Variant report

Variant	rs147580146
Chromosome Location	chr12:48045500-48045501
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:48044022..48046311-chr12:48051570..48054955,3	K562	blood:
2	chr12:48044527..48046603-chr12:48048041..48049724,2	K562	blood:
3	chr12:48045147..48046102-chr12:48080596..48081443,2	K562	blood:
4	chr12:48045249..48046046-chr12:48080121..48081065,3	MCF-7	breast:

Extended variants
information (count: 8 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv430507	chr12:47883933-48079507	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	esv2751101	chr12:47940858-48126885	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
3	esv2761737	chr12:47946795-48045722	Enhancers ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv1053061	chr12:47946795-48045722	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv1050043	chr12:47949004-48087218	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv899058	chr12:48012390-48082482	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv695	chr12:48043261-48088221	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv521329	chr12:48044011-48051456	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:48007400-48055400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr12:48015600-48055200	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr12:48029400-48055400	Weak transcription	Thymus	Thymus
4	chr12:48029800-48098800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr12:48031000-48083200	Weak transcription	Esophagus	oesophagus
6	chr12:48031200-48051400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr12:48031200-48053200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr12:48031400-48046200	Weak transcription	Fetal Stomach	stomach
9	chr12:48031400-48058400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr12:48032200-48045800	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr12:48036600-48055400	Weak transcription	Ovary	ovary
12	chr12:48038200-48059400	Weak transcription	Small Intestine	intestine
13	chr12:48038600-48051400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr12:48038800-48045800	Weak transcription	Primary T cells from cord blood	blood
15	chr12:48038800-48046000	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr12:48039000-48052800	Weak transcription	Dnd41	blood
17	chr12:48039200-48046000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr12:48039200-48046200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr12:48039200-48052800	Weak transcription	Fetal Intestine Large	intestine
20	chr12:48039400-48058400	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr12:48040000-48051400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr12:48040200-48045600	Weak transcription	Primary hematopoietic stem cells	blood
23	chr12:48040200-48050000	Weak transcription	Primary B cells from cord blood	blood
24	chr12:48040600-48045600	Weak transcription	Fetal Kidney	kidney
25	chr12:48040600-48086000	Weak transcription	Fetal Brain Male	brain
26	chr12:48042200-48058400	Weak transcription	Fetal Muscle Trunk	muscle
27	chr12:48042400-48046000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr12:48042400-48046000	Weak transcription	HUES64 Cell Line	embryonic stem cell
29	chr12:48042400-48060200	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr12:48042600-48046200	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr12:48042600-48054800	Weak transcription	Placenta	Placenta
32	chr12:48042800-48046200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr12:48043000-48045800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr12:48043200-48046400	Weak transcription	K562	blood
35	chr12:48043200-48054600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr12:48043400-48080000	Weak transcription	NHEK	skin
37	chr12:48043800-48053600	Weak transcription	Left Ventricle	heart
38	chr12:48043800-48055600	Weak transcription	Right Ventricle	heart
39	chr12:48044000-48046800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr12:48044200-48045600	Enhancers	Osteobl	bone
41	chr12:48044200-48046000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr12:48044200-48046600	Enhancers	GM12878-XiMat	blood
43	chr12:48044200-48046800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr12:48044400-48045600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr12:48044400-48046600	Enhancers	Rectal Smooth Muscle	rectum
46	chr12:48044400-48046800	Enhancers	Breast Myoepithelial Primary Cells	Breast
47	chr12:48044600-48045600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr12:48044600-48046000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr12:48044600-48046600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr12:48044600-48046600	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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