Variant report

Variant	rs12324420
Chromosome Location	chr15:56284993-56284994
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:145381291..145384278-chr15:56284107..56286728,2	MCF-7	breast:
2	chr15:56284455..56287261-chr15:56299264..56302045,2	MCF-7	breast:
3	chr15:56282050..56287467-chr15:56534024..56538662,8	MCF-7	breast:

Variant related genes	Relation type
ENSG00000151575	Chromatin interaction
ENSG00000230183	Chromatin interaction
ENSG00000201558	Chromatin interaction
ENSG00000233396	Chromatin interaction
ENSG00000181827	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs12323965	0.91[AFR][1000 genomes]
rs62045230	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62045231	0.94[ASN][1000 genomes]
rs62045234	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62046396	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7179050	0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2761872	chr15:56211065-56426501	Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv904245	chr15:56229760-56324451	Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv457159	chr15:56255774-56321854	Strong transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	nsv569543	chr15:56255774-56321854	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
5	nsv457160	chr15:56273446-56320235	Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	n/a
6	nsv569544	chr15:56273446-56320235	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	n/a
7	nsv457161	chr15:56274443-56324451	Flanking Active TSS Enhancers Active TSS Strong transcription Weak transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	n/a
8	nsv569545	chr15:56274443-56324451	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	n/a
9	nsv569546	chr15:56274443-56337527	Active TSS Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:56248200-56285200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr15:56276400-56285000	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr15:56280400-56285200	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr15:56283200-56285000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr15:56283400-56285000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
6	chr15:56283600-56285000	Flanking Active TSS	Hela-S3	cervix
7	chr15:56283600-56285000	Flanking Active TSS	Osteobl	bone
8	chr15:56283600-56285200	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr15:56283600-56285200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr15:56283800-56285000	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr15:56283800-56285000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr15:56283800-56285000	Flanking Active TSS	Fetal Intestine Small	intestine
13	chr15:56283800-56285000	Flanking Active TSS	HUVEC	blood vessel
14	chr15:56283800-56285000	Flanking Active TSS	K562	blood
15	chr15:56283800-56285200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr15:56283800-56286800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr15:56284000-56285000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
18	chr15:56284000-56285200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr15:56284000-56285200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
20	chr15:56284000-56285200	Weak transcription	Stomach Mucosa	stomach
21	chr15:56284000-56286800	Active TSS	Right Atrium	heart
22	chr15:56284000-56287000	Active TSS	NHLF	lung
23	chr15:56284200-56285000	Flanking Active TSS	Adipose Nuclei	Adipose
24	chr15:56284200-56285000	Flanking Active TSS	NH-A	brain
25	chr15:56284200-56285200	Flanking Active TSS	Dnd41	blood
26	chr15:56284200-56286800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr15:56284200-56286800	Active TSS	Fetal Muscle Trunk	muscle
28	chr15:56284200-56287200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr15:56284400-56285000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr15:56284400-56285000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr15:56284400-56285000	Flanking Active TSS	Fetal Brain Female	brain
32	chr15:56284400-56285000	Flanking Active TSS	Fetal Muscle Leg	muscle
33	chr15:56284400-56285000	Weak transcription	Left Ventricle	heart
34	chr15:56284400-56285000	Weak transcription	Placenta Amnion	Placenta Amnion
35	chr15:56284400-56285000	Flanking Active TSS	Rectal Smooth Muscle	rectum
36	chr15:56284400-56285200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
37	chr15:56284400-56285200	Weak transcription	Esophagus	oesophagus
38	chr15:56284400-56285200	Weak transcription	Gastric	stomach
39	chr15:56284400-56285200	Weak transcription	Lung	lung
40	chr15:56284400-56285200	Weak transcription	Spleen	Spleen
41	chr15:56284400-56286400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr15:56284400-56286400	Active TSS	Stomach Smooth Muscle	stomach
43	chr15:56284400-56286400	Active TSS	NHEK	skin
44	chr15:56284400-56286600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr15:56284400-56286600	Active TSS	Aorta	Aorta
46	chr15:56284400-56286800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr15:56284400-56286800	Active TSS	Rectal Mucosa Donor 31	rectum
48	chr15:56284600-56285000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
49	chr15:56284600-56285000	Enhancers	Primary T helper cells fromperipheralblood	blood
50	chr15:56284600-56285000	Flanking Active TSS	Liver	Liver

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