Variant report

Variant	rs12420504
Chromosome Location	chr11:34244501-34244502
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:34242165..34244908-chr11:34379144..34380922,2	MCF-7	breast:
2	chr11:34243758..34246398-chr11:34366962..34369270,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000166016	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs1022722	0.92[ASN][1000 genomes]
rs11032552	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11032554	0.98[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11032555	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11032556	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11032557	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11032558	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11032559	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11032562	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11604651	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12224748	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12271968	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12272398	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12286749	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12417958	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12418582	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1883959	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2473900	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2611089	0.90[ASN][1000 genomes]
rs2746628	0.94[ASN][1000 genomes]
rs2746629	0.94[ASN][1000 genomes]
rs55954105	0.92[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56126876	0.92[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs7120814	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7124297	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7949361	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757435	chr11:34220504-34370236	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	esv2759816	chr11:34220504-34370236	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv1050413	chr11:34237529-34259820	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	esv2762905	chr11:34238653-34256130	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv818809	chr11:34239730-34354076	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:34226600-34244600	Weak transcription	Small Intestine	intestine
2	chr11:34235600-34245600	Weak transcription	Spleen	Spleen
3	chr11:34237200-34255600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr11:34242000-34245000	Weak transcription	Psoas Muscle	Psoas
5	chr11:34242200-34246400	Weak transcription	A549	lung
6	chr11:34243000-34245200	Enhancers	H1 Cell Line	embryonic stem cell
7	chr11:34243600-34245000	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr11:34243600-34247000	Enhancers	HepG2	liver
9	chr11:34243800-34244800	Enhancers	Fetal Lung	lung
10	chr11:34243800-34245000	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr11:34243800-34245200	Enhancers	iPS-20b Cell Line	embryonic stem cell
12	chr11:34243800-34245400	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr11:34243800-34245400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr11:34243800-34245600	Enhancers	Liver	Liver
15	chr11:34243800-34246000	Enhancers	Colon Smooth Muscle	Colon
16	chr11:34243800-34247000	Enhancers	Fetal Stomach	stomach
17	chr11:34243800-34247200	Enhancers	Rectal Mucosa Donor 31	rectum
18	chr11:34244000-34245200	Enhancers	iPS-18 Cell Line	embryonic stem cell
19	chr11:34244000-34245200	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
20	chr11:34244000-34245200	Enhancers	Fetal Muscle Leg	muscle
21	chr11:34244000-34245400	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr11:34244000-34245400	Enhancers	Rectal Mucosa Donor 29	rectum
23	chr11:34244000-34245600	Enhancers	Placenta	Placenta
24	chr11:34244000-34247000	Enhancers	Fetal Intestine Small	intestine
25	chr11:34244200-34244600	Enhancers	Brain Anterior Caudate	brain
26	chr11:34244200-34244600	Enhancers	Fetal Thymus	thymus
27	chr11:34244200-34244800	Enhancers	Skeletal Muscle Male	skeletal muscle
28	chr11:34244200-34245000	Bivalent Enhancer	Muscle Satellite Cultured Cells	--
29	chr11:34244200-34245000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr11:34244200-34245000	Enhancers	Osteobl	bone
31	chr11:34244200-34245200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr11:34244200-34245200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr11:34244200-34245200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr11:34244200-34245200	Enhancers	Ovary	ovary
35	chr11:34244200-34245200	Enhancers	NHDF-Ad	bronchial
36	chr11:34244200-34245400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
37	chr11:34244200-34245400	Enhancers	iPS-15b Cell Line	embryonic stem cell
38	chr11:34244200-34245400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr11:34244200-34245400	Enhancers	Adipose Nuclei	Adipose
40	chr11:34244200-34245400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
41	chr11:34244200-34245400	Enhancers	Fetal Muscle Trunk	muscle
42	chr11:34244200-34245400	Enhancers	Skeletal Muscle Female	skeletal muscle
43	chr11:34244200-34245600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr11:34244200-34245600	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr11:34244200-34245600	Enhancers	Duodenum Smooth Muscle	Duodenum
46	chr11:34244200-34245600	Enhancers	Fetal Kidney	kidney
47	chr11:34244200-34245600	Enhancers	Stomach Mucosa	stomach
48	chr11:34244200-34247000	Enhancers	Duodenum Mucosa	Duodenum
49	chr11:34244400-34244600	Flanking Active TSS	Rectal Smooth Muscle	rectum
50	chr11:34244400-34244600	Flanking Active TSS	NHLF	lung

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