	Chromatin interaction
ENSG00000178028	Chromatin interaction
ENSG00000173846	Chromatin interaction
ENSG00000187147	Chromatin interaction
ENSG00000199377	Chromatin interaction
ENSG00000200169	Chromatin interaction
ENSG00000117411	Chromatin interaction
ENSG00000202444	Chromatin interaction

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs1051648	0.90[CEU][hapmap];0.85[GIH][hapmap];0.88[TSI][hapmap];0.93[EUR][1000 genomes]
rs11581172	0.90[CEU][hapmap];0.85[GIH][hapmap];0.87[TSI][hapmap];0.93[EUR][1000 genomes]
rs11582970	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11588956	0.82[GIH][hapmap];0.84[TSI][hapmap];0.81[EUR][1000 genomes]
rs12728857	0.85[JPT][hapmap]
rs12731688	0.93[EUR][1000 genomes]
rs1407144	0.90[CEU][hapmap];0.93[EUR][1000 genomes]
rs17387413	0.90[CEU][hapmap];0.85[GIH][hapmap];0.90[TSI][hapmap];0.94[EUR][1000 genomes]
rs2018706	0.95[CEU][hapmap];0.95[EUR][1000 genomes]
rs2236219	0.84[TSI][hapmap];0.81[EUR][1000 genomes]
rs2281759	0.95[CEU][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2355365	1.00[ASW][hapmap];1.00[CEU][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2822	0.90[CEU][hapmap];0.85[TSI][hapmap];0.90[EUR][1000 genomes]
rs34296911	0.95[EUR][1000 genomes]
rs3444	0.95[CEU][hapmap];0.95[GIH][hapmap];0.84[MEX][hapmap];0.97[TSI][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs35791258	0.92[EUR][1000 genomes]
rs3754421	0.85[ASN][1000 genomes]
rs3768439	0.95[CEU][hapmap];0.97[GIH][hapmap];0.84[MEX][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs3768441	0.85[ASN][1000 genomes]
rs3850852	0.95[CEU][hapmap];0.93[EUR][1000 genomes]
rs41269061	0.94[EUR][1000 genomes]
rs4660283	0.95[CEU][hapmap];0.95[EUR][1000 genomes]
rs4660284	0.95[CEU][hapmap];0.97[GIH][hapmap];0.84[MEX][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4660285	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4660814	0.85[ASN][1000 genomes]
rs4660815	0.95[CEU][hapmap];0.87[GIH][hapmap];0.90[TSI][hapmap];0.95[EUR][1000 genomes]
rs4660816	0.95[CEU][hapmap];0.95[EUR][1000 genomes]
rs4660817	0.94[EUR][1000 genomes]
rs56756630	0.85[ASN][1000 genomes]
rs57291201	0.93[EUR][1000 genomes]
rs59834392	0.85[ASN][1000 genomes]
rs72671943	0.85[ASN][1000 genomes]
rs72671948	0.85[ASN][1000 genomes]
rs72671949	0.85[ASN][1000 genomes]
rs72671954	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74070566	0.86[EUR][1000 genomes]
rs876511	0.95[EUR][1000 genomes]
rs876512	0.95[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	nsv533037	chr1:44361728-45333408	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	469 gene(s)	inside rSNPs	diseases
2	nsv1004861	chr1:44843654-45210176	Flanking Active TSS Genic enhancers Enhancers Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	346 gene(s)	inside rSNPs	diseases
3	nsv534940	chr1:44843654-45210176	Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	346 gene(s)	inside rSNPs	diseases
4	nsv461395	chr1:44898998-45119965	Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	27 gene(s)	inside rSNPs	diseases
5	nsv546144	chr1:44898998-45119965	Genic enhancers Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	27 gene(s)	inside rSNPs	diseases
6	nsv998476	chr1:45001278-45311757	Flanking Active TSS Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	426 gene(s)	inside rSNPs	diseases
7	nsv534941	chr1:45001278-45311757	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer 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	426 gene(s)	inside rSNPs	diseases
8	esv3341980	chr1:45097165-45099063	Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Strong transcription	TF binding region CpG island Chromatin interactive region	23 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	chr1:45096800-45099000	Active TSS	A549	lung
2	chr1:45097000-45098600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr1:45097000-45098600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr1:45097000-45098600	Active TSS	Pancreatic Islets	Pancreatic Islet
5	chr1:45097200-45098600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr1:45097200-45098600	Active TSS	H9 Cell Line	embryonic stem cell
7	chr1:45097200-45098600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr1:45097200-45098600	Active TSS	Aorta	Aorta
9	chr1:45097200-45098600	Active TSS	Brain Substantia Nigra	brain
10	chr1:45097200-45098600	Active TSS	Pancreas	Pancrea
11	chr1:45097200-45098600	Active TSS	Psoas Muscle	Psoas
12	chr1:45097200-45098800	Active TSS	ES-I3 Cell Line	embryonic stem cell
13	chr1:45097200-45098800	Active TSS	iPS-15b Cell Line	embryonic stem cell
14	chr1:45097200-45099000	Active TSS	HUES64 Cell Line	embryonic stem cell
15	chr1:45097400-45098600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr1:45097400-45098600	Active TSS	HUES48 Cell Line	embryonic stem cell
17	chr1:45097400-45098600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr1:45097400-45098600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
19	chr1:45097400-45098600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr1:45097400-45098600	Active TSS	Brain Angular Gyrus	brain
21	chr1:45097400-45098600	Active TSS	Brain Anterior Caudate	brain
22	chr1:45097400-45098600	Active TSS	GM12878-XiMat	blood
23	chr1:45097400-45098600	Active TSS	HSMM	muscle
24	chr1:45097400-45098800	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr1:45097400-45098800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr1:45097400-45099000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr1:45097600-45098600	Active TSS	HMEC	breast
28	chr1:45097800-45098800	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
29	chr1:45098200-45098600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr1:45098200-45098600	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
31	chr1:45098200-45098600	Transcr. at gene 5' and 3'	Primary B cells from peripheral blood	blood
32	chr1:45098200-45098600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
33	chr1:45098200-45098600	Flanking Active TSS	Primary hematopoietic stem cells	blood
34	chr1:45098200-45098600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
35	chr1:45098200-45098600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
36	chr1:45098200-45098600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
37	chr1:45098200-45098600	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
38	chr1:45098200-45098600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
39	chr1:45098200-45098600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr1:45098200-45098600	Flanking Active TSS	Liver	Liver
41	chr1:45098200-45098600	Flanking Active TSS	Colonic Mucosa	Colon
42	chr1:45098200-45098600	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
43	chr1:45098200-45098600	Flanking Active TSS	Fetal Brain Male	brain
44	chr1:45098200-45098600	Flanking Active TSS	Fetal Intestine Large	intestine
45	chr1:45098200-45098600	Flanking Active TSS	Fetal Muscle Trunk	muscle
46	chr1:45098200-45098600	Flanking Active TSS	Fetal Stomach	stomach
47	chr1:45098200-45098600	Flanking Active TSS	Hela-S3	cervix
48	chr1:45098200-45098600	Flanking Active TSS	HepG2	liver
49	chr1:45098200-45098800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
50	chr1:45098200-45098800	Flanking Active TSS	Primary B cells from cord blood	blood

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