Variant report

Variant	rs3124217
Chromosome Location	chr1:153332088-153332089
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:153331714..153334203-chr17:57921044..57923307,2	MCF-7	breast:
2	chr1:153331002..153335695-chr1:153581100..153585602,5	MCF-7	breast:
3	chr1:153329431..153332677-chr1:153411266..153413745,3	MCF-7	breast:
4	chr1:153331254..153333129-chr1:153443301..153445517,2	MCF-7	breast:
5	chr1:153332048..153333620-chr1:153336040..153338683,2	K562	blood:
6	chr1:153331896..153334642-chr1:153432654..153434771,2	MCF-7	breast:
7	chr1:153320974..153341807-chr1:153456098..153486349,81	MCF-7	breast:
8	chr1:153326747..153345757-chr1:153352900..153372983,150	MCF-7	breast:
9	chr1:153329373..153332340-chr1:153432969..153437036,4	MCF-7	breast:
10	chr1:153330243..153332456-chr1:153649473..153651392,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000143556	Chromatin interaction
ENSG00000237008	Chromatin interaction
ENSG00000169418	Chromatin interaction
ENSG00000224784	Chromatin interaction
ENSG00000197364	Chromatin interaction
ENSG00000263841	Chromatin interaction
ENSG00000188643	Chromatin interaction
ENSG00000143546	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs2916195	1.00[YRI][hapmap];0.89[AFR][1000 genomes]
rs3014868	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs3014871	1.00[AFR][1000 genomes]
rs3014872	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:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:153330000-153332600	Active TSS	Esophagus	oesophagus
2	chr1:153330200-153332200	Flanking Active TSS	Placenta	Placenta
3	chr1:153330200-153334800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr1:153330400-153332600	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr1:153330400-153333200	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr1:153330400-153339000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr1:153330600-153332600	Enhancers	Adipose Nuclei	Adipose
8	chr1:153330800-153332200	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
9	chr1:153330800-153332600	Active TSS	Spleen	Spleen
10	chr1:153330800-153333800	Transcr. at gene 5' and 3'	Monocytes-CD14+_RO01746	blood
11	chr1:153330800-153334000	Transcr. at gene 5' and 3'	Primary neutrophils fromperipheralblood	blood
12	chr1:153330800-153336600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr1:153330800-153336600	Weak transcription	NHEK	skin
14	chr1:153330800-153338200	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr1:153331000-153332200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr1:153331000-153332400	Weak transcription	Fetal Intestine Large	intestine
17	chr1:153331000-153333200	Active TSS	Primary B cells from cord blood	blood
18	chr1:153331000-153333400	Transcr. at gene 5' and 3'	Primary monocytes fromperipheralblood	blood
19	chr1:153331200-153332400	Weak transcription	Hela-S3	cervix
20	chr1:153331200-153332600	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr1:153331200-153335400	Weak transcription	Fetal Thymus	thymus
22	chr1:153331200-153336600	Weak transcription	HMEC	breast
23	chr1:153331400-153332600	Weak transcription	Left Ventricle	heart
24	chr1:153331400-153333600	Enhancers	Primary hematopoietic stem cells short term culture	blood
25	chr1:153331400-153335000	Weak transcription	Lung	lung
26	chr1:153331800-153332800	Weak transcription	Primary hematopoietic stem cells	blood
27	chr1:153331800-153336600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr1:153332000-153332400	Weak transcription	Fetal Intestine Small	intestine

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