Variant report

Variant	rs8040579
Chromosome Location	chr15:41033114-41033115
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr15:41030620-41033888	K562	blood:	n/a	n/a
2	POLR2A	chr15:41032721-41033328	K562	blood:	n/a	n/a
3	POLR2A	chr15:41033073-41033181	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:41031017..41033907-chr15:41037060..41039542,3	MCF-7	breast:

Variant related genes	Relation type
RMDN3	TF binding region
ENSG00000137824	Chromatin interaction

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs10220885	1.00[EUR][1000 genomes]
rs12323939	1.00[EUR][1000 genomes]
rs16971119	1.00[EUR][1000 genomes]
rs45501094	1.00[EUR][1000 genomes]
rs45571032	1.00[EUR][1000 genomes]
rs45604436	1.00[EUR][1000 genomes]
rs55896567	1.00[EUR][1000 genomes]
rs55906732	1.00[EUR][1000 genomes]
rs56229816	1.00[EUR][1000 genomes]
rs57242620	1.00[EUR][1000 genomes]
rs57288992	1.00[EUR][1000 genomes]
rs58097169	1.00[EUR][1000 genomes]
rs58375351	1.00[EUR][1000 genomes]
rs58681580	1.00[EUR][1000 genomes]
rs58738238	1.00[EUR][1000 genomes]
rs59508492	1.00[EUR][1000 genomes]
rs59528823	1.00[EUR][1000 genomes]
rs59558714	1.00[EUR][1000 genomes]
rs60109064	1.00[EUR][1000 genomes]
rs60111609	1.00[EUR][1000 genomes]
rs60163307	1.00[EUR][1000 genomes]
rs60163948	1.00[ASN][1000 genomes]
rs60578270	1.00[EUR][1000 genomes]
rs60822673	1.00[EUR][1000 genomes]
rs61440104	1.00[ASN][1000 genomes]
rs6492962	1.00[EUR][1000 genomes]
rs6492963	1.00[EUR][1000 genomes]
rs7161941	1.00[EUR][1000 genomes]
rs7164574	1.00[EUR][1000 genomes]
rs7166733	0.97[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7167831	1.00[EUR][1000 genomes]
rs7168217	1.00[EUR][1000 genomes]
rs7169273	1.00[EUR][1000 genomes]
rs7171451	1.00[EUR][1000 genomes]
rs7171898	1.00[EUR][1000 genomes]
rs7172356	1.00[EUR][1000 genomes]
rs7178058	1.00[EUR][1000 genomes]
rs7178244	1.00[EUR][1000 genomes]
rs7182066	1.00[EUR][1000 genomes]
rs7182516	1.00[EUR][1000 genomes]
rs74011880	1.00[EUR][1000 genomes]
rs74011881	1.00[EUR][1000 genomes]
rs74011884	1.00[EUR][1000 genomes]
rs74011886	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	1.00[EUR][1000 genomes]
rs8038751	1.00[EUR][1000 genomes]
rs8039169	1.00[EUR][1000 genomes]
rs8039942	1.00[EUR][1000 genomes]
rs8040925	1.00[EUR][1000 genomes]
rs9672224	1.00[EUR][1000 genomes]
rs9744142	1.00[EUR][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	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	nsv904099	chr15:40949526-41041875	Genic enhancers Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	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
5	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

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:40998800-41038000	Weak transcription	Stomach Mucosa	stomach
2	chr15:41008200-41046600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr15:41019200-41035600	Weak transcription	Fetal Heart	heart
4	chr15:41019400-41036000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr15:41019400-41046200	Strong transcription	Fetal Stomach	stomach
6	chr15:41019600-41036200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr15:41019600-41036200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr15:41020000-41036000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
9	chr15:41020000-41043600	Strong transcription	Dnd41	blood
10	chr15:41020400-41035600	Strong transcription	K562	blood
11	chr15:41020400-41035800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr15:41020400-41036000	Strong transcription	Fetal Thymus	thymus
13	chr15:41020400-41037600	Strong transcription	Monocytes-CD14+_RO01746	blood
14	chr15:41020600-41033600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr15:41020600-41036000	Strong transcription	Placenta	Placenta
16	chr15:41020600-41036800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr15:41020600-41037800	Strong transcription	Primary monocytes fromperipheralblood	blood
18	chr15:41020600-41038200	Strong transcription	Primary neutrophils fromperipheralblood	blood
19	chr15:41020800-41035600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr15:41020800-41035600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr15:41020800-41045400	Strong transcription	Fetal Muscle Trunk	muscle
22	chr15:41021400-41033400	Strong transcription	Fetal Brain Female	brain
23	chr15:41021600-41033600	Strong transcription	Cortex derived primary cultured neurospheres	brain
24	chr15:41021600-41034800	Strong transcription	Fetal Intestine Large	intestine
25	chr15:41021600-41035800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr15:41021600-41035800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr15:41021600-41036000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr15:41021800-41034200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr15:41021800-41044600	Strong transcription	Brain Germinal Matrix	brain
30	chr15:41023200-41035600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr15:41023200-41045200	Strong transcription	Thymus	Thymus
32	chr15:41023400-41034600	Strong transcription	Fetal Intestine Small	intestine
33	chr15:41023600-41036200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr15:41023600-41036800	Strong transcription	Fetal Muscle Leg	muscle
35	chr15:41023800-41038400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr15:41023800-41045200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
37	chr15:41024600-41035400	Strong transcription	Skeletal Muscle Male	skeletal muscle
38	chr15:41024800-41033600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr15:41024800-41034000	Strong transcription	Primary B cells from peripheral blood	blood
40	chr15:41025400-41035600	Strong transcription	Primary T helper cells PMA-I stimulated	--
41	chr15:41025400-41036000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr15:41025600-41035400	Strong transcription	Liver	Liver
43	chr15:41025600-41035600	Strong transcription	Duodenum Mucosa	Duodenum
44	chr15:41025600-41045000	Strong transcription	Primary T cells from cord blood	blood
45	chr15:41025600-41045400	Strong transcription	Stomach Smooth Muscle	stomach
46	chr15:41026000-41033200	Strong transcription	Rectal Mucosa Donor 29	rectum
47	chr15:41026000-41044600	Strong transcription	Sigmoid Colon	Sigmoid Colon
48	chr15:41026200-41034800	Strong transcription	Primary T cells fromperipheralblood	blood
49	chr15:41026200-41035400	Strong transcription	Primary T helper cells fromperipheralblood	blood
50	chr15:41026200-41044600	Strong transcription	Lung	lung

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