Variant report

Variant	rs527438383
Chromosome Location	chr12:117171241-117171242
allele	-/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:117169208..117171523-chr12:117172734..117175670,2	MCF-7	breast:
2	chr12:117169181..117172410-chr12:117172557..117176005,5	MCF-7	breast:
3	chr12:117171214..117173165-chr12:117362456..117365349,2	MCF-7	breast:
4	chr12:117165095..117168822-chr12:117170823..117173766,4	MCF-7	breast:
5	chr12:117168142..117171595-chr12:117173878..117178564,5	K562	blood:

Variant related genes	Relation type
ENSG00000135119	Chromatin interaction
ENSG00000111412	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832523	chr12:117090343-117273810	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv1048004	chr12:117170738-117219076	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
3	nsv1039046	chr12:117170989-117225635	Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Enhancers 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	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:117147200-117174000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr12:117147400-117173600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr12:117149400-117174000	Weak transcription	K562	blood
4	chr12:117150800-117172600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr12:117157800-117174000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr12:117158200-117172000	Weak transcription	Stomach Smooth Muscle	stomach
7	chr12:117158200-117172000	Weak transcription	NH-A	brain
8	chr12:117158400-117172200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr12:117158400-117174000	Weak transcription	Psoas Muscle	Psoas
10	chr12:117158400-117174600	Weak transcription	Colon Smooth Muscle	Colon
11	chr12:117158600-117172000	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr12:117158600-117172600	Weak transcription	Rectal Smooth Muscle	rectum
13	chr12:117158600-117174200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
14	chr12:117158600-117174400	Weak transcription	Esophagus	oesophagus
15	chr12:117159000-117172000	Weak transcription	HMEC	breast
16	chr12:117159000-117174000	Weak transcription	Fetal Brain Male	brain
17	chr12:117159200-117174000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr12:117159800-117172000	Weak transcription	HSMMtube	muscle
19	chr12:117159800-117172200	Weak transcription	NHLF	lung
20	chr12:117160000-117174000	Weak transcription	Colonic Mucosa	Colon
21	chr12:117160200-117172200	Weak transcription	Primary hematopoietic stem cells	blood
22	chr12:117161000-117171400	Weak transcription	Liver	Liver
23	chr12:117161000-117171600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
24	chr12:117161000-117172000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr12:117161000-117172000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr12:117161000-117172000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr12:117161000-117172000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr12:117161000-117174000	Weak transcription	A549	lung
29	chr12:117161200-117172200	Weak transcription	HSMM	muscle
30	chr12:117161400-117172000	Weak transcription	Primary T helper cells PMA-I stimulated	--
31	chr12:117164800-117174600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr12:117165000-117172000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
33	chr12:117165000-117174000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
34	chr12:117165200-117171400	Weak transcription	HUES48 Cell Line	embryonic stem cell
35	chr12:117165200-117173000	Strong transcription	Primary T helper cells fromperipheralblood	blood
36	chr12:117165200-117174200	Weak transcription	Fetal Kidney	kidney
37	chr12:117165200-117174400	Weak transcription	Aorta	Aorta
38	chr12:117165400-117171600	Weak transcription	HUES64 Cell Line	embryonic stem cell
39	chr12:117165400-117172000	Weak transcription	H1 Cell Line	embryonic stem cell
40	chr12:117165400-117172000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
41	chr12:117165400-117172200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
42	chr12:117165400-117174600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
43	chr12:117165600-117171400	Weak transcription	Fetal Brain Female	brain
44	chr12:117165600-117171600	Weak transcription	Brain Hippocampus Middle	brain
45	chr12:117165600-117172000	Weak transcription	Brain Inferior Temporal Lobe	brain
46	chr12:117165600-117174000	Weak transcription	Brain Germinal Matrix	brain
47	chr12:117165800-117173200	Strong transcription	Fetal Thymus	thymus
48	chr12:117165800-117174000	Weak transcription	Fetal Heart	heart
49	chr12:117165800-117174000	Weak transcription	Pancreatic Islets	Pancreatic Islet
50	chr12:117166000-117173000	Strong transcription	Rectal Mucosa Donor 29	rectum

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