Variant report

Variant	rs544472710
Chromosome Location	chr12:66746172-66746173
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:66746100..66746625-chr12:66802819..66803678,2	MCF-7	breast:
2	chr12:66745711..66746634-chr12:67087184..67088269,6	MCF-7	breast:
3	chr12:66745697..66746293-chr12:67082336..67083172,2	MCF-7	breast:

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1052503	chr12:66293898-67269495	Weak transcription Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv541515	chr12:66293898-67269495	Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
3	nsv1051713	chr12:66745716-66889411	Strong transcription Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:66710200-66792800	Weak transcription	Fetal Kidney	kidney
2	chr12:66725400-66746400	Weak transcription	Small Intestine	intestine
3	chr12:66735000-66751200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr12:66735600-66747600	Weak transcription	Gastric	stomach
5	chr12:66735600-66751400	Weak transcription	Esophagus	oesophagus
6	chr12:66735600-66752800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr12:66735600-66755000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr12:66735800-66747200	Weak transcription	Colonic Mucosa	Colon
9	chr12:66735800-66749800	Weak transcription	Spleen	Spleen
10	chr12:66735800-66750400	Weak transcription	Duodenum Mucosa	Duodenum
11	chr12:66735800-66751000	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr12:66735800-66754600	Weak transcription	Adipose Nuclei	Adipose
13	chr12:66735800-66759800	Weak transcription	Thymus	Thymus
14	chr12:66736000-66746600	Weak transcription	Fetal Muscle Leg	muscle
15	chr12:66736000-66751000	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr12:66736000-66766400	Weak transcription	Stomach Smooth Muscle	stomach
17	chr12:66736200-66746600	Weak transcription	Fetal Lung	lung
18	chr12:66736600-66759600	Weak transcription	Primary neutrophils fromperipheralblood	blood
19	chr12:66737200-66746600	Weak transcription	Pancreas	Pancrea
20	chr12:66737200-66748000	Weak transcription	Brain Hippocampus Middle	brain
21	chr12:66737200-66749200	Weak transcription	Lung	lung
22	chr12:66737200-66751000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr12:66737400-66756600	Weak transcription	Aorta	Aorta
24	chr12:66738000-66792800	Weak transcription	Rectal Smooth Muscle	rectum
25	chr12:66738200-66770400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
26	chr12:66738800-66770400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
27	chr12:66739200-66746200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
28	chr12:66739200-66747400	Strong transcription	Primary T helper cells fromperipheralblood	blood
29	chr12:66739200-66758600	Weak transcription	Fetal Intestine Small	intestine
30	chr12:66739400-66746400	Strong transcription	Primary monocytes fromperipheralblood	blood
31	chr12:66739400-66747800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr12:66739400-66765800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
33	chr12:66739400-66766200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
34	chr12:66740000-66748600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr12:66740600-66746800	Weak transcription	Brain Anterior Caudate	brain
36	chr12:66740600-66747800	Weak transcription	Cortex derived primary cultured neurospheres	brain
37	chr12:66740800-66748200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr12:66742200-66749000	Strong transcription	Primary T cells from cord blood	blood
39	chr12:66743000-66787600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
40	chr12:66743200-66763400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr12:66743200-66763800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr12:66743400-66749600	Weak transcription	Placenta	Placenta
43	chr12:66743400-66761600	Weak transcription	Colon Smooth Muscle	Colon
44	chr12:66743600-66764000	Weak transcription	Duodenum Smooth Muscle	Duodenum
45	chr12:66744000-66755200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr12:66744400-66746200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
47	chr12:66744400-66747600	Weak transcription	Fetal Stomach	stomach
48	chr12:66744600-66767400	Weak transcription	Primary T cells fromperipheralblood	blood
49	chr12:66744800-66746800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
50	chr12:66744800-66747000	Strong transcription	Breast Myoepithelial Primary Cells	Breast

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