Variant report

Variant	rs35729680
Chromosome Location	chr12:122848953-122848954
allele	-/T
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	chr12:122848372-122848954	K562	blood:	n/a	chr12:122848509-122848518 chr12:122848507-122848520 chr12:122848507-122848518
3	CEBPB	chr12:122848745-122848956	Hela-S3	cervix:	n/a	n/a
4	CEBPB	chr12:122848352-122849030	HepG2	liver:	n/a	chr12:122848509-122848518 chr12:122848507-122848520 chr12:122848507-122848518
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
CLIP1	TF binding region
ENSG00000111011	Chromatin interaction

Extended variants
information (count: 2 )
Associated
traits (count: 0)

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	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
2	nsv973131	chr12:122848665-122851457	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	3 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	chr12:122843000-122849000	Strong transcription	Monocytes-CD14+_RO01746	blood
18	chr12:122843000-122849200	Strong transcription	Placenta	Placenta
19	chr12:122843200-122849000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr12:122843200-122849200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr12:122843400-122851000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr12:122843800-122849200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
23	chr12:122843800-122849200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr12:122844000-122849200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr12:122844400-122862000	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr12:122844600-122851000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr12:122844800-122856000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
28	chr12:122846000-122851000	Weak transcription	HMEC	breast
29	chr12:122846000-122851200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr12:122846000-122851200	Weak transcription	Brain Angular Gyrus	brain
31	chr12:122846000-122851400	Weak transcription	Brain Anterior Caudate	brain
32	chr12:122846000-122854000	Weak transcription	GM12878-XiMat	blood
33	chr12:122846000-122865600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr12:122846000-122883800	Weak transcription	Aorta	Aorta
35	chr12:122846200-122850000	Weak transcription	HUVEC	blood vessel
36	chr12:122846200-122851000	Weak transcription	K562	blood
37	chr12:122846200-122851000	Weak transcription	Osteobl	bone
38	chr12:122846200-122851200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
39	chr12:122846200-122851400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
40	chr12:122846200-122856000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
41	chr12:122846200-122856000	Weak transcription	Right Ventricle	heart
42	chr12:122846200-122859400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr12:122846200-122860800	Weak transcription	Rectal Mucosa Donor 29	rectum
44	chr12:122846200-122861600	Weak transcription	Thymus	Thymus
45	chr12:122846200-122862000	Weak transcription	Placenta Amnion	Placenta Amnion
46	chr12:122846400-122850800	Weak transcription	Hela-S3	cervix
47	chr12:122846400-122851000	Weak transcription	HepG2	liver
48	chr12:122846400-122851000	Weak transcription	NHEK	skin
49	chr12:122846400-122851200	Weak transcription	Brain Inferior Temporal Lobe	brain
50	chr12:122846400-122851200	Weak transcription	HSMM	muscle

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