Variant report

Variant	rs7182516
Chromosome Location	chr15:41080802-41080803
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:41078916..41081260-chr15:41083932..41085617,2	MCF-7	breast:
2	chr15:41074776..41077084-chr15:41079776..41081556,2	K562	blood:
3	chr15:41034636..41037177-chr15:41079294..41081993,2	MCF-7	breast:
4	chr15:41076638..41081333-chr15:41183432..41186983,4	MCF-7	breast:
5	chr15:41079101..41081829-chr15:41185816..41187500,2	MCF-7	breast:
6	chr15:41076760..41081645-chr15:41164224..41167556,4	MCF-7	breast:
7	chr15:41070583..41072723-chr15:41080362..41082483,2	K562	blood:
8	chr15:41073963..41081336-chr15:41133817..41139655,12	MCF-7	breast:
9	chr15:41073204..41083534-chr15:41133992..41141155,16	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000104140	Chromatin interaction
ENSG00000137824	Chromatin interaction
ENSG00000166145	Chromatin interaction
ENSG00000104142	Chromatin interaction
ENSG00000264256	Chromatin interaction
ENSG00000261183	Chromatin interaction

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs10220885	1.00[EUR][1000 genomes]
rs12323939	1.00[EUR][1000 genomes]
rs16971119	1.00[EUR][1000 genomes]
rs45501094	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs45571032	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs45604436	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55896567	1.00[EUR][1000 genomes]
rs55906732	1.00[EUR][1000 genomes]
rs56229816	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57242620	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57288992	1.00[EUR][1000 genomes]
rs58097169	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58375351	1.00[EUR][1000 genomes]
rs58681580	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58738238	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59508492	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59528823	1.00[EUR][1000 genomes]
rs59558714	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60109064	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60111609	1.00[EUR][1000 genomes]
rs60163307	1.00[EUR][1000 genomes]
rs60578270	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60822673	1.00[EUR][1000 genomes]
rs6492962	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6492963	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7161941	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7164574	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7166733	1.00[EUR][1000 genomes]
rs7167831	1.00[EUR][1000 genomes]
rs7168217	1.00[EUR][1000 genomes]
rs7169273	0.80[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7171451	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7171898	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7172356	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7178058	1.00[EUR][1000 genomes]
rs7178244	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7182066	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74011880	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74011881	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74011884	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74011886	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74011887	1.00[EUR][1000 genomes]
rs74011888	1.00[EUR][1000 genomes]
rs74011933	1.00[EUR][1000 genomes]
rs74011936	1.00[EUR][1000 genomes]
rs8035580	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8038751	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8039169	1.00[EUR][1000 genomes]
rs8039942	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8040579	1.00[EUR][1000 genomes]
rs8040925	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9672224	1.00[EUR][1000 genomes]
rs9744142	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1053173	chr15:40933163-41094127	Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
2	nsv542363	chr15:40933163-41094127	Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
3	nsv904101	chr15:40979651-41275014	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
4	esv1819092	chr15:41017682-41255750	Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
5	nsv904102	chr15:41046883-41201699	Strong transcription Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
6	nsv1054764	chr15:41068625-41196410	Active TSS Strong transcription Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:41067600-41085400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr15:41068000-41087800	Weak transcription	Fetal Heart	heart
3	chr15:41072400-41083400	Weak transcription	Fetal Muscle Trunk	muscle
4	chr15:41072400-41090200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr15:41072600-41081400	Weak transcription	Fetal Muscle Leg	muscle
6	chr15:41072600-41082200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr15:41072600-41082600	Weak transcription	Primary B cells from cord blood	blood
8	chr15:41072600-41084000	Weak transcription	Brain Germinal Matrix	brain
9	chr15:41072600-41098600	Weak transcription	Fetal Brain Female	brain
10	chr15:41072600-41098600	Weak transcription	Rectal Smooth Muscle	rectum
11	chr15:41072800-41084200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr15:41075600-41081200	Weak transcription	K562	blood
13	chr15:41077400-41082200	Enhancers	Stomach Mucosa	stomach
14	chr15:41077600-41081600	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr15:41077600-41081800	Enhancers	Rectal Mucosa Donor 31	rectum
16	chr15:41077600-41081800	Enhancers	HMEC	breast
17	chr15:41077800-41081600	Enhancers	Small Intestine	intestine
18	chr15:41077800-41081800	Enhancers	Duodenum Mucosa	Duodenum
19	chr15:41077800-41081800	Enhancers	Pancreas	Pancrea
20	chr15:41077800-41082000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr15:41077800-41082000	Enhancers	Fetal Lung	lung
22	chr15:41077800-41082800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
23	chr15:41078200-41098600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr15:41078400-41081600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr15:41078600-41081800	Enhancers	Colonic Mucosa	Colon
26	chr15:41078600-41082000	Enhancers	Esophagus	oesophagus
27	chr15:41078600-41082000	Enhancers	Dnd41	blood
28	chr15:41078800-41081400	Enhancers	Primary T helper naive cells from peripheral blood	blood
29	chr15:41078800-41081400	Enhancers	Primary T helper cells fromperipheralblood	blood
30	chr15:41078800-41081600	Weak transcription	HepG2	liver
31	chr15:41078800-41081800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr15:41078800-41081800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
33	chr15:41078800-41082000	Enhancers	Primary neutrophils fromperipheralblood	blood
34	chr15:41079000-41082000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
35	chr15:41079000-41082400	Enhancers	Primary hematopoietic stem cells short term culture	blood
36	chr15:41079000-41082400	Enhancers	Skeletal Muscle Male	skeletal muscle
37	chr15:41079200-41081400	Enhancers	Primary T cells fromperipheralblood	blood
38	chr15:41079400-41082000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr15:41079600-41098800	Weak transcription	Pancreatic Islets	Pancreatic Islet
40	chr15:41079800-41081800	Enhancers	Lung	lung
41	chr15:41080000-41081200	Weak transcription	Psoas Muscle	Psoas
42	chr15:41080000-41081600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr15:41080000-41084000	Weak transcription	Stomach Smooth Muscle	stomach
44	chr15:41080000-41089200	Weak transcription	Colon Smooth Muscle	Colon
45	chr15:41080000-41090400	Weak transcription	Cortex derived primary cultured neurospheres	brain
46	chr15:41080000-41094600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr15:41080000-41099000	Weak transcription	Aorta	Aorta
48	chr15:41080200-41081800	Genic enhancers	Fetal Stomach	stomach
49	chr15:41080200-41082400	Enhancers	H1 Cell Line	embryonic stem cell
50	chr15:41080200-41082800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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