Variant report

Variant	rs16948252
Chromosome Location	chr12:118753300-118753301
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:118751783..118754702-chr12:118810776..118812505,2	K562	blood:
2	chr12:118751643..118753393-chr12:118756511..118758342,2	K562	blood:
3	chr12:118750220..118752210-chr12:118752581..118754741,2	K562	blood:

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs16948179	0.91[EUR][1000 genomes]
rs885349	1.00[AFR][1000 genomes]

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	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

No data

Chromatin state (count:47 , 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	chr12:118746400-118754800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr12:118746600-118756000	Weak transcription	HUVEC	blood vessel
12	chr12:118746600-118766600	Weak transcription	HSMM	muscle
13	chr12:118747000-118754400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr12:118747000-118759200	Weak transcription	Lung	lung
15	chr12:118748000-118756400	Weak transcription	K562	blood
16	chr12:118748000-118772400	Weak transcription	Primary T cells fromperipheralblood	blood
17	chr12:118749200-118754000	Enhancers	Primary hematopoietic stem cells short term culture	blood
18	chr12:118749200-118765800	Weak transcription	Psoas Muscle	Psoas
19	chr12:118749600-118753800	Enhancers	Primary neutrophils fromperipheralblood	blood
20	chr12:118750600-118753600	Weak transcription	NHLF	lung
21	chr12:118750600-118754200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
22	chr12:118750600-118754600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr12:118750600-118758000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr12:118750800-118753400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr12:118750800-118753400	Weak transcription	Osteobl	bone
26	chr12:118750800-118753600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr12:118750800-118753600	Weak transcription	NHDF-Ad	bronchial
28	chr12:118750800-118754200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr12:118751000-118753600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr12:118751000-118754000	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr12:118751000-118757600	Weak transcription	Cortex derived primary cultured neurospheres	brain
32	chr12:118751800-118753800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr12:118752200-118754600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr12:118752400-118754000	Enhancers	Monocytes-CD14+_RO01746	blood
35	chr12:118752400-118755400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
36	chr12:118752400-118765600	Weak transcription	Primary B cells from cord blood	blood
37	chr12:118752600-118753400	Enhancers	GM12878-XiMat	blood
38	chr12:118752600-118756200	Weak transcription	Primary B cells from peripheral blood	blood
39	chr12:118752800-118759000	Weak transcription	Primary monocytes fromperipheralblood	blood
40	chr12:118752800-118763800	Weak transcription	Primary T helper cells fromperipheralblood	blood
41	chr12:118752800-118766400	Weak transcription	Primary T helper cells PMA-I stimulated	--
42	chr12:118752800-118783200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
43	chr12:118753000-118753600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
44	chr12:118753000-118754000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
45	chr12:118753000-118754200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr12:118753000-118754600	Enhancers	NHEK	skin
47	chr12:118753200-118756600	Weak transcription	Primary hematopoietic stem cells	blood

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