Variant report

Variant	rs7972719
Chromosome Location	chr12:122879302-122879303
allele	A/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	CEBPB	chr12:122879207-122879504	IMR90	lung:	n/a	chr12:122879350-122879361
2	CEBPB	chr12:122879194-122879510	K562	blood:	n/a	chr12:122879350-122879361
3	CEBPB	chr12:122879192-122879514	K562	blood:	n/a	chr12:122879350-122879361
4	CEBPB	chr12:122879259-122879442	HepG2	liver:	n/a	chr12:122879350-122879361
5	CEBPB	chr12:122879189-122879547	A549	lung:	n/a	chr12:122879350-122879361
6	CEBPB	chr12:122879246-122879411	K562	blood:	n/a	chr12:122879350-122879361
7	CEBPB	chr12:122879244-122879439	Hela-S3	cervix:	n/a	chr12:122879350-122879361
8	CEBPB	chr12:122879132-122879596	A549	lung:	n/a	chr12:122879350-122879361
9	CEBPB	chr12:122879294-122879395	H1-hESC	embryonic stem cell:	n/a	chr12:122879350-122879361
10	CEBPB	chr12:122879088-122879720	A549	lung:	n/a	chr12:122879350-122879361
11	CHD1	chr12:122879281-122880478	IMR90	lung:	n/a	n/a
12	TCF12	chr12:122879231-122880370	SK-N-SH	brain:	n/a	n/a
13	TCF12	chr12:122879199-122879838	SK-N-SH	brain:	n/a	n/a
14	CEBPB	chr12:122879189-122879506	HepG2	liver:	n/a	chr12:122879350-122879361

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:122878851..122886809-chr12:122904517..122908613,16	MCF-7	breast:
2	chr12:122877588..122886723-chr12:122904086..122910536,22	K562	blood:

Variant related genes	Relation type
ENSG00000257097	TF binding region
ENSG00000130779	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs12297174	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12297513	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12300062	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12303070	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12303304	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12305053	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12312090	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12314651	1.00[AMR][1000 genomes]
rs12319914	1.00[AMR][1000 genomes]
rs12320418	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7294383	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7311062	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7959187	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7966324	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7976224	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7976580	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7977242	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs7980777	0.94[AFR][1000 genomes];1.00[AMR][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:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122846000-122883800	Weak transcription	Aorta	Aorta
2	chr12:122856400-122884200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr12:122860600-122905000	Weak transcription	Brain Germinal Matrix	brain
4	chr12:122862400-122883800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr12:122862600-122879400	Weak transcription	NHLF	lung
6	chr12:122862600-122881600	Weak transcription	Thymus	Thymus
7	chr12:122862600-122883800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr12:122862800-122895600	Weak transcription	Small Intestine	intestine
9	chr12:122863000-122879400	Weak transcription	Osteobl	bone
10	chr12:122863000-122883600	Weak transcription	K562	blood
11	chr12:122863000-122883800	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr12:122863200-122879400	Weak transcription	NHDF-Ad	bronchial
13	chr12:122863200-122883800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr12:122863400-122883800	Weak transcription	Brain Anterior Caudate	brain
15	chr12:122863400-122884000	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr12:122863400-122884200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
17	chr12:122863400-122884600	Weak transcription	Ovary	ovary
18	chr12:122863400-122897400	Weak transcription	Fetal Brain Female	brain
19	chr12:122863400-122897800	Weak transcription	Brain Substantia Nigra	brain
20	chr12:122863800-122879600	Weak transcription	HMEC	breast
21	chr12:122863800-122883800	Weak transcription	Brain Cingulate Gyrus	brain
22	chr12:122863800-122905000	Weak transcription	Dnd41	blood
23	chr12:122864000-122883800	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr12:122864200-122884000	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr12:122864400-122883800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr12:122865200-122879600	Weak transcription	HUVEC	blood vessel
27	chr12:122865200-122880800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr12:122865200-122883800	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr12:122865200-122885000	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr12:122865400-122879400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr12:122865400-122883800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr12:122866400-122883600	Weak transcription	Monocytes-CD14+_RO01746	blood
33	chr12:122866600-122879400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr12:122866600-122883800	Weak transcription	Primary monocytes fromperipheralblood	blood
35	chr12:122866600-122883800	Weak transcription	Primary hematopoietic stem cells	blood
36	chr12:122866600-122883800	Weak transcription	Rectal Mucosa Donor 29	rectum
37	chr12:122866600-122884000	Weak transcription	Duodenum Mucosa	Duodenum
38	chr12:122866600-122884000	Weak transcription	Spleen	Spleen
39	chr12:122866600-122888400	Weak transcription	Gastric	stomach
40	chr12:122866800-122880000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr12:122866800-122881200	Weak transcription	Fetal Muscle Leg	muscle
42	chr12:122867000-122884000	Weak transcription	Fetal Muscle Trunk	muscle
43	chr12:122867000-122885000	Weak transcription	Esophagus	oesophagus
44	chr12:122867200-122879600	Weak transcription	Liver	Liver
45	chr12:122867200-122881200	Weak transcription	Lung	lung
46	chr12:122867200-122883800	Weak transcription	Fetal Intestine Large	intestine
47	chr12:122867600-122879600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr12:122867800-122879800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
49	chr12:122867800-122880000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr12:122868000-122880000	Weak transcription	Fetal Stomach	stomach

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