Variant report

Variant	rs565489654
Chromosome Location	chr12:4716241-4716242
allele	A/C
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	GATA2	chr12:4716221-4716549	SH-SY5Y	brain:	n/a	chr12:4716386-4716402 chr12:4716391-4716408 chr12:4716387-4716397 chr12:4716390-4716397 chr12:4716390-4716399 chr12:4716383-4716404 chr12:4716388-4716400 chr12:4716386-4716402 chr12:4716389-4716399
2	EP300	chr12:4716075-4716598	SK-N-SH_RA	brain:	n/a	chr12:4716195-4716205
3	GATA3	chr12:4716078-4716652	SH-SY5Y	brain:	n/a	chr12:4716386-4716402 chr12:4716391-4716408 chr12:4716387-4716397 chr12:4716390-4716397 chr12:4716390-4716399 chr12:4716383-4716404 chr12:4716388-4716400 chr12:4716386-4716402 chr12:4716389-4716399
4	CTCF	chr12:4716120-4716270	BE2_C	brain:	n/a	n/a
5	RAD21	chr12:4716124-4716440	SK-N-SH_RA	brain:	n/a	n/a
6	EP300	chr12:4716066-4716596	SK-N-SH_RA	brain:	n/a	chr12:4716195-4716205

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:4715702..4719110-chr12:4719525..4722538,3	K562	blood:
2	chr12:4711350..4714063-chr12:4715790..4718372,3	K562	blood:

Variant related genes	Relation type
ENSG00000256748	TF binding region
DYRK4	TF binding region
ENSG00000256748	Chromatin interaction
ENSG00000010219	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

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	nsv557123	chr12:4436632-4736569	Transcr. at gene 5' and 3' Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv832318	chr12:4655799-4875837	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
3	nsv898617	chr12:4715082-4768619	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:4714400-4716400	Weak transcription	Lung	lung
2	chr12:4714400-4719400	Weak transcription	Spleen	Spleen
3	chr12:4714400-4722800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr12:4714400-4724800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr12:4714400-4726400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr12:4714600-4718400	Weak transcription	Primary B cells from peripheral blood	blood
7	chr12:4714600-4718600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr12:4714600-4719200	Weak transcription	Aorta	Aorta
9	chr12:4714600-4719200	Weak transcription	Placenta	Placenta
10	chr12:4714600-4719800	Weak transcription	Psoas Muscle	Psoas
11	chr12:4714600-4721600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr12:4714600-4721800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr12:4714600-4721800	Weak transcription	Brain Germinal Matrix	brain
14	chr12:4714600-4721800	Weak transcription	Fetal Muscle Trunk	muscle
15	chr12:4714600-4722200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr12:4714600-4725400	Weak transcription	Fetal Muscle Leg	muscle
17	chr12:4714600-4726200	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr12:4714600-4726800	Weak transcription	Right Ventricle	heart
19	chr12:4714800-4716400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
20	chr12:4714800-4716400	Enhancers	Brain Substantia Nigra	brain
21	chr12:4714800-4716400	Enhancers	Fetal Intestine Large	intestine
22	chr12:4714800-4716600	Enhancers	Fetal Intestine Small	intestine
23	chr12:4714800-4716600	Weak transcription	Right Atrium	heart
24	chr12:4714800-4718800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr12:4714800-4719200	Weak transcription	Fetal Thymus	thymus
26	chr12:4714800-4719400	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr12:4714800-4719400	Weak transcription	Adipose Nuclei	Adipose
28	chr12:4714800-4719400	Weak transcription	Colonic Mucosa	Colon
29	chr12:4714800-4720000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr12:4714800-4721600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr12:4714800-4721600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr12:4714800-4721800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
33	chr12:4714800-4722200	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr12:4714800-4722400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr12:4714800-4724400	Weak transcription	H1 Cell Line	embryonic stem cell
36	chr12:4714800-4725800	Weak transcription	Fetal Brain Male	brain
37	chr12:4714800-4726600	Weak transcription	Placenta Amnion	Placenta Amnion
38	chr12:4715000-4716600	Enhancers	Primary T helper cells fromperipheralblood	blood
39	chr12:4715000-4718200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
40	chr12:4715000-4719400	Weak transcription	HSMMtube	muscle
41	chr12:4715000-4720400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr12:4715000-4722200	Weak transcription	A549	lung
43	chr12:4715000-4722400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
44	chr12:4715200-4716400	Enhancers	Breast Myoepithelial Primary Cells	Breast
45	chr12:4715200-4716400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr12:4715200-4716400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr12:4715200-4716400	Weak transcription	Monocytes-CD14+_RO01746	blood
48	chr12:4715200-4716400	Weak transcription	NHEK	skin
49	chr12:4715200-4716600	Weak transcription	Skeletal Muscle Female	skeletal muscle
50	chr12:4715200-4717000	Weak transcription	Primary B cells from cord blood	blood

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