Variant report

Variant	rs12591954
Chromosome Location	chr15:75863986-75863987
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:75860084..75867497-chr15:75867809..75873787,11	MCF-7	breast:
2	chr15:75862791..75867744-chr15:75868149..75872408,7	MCF-7	breast:
3	chr15:75808443..75810760-chr15:75862466..75865367,2	K562	blood:
4	chr15:75863315..75865200-chr15:75868911..75871447,2	K562	blood:

Variant related genes	Relation type
ENSG00000169410	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs12591076	1.00[EUR][1000 genomes]
rs12591309	1.00[EUR][1000 genomes]
rs12592026	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12592505	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12593372	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12593870	1.00[EUR][1000 genomes]
rs12594671	1.00[EUR][1000 genomes]
rs28372857	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4886434	1.00[EUR][1000 genomes]
rs4886435	1.00[EUR][1000 genomes]
rs4886445	1.00[EUR][1000 genomes]
rs4886685	1.00[EUR][1000 genomes]
rs4886689	1.00[EUR][1000 genomes]
rs4886697	1.00[EUR][1000 genomes]
rs4886701	1.00[EUR][1000 genomes]
rs8032031	1.00[EUR][1000 genomes]
rs8035510	1.00[EUR][1000 genomes]
rs8035796	1.00[EUR][1000 genomes]
rs9788768	1.00[EUR][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	nsv531901	chr15:75600108-76019966	Genic enhancers Flanking Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	166 gene(s)	inside rSNPs	diseases
2	esv3445070	chr15:75623136-76045948	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	165 gene(s)	inside rSNPs	diseases
3	nsv530345	chr15:75628556-75951011	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	158 gene(s)	inside rSNPs	diseases
4	nsv1048028	chr15:75637515-76019967	Strong transcription Genic enhancers Weak transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	161 gene(s)	inside rSNPs	diseases
5	nsv542436	chr15:75637515-76019967	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	161 gene(s)	inside rSNPs	diseases
6	nsv482802	chr15:75686519-75899896	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
7	esv1800424	chr15:75692303-75991451	Flanking Active TSS Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	124 gene(s)	inside rSNPs	diseases
8	nsv531902	chr15:75724505-75919237	Flanking Active TSS Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
9	nsv819520	chr15:75819453-75865881	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:75819600-75865000	Weak transcription	Primary B cells from cord blood	blood
2	chr15:75819600-75866200	Weak transcription	Primary T helper cells fromperipheralblood	blood
3	chr15:75819600-75869200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr15:75819800-75869600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
5	chr15:75823800-75869600	Weak transcription	Fetal Thymus	thymus
6	chr15:75824600-75869800	Weak transcription	Fetal Muscle Trunk	muscle
7	chr15:75826400-75865600	Weak transcription	HUVEC	blood vessel
8	chr15:75826600-75865200	Weak transcription	NHEK	skin
9	chr15:75831000-75864800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr15:75833200-75865000	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr15:75833200-75865400	Weak transcription	HMEC	breast
12	chr15:75835200-75865400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr15:75835200-75866200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr15:75835800-75865000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr15:75837000-75869600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr15:75837400-75865400	Weak transcription	Colonic Mucosa	Colon
17	chr15:75837400-75869800	Weak transcription	Thymus	Thymus
18	chr15:75837600-75864400	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr15:75837600-75869400	Weak transcription	Brain Cingulate Gyrus	brain
20	chr15:75837600-75869400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr15:75839400-75865400	Weak transcription	Colon Smooth Muscle	Colon
22	chr15:75839600-75866200	Weak transcription	Left Ventricle	heart
23	chr15:75839600-75869800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr15:75844000-75864600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr15:75845000-75865200	Weak transcription	GM12878-XiMat	blood
26	chr15:75845400-75864400	Weak transcription	Primary neutrophils fromperipheralblood	blood
27	chr15:75845400-75866000	Weak transcription	Fetal Heart	heart
28	chr15:75846200-75870200	Weak transcription	Esophagus	oesophagus
29	chr15:75847400-75869600	Weak transcription	Fetal Muscle Leg	muscle
30	chr15:75852800-75868400	Weak transcription	HepG2	liver
31	chr15:75853200-75866000	Weak transcription	Pancreas	Pancrea
32	chr15:75853200-75869400	Weak transcription	Fetal Kidney	kidney
33	chr15:75854800-75869400	Weak transcription	HSMM	muscle
34	chr15:75854800-75869600	Weak transcription	Fetal Intestine Large	intestine
35	chr15:75854800-75869600	Weak transcription	Small Intestine	intestine
36	chr15:75856000-75865200	Weak transcription	HUES6 Cell Line	embryonic stem cell
37	chr15:75857200-75868400	Weak transcription	Placenta	Placenta
38	chr15:75857600-75864800	Weak transcription	Rectal Mucosa Donor 29	rectum
39	chr15:75857800-75864600	Weak transcription	HUES64 Cell Line	embryonic stem cell
40	chr15:75857800-75869600	Weak transcription	Ovary	ovary
41	chr15:75858000-75864800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr15:75858000-75869200	Weak transcription	Fetal Lung	lung
43	chr15:75858200-75864800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr15:75858200-75864800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr15:75858200-75864800	Weak transcription	Muscle Satellite Cultured Cells	--
46	chr15:75858200-75869400	Weak transcription	Duodenum Mucosa	Duodenum
47	chr15:75858400-75864600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
48	chr15:75858400-75869200	Weak transcription	HSMMtube	muscle
49	chr15:75858600-75865200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
50	chr15:75858600-75865200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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