Variant report

Variant	rs57069824
Chromosome Location	chr12:122848352-122848353
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	CEBPB	chr12:122848336-122849011	MCF-7	breast:	n/a	chr12:122848509-122848518 chr12:122848507-122848520 chr12:122848507-122848518
2	CEBPB	chr12:122848274-122848796	A549	lung:	n/a	chr12:122848509-122848518 chr12:122848507-122848520 chr12:122848507-122848518
3	CEBPB	chr12:122848352-122849030	HepG2	liver:	n/a	chr12:122848509-122848518 chr12:122848507-122848520 chr12:122848507-122848518
4	STAT3	chr12:122848345-122848493	MCF10A-Er-Src	breast:	n/a	n/a
5	CEBPB	chr12:122848347-122849017	A549	lung:	n/a	chr12:122848509-122848518 chr12:122848507-122848520 chr12:122848507-122848518
6	CEBPB	chr12:122848347-122849053	IMR90	lung:	n/a	chr12:122848509-122848518 chr12:122848507-122848520 chr12:122848507-122848518

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:122847930..122850385-chr12:123009903..123011569,2	MCF-7	breast:

Variant related genes	Relation type
RPL21P1	TF binding region
ENSG00000111011	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11834748	1.00[EUR][1000 genomes]
rs11837919	1.00[EUR][1000 genomes]
rs12578794	1.00[EUR][1000 genomes]
rs12581610	1.00[EUR][1000 genomes]
rs4758661	0.81[AFR][1000 genomes]
rs57141433	1.00[EUR][1000 genomes]
rs57302703	1.00[EUR][1000 genomes]
rs57785455	1.00[EUR][1000 genomes]
rs58010238	1.00[EUR][1000 genomes]
rs58270183	1.00[EUR][1000 genomes]
rs59731700	1.00[EUR][1000 genomes]
rs7315448	1.00[EUR][1000 genomes]
rs73419768	1.00[EUR][1000 genomes]
rs7961377	1.00[EUR][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	nsv529868	chr12:121956483-122944265	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	173 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122812800-122850600	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr12:122818400-122852800	Weak transcription	Stomach Mucosa	stomach
3	chr12:122837000-122851200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr12:122837600-122856000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr12:122838000-122868000	Weak transcription	Fetal Lung	lung
6	chr12:122838600-122852200	Weak transcription	Small Intestine	intestine
7	chr12:122839400-122850200	Weak transcription	Right Atrium	heart
8	chr12:122839600-122851400	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr12:122839600-122861800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr12:122839600-122871000	Weak transcription	Fetal Kidney	kidney
11	chr12:122840000-122852000	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr12:122840000-122861800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
13	chr12:122840000-122862600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr12:122840200-122851000	Weak transcription	NH-A	brain
15	chr12:122840200-122857800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr12:122841000-122872600	Weak transcription	Fetal Brain Male	brain
17	chr12:122843000-122848800	Strong transcription	Primary neutrophils fromperipheralblood	blood
18	chr12:122843000-122848800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr12:122843000-122849000	Strong transcription	Monocytes-CD14+_RO01746	blood
20	chr12:122843000-122849200	Strong transcription	Placenta	Placenta
21	chr12:122843200-122849000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr12:122843200-122849200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr12:122843400-122848800	Strong transcription	Primary monocytes fromperipheralblood	blood
24	chr12:122843400-122848800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr12:122843400-122851000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr12:122843600-122848800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
27	chr12:122843800-122848600	Strong transcription	Cortex derived primary cultured neurospheres	brain
28	chr12:122843800-122848800	Strong transcription	Primary T helper cells PMA-I stimulated	--
29	chr12:122843800-122848800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
30	chr12:122843800-122848800	Strong transcription	Colon Smooth Muscle	Colon
31	chr12:122843800-122848800	Strong transcription	Duodenum Mucosa	Duodenum
32	chr12:122843800-122849200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
33	chr12:122843800-122849200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr12:122844000-122848600	Strong transcription	Adipose Nuclei	Adipose
35	chr12:122844000-122849200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr12:122844200-122848600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr12:122844200-122848600	Strong transcription	Fetal Intestine Small	intestine
38	chr12:122844200-122848600	Strong transcription	Fetal Stomach	stomach
39	chr12:122844200-122848800	Strong transcription	HUES64 Cell Line	embryonic stem cell
40	chr12:122844400-122862000	Weak transcription	H9 Cell Line	embryonic stem cell
41	chr12:122844600-122851000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
42	chr12:122844800-122856000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
43	chr12:122846000-122851000	Weak transcription	HMEC	breast
44	chr12:122846000-122851200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr12:122846000-122851200	Weak transcription	Brain Angular Gyrus	brain
46	chr12:122846000-122851400	Weak transcription	Brain Anterior Caudate	brain
47	chr12:122846000-122854000	Weak transcription	GM12878-XiMat	blood
48	chr12:122846000-122865600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr12:122846000-122883800	Weak transcription	Aorta	Aorta
50	chr12:122846200-122848400	Weak transcription	HUES6 Cell Line	embryonic stem cell

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