Variant report

Variant	rs373416573
Chromosome Location	chr12:46161616-46161617
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:46121574..46124549-chr12:46159911..46161765,2	K562	blood:

Variant related genes	Relation type
ENSG00000189079	Chromatin interaction

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	nsv899052	chr12:46068394-46175469	Active TSS Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	51 gene(s)	inside rSNPs	diseases
2	esv2758306	chr12:46149338-46349891	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	esv2759897	chr12:46149338-46349891	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
4	nsv973961	chr12:46153815-46175394	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv832396	chr12:46155424-46310583	Enhancers Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
6	esv3502075	chr12:46160578-46175160	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	esv3372521	chr12:46160588-46175158	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
8	esv3502086	chr12:46160592-46175156	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:46128200-46164600	Weak transcription	Esophagus	oesophagus
2	chr12:46132000-46161800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr12:46132000-46205200	Weak transcription	HSMM	muscle
4	chr12:46132200-46165000	Weak transcription	Lung	lung
5	chr12:46137400-46163000	Weak transcription	Fetal Intestine Large	intestine
6	chr12:46137400-46174400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr12:46137600-46161800	Weak transcription	Fetal Muscle Leg	muscle
8	chr12:46141000-46161800	Weak transcription	Fetal Muscle Trunk	muscle
9	chr12:46142000-46168400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr12:46145400-46167600	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr12:46148400-46168200	Weak transcription	Psoas Muscle	Psoas
12	chr12:46148600-46164000	Weak transcription	Primary T cells fromperipheralblood	blood
13	chr12:46149200-46162000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr12:46149600-46215400	Weak transcription	Fetal Kidney	kidney
15	chr12:46150200-46162200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr12:46150600-46162000	Weak transcription	Fetal Intestine Small	intestine
17	chr12:46150600-46163600	Weak transcription	Fetal Stomach	stomach
18	chr12:46151200-46162200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr12:46151400-46162200	Weak transcription	Primary hematopoietic stem cells	blood
20	chr12:46151400-46168800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr12:46151400-46169800	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr12:46151600-46162600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr12:46152600-46162000	Weak transcription	Primary B cells from cord blood	blood
24	chr12:46153800-46164400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr12:46156200-46162200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr12:46156200-46165200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr12:46156400-46161800	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr12:46156400-46162000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
29	chr12:46156400-46162000	Weak transcription	Brain Anterior Caudate	brain
30	chr12:46156400-46163200	Weak transcription	Fetal Lung	lung
31	chr12:46156400-46166000	Weak transcription	Small Intestine	intestine
32	chr12:46156400-46166600	Weak transcription	K562	blood
33	chr12:46156400-46169600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
34	chr12:46156800-46161800	Weak transcription	Skeletal Muscle Male	skeletal muscle
35	chr12:46156800-46164200	Weak transcription	Primary T helper cells PMA-I stimulated	--
36	chr12:46156800-46166600	Weak transcription	A549	lung
37	chr12:46157400-46164000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
38	chr12:46157400-46199600	Weak transcription	HepG2	liver
39	chr12:46158800-46161800	Weak transcription	Primary T cells from cord blood	blood
40	chr12:46159200-46162600	Weak transcription	Primary B cells from peripheral blood	blood
41	chr12:46159600-46165800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
42	chr12:46160000-46162000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr12:46160200-46162800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr12:46160800-46162000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr12:46160800-46162200	Enhancers	NHEK	skin
46	chr12:46160800-46163000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr12:46160800-46163000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr12:46161200-46161800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
49	chr12:46161200-46161800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
50	chr12:46161200-46162200	Enhancers	Colon Smooth Muscle	Colon

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