Variant report

Variant	rs142012315
Chromosome Location	chr12:118757981-118757982
allele	C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:118757471..118759212-chr12:118797464..118798984,2	K562	blood:
2	chr12:118755879..118758733-chr12:118792249..118794715,2	K562	blood:
3	chr12:118751643..118753393-chr12:118756511..118758342,2	K562	blood:
4	chr12:118756520..118758631-chr12:118810566..118812183,2	K562	blood:
5	chr12:118756336..118758349-chr12:118762596..118765319,2	K562	blood:

Variant related genes	Relation type
ENSG00000135090	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1053785	chr12:118490955-118874194	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv1038224	chr12:118648415-118791388	Strong transcription Genic enhancers Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv1040061	chr12:118648415-118800437	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv1053417	chr12:118688969-118808530	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv560390	chr12:118756336-118778232	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:118720800-118793600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr12:118732800-118767600	Weak transcription	Primary T cells from cord blood	blood
3	chr12:118738200-118761800	Weak transcription	Fetal Lung	lung
4	chr12:118745400-118768000	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr12:118745800-118766800	Weak transcription	Fetal Intestine Small	intestine
6	chr12:118745800-118767600	Weak transcription	Duodenum Mucosa	Duodenum
7	chr12:118746000-118783200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr12:118746200-118766800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr12:118746200-118785000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr12:118746600-118766600	Weak transcription	HSMM	muscle
11	chr12:118747000-118759200	Weak transcription	Lung	lung
12	chr12:118748000-118772400	Weak transcription	Primary T cells fromperipheralblood	blood
13	chr12:118749200-118765800	Weak transcription	Psoas Muscle	Psoas
14	chr12:118750600-118758000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr12:118752400-118765600	Weak transcription	Primary B cells from cord blood	blood
16	chr12:118752800-118759000	Weak transcription	Primary monocytes fromperipheralblood	blood
17	chr12:118752800-118763800	Weak transcription	Primary T helper cells fromperipheralblood	blood
18	chr12:118752800-118766400	Weak transcription	Primary T helper cells PMA-I stimulated	--
19	chr12:118752800-118783200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr12:118753800-118758400	Weak transcription	Primary neutrophils fromperipheralblood	blood
21	chr12:118754000-118764800	Weak transcription	Monocytes-CD14+_RO01746	blood
22	chr12:118754200-118758400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr12:118754400-118758600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr12:118754600-118758600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr12:118754600-118759000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr12:118754600-118764800	Weak transcription	Osteobl	bone
27	chr12:118754600-118766000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr12:118754600-118775000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr12:118754600-118782200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
30	chr12:118754800-118768200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
31	chr12:118755800-118766800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
32	chr12:118756600-118760600	Weak transcription	K562	blood
33	chr12:118756800-118759000	Weak transcription	Primary hematopoietic stem cells	blood
34	chr12:118756800-118765800	Weak transcription	Primary B cells from peripheral blood	blood
35	chr12:118757000-118759200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr12:118757200-118769000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr12:118757400-118758200	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
38	chr12:118757400-118762200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr12:118757600-118758000	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr12:118757800-118758000	ZNF genes & repeats	GM12878-XiMat	blood
41	chr12:118757800-118758200	Weak transcription	NHDF-Ad	bronchial
42	chr12:118757800-118758400	Weak transcription	Cortex derived primary cultured neurospheres	brain

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