Variant report

Variant	rs3014872
Chromosome Location	chr1:153336404-153336405
allele	C/T
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	chr1:153334660..153336550-chr1:153420247..153422420,2	MCF-7	breast:
3	chr1:153336266..153339215-chr1:153393724..153396569,2	MCF-7	breast:
4	chr1:153336027..153338853-chr1:153581594..153583684,4	MCF-7	breast:
5	chr1:153264686..153267365-chr1:153334525..153337537,3	MCF-7	breast:
6	chr1:153334753..153336863-chr1:153445045..153447024,2	MCF-7	breast:
7	chr1:153320974..153341807-chr1:153456098..153486349,81	MCF-7	breast:
8	chr1:153334049..153336628-chr1:153397287..153398980,2	MCF-7	breast:
9	chr1:153334839..153336522-chr1:153445191..153447755,2	MCF-7	breast:
10	chr1:153326747..153345757-chr1:153352900..153372983,150	MCF-7	breast:
11	chr1:153334961..153337915-chr1:153541192..153545009,3	MCF-7	breast:
12	chr1:153336060..153338160-chr1:153584446..153587078,2	MCF-7	breast:
13	chr1:153332048..153333620-chr1:153336040..153338683,2	K562	blood:
14	chr1:153334700..153336938-chr1:153538000..153541137,5	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000143546	Chromatin interaction
ENSG00000237008	Chromatin interaction
ENSG00000188643	Chromatin interaction
ENSG00000263841	Chromatin interaction
ENSG00000224784	Chromatin interaction
ENSG00000196754	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs2916195	1.00[YRI][hapmap];0.89[AFR][1000 genomes]
rs3006478	1.00[AMR][1000 genomes]
rs3006486	1.00[AMR][1000 genomes]
rs3014809	1.00[AMR][1000 genomes]
rs3014867	1.00[AMR][1000 genomes]
rs3014868	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3014871	1.00[AFR][1000 genomes]
rs3124217	1.00[ASW][hapmap];1.00[YRI][hapmap];1.00[AFR][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	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:23 , 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	chr1:153330800-153336600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr1:153330800-153336600	Weak transcription	NHEK	skin
4	chr1:153330800-153338200	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr1:153331200-153336600	Weak transcription	HMEC	breast
6	chr1:153331800-153336600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr1:153332400-153338600	Enhancers	Fetal Intestine Large	intestine
8	chr1:153332600-153338000	Weak transcription	Pancreas	Pancrea
9	chr1:153332600-153340000	Weak transcription	Spleen	Spleen
10	chr1:153333200-153337400	Weak transcription	Primary hematopoietic stem cells	blood
11	chr1:153333200-153339200	Enhancers	Placenta Amnion	Placenta Amnion
12	chr1:153333600-153346200	Enhancers	Primary monocytes fromperipheralblood	blood
13	chr1:153333800-153338000	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr1:153333800-153341400	Enhancers	Placenta	Placenta
15	chr1:153334000-153339600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
16	chr1:153334400-153338400	Enhancers	Fetal Intestine Small	intestine
17	chr1:153334800-153339400	Enhancers	Esophagus	oesophagus
18	chr1:153335600-153337600	Enhancers	Hela-S3	cervix
19	chr1:153335600-153339000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr1:153335600-153341400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
21	chr1:153335800-153337400	Enhancers	Primary B cells from cord blood	blood
22	chr1:153336000-153339400	Enhancers	Fetal Thymus	thymus
23	chr1:153336400-153338400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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