Variant report

Variant	rs12124148
Chromosome Location	chr1:113753022-113753023
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:113751528..113753690-chr1:113759429..113761422,2	MCF-7	breast:
2	chr1:113740994..113743593-chr1:113752886..113755498,2	K562	blood:

Variant related genes	Relation type
ENSG00000236887	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs12118061	1.00[ASN][1000 genomes]
rs12118642	1.00[ASN][1000 genomes]
rs12119387	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12120401	1.00[ASN][1000 genomes]
rs12120441	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12125675	1.00[ASN][1000 genomes]
rs12125708	1.00[ASN][1000 genomes]
rs12126304	1.00[ASN][1000 genomes]
rs12127415	1.00[ASN][1000 genomes]
rs12129858	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12136395	1.00[ASN][1000 genomes]
rs12139726	1.00[ASN][1000 genomes]
rs12139899	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12140651	1.00[ASN][1000 genomes]
rs12140676	1.00[ASN][1000 genomes]
rs12140810	1.00[ASN][1000 genomes]
rs12141540	1.00[ASN][1000 genomes]
rs12141541	1.00[ASN][1000 genomes]
rs12142449	1.00[ASN][1000 genomes]
rs12142475	1.00[ASN][1000 genomes]
rs12142510	1.00[ASN][1000 genomes]
rs12143430	1.00[ASN][1000 genomes]
rs12145713	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12145738	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs72685641	1.00[ASN][1000 genomes]
rs7518115	1.00[ASN][1000 genomes]
rs7541246	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7541520	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7541703	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1012119	chr1:113214869-113759081	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
2	nsv535060	chr1:113214869-113759081	Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
3	nsv529238	chr1:113229946-113759080	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	100 gene(s)	inside rSNPs	diseases
4	esv18293	chr1:113375437-113852815	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
5	nsv1007045	chr1:113425222-113839910	Genic enhancers Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
6	nsv427719	chr1:113570229-114078388	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
7	nsv2465	chr1:113731589-113776605	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 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	chr1:113745200-113753600	Weak transcription	HUES48 Cell Line	embryonic stem cell
2	chr1:113745400-113754200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr1:113748400-113754800	Enhancers	Fetal Intestine Large	intestine
4	chr1:113750800-113753400	Enhancers	Duodenum Mucosa	Duodenum
5	chr1:113751400-113754200	Enhancers	Fetal Intestine Small	intestine
6	chr1:113751800-113753200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
7	chr1:113752000-113753600	Weak transcription	Gastric	stomach
8	chr1:113752200-113753200	Active TSS	Rectal Smooth Muscle	rectum
9	chr1:113752200-113753400	Enhancers	Primary hematopoietic stem cells	blood
10	chr1:113752400-113753200	Weak transcription	Stomach Mucosa	stomach
11	chr1:113752600-113753200	Flanking Active TSS	GM12878-XiMat	blood
12	chr1:113752600-113753400	Enhancers	Primary hematopoietic stem cells short term culture	blood
13	chr1:113752600-113753400	Flanking Active TSS	K562	blood
14	chr1:113752600-113757600	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr1:113752800-113753200	Enhancers	Lung	lung
16	chr1:113752800-113753400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr1:113752800-113754400	Enhancers	Rectal Mucosa Donor 31	rectum
18	chr1:113752800-113754800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr1:113752800-113755200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr1:113753000-113753200	Enhancers	Primary neutrophils fromperipheralblood	blood
21	chr1:113753000-113753200	Enhancers	Primary B cells from peripheral blood	blood
22	chr1:113753000-113753200	Enhancers	Pancreas	Pancrea
23	chr1:113753000-113753400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr1:113753000-113754800	Enhancers	Colonic Mucosa	Colon

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