Variant report

Variant	rs3014873
Chromosome Location	chr1:153337148-153337149
allele	A/C
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:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:153335876..153338098-chr1:153401901..153404705,2	MCF-7	breast:
2	chr1:153336539..153339701-chr1:153443875..153445928,3	MCF-7	breast:
3	chr1:153336585..153339235-chr1:153606399..153609128,2	MCF-7	breast:
4	chr1:153336480..153339462-chr1:153539125..153540709,2	MCF-7	breast:
5	chr1:153336266..153339215-chr1:153393724..153396569,2	MCF-7	breast:
6	chr1:153336912..153340188-chr1:153342336..153344449,3	K562	blood:
7	chr1:153321316..153323236-chr1:153336721..153338845,2	MCF-7	breast:
8	chr1:153336027..153338853-chr1:153581594..153583684,4	MCF-7	breast:
9	chr1:153264686..153267365-chr1:153334525..153337537,3	MCF-7	breast:
10	chr1:153320974..153341807-chr1:153456098..153486349,81	MCF-7	breast:
11	chr1:153326747..153345757-chr1:153352900..153372983,150	MCF-7	breast:
12	chr1:153334961..153337915-chr1:153541192..153545009,3	MCF-7	breast:
13	chr1:153336060..153338160-chr1:153584446..153587078,2	MCF-7	breast:
14	chr1:153332048..153333620-chr1:153336040..153338683,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000163218	Chromatin interaction
ENSG00000196754	Chromatin interaction
ENSG00000237008	Chromatin interaction
ENSG00000272030	Chromatin interaction
ENSG00000188643	Chromatin interaction
ENSG00000263841	Chromatin interaction
ENSG00000189171	Chromatin interaction
ENSG00000224784	Chromatin interaction
ENSG00000271853	Chromatin interaction
ENSG00000143546	Chromatin interaction
ENSG00000160679	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs16835357	1.00[MEX][hapmap]
rs16835362	1.00[MEX][hapmap]
rs2916195	1.00[AMR][1000 genomes]
rs3006417	1.00[MEX][hapmap]
rs3006419	1.00[MEX][hapmap]
rs3014871	1.00[AMR][1000 genomes]
rs3014883	1.00[MEX][hapmap]

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	nsv1010488	chr1:152901263-153670972	Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	236 gene(s)	inside rSNPs	diseases
2	nsv535171	chr1:152901263-153670972	Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	236 gene(s)	inside rSNPs	diseases
3	nsv533877	chr1:152923645-153468131	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
4	nsv1002705	chr1:153307852-153525589	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	152 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:153330400-153339000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr1:153330800-153338200	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr1:153332400-153338600	Enhancers	Fetal Intestine Large	intestine
4	chr1:153332600-153338000	Weak transcription	Pancreas	Pancrea
5	chr1:153332600-153340000	Weak transcription	Spleen	Spleen
6	chr1:153333200-153337400	Weak transcription	Primary hematopoietic stem cells	blood
7	chr1:153333200-153339200	Enhancers	Placenta Amnion	Placenta Amnion
8	chr1:153333600-153346200	Enhancers	Primary monocytes fromperipheralblood	blood
9	chr1:153333800-153338000	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr1:153333800-153341400	Enhancers	Placenta	Placenta
11	chr1:153334000-153339600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
12	chr1:153334400-153338400	Enhancers	Fetal Intestine Small	intestine
13	chr1:153334800-153339400	Enhancers	Esophagus	oesophagus
14	chr1:153335600-153337600	Enhancers	Hela-S3	cervix
15	chr1:153335600-153339000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr1:153335600-153341400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
17	chr1:153335800-153337400	Enhancers	Primary B cells from cord blood	blood
18	chr1:153336000-153339400	Enhancers	Fetal Thymus	thymus
19	chr1:153336400-153338400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr1:153336600-153338200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr1:153336600-153338200	Enhancers	HMEC	breast
22	chr1:153336600-153338400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr1:153336600-153338400	Enhancers	NHEK	skin
24	chr1:153337000-153337800	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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