Variant report

Variant	rs575770031
Chromosome Location	chr12:104720685-104720686
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:104712593..104714934-chr12:104720568..104722674,2	MCF-7	breast:
2	chr12:104529689..104531446-chr12:104719514..104721289,2	K562	blood:
3	chr12:104714067..104716870-chr12:104718571..104721290,2	K562	blood:
4	chr12:104720538..104723118-chr12:104731885..104734483,2	K562	blood:
5	chr12:104718672..104720928-chr12:104721323..104724062,2	K562	blood:
6	chr12:104696036..104697608-chr12:104720058..104722454,2	K562	blood:

Variant related genes	Relation type
ENSG00000255150	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv899494	chr12:104561521-104806232	Flanking Active TSS Weak transcription Genic enhancers Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv1046606	chr12:104606617-104763734	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv1038609	chr12:104613847-104764981	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	nsv541587	chr12:104613847-104764981	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
5	nsv1048075	chr12:104694799-104751460	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
6	nsv541588	chr12:104694799-104751460	ZNF genes & repeats Strong transcription Weak transcription Genic enhancers Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
7	esv3389472	chr12:104720281-104720759	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104683800-104723800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr12:104698400-104747600	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr12:104699400-104728400	Weak transcription	Fetal Heart	heart
4	chr12:104701000-104724400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr12:104701600-104733600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr12:104702000-104733600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr12:104702400-104746600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
8	chr12:104702400-104747400	Strong transcription	Dnd41	blood
9	chr12:104703000-104722400	Strong transcription	K562	blood
10	chr12:104703000-104749200	Strong transcription	Monocytes-CD14+_RO01746	blood
11	chr12:104703400-104738400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr12:104703400-104747800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr12:104703600-104724200	Strong transcription	Primary neutrophils fromperipheralblood	blood
14	chr12:104703600-104744000	Strong transcription	HUES6 Cell Line	embryonic stem cell
15	chr12:104703800-104733000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
16	chr12:104704400-104743600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
17	chr12:104704600-104724200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
18	chr12:104704800-104726400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr12:104704800-104747200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr12:104705000-104723800	Strong transcription	Fetal Intestine Large	intestine
21	chr12:104705000-104724200	Strong transcription	Adipose Nuclei	Adipose
22	chr12:104705000-104726000	Strong transcription	Placenta	Placenta
23	chr12:104705000-104726400	Strong transcription	Liver	Liver
24	chr12:104708400-104724000	Strong transcription	Primary monocytes fromperipheralblood	blood
25	chr12:104708400-104728400	Strong transcription	Osteobl	bone
26	chr12:104709800-104732800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr12:104709800-104749200	Strong transcription	HUVEC	blood vessel
28	chr12:104710800-104724000	Strong transcription	H1 Cell Line	embryonic stem cell
29	chr12:104711200-104722600	Strong transcription	ES-I3 Cell Line	embryonic stem cell
30	chr12:104714200-104728200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr12:104714400-104723400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr12:104715400-104726200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr12:104715600-104720800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
34	chr12:104715600-104721000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
35	chr12:104715600-104723000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr12:104715600-104734800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr12:104715800-104722800	Weak transcription	Fetal Kidney	kidney
38	chr12:104716000-104721000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
39	chr12:104716000-104721200	Weak transcription	Brain Angular Gyrus	brain
40	chr12:104716200-104727400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
41	chr12:104716400-104736600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr12:104716600-104720800	Weak transcription	Small Intestine	intestine
43	chr12:104716600-104721200	Weak transcription	Brain Substantia Nigra	brain
44	chr12:104717400-104723800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr12:104717400-104724000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
46	chr12:104717400-104724000	Strong transcription	Cortex derived primary cultured neurospheres	brain
47	chr12:104717400-104724200	Strong transcription	HMEC	breast
48	chr12:104717400-104726000	Strong transcription	Duodenum Smooth Muscle	Duodenum
49	chr12:104717400-104726000	Strong transcription	NHLF	lung
50	chr12:104717600-104721600	Strong transcription	Brain Germinal Matrix	brain

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