Variant report

Variant	rs7181451
Chromosome Location	chr15:75300620-75300621
allele	A/G
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	NFIC	chr15:75300390-75302111	GM12878	blood:	n/a	n/a
2	NFIC	chr15:75300406-75301862	GM12878	blood:	n/a	n/a
3	SP1	chr15:75300538-75300891	GM12878	blood:	n/a	n/a
4	EP300	chr15:75300503-75300813	GM12878	blood:	n/a	n/a
5	RUNX3	chr15:75300535-75300893	GM12878	blood:	n/a	n/a
6	IKZF1	chr15:75300575-75300994	GM12878	blood:	n/a	n/a
7	TBL1XR1	chr15:75300554-75300779	GM12878	blood:	n/a	n/a
8	EP300	chr15:75300535-75301825	GM12878	blood:	n/a	chr15:75301645-75301659
9	RCOR1	chr15:75300576-75300817	GM12878	blood:	n/a	n/a
10	ZNF384	chr15:75300396-75301787	GM12878	blood:	n/a	n/a
11	CUX1	chr15:75300613-75300813	GM12878	blood:	n/a	n/a
12	SPI1	chr15:75300578-75300850	GM12891	blood:	n/a	n/a
13	MAZ	chr15:75300559-75300772	GM12878	blood:	n/a	n/a
14	EP300	chr15:75300439-75300846	GM12878	blood:	n/a	n/a
15	TBP	chr15:75300497-75300850	GM12878	blood:	n/a	n/a
16	MTA3	chr15:75300515-75301898	GM12878	blood:	n/a	n/a
17	MEF2A	chr15:75300579-75300909	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:75298103..75301325-chr15:75314824..75318127,4	K562	blood:
2	chr15:75299758..75302262-chr15:75305323..75307805,2	K562	blood:
3	chr15:75299144..75301143-chr15:75314698..75317590,3	MCF-7	breast:

Variant related genes	Relation type
SCAMP5	TF binding region
ENSG00000138621	Chromatin interaction
ENSG00000260483	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs28593408	1.00[AMR][1000 genomes]
rs35465927	1.00[AMR][1000 genomes]
rs4617828	1.00[AMR][1000 genomes]
rs56920469	1.00[AMR][1000 genomes]
rs57015557	1.00[AMR][1000 genomes]
rs73436511	1.00[AMR][1000 genomes]
rs73436523	1.00[AMR][1000 genomes]
rs8025654	1.00[AMR][1000 genomes]
rs8027865	1.00[AMR][1000 genomes]
rs8028315	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	nsv569993	chr15:75242155-75483752	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	72 gene(s)	inside rSNPs	diseases
2	nsv542435	chr15:75271788-75321117	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:75289000-75315800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr15:75289400-75305000	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr15:75289400-75305000	Weak transcription	Brain Substantia Nigra	brain
4	chr15:75289400-75305600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr15:75289400-75315400	Weak transcription	Fetal Kidney	kidney
6	chr15:75289600-75304000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr15:75289600-75305400	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr15:75289800-75304000	Weak transcription	Brain Hippocampus Middle	brain
9	chr15:75290000-75303600	Weak transcription	Brain Angular Gyrus	brain
10	chr15:75290000-75303800	Weak transcription	Brain Cingulate Gyrus	brain
11	chr15:75290000-75304400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr15:75290000-75304400	Weak transcription	HepG2	liver
13	chr15:75290000-75309400	Weak transcription	Gastric	stomach
14	chr15:75290000-75316000	Weak transcription	Small Intestine	intestine
15	chr15:75290200-75302400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr15:75290400-75304800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr15:75290400-75304800	Weak transcription	Brain Anterior Caudate	brain
18	chr15:75290600-75304400	Weak transcription	Fetal Stomach	stomach
19	chr15:75291400-75305400	Weak transcription	Fetal Brain Male	brain
20	chr15:75292000-75305000	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr15:75292600-75305400	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr15:75293000-75304000	Weak transcription	Fetal Intestine Large	intestine
23	chr15:75293200-75315800	Weak transcription	Duodenum Mucosa	Duodenum
24	chr15:75294600-75312200	Weak transcription	Adipose Nuclei	Adipose
25	chr15:75294600-75315600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr15:75296800-75302000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr15:75296800-75303600	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr15:75297200-75304600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr15:75297400-75305000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr15:75297600-75303800	Weak transcription	Fetal Brain Female	brain
31	chr15:75297800-75302000	Weak transcription	Fetal Intestine Small	intestine
32	chr15:75298200-75304000	Weak transcription	Pancreas	Pancrea
33	chr15:75298200-75305600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr15:75299200-75300800	Enhancers	Primary hematopoietic stem cells	blood
35	chr15:75299200-75302600	Enhancers	Primary B cells from peripheral blood	blood
36	chr15:75299400-75302400	Enhancers	Primary monocytes fromperipheralblood	blood
37	chr15:75299600-75302800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
38	chr15:75299800-75301400	Flanking Active TSS	Primary B cells from cord blood	blood
39	chr15:75300000-75301000	Enhancers	Fetal Thymus	thymus
40	chr15:75300000-75301200	Enhancers	Primary neutrophils fromperipheralblood	blood
41	chr15:75300000-75301800	Active TSS	Placenta	Placenta
42	chr15:75300200-75300800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
43	chr15:75300200-75301000	Enhancers	Thymus	Thymus
44	chr15:75300200-75301200	Flanking Active TSS	GM12878-XiMat	blood
45	chr15:75300200-75301600	Weak transcription	Brain Germinal Matrix	brain
46	chr15:75300200-75301800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr15:75300200-75301800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
48	chr15:75300200-75304000	Weak transcription	Brain Inferior Temporal Lobe	brain
49	chr15:75300200-75304200	Weak transcription	H9 Cell Line	embryonic stem cell
50	chr15:75300400-75300800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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