Variant report

Variant	rs539750447
Chromosome Location	chr12:9164409-9164410
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:9157659..9159439-chr12:9161450..9164436,2	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	nsv832327	chr12:9081779-9246220	Active TSS Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv1045317	chr12:9113216-9544655	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	38 gene(s)	inside rSNPs	diseases
3	esv2754892	chr12:9136351-9179007	Enhancers Flanking Active TSS Genic enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv973020	chr12:9163929-9182709	Flanking Active TSS Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:9133800-9164600	Weak transcription	Psoas Muscle	Psoas
2	chr12:9133800-9170200	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr12:9142400-9168000	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr12:9152400-9167600	Weak transcription	Left Ventricle	heart
5	chr12:9159600-9168400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
6	chr12:9160800-9164800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr12:9160800-9165400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
8	chr12:9161000-9165600	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
9	chr12:9161000-9166200	Genic enhancers	Primary T killer memory cells from peripheral blood	blood
10	chr12:9161000-9166400	Weak transcription	Monocytes-CD14+_RO01746	blood
11	chr12:9161200-9165600	Genic enhancers	Primary T cells fromperipheralblood	blood
12	chr12:9161400-9166200	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr12:9161400-9166400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr12:9161600-9164800	Genic enhancers	Primary T helper cells PMA-I stimulated	--
15	chr12:9162000-9165800	Strong transcription	Adipose Nuclei	Adipose
16	chr12:9162000-9166200	Genic enhancers	Primary T helper naive cells from peripheral blood	blood
17	chr12:9162200-9165800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
18	chr12:9162600-9164600	Enhancers	Primary T helper cells fromperipheralblood	blood
19	chr12:9162600-9167200	Weak transcription	Brain Anterior Caudate	brain
20	chr12:9163400-9165600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr12:9163600-9166000	Strong transcription	Primary T cells from cord blood	blood
22	chr12:9163600-9166200	ZNF genes & repeats	Primary hematopoietic stem cells	blood
23	chr12:9163800-9165600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
24	chr12:9163800-9166600	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr12:9164000-9165400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr12:9164200-9164600	Strong transcription	Stomach Smooth Muscle	stomach
27	chr12:9164200-9165000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
28	chr12:9164200-9165200	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
29	chr12:9164400-9166600	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood

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