Variant report

Variant	rs12904444
Chromosome Location	chr15:75299237-75299238
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	PAX5	chr15:75299071-75299425	GM12878	blood:	n/a	n/a
2	PAX5	chr15:75299074-75299452	GM12878	blood:	n/a	n/a
3	PAX5	chr15:75299165-75299364	GM12878	blood:	n/a	n/a
4	PAX5	chr15:75299059-75299399	GM12878	blood:	n/a	n/a
5	RUNX3	chr15:75299216-75299808	GM12878	blood:	n/a	n/a
6	PAX5	chr15:75299037-75299272	GM12892	blood:	n/a	n/a
7	NFIC	chr15:75299207-75299890	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:75298103..75301325-chr15:75314824..75318127,4	K562	blood:
2	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: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs12902280	1.00[AFR][1000 genomes]
rs12910659	1.00[AFR][1000 genomes]
rs34049615	1.00[AFR][1000 genomes]
rs34838371	1.00[AFR][1000 genomes]
rs34843990	1.00[AFR][1000 genomes]
rs35346664	1.00[AFR][1000 genomes]
rs36000415	1.00[AFR][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:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:75289000-75315800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr15:75289400-75299600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr15:75289400-75305000	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr15:75289400-75305000	Weak transcription	Brain Substantia Nigra	brain
5	chr15:75289400-75305600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr15:75289400-75315400	Weak transcription	Fetal Kidney	kidney
7	chr15:75289600-75304000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr15:75289600-75305400	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr15:75289800-75299600	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr15:75289800-75304000	Weak transcription	Brain Hippocampus Middle	brain
11	chr15:75290000-75303600	Weak transcription	Brain Angular Gyrus	brain
12	chr15:75290000-75303800	Weak transcription	Brain Cingulate Gyrus	brain
13	chr15:75290000-75304400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr15:75290000-75304400	Weak transcription	HepG2	liver
15	chr15:75290000-75309400	Weak transcription	Gastric	stomach
16	chr15:75290000-75316000	Weak transcription	Small Intestine	intestine
17	chr15:75290200-75302400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr15:75290400-75304800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr15:75290400-75304800	Weak transcription	Brain Anterior Caudate	brain
20	chr15:75290600-75304400	Weak transcription	Fetal Stomach	stomach
21	chr15:75291400-75299600	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr15:75291400-75305400	Weak transcription	Fetal Brain Male	brain
23	chr15:75292000-75305000	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr15:75292600-75305400	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr15:75293000-75304000	Weak transcription	Fetal Intestine Large	intestine
26	chr15:75293200-75315800	Weak transcription	Duodenum Mucosa	Duodenum
27	chr15:75294600-75312200	Weak transcription	Adipose Nuclei	Adipose
28	chr15:75294600-75315600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr15:75296800-75302000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr15:75296800-75303600	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr15:75297200-75304600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr15:75297400-75305000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr15:75297600-75303800	Weak transcription	Fetal Brain Female	brain
34	chr15:75297800-75299600	Weak transcription	Brain Germinal Matrix	brain
35	chr15:75297800-75302000	Weak transcription	Fetal Intestine Small	intestine
36	chr15:75298200-75304000	Weak transcription	Pancreas	Pancrea
37	chr15:75298200-75305600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr15:75299200-75299800	Bivalent Enhancer	Primary B cells from cord blood	blood
39	chr15:75299200-75299800	Flanking Active TSS	GM12878-XiMat	blood
40	chr15:75299200-75300200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr15:75299200-75300200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr15:75299200-75300600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
43	chr15:75299200-75300800	Enhancers	Primary hematopoietic stem cells	blood
44	chr15:75299200-75302600	Enhancers	Primary B cells from peripheral blood	blood

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