Variant report

Variant	rs200572417
Chromosome Location	chr12:9264759-9264760
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:9248855..9251571-chr12:9264323..9266629,2	MCF-7	breast:

Extended variants
information (count: 9 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1045317	chr12:9113216-9544655	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	38 gene(s)	inside rSNPs	diseases
2	nsv898738	chr12:9205030-9274394	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv1048491	chr12:9208806-9544655	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	35 gene(s)	inside rSNPs	diseases
4	esv3504674	chr12:9243858-9318016	Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	esv3502154	chr12:9243906-9317851	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	esv3502155	chr12:9243906-9317851	Weak transcription Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
7	esv3504685	chr12:9243948-9317959	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
8	nsv527404	chr12:9250601-9435244	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
9	nsv975622	chr12:9264452-9266844	Transcr. at gene 5' and 3' Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region lncRNA	1 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	chr12:9218200-9266200	Weak transcription	Fetal Kidney	kidney
2	chr12:9219200-9266000	Weak transcription	Esophagus	oesophagus
3	chr12:9235200-9265800	Weak transcription	Fetal Muscle Trunk	muscle
4	chr12:9237200-9265200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr12:9238600-9265800	Strong transcription	Skeletal Muscle Female	skeletal muscle
6	chr12:9239600-9265000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr12:9240800-9267600	Weak transcription	Fetal Intestine Large	intestine
8	chr12:9243000-9274800	Weak transcription	Small Intestine	intestine
9	chr12:9243400-9265400	Weak transcription	Fetal Muscle Leg	muscle
10	chr12:9244200-9265200	Weak transcription	Brain Anterior Caudate	brain
11	chr12:9245000-9266000	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr12:9246200-9265200	Weak transcription	Fetal Brain Male	brain
13	chr12:9246600-9266000	Weak transcription	Brain Cingulate Gyrus	brain
14	chr12:9246600-9268600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr12:9249400-9268800	Weak transcription	Primary T helper cells PMA-I stimulated	--
16	chr12:9249600-9267600	Weak transcription	HSMMtube	muscle
17	chr12:9250600-9268200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr12:9250600-9268600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
19	chr12:9251000-9266000	Weak transcription	NHLF	lung
20	chr12:9251200-9264800	Strong transcription	Stomach Smooth Muscle	stomach
21	chr12:9251400-9268200	Weak transcription	Pancreas	Pancrea
22	chr12:9252200-9265200	Weak transcription	Colonic Mucosa	Colon
23	chr12:9252200-9268800	Weak transcription	Primary T cells from cord blood	blood
24	chr12:9252600-9264800	Weak transcription	Primary T cells fromperipheralblood	blood
25	chr12:9252600-9268400	Weak transcription	Primary T helper cells fromperipheralblood	blood
26	chr12:9252600-9268400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr12:9254200-9264800	Weak transcription	Duodenum Mucosa	Duodenum
28	chr12:9254200-9265800	Weak transcription	Gastric	stomach
29	chr12:9254200-9267600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr12:9254800-9265800	Weak transcription	Rectal Mucosa Donor 29	rectum
31	chr12:9255200-9266000	Weak transcription	Fetal Stomach	stomach
32	chr12:9257000-9265800	Weak transcription	Brain Substantia Nigra	brain
33	chr12:9257800-9264800	Weak transcription	Rectal Mucosa Donor 31	rectum
34	chr12:9258200-9265400	Weak transcription	Rectal Smooth Muscle	rectum
35	chr12:9258400-9267600	Weak transcription	Placenta	Placenta
36	chr12:9260000-9265200	Weak transcription	Psoas Muscle	Psoas
37	chr12:9260200-9267600	Weak transcription	Colon Smooth Muscle	Colon
38	chr12:9260400-9264800	Weak transcription	Right Ventricle	heart
39	chr12:9261200-9265400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr12:9261400-9264800	Weak transcription	Aorta	Aorta
41	chr12:9261400-9265000	Weak transcription	Spleen	Spleen
42	chr12:9261400-9265800	Weak transcription	Ovary	ovary
43	chr12:9261400-9266600	Weak transcription	Sigmoid Colon	Sigmoid Colon
44	chr12:9261600-9265400	Weak transcription	Lung	lung
45	chr12:9261800-9266600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr12:9262000-9265800	Weak transcription	Fetal Heart	heart
47	chr12:9262800-9264800	Weak transcription	Duodenum Smooth Muscle	Duodenum
48	chr12:9262800-9265000	Weak transcription	Skeletal Muscle Male	skeletal muscle
49	chr12:9262800-9266000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr12:9262800-9289000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood

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