Variant report

Variant	rs493446
Chromosome Location	chr1:155880573-155880574
allele	C/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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:155825653..155829252-chr1:155877943..155882760,5	MCF-7	breast:
2	chr1:155879962..155882698-chr1:155885713..155888748,6	MCF-7	breast:
3	chr1:155879661..155882760-chr1:155946571..155949454,3	K562	blood:
4	chr1:155879409..155881796-chr1:155901375..155905401,4	MCF-7	breast:
5	chr1:155878384..155883302-chr1:155900472..155905868,7	K562	blood:
6	chr1:155825368..155829605-chr1:155879516..155883021,7	K562	blood:
7	chr1:155823442..155829143-chr1:155879989..155882670,6	MCF-7	breast:
8	chr1:155825171..155830547-chr1:155878470..155884979,12	K562	blood:
9	chr1:155879114..155881367-chr1:155902425..155905245,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000273002	Chromatin interaction
ENSG00000116584	Chromatin interaction
ENSG00000132718	Chromatin interaction
ENSG00000132680	Chromatin interaction
ENSG00000116580	Chromatin interaction

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs1010033	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.80[AFR][1000 genomes];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1018730	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1055184	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10908485	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1094558	0.85[ASN][1000 genomes]
rs11264421	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12039053	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12129384	0.84[AFR][1000 genomes]
rs12138833	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12747344	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs1544119	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap]
rs1749407	0.91[EUR][1000 genomes]
rs1749408	0.85[EUR][1000 genomes]
rs1749409	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1765275	0.85[CEU][hapmap];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1964951	0.94[EUR][1000 genomes]
rs2275071	0.90[ASN][1000 genomes]
rs2275079	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2275081	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2364402	0.80[AFR][1000 genomes];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2364404	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.80[AFR][1000 genomes];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28379575	0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2886069	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34802187	0.97[EUR][1000 genomes]
rs35138477	0.84[EUR][1000 genomes]
rs35374730	0.97[EUR][1000 genomes]
rs35588936	0.89[CEU][hapmap];0.84[EUR][1000 genomes]
rs35730001	0.94[EUR][1000 genomes]
rs3738587	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs3768280	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4412586	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4661160	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4661162	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.80[AFR][1000 genomes];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4661170	0.97[EUR][1000 genomes]
rs4661172	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs506688	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs527113	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs536870	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs572609	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs605025	1.00[CEU][hapmap];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6660802	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6667096	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs708614	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71628697	0.99[EUR][1000 genomes]
rs71628699	0.85[EUR][1000 genomes]
rs822502	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs822503	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs822519	1.00[CEU][hapmap]
rs822653	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv33869	chr1:155223283-155917961	Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	187 gene(s)	inside rSNPs	diseases
2	esv3423892	chr1:155664084-155901487	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
3	nsv916198	chr1:155804210-156403997	Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	428 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	chr1:155879400-155880800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
2	chr1:155879400-155880800	Transcr. at gene 5' and 3'	Dnd41	blood
3	chr1:155879400-155880800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
4	chr1:155879400-155881600	Active TSS	Rectal Smooth Muscle	rectum
5	chr1:155879600-155880800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr1:155879600-155880800	Flanking Active TSS	NHEK	skin
7	chr1:155879600-155881400	Active TSS	Esophagus	oesophagus
8	chr1:155879800-155880600	Transcr. at gene 5' and 3'	Breast Myoepithelial Primary Cells	Breast
9	chr1:155879800-155880600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
10	chr1:155879800-155880600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
11	chr1:155879800-155880600	Transcr. at gene 5' and 3'	Fetal Intestine Small	intestine
12	chr1:155879800-155880800	Flanking Active TSS	Primary hematopoietic stem cells	blood
13	chr1:155879800-155880800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
14	chr1:155879800-155880800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
15	chr1:155879800-155880800	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
16	chr1:155879800-155880800	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr1:155879800-155881400	Active TSS	Fetal Brain Male	brain
18	chr1:155879800-155881600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr1:155880000-155880600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
20	chr1:155880000-155880600	Flanking Active TSS	Fetal Lung	lung
21	chr1:155880000-155880600	Flanking Active TSS	Stomach Smooth Muscle	stomach
22	chr1:155880000-155880600	Flanking Active TSS	HUVEC	blood vessel
23	chr1:155880000-155880600	Flanking Active TSS	NH-A	brain
24	chr1:155880000-155880600	Flanking Active TSS	Osteobl	bone
25	chr1:155880000-155880800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr1:155880000-155880800	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
27	chr1:155880000-155880800	Flanking Active TSS	Primary B cells from cord blood	blood
28	chr1:155880000-155880800	Flanking Active TSS	Primary T cells from cord blood	blood
29	chr1:155880000-155880800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
30	chr1:155880000-155880800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
31	chr1:155880000-155880800	Flanking Active TSS	Adipose Nuclei	Adipose
32	chr1:155880000-155880800	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
33	chr1:155880000-155880800	Flanking Active TSS	Duodenum Mucosa	Duodenum
34	chr1:155880000-155881200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr1:155880000-155881200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr1:155880000-155881400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr1:155880000-155881400	Active TSS	Brain Germinal Matrix	brain
38	chr1:155880000-155881400	Active TSS	Fetal Intestine Large	intestine
39	chr1:155880000-155881400	Active TSS	HSMMtube	muscle
40	chr1:155880000-155881600	Active TSS	ES-I3 Cell Line	embryonic stem cell
41	chr1:155880000-155881600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr1:155880000-155881600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
43	chr1:155880000-155881600	Active TSS	Aorta	Aorta
44	chr1:155880000-155881600	Active TSS	Right Atrium	heart
45	chr1:155880200-155880600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr1:155880200-155880600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
47	chr1:155880200-155880600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
48	chr1:155880200-155880600	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
49	chr1:155880200-155880600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr1:155880200-155880600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin

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