Variant report

Variant	rs570746723
Chromosome Location	chr12:66517348-66517349
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:66514117..66516247-chr12:66517268..66518852,2	MCF-7	breast:
2	chr12:66510691..66513210-chr12:66517209..66519809,2	MCF-7	breast:
3	chr12:66506596..66509423-chr12:66515723..66518011,2	K562	blood:

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 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	nsv1049537	chr12:66403269-66606174	Strong transcription Genic enhancers Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv899214	chr12:66516692-66556960	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:66501600-66517600	Weak transcription	Right Ventricle	heart
2	chr12:66502000-66518000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr12:66502400-66518400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr12:66509000-66518200	Weak transcription	Esophagus	oesophagus
5	chr12:66509000-66519800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr12:66509000-66523800	Weak transcription	Pancreas	Pancrea
7	chr12:66509200-66523600	Weak transcription	Gastric	stomach
8	chr12:66509600-66518000	Weak transcription	Ovary	ovary
9	chr12:66511400-66518200	Weak transcription	Fetal Kidney	kidney
10	chr12:66512000-66522200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr12:66512600-66518000	Weak transcription	Psoas Muscle	Psoas
12	chr12:66512800-66517800	Weak transcription	K562	blood
13	chr12:66513200-66517400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr12:66513400-66517600	Weak transcription	Colon Smooth Muscle	Colon
15	chr12:66513400-66518200	Weak transcription	Aorta	Aorta
16	chr12:66513600-66518000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr12:66513600-66518200	Weak transcription	Fetal Brain Male	brain
18	chr12:66513600-66522400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr12:66513600-66522600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr12:66513600-66522600	Strong transcription	Duodenum Smooth Muscle	Duodenum
21	chr12:66513600-66523400	Weak transcription	Small Intestine	intestine
22	chr12:66513600-66523800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr12:66513800-66518600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr12:66513800-66521000	Strong transcription	Dnd41	blood
25	chr12:66513800-66522400	Strong transcription	Fetal Thymus	thymus
26	chr12:66513800-66522600	Strong transcription	Adipose Nuclei	Adipose
27	chr12:66514000-66518000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
28	chr12:66514000-66518000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr12:66514000-66518200	Weak transcription	Colonic Mucosa	Colon
30	chr12:66514000-66522400	Strong transcription	Primary T cells fromperipheralblood	blood
31	chr12:66514000-66522600	Strong transcription	HUES64 Cell Line	embryonic stem cell
32	chr12:66514000-66522600	Strong transcription	Fetal Muscle Leg	muscle
33	chr12:66514200-66519400	Strong transcription	Primary T helper cells fromperipheralblood	blood
34	chr12:66514200-66519800	Strong transcription	HSMM	muscle
35	chr12:66514200-66521200	Strong transcription	Primary T cells from cord blood	blood
36	chr12:66514200-66521400	Strong transcription	Monocytes-CD14+_RO01746	blood
37	chr12:66514200-66522600	Strong transcription	Primary monocytes fromperipheralblood	blood
38	chr12:66514200-66522600	Strong transcription	NHDF-Ad	bronchial
39	chr12:66514200-66523200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr12:66514400-66518200	Strong transcription	Left Ventricle	heart
41	chr12:66514400-66520600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
42	chr12:66514400-66523800	Weak transcription	Spleen	Spleen
43	chr12:66514600-66519200	Strong transcription	Primary T helper cells PMA-I stimulated	--
44	chr12:66514600-66519800	Strong transcription	Fetal Muscle Trunk	muscle
45	chr12:66514600-66521600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
46	chr12:66514600-66522000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr12:66514600-66522000	Strong transcription	A549	lung
48	chr12:66514600-66522400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
49	chr12:66514600-66522600	Strong transcription	Primary neutrophils fromperipheralblood	blood
50	chr12:66514600-66522600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--

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