Variant report

Variant	rs557924414
Chromosome Location	chr12:46591163-46591164
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:46590494..46598595-chr12:46658954..46664180,10	MCF-7	breast:

Variant related genes	Relation type
ENSG00000111371	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	nsv826360	chr12:46515374-46598243	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	esv2754441	chr12:46590364-46605239	Strong transcription ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:46579000-46594200	Weak transcription	Monocytes-CD14+_RO01746	blood
2	chr12:46581600-46603200	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr12:46582200-46603200	Weak transcription	Small Intestine	intestine
4	chr12:46583600-46591800	Weak transcription	Liver	Liver
5	chr12:46585000-46592400	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
6	chr12:46585200-46592800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr12:46585200-46593000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
8	chr12:46585400-46591800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
9	chr12:46585400-46592800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
10	chr12:46586000-46592600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
11	chr12:46586800-46595400	Strong transcription	Placenta	Placenta
12	chr12:46587000-46593000	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
13	chr12:46587400-46602000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr12:46587400-46602000	Strong transcription	Muscle Satellite Cultured Cells	--
15	chr12:46587400-46603000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr12:46587800-46601400	Strong transcription	HSMMtube	muscle
17	chr12:46588000-46593800	Strong transcription	Fetal Muscle Leg	muscle
18	chr12:46588000-46598600	Strong transcription	Primary B cells from peripheral blood	blood
19	chr12:46588000-46603000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr12:46588200-46593000	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr12:46588200-46598600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr12:46588200-46598800	Strong transcription	Primary T helper cells PMA-I stimulated	--
23	chr12:46588200-46598800	Strong transcription	Primary T helper cells fromperipheralblood	blood
24	chr12:46588200-46601200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr12:46588200-46601400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr12:46588200-46602200	Strong transcription	HUVEC	blood vessel
27	chr12:46588400-46592200	Strong transcription	Placenta Amnion	Placenta Amnion
28	chr12:46588400-46592800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
29	chr12:46588400-46593000	Strong transcription	Skeletal Muscle Male	skeletal muscle
30	chr12:46588400-46593000	Strong transcription	Stomach Smooth Muscle	stomach
31	chr12:46588400-46593800	Strong transcription	Fetal Intestine Large	intestine
32	chr12:46588400-46594200	Strong transcription	Primary T killer memory cells from peripheral blood	blood
33	chr12:46588400-46599800	Strong transcription	Primary T cells from cord blood	blood
34	chr12:46588400-46600400	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
35	chr12:46588400-46601400	Strong transcription	Rectal Mucosa Donor 29	rectum
36	chr12:46588400-46602200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
37	chr12:46588400-46602400	Strong transcription	HMEC	breast
38	chr12:46588600-46591200	Strong transcription	Fetal Heart	heart
39	chr12:46588600-46591200	ZNF genes & repeats	K562	blood
40	chr12:46588600-46592600	ZNF genes & repeats	GM12878-XiMat	blood
41	chr12:46588600-46593600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr12:46588600-46595800	Strong transcription	Fetal Brain Female	brain
43	chr12:46588600-46598800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr12:46588600-46601400	Strong transcription	Duodenum Mucosa	Duodenum
45	chr12:46588600-46602000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
46	chr12:46588600-46602400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr12:46588600-46602800	Weak transcription	Cortex derived primary cultured neurospheres	brain
48	chr12:46588800-46593200	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
49	chr12:46588800-46593600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr12:46588800-46594000	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood

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