Variant report

Variant	rs12324515
Chromosome Location	chr15:44954275-44954276
allele	C/T
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:20)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:20 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:44907437..44910398-chr15:44952989..44955507,2	K562	blood:
2	chr15:44952527..44956177-chr15:45018956..45022716,7	MCF-7	breast:
3	chr15:44953988..44959855-chr15:44961562..44971881,15	K562	blood:
4	chr15:44951739..44957508-chr15:45000588..45008057,33	K562	blood:
5	chr15:44952988..44962373-chr15:45002018..45007307,26	MCF-7	breast:
6	chr15:44953766..44955804-chr15:45027069..45030724,4	K562	blood:
7	chr15:44951575..44958275-chr15:45001046..45006983,19	MCF-7	breast:
8	chr15:44942816..44946685-chr15:44953287..44955706,3	K562	blood:
9	chr15:44953032..44957457-chr15:44958313..44962086,6	K562	blood:
10	chr15:44953895..44957741-chr15:45015371..45022655,19	K562	blood:
11	chr15:44941335..44945302-chr15:44951536..44955435,5	K562	blood:
12	chr15:44953583..44958025-chr15:45017998..45023674,11	MCF-7	breast:
13	chr15:44953483..44956478-chr15:44958952..44962112,3	MCF-7	breast:
14	chr15:44952188..44965604-chr15:45001074..45012963,51	K562	blood:
15	chr15:44953703..44956868-chr15:45007445..45011133,5	MCF-7	breast:
16	chr15:44952664..44955644-chr15:45024060..45026873,2	MCF-7	breast:
17	chr15:44935559..44937264-chr15:44953308..44955319,2	MCF-7	breast:
18	chr15:44855147..44857762-chr15:44952802..44955479,2	MCF-7	breast:
19	chr15:44952092..44957540-chr15:45017481..45022918,18	K562	blood:
20	chr15:44828679..44830776-chr15:44954210..44955982,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000185880	Chromatin interaction
ENSG00000229474	Chromatin interaction
ENSG00000179523	Chromatin interaction
ENSG00000104131	Chromatin interaction
ENSG00000104133	Chromatin interaction
ENSG00000166710	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs12324005	0.85[MKK][hapmap]
rs13380093	0.85[MKK][hapmap]
rs1901526	1.00[AFR][1000 genomes]
rs871923	1.00[LWK][hapmap];0.85[MKK][hapmap]
rs9972451	1.00[AFR][1000 genomes]
rs9972459	1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3386433	chr15:44654644-45037538	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	135 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:44867400-44954600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr15:44890000-44954800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr15:44900800-44955000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr15:44939800-44955000	Weak transcription	Stomach Mucosa	stomach
5	chr15:44944000-44954400	Weak transcription	Colonic Mucosa	Colon
6	chr15:44944000-44954600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr15:44944200-44955000	Weak transcription	Aorta	Aorta
8	chr15:44944200-44955000	Weak transcription	Gastric	stomach
9	chr15:44944400-44954400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr15:44944400-44954600	Weak transcription	Right Ventricle	heart
11	chr15:44944800-44955000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr15:44947200-44955200	Weak transcription	Spleen	Spleen
13	chr15:44947400-44955200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr15:44947600-44954600	Weak transcription	Small Intestine	intestine
15	chr15:44947800-44954600	Weak transcription	Esophagus	oesophagus
16	chr15:44949000-44954600	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr15:44949600-44955000	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr15:44949800-44954400	Weak transcription	Thymus	Thymus
19	chr15:44949800-44955000	Weak transcription	Ovary	ovary
20	chr15:44950200-44954600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr15:44950200-44954600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr15:44950200-44954600	Weak transcription	Fetal Muscle Trunk	muscle
23	chr15:44950200-44954600	Weak transcription	Lung	lung
24	chr15:44950200-44954600	Weak transcription	Psoas Muscle	Psoas
25	chr15:44950200-44954600	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr15:44950200-44954800	Weak transcription	Fetal Heart	heart
27	chr15:44951600-44954600	Weak transcription	HSMMtube	muscle
28	chr15:44951800-44954400	Weak transcription	Fetal Brain Female	brain
29	chr15:44951800-44954600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr15:44951800-44954600	Weak transcription	Brain Anterior Caudate	brain
31	chr15:44951800-44954600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr15:44951800-44954600	Weak transcription	Fetal Lung	lung
33	chr15:44951800-44954600	Weak transcription	HSMM	muscle
34	chr15:44952000-44954400	Weak transcription	HUVEC	blood vessel
35	chr15:44952000-44954600	Weak transcription	Brain Germinal Matrix	brain
36	chr15:44952000-44954600	Weak transcription	Fetal Thymus	thymus
37	chr15:44952000-44954600	Weak transcription	Pancreas	Pancrea
38	chr15:44952000-44954800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
39	chr15:44952000-44954800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
40	chr15:44952600-44954400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
41	chr15:44952600-44954400	Weak transcription	Skeletal Muscle Female	skeletal muscle
42	chr15:44952600-44954600	Enhancers	Primary T helper naive cells from peripheral blood	blood
43	chr15:44952600-44954600	Weak transcription	Placenta	Placenta
44	chr15:44952800-44954400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
45	chr15:44952800-44954400	Enhancers	Primary T cells from cord blood	blood
46	chr15:44952800-44954600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr15:44952800-44954600	Weak transcription	HUES48 Cell Line	embryonic stem cell
48	chr15:44952800-44954600	Enhancers	Primary T killer memory cells from peripheral blood	blood
49	chr15:44952800-44954600	Enhancers	Cortex derived primary cultured neurospheres	brain
50	chr15:44952800-44954600	Weak transcription	Left Ventricle	heart

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