Variant report

Variant	rs189343722
Chromosome Location	chr12:9896067-9896068
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:9884042..9890048-chr12:9890384..9897967,9	K562	blood:
2	chr12:9894583..9897209-chr12:9902973..9905034,4	K562	blood:
3	chr12:9895231..9897767-chr12:9915766..9917544,2	K562	blood:

Variant related genes	Relation type
ENSG00000184293	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	esv2758293	chr12:9371595-9923529	Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	40 gene(s)	inside rSNPs	diseases
2	esv2759878	chr12:9371595-9923529	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	40 gene(s)	inside rSNPs	diseases
3	nsv8911	chr12:9895900-9897691	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:9890400-9897600	Weak transcription	HUVEC	blood vessel
2	chr12:9892800-9903200	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr12:9893000-9896400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
4	chr12:9893000-9896800	Enhancers	Primary B cells from peripheral blood	blood
5	chr12:9893400-9910800	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr12:9893600-9896200	Enhancers	Monocytes-CD14+_RO01746	blood
7	chr12:9894200-9896200	Enhancers	Fetal Thymus	thymus
8	chr12:9894200-9896800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr12:9894400-9896200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
10	chr12:9894800-9896400	Flanking Active TSS	GM12878-XiMat	blood
11	chr12:9895200-9896400	Enhancers	Duodenum Mucosa	Duodenum
12	chr12:9895400-9896600	Enhancers	Primary B cells from cord blood	blood
13	chr12:9895600-9896200	Enhancers	Dnd41	blood
14	chr12:9895600-9896400	Enhancers	K562	blood
15	chr12:9895600-9896800	Enhancers	Primary hematopoietic stem cells short term culture	blood
16	chr12:9895600-9896800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr12:9895600-9897200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
18	chr12:9895600-9897200	Enhancers	Primary T helper cells fromperipheralblood	blood
19	chr12:9895600-9897400	Enhancers	Primary T cells fromperipheralblood	blood
20	chr12:9895600-9906000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr12:9895800-9896200	Enhancers	Primary T helper cells PMA-I stimulated	--
22	chr12:9895800-9896600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
23	chr12:9895800-9896600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
24	chr12:9895800-9896800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr12:9895800-9896800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
26	chr12:9895800-9897200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
27	chr12:9895800-9897400	Enhancers	Primary T cells from cord blood	blood
28	chr12:9895800-9897400	Enhancers	Primary T killer memory cells from peripheral blood	blood
29	chr12:9895800-9898000	Enhancers	Primary T helper naive cells from peripheral blood	blood
30	chr12:9895800-9903200	Weak transcription	Primary hematopoietic stem cells	blood

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