Variant report

Variant	rs538290241
Chromosome Location	chr12:12600514-12600515
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:12594582..12598614-chr12:12600481..12604032,6	MCF-7	breast:
2	chr12:12598434..12601352-chr12:12712226..12715206,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000111266	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	nsv949003	chr12:11938229-12618690	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv898810	chr12:12600080-12627410	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:12589800-12607200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr12:12590400-12601800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr12:12590600-12614600	Weak transcription	Primary B cells from cord blood	blood
4	chr12:12592200-12602200	Enhancers	Fetal Thymus	thymus
5	chr12:12594400-12618200	Weak transcription	Primary B cells from peripheral blood	blood
6	chr12:12595000-12602200	Weak transcription	Placenta	Placenta
7	chr12:12595200-12602800	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr12:12595200-12609200	Weak transcription	GM12878-XiMat	blood
9	chr12:12595200-12618600	Weak transcription	Primary hematopoietic stem cells	blood
10	chr12:12596000-12602200	Weak transcription	A549	lung
11	chr12:12596000-12620200	Weak transcription	HSMM	muscle
12	chr12:12596000-12629800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr12:12596200-12620600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr12:12596400-12600600	Weak transcription	Hela-S3	cervix
15	chr12:12596400-12603200	Weak transcription	Aorta	Aorta
16	chr12:12596600-12601000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
17	chr12:12596800-12602000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr12:12596800-12602400	Weak transcription	Duodenum Mucosa	Duodenum
19	chr12:12596800-12603000	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr12:12596800-12604600	Weak transcription	NHLF	lung
21	chr12:12596800-12618200	Weak transcription	Primary T cells from cord blood	blood
22	chr12:12596800-12618200	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr12:12597000-12601600	Weak transcription	Spleen	Spleen
24	chr12:12597000-12602400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr12:12597000-12602600	Weak transcription	Esophagus	oesophagus
26	chr12:12597000-12603000	Weak transcription	Psoas Muscle	Psoas
27	chr12:12597000-12617800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr12:12597200-12603000	Weak transcription	Rectal Mucosa Donor 29	rectum
29	chr12:12597400-12601600	Weak transcription	Pancreas	Pancrea
30	chr12:12597400-12601800	Weak transcription	Liver	Liver
31	chr12:12597400-12618200	Weak transcription	Gastric	stomach
32	chr12:12597400-12629000	Weak transcription	Rectal Smooth Muscle	rectum
33	chr12:12597600-12602000	Weak transcription	Stomach Smooth Muscle	stomach
34	chr12:12598000-12602200	Enhancers	HepG2	liver
35	chr12:12598000-12607200	Weak transcription	Colon Smooth Muscle	Colon
36	chr12:12598200-12602000	Weak transcription	Small Intestine	intestine
37	chr12:12598200-12602000	Weak transcription	Stomach Mucosa	stomach
38	chr12:12598600-12600600	Enhancers	Cortex derived primary cultured neurospheres	brain
39	chr12:12598800-12600600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr12:12599000-12618600	Weak transcription	Left Ventricle	heart
41	chr12:12599200-12601000	Enhancers	Fetal Lung	lung
42	chr12:12599200-12601200	Enhancers	Primary neutrophils fromperipheralblood	blood
43	chr12:12599200-12601800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
44	chr12:12599400-12600600	Enhancers	HUES6 Cell Line	embryonic stem cell
45	chr12:12599400-12600600	Enhancers	Brain Angular Gyrus	brain
46	chr12:12599400-12601200	Enhancers	Thymus	Thymus
47	chr12:12599400-12602200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr12:12599600-12600600	Enhancers	Primary T helper naive cells from peripheral blood	blood
49	chr12:12599600-12600800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr12:12599600-12600800	Enhancers	Brain Cingulate Gyrus	brain

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