Variant report

Variant	rs12595168
Chromosome Location	chr15:74609703-74609704
allele	C/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	MAZ	chr15:74609604-74610710	IMR90	lung:	n/a	chr15:74610364-74610373
2	MAX	chr15:74609697-74609815	NB4	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:74607938..74610112-chr15:74637389..74639139,2	K562	blood:
2	chr15:74606974..74610112-chr15:74636759..74639139,3	K562	blood:
3	chr15:74607624..74610095-chr15:74613523..74615057,2	MCF-7	breast:

Variant related genes	Relation type
CCDC33	TF binding region

Extended variants
information (count: 5 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs4505257	0.83[AMR][1000 genomes]
rs58844886	0.83[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833054	chr15:74457643-74625283	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv428641	chr15:74555113-74724630	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	34 gene(s)	inside rSNPs	diseases
3	nsv482615	chr15:74593625-74757962	Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	58 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:74596600-74609800	Weak transcription	A549	lung
2	chr15:74603000-74610800	Enhancers	Fetal Brain Male	brain
3	chr15:74604200-74613400	Enhancers	Placenta	Placenta
4	chr15:74604400-74613200	Enhancers	Fetal Thymus	thymus
5	chr15:74604800-74623400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr15:74605200-74613400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
7	chr15:74605400-74611200	Enhancers	Fetal Muscle Trunk	muscle
8	chr15:74605600-74610200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr15:74606200-74612600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr15:74606200-74613400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr15:74606400-74613400	Enhancers	Fetal Muscle Leg	muscle
12	chr15:74606600-74611200	Enhancers	Brain Germinal Matrix	brain
13	chr15:74606600-74613400	Enhancers	Fetal Brain Female	brain
14	chr15:74607000-74611400	Enhancers	NH-A	brain
15	chr15:74607000-74613000	Enhancers	Primary hematopoietic stem cells	blood
16	chr15:74607200-74609800	Enhancers	Skeletal Muscle Male	skeletal muscle
17	chr15:74607200-74610000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr15:74607200-74610000	Enhancers	NHDF-Ad	bronchial
19	chr15:74607200-74611600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr15:74607200-74611800	Enhancers	Left Ventricle	heart
21	chr15:74607200-74612000	Enhancers	Right Ventricle	heart
22	chr15:74607200-74612600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr15:74607200-74613000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr15:74607200-74613200	Enhancers	Skeletal Muscle Female	skeletal muscle
25	chr15:74607200-74613400	Enhancers	Cortex derived primary cultured neurospheres	brain
26	chr15:74607400-74609800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr15:74607400-74609800	Enhancers	Primary T cells fromperipheralblood	blood
28	chr15:74607400-74613200	Enhancers	Adipose Nuclei	Adipose
29	chr15:74607600-74609800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr15:74607600-74609800	Weak transcription	Aorta	Aorta
31	chr15:74607600-74610600	Enhancers	Duodenum Smooth Muscle	Duodenum
32	chr15:74607600-74611600	Enhancers	HSMMtube	muscle
33	chr15:74607600-74613400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr15:74607800-74610400	Weak transcription	Small Intestine	intestine
35	chr15:74607800-74612000	Enhancers	NHLF	lung
36	chr15:74607800-74613000	Enhancers	Fetal Stomach	stomach
37	chr15:74608000-74609800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
38	chr15:74608000-74612600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr15:74608000-74613000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
40	chr15:74608200-74609800	Weak transcription	HUES48 Cell Line	embryonic stem cell
41	chr15:74608200-74609800	Weak transcription	HUES64 Cell Line	embryonic stem cell
42	chr15:74608200-74609800	Enhancers	Primary hematopoietic stem cells short term culture	blood
43	chr15:74608200-74609800	Weak transcription	Placenta Amnion	Placenta Amnion
44	chr15:74608200-74610400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr15:74608200-74610400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr15:74608200-74611000	Weak transcription	Primary T helper cells PMA-I stimulated	--
47	chr15:74608200-74611200	Weak transcription	Duodenum Mucosa	Duodenum
48	chr15:74608200-74613200	Enhancers	GM12878-XiMat	blood
49	chr15:74608400-74609800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr15:74608400-74609800	Weak transcription	HSMM	muscle

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