Variant report

Variant	rs571420769
Chromosome Location	chr12:104506569-104506570
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:104499633..104501724-chr12:104506063..104508976,2	MCF-7	breast:
2	chr12:104503448..104507553-chr12:104508039..104511568,3	MCF-7	breast:

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	nsv427922	chr12:104325583-104523096	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	esv1823607	chr12:104506318-104549541	Genic enhancers Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104460000-104511800	Weak transcription	Hela-S3	cervix
2	chr12:104460000-104526200	Weak transcription	Colonic Mucosa	Colon
3	chr12:104477200-104508400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr12:104480000-104508400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr12:104482800-104508200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr12:104491000-104508600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr12:104492000-104512400	Weak transcription	HMEC	breast
8	chr12:104493200-104512400	Weak transcription	Rectal Smooth Muscle	rectum
9	chr12:104493200-104514400	Weak transcription	NHEK	skin
10	chr12:104493400-104511800	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr12:104493400-104513400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr12:104493400-104514400	Weak transcription	Brain Substantia Nigra	brain
13	chr12:104493400-104519200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr12:104493400-104519800	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr12:104493600-104510800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr12:104493600-104517400	Weak transcription	Right Ventricle	heart
17	chr12:104493800-104515400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr12:104493800-104518400	Weak transcription	Gastric	stomach
19	chr12:104493800-104530600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr12:104494200-104509200	Weak transcription	Fetal Brain Male	brain
21	chr12:104494400-104508000	Weak transcription	GM12878-XiMat	blood
22	chr12:104494400-104513600	Weak transcription	Brain Germinal Matrix	brain
23	chr12:104494400-104514000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr12:104494400-104516200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr12:104494400-104516200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr12:104494400-104521000	Weak transcription	Lung	lung
27	chr12:104494400-104521200	Weak transcription	Aorta	Aorta
28	chr12:104494400-104522600	Weak transcription	Spleen	Spleen
29	chr12:104494600-104516000	Weak transcription	Fetal Stomach	stomach
30	chr12:104494800-104508400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr12:104494800-104509000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr12:104494800-104509200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr12:104495600-104508400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr12:104495600-104508400	Weak transcription	Fetal Intestine Large	intestine
35	chr12:104495600-104509000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr12:104495600-104510800	Weak transcription	Rectal Mucosa Donor 29	rectum
37	chr12:104495600-104514200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
38	chr12:104495600-104530800	Weak transcription	Esophagus	oesophagus
39	chr12:104495800-104508200	Weak transcription	Primary T cells fromperipheralblood	blood
40	chr12:104496000-104508400	Weak transcription	Muscle Satellite Cultured Cells	--
41	chr12:104497000-104506800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr12:104497000-104508200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
43	chr12:104497000-104508600	Weak transcription	HUVEC	blood vessel
44	chr12:104497000-104509600	Weak transcription	Sigmoid Colon	Sigmoid Colon
45	chr12:104497000-104514200	Weak transcription	NHLF	lung
46	chr12:104497000-104516000	Weak transcription	Ovary	ovary
47	chr12:104497000-104516200	Weak transcription	Left Ventricle	heart
48	chr12:104497000-104524600	Weak transcription	Pancreas	Pancrea
49	chr12:104497200-104508200	Weak transcription	Fetal Brain Female	brain
50	chr12:104497200-104511400	Weak transcription	NH-A	brain

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