Variant report

Variant	rs74015729
Chromosome Location	chr15:52043041-52043042
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:5 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr15:52041917-52044815	Raji	blood:	n/a	n/a
2	POLR2A	chr15:52042188-52043672	GM12891	blood:	n/a	n/a
3	HCFC1	chr15:52043000-52044637	Hela-S3	cervix:	n/a	n/a
4	RELA	chr15:52042201-52043746	GM12891	blood:	n/a	n/a
5	MXI1	chr15:52042784-52045538	SK-N-SH	brain:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:52028180..52031136-chr15:52040562..52045385,6	MCF-7	breast:
2	chr15:51913469..51917109-chr15:52042794..52045514,3	MCF-7	breast:
3	chr15:52041956..52043686-chr15:52074164..52076601,2	MCF-7	breast:
4	chr15:52029591..52032408-chr15:52042418..52044684,3	K562	blood:
5	chr15:52016515..52018648-chr15:52040542..52043046,2	MCF-7	breast:
6	chr15:52042996..52044811-chr15:52120947..52123164,2	MCF-7	breast:
7	chr15:52027363..52032665-chr15:52041435..52046045,23	MCF-7	breast:
8	chr15:52028355..52032748-chr15:52040539..52046492,10	K562	blood:

No data

Variant related genes	Relation type
ENSG00000259377	TF binding region
TMOD2	TF binding region
ENSG00000140280	Chromatin interaction
ENSG00000128872	Chromatin interaction
ENSG00000104093	Chromatin interaction
ENSG00000138594	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10450960	1.00[AMR][1000 genomes]
rs35982081	1.00[AMR][1000 genomes]
rs55712231	1.00[AMR][1000 genomes]
rs58041881	1.00[AMR][1000 genomes]
rs59580277	1.00[AMR][1000 genomes]
rs59946322	1.00[AMR][1000 genomes]
rs74015715	1.00[AMR][1000 genomes]
rs74015720	1.00[AMR][1000 genomes]
rs74015723	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74015725	1.00[AMR][1000 genomes]
rs74015728	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74015758	1.00[AMR][1000 genomes]
rs74015760	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74015762	1.00[AMR][1000 genomes]
rs74015764	1.00[AMR][1000 genomes]
rs74015767	1.00[AMR][1000 genomes]
rs74015768	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2830011	chr15:52027777-52048710	Flanking Active TSS Bivalent Enhancer Active TSS Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	n/a
2	nsv569409	chr15:52028914-52268144	Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:52030600-52043200	Weak transcription	Gastric	stomach
2	chr15:52042600-52043200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
3	chr15:52042600-52043400	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
4	chr15:52042600-52043600	Flanking Active TSS	GM12878-XiMat	blood
5	chr15:52042800-52043200	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
6	chr15:52042800-52043400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
7	chr15:52042800-52043400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
8	chr15:52042800-52043600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
9	chr15:52042800-52043600	Flanking Active TSS	K562	blood
10	chr15:52042800-52044600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
11	chr15:52042800-52044600	Active TSS	Brain Anterior Caudate	brain
12	chr15:52042800-52044800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
13	chr15:52043000-52043200	Bivalent/Poised TSS	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr15:52043000-52043200	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
15	chr15:52043000-52043200	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
16	chr15:52043000-52043200	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr15:52043000-52043200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr15:52043000-52043200	Bivalent/Poised TSS	Primary neutrophils fromperipheralblood	blood
19	chr15:52043000-52043200	Active TSS	Primary B cells from cord blood	blood
20	chr15:52043000-52043200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
21	chr15:52043000-52043200	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
22	chr15:52043000-52043200	Enhancers	Primary T helper naive cells from peripheral blood	blood
23	chr15:52043000-52043200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
24	chr15:52043000-52043200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
25	chr15:52043000-52043200	Enhancers	Primary T helper cells fromperipheralblood	blood
26	chr15:52043000-52043200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr15:52043000-52043200	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
28	chr15:52043000-52043200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
29	chr15:52043000-52043200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr15:52043000-52043200	Bivalent Enhancer	Muscle Satellite Cultured Cells	--
31	chr15:52043000-52043200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr15:52043000-52043200	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr15:52043000-52043200	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr15:52043000-52043200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr15:52043000-52043200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
36	chr15:52043000-52043200	Enhancers	Adipose Nuclei	Adipose
37	chr15:52043000-52043200	Active TSS	Brain Angular Gyrus	brain
38	chr15:52043000-52043200	Bivalent Enhancer	Brain Germinal Matrix	brain
39	chr15:52043000-52043200	Active TSS	Colonic Mucosa	Colon
40	chr15:52043000-52043200	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
41	chr15:52043000-52043200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
42	chr15:52043000-52043200	Bivalent Enhancer	Fetal Brain Female	brain
43	chr15:52043000-52043200	Bivalent Enhancer	Fetal Intestine Large	intestine
44	chr15:52043000-52043200	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
45	chr15:52043000-52043200	Bivalent Enhancer	Fetal Lung	lung
46	chr15:52043000-52043200	Bivalent Enhancer	Fetal Muscle Leg	muscle
47	chr15:52043000-52043200	Enhancers	Placenta	Placenta
48	chr15:52043000-52043200	Bivalent Enhancer	Fetal Stomach	stomach
49	chr15:52043000-52043200	Enhancers	Fetal Thymus	thymus
50	chr15:52043000-52043200	Enhancers	Left Ventricle	heart

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