Variant report

Variant	rs75257472
Chromosome Location	chr12:50508532-50508533
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:50506976..50509315-chr12:50512886..50514757,3	K562	blood:
2	chr12:50504100..50507417-chr12:50508424..50511962,5	MCF-7	breast:
3	chr12:50506326..50509315-chr12:50512899..50514726,2	K562	blood:
4	chr12:50503326..50508590-chr12:50559314..50563839,9	MCF-7	breast:
5	chr12:50503967..50508677-chr12:50559559..50562905,8	MCF-7	breast:

Variant related genes	Relation type
ENSG00000139624	Chromatin interaction
ENSG00000178449	Chromatin interaction
ENSG00000272368	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1045327	chr12:49975040-50551375	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	170 gene(s)	inside rSNPs	diseases
2	nsv541490	chr12:49975040-50551375	Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	170 gene(s)	inside rSNPs	diseases
3	nsv530671	chr12:50233858-50708991	Flanking Active TSS Active TSS Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
4	esv3392138	chr12:50394642-50645326	Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
5	nsv558840	chr12:50449976-50523964	Enhancers Active TSS Genic enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
6	esv3332225	chr12:50508492-50509046	Enhancers Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:50506800-50521000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr12:50506800-50523600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr12:50507000-50508600	Enhancers	Colon Smooth Muscle	Colon
4	chr12:50507000-50508800	Enhancers	Adipose Nuclei	Adipose
5	chr12:50507000-50509200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
6	chr12:50507000-50509200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
7	chr12:50507000-50509200	Weak transcription	Gastric	stomach
8	chr12:50507000-50509400	Weak transcription	Brain Cingulate Gyrus	brain
9	chr12:50507000-50510000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr12:50507000-50510200	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr12:50507000-50510400	Weak transcription	HSMMtube	muscle
12	chr12:50507000-50513000	Weak transcription	Esophagus	oesophagus
13	chr12:50507000-50513200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr12:50507000-50513200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr12:50507000-50513600	Weak transcription	Fetal Kidney	kidney
16	chr12:50507000-50513800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr12:50507000-50520800	Weak transcription	Fetal Lung	lung
18	chr12:50507000-50520800	Weak transcription	NH-A	brain
19	chr12:50507000-50522400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr12:50507000-50522800	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr12:50507000-50522800	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr12:50507000-50523600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr12:50507000-50537400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
24	chr12:50507000-50539600	Weak transcription	Stomach Mucosa	stomach
25	chr12:50507200-50508600	Enhancers	Liver	Liver
26	chr12:50507200-50508600	Enhancers	Duodenum Smooth Muscle	Duodenum
27	chr12:50507200-50508600	Enhancers	Stomach Smooth Muscle	stomach
28	chr12:50507200-50508800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr12:50507200-50508800	Enhancers	Right Ventricle	heart
30	chr12:50507200-50509000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
31	chr12:50507200-50509200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr12:50507200-50509400	Weak transcription	HSMM	muscle
33	chr12:50507200-50509600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr12:50507200-50510000	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr12:50507200-50510200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr12:50507200-50510200	Weak transcription	NHEK	skin
37	chr12:50507200-50510400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr12:50507200-50512600	Weak transcription	HMEC	breast
39	chr12:50507200-50512800	Weak transcription	Brain Germinal Matrix	brain
40	chr12:50507200-50513000	Weak transcription	HUES64 Cell Line	embryonic stem cell
41	chr12:50507200-50513000	Weak transcription	Osteobl	bone
42	chr12:50507200-50513200	Weak transcription	HUES6 Cell Line	embryonic stem cell
43	chr12:50507200-50513200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr12:50507200-50513800	Weak transcription	Placenta Amnion	Placenta Amnion
45	chr12:50507200-50515400	Weak transcription	Fetal Brain Male	brain
46	chr12:50507200-50519000	Weak transcription	HUVEC	blood vessel
47	chr12:50507200-50520800	Weak transcription	NHDF-Ad	bronchial
48	chr12:50507200-50520800	Weak transcription	NHLF	lung
49	chr12:50507200-50521400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
50	chr12:50507200-50522600	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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