Variant report

Variant	rs12442728
Chromosome Location	chr15:83733392-83733393
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ZNF384	chr15:83733383-83733462	GM12878	blood:	n/a	n/a
2	MXI1	chr15:83733376-83736630	IMR90	lung:	n/a	n/a
3	MXI1	chr15:83733370-83736756	SK-N-SH	brain:	n/a	n/a

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:83731812..83734557-chr15:83779300..83781603,2	K562	blood:
2	chr15:83732514..83734789-chr15:83841378..83843328,2	MCF-7	breast:
3	chr15:83733297..83738085-chr15:83874642..83880991,12	MCF-7	breast:
4	chr15:83731060..83733792-chr15:83908261..83911046,2	K562	blood:
5	chr15:83679205..83686226-chr15:83733349..83739878,12	K562	blood:
6	chr15:83733314..83735882-chr15:83870661..83874279,4	K562	blood:
7	chr15:83716790..83719307-chr15:83732798..83735567,2	MCF-7	breast:
8	chr15:83678535..83684480-chr15:83731660..83738533,12	MCF-7	breast:
9	chr15:83731075..83738271-chr15:83771545..83781798,12	K562	blood:
10	chr15:83679004..83681789-chr15:83733343..83738150,8	MCF-7	breast:
11	chr15:83731888..83734386-chr15:83806959..83808488,2	K562	blood:
12	chr15:83684589..83686265-chr15:83730370..83733896,3	K562	blood:
13	chr15:83733142..83737236-chr15:83872525..83879828,15	MCF-7	breast:

No data

Variant related genes	Relation type
MIR4515	TF binding region
ENSG00000136404	Chromatin interaction
ENSG00000249214	Chromatin interaction
ENSG00000166503	Chromatin interaction
ENSG00000169609	Chromatin interaction
ENSG00000260608	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs1272727	1.00[CHD][hapmap]
rs4258575	1.00[CHD][hapmap]

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	nsv1040336	chr15:83578947-83768335	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv482308	chr15:83584918-83747362	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 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	chr15:83700400-83734400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr15:83725000-83733800	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr15:83725400-83734600	Weak transcription	Placenta	Placenta
4	chr15:83725600-83734400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr15:83726800-83733600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr15:83727400-83734200	Weak transcription	Fetal Muscle Trunk	muscle
7	chr15:83729600-83733800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
8	chr15:83729600-83733800	Enhancers	Fetal Kidney	kidney
9	chr15:83729800-83733600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
10	chr15:83729800-83733600	Enhancers	Fetal Heart	heart
11	chr15:83729800-83733800	Enhancers	Primary T helper naive cells from peripheral blood	blood
12	chr15:83729800-83734400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
13	chr15:83730000-83733400	Enhancers	Rectal Mucosa Donor 31	rectum
14	chr15:83730200-83733400	Enhancers	Cortex derived primary cultured neurospheres	brain
15	chr15:83730200-83733600	Enhancers	NHDF-Ad	bronchial
16	chr15:83730200-83734600	Enhancers	Small Intestine	intestine
17	chr15:83730400-83734400	Enhancers	Sigmoid Colon	Sigmoid Colon
18	chr15:83730400-83734600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr15:83730600-83733400	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr15:83730600-83733600	Enhancers	Adipose Nuclei	Adipose
21	chr15:83730600-83734400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr15:83730600-83734400	Weak transcription	Esophagus	oesophagus
23	chr15:83730600-83734400	Weak transcription	Lung	lung
24	chr15:83731000-83733600	Weak transcription	HSMMtube	muscle
25	chr15:83731000-83734200	Enhancers	Primary monocytes fromperipheralblood	blood
26	chr15:83731200-83733400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
27	chr15:83731200-83734400	Enhancers	Primary neutrophils fromperipheralblood	blood
28	chr15:83731400-83733400	Enhancers	Brain Germinal Matrix	brain
29	chr15:83731400-83733800	Enhancers	Primary T helper cells fromperipheralblood	blood
30	chr15:83731400-83733800	Enhancers	Brain Substantia Nigra	brain
31	chr15:83731400-83734400	Enhancers	Primary B cells from peripheral blood	blood
32	chr15:83731400-83736800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr15:83731600-83733400	Enhancers	Primary hematopoietic stem cells	blood
34	chr15:83731600-83733400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
35	chr15:83731600-83733800	Weak transcription	Colonic Mucosa	Colon
36	chr15:83731600-83734600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
37	chr15:83731800-83733400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr15:83731800-83733400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr15:83731800-83733600	Enhancers	Liver	Liver
40	chr15:83732200-83733400	Enhancers	H1 Cell Line	embryonic stem cell
41	chr15:83732200-83734200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
42	chr15:83732200-83734600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
43	chr15:83732400-83733400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr15:83732400-83733800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr15:83732400-83734200	Active TSS	Fetal Brain Female	brain
46	chr15:83732400-83734400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr15:83732400-83734600	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
48	chr15:83732600-83733400	Weak transcription	Fetal Stomach	stomach
49	chr15:83732600-83733400	Weak transcription	Ovary	ovary
50	chr15:83732600-83733400	Enhancers	HepG2	liver

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