Variant report

Variant	rs115254999
Chromosome Location	chr14:55360320-55360321
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:55360231..55364033-chr14:55366282..55369580,4	K562	blood:
2	chr14:55354060..55356270-chr14:55359922..55362227,2	K562	blood:
3	chr14:55359557..55360396-chr14:55599807..55600483,2	MCF-7	breast:
4	chr11:114250712..114251342-chr14:55359858..55360579,2	MCF-7	breast:
5	chr14:55032510..55035314-chr14:55358663..55360584,2	MCF-7	breast:
6	chr14:55359081..55363562-chr14:55365386..55370539,12	MCF-7	breast:
7	chr14:55359687..55364414-chr14:55366282..55370012,8	K562	blood:

Variant related genes	Relation type
ENSG00000256195	Chromatin interaction
ENSG00000131979	Chromatin interaction
ENSG00000020577	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	nsv530042	chr14:55208170-55386966	Enhancers Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv932970	chr14:55326559-55532749	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	esv3358123	chr14:55359251-55378030	Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:55345400-55368200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr14:55348400-55368200	Weak transcription	Gastric	stomach
3	chr14:55349000-55366400	Weak transcription	Hela-S3	cervix
4	chr14:55349200-55367400	Weak transcription	Fetal Intestine Large	intestine
5	chr14:55349200-55367400	Weak transcription	Thymus	Thymus
6	chr14:55349400-55367800	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr14:55349600-55367200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr14:55349600-55368000	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr14:55350000-55366400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr14:55353600-55365800	Weak transcription	Primary T cells fromperipheralblood	blood
11	chr14:55354000-55367200	Weak transcription	Primary T cells from cord blood	blood
12	chr14:55355200-55360400	Weak transcription	HMEC	breast
13	chr14:55355200-55362000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr14:55356000-55362000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr14:55356000-55362000	Weak transcription	Primary T helper cells fromperipheralblood	blood
16	chr14:55356000-55362000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr14:55356000-55362600	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr14:55356000-55368000	Weak transcription	Spleen	Spleen
19	chr14:55356400-55362200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr14:55356400-55362400	Weak transcription	Lung	lung
21	chr14:55356400-55365600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
22	chr14:55356400-55368000	Weak transcription	Small Intestine	intestine
23	chr14:55356600-55367800	Weak transcription	K562	blood
24	chr14:55356800-55364200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
25	chr14:55356800-55365400	Weak transcription	Fetal Intestine Small	intestine
26	chr14:55357000-55361800	Weak transcription	NHEK	skin
27	chr14:55357400-55361000	Weak transcription	HepG2	liver
28	chr14:55357600-55362200	Weak transcription	Pancreatic Islets	Pancreatic Islet
29	chr14:55358200-55367400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr14:55358400-55361800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr14:55358600-55367200	Weak transcription	Primary hematopoietic stem cells	blood
32	chr14:55359000-55360400	Weak transcription	Monocytes-CD14+_RO01746	blood
33	chr14:55359000-55361200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
34	chr14:55359000-55362000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr14:55359000-55364200	Weak transcription	Primary monocytes fromperipheralblood	blood
36	chr14:55359000-55366600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
37	chr14:55359000-55367400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
38	chr14:55359400-55367400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr14:55359600-55367000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr14:55360000-55360400	Enhancers	Primary B cells from peripheral blood	blood
41	chr14:55360000-55360400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
42	chr14:55360000-55360600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
43	chr14:55360000-55360600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr14:55360200-55360400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr14:55360200-55360400	Enhancers	GM12878-XiMat	blood
46	chr14:55360200-55360600	Weak transcription	Primary T helper cells PMA-I stimulated	--
47	chr14:55360200-55360800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr14:55360200-55363200	Enhancers	Liver	Liver

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