Variant report

Variant	rs12118128
Chromosome Location	chr1:223838253-223838254
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:223834427..223836360-chr1:223837595..223841642,3	MCF-7	breast:
2	chr1:223827325..223830055-chr1:223836590..223838294,2	MCF-7	breast:
3	chr1:223829687..223833751-chr1:223837016..223839699,4	MCF-7	breast:
4	chr1:223837812..223840547-chr1:223845364..223849589,4	K562	blood:
5	chr1:223836208..223847031-chr1:223849408..223858826,22	MCF-7	breast:

Variant related genes	Relation type
ENSG00000227002	Chromatin interaction
ENSG00000203697	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10799298	0.82[EUR][1000 genomes]
rs1108087	0.90[CEU][hapmap];0.88[TSI][hapmap];0.83[EUR][1000 genomes]
rs1108089	0.90[CEU][hapmap];0.88[TSI][hapmap];0.83[EUR][1000 genomes]
rs12130866	0.89[CEU][hapmap];1.00[MEX][hapmap];0.91[TSI][hapmap];0.93[EUR][1000 genomes]
rs12132899	0.89[CEU][hapmap];1.00[MEX][hapmap];0.87[TSI][hapmap];0.93[EUR][1000 genomes]
rs12137025	0.89[CEU][hapmap];0.85[MEX][hapmap];0.83[TSI][hapmap];0.85[EUR][1000 genomes]
rs12137149	0.89[EUR][1000 genomes]
rs12141998	0.90[EUR][1000 genomes]
rs1419310	0.89[EUR][1000 genomes]
rs1573980	0.90[CEU][hapmap];0.85[TSI][hapmap];0.82[EUR][1000 genomes]
rs17483760	0.89[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];0.81[GIH][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2404354	0.90[CEU][hapmap];0.88[TSI][hapmap];0.83[EUR][1000 genomes]
rs55854109	0.85[EUR][1000 genomes]
rs56017959	0.90[EUR][1000 genomes]
rs56023421	0.90[EUR][1000 genomes]
rs72747938	0.81[EUR][1000 genomes]
rs72747945	0.90[EUR][1000 genomes]
rs72747950	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72747968	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72747974	0.89[EUR][1000 genomes]
rs72747975	0.89[EUR][1000 genomes]
rs7522432	0.87[EUR][1000 genomes]
rs7552613	0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832681	chr1:223698048-224002691	Strong transcription Active TSS Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv873209	chr1:223707647-223846564	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv873210	chr1:223707647-223856414	Weak transcription Enhancers Bivalent Enhancer Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv873211	chr1:223707647-223867631	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	esv3361888	chr1:223725597-224114846	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
6	nsv1000199	chr1:223803545-223854859	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv873212	chr1:223807262-223853792	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv1012050	chr1:223824652-223843610	Weak transcription Bivalent Enhancer Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	nsv535309	chr1:223824652-223843610	Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
10	nsv1007380	chr1:223834380-224042190	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
11	nsv535310	chr1:223834380-224042190	ZNF genes & repeats Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:223830400-223841800	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr1:223833600-223850800	Weak transcription	Colonic Mucosa	Colon
3	chr1:223834200-223840200	Weak transcription	Gastric	stomach
4	chr1:223834200-223841800	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr1:223834400-223841600	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr1:223835400-223838400	Weak transcription	Stomach Mucosa	stomach
7	chr1:223835400-223840200	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr1:223835800-223840200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr1:223836000-223840200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr1:223836400-223840200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr1:223836400-223840200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr1:223836600-223840200	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr1:223836600-223840800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr1:223837000-223839200	Weak transcription	Fetal Brain Male	brain
15	chr1:223837000-223840200	Weak transcription	Esophagus	oesophagus
16	chr1:223837200-223838400	Enhancers	Skeletal Muscle Female	skeletal muscle
17	chr1:223837200-223840200	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr1:223837400-223839600	Enhancers	Skeletal Muscle Male	skeletal muscle
19	chr1:223837800-223838800	Enhancers	Left Ventricle	heart
20	chr1:223837800-223839000	Enhancers	Right Atrium	heart
21	chr1:223837800-223840800	Enhancers	Fetal Lung	lung
22	chr1:223838000-223840800	Enhancers	Psoas Muscle	Psoas
23	chr1:223838200-223838400	Bivalent Enhancer	Brain Cingulate Gyrus	brain
24	chr1:223838200-223841400	Enhancers	Fetal Muscle Leg	muscle
25	chr1:223838200-223842600	Weak transcription	Lung	lung
26	chr1:223838200-223850800	Weak transcription	Fetal Stomach	stomach

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