Variant report

Variant	rs4243626
Chromosome Location	chr14:64185532-64185533
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	chr14:64184690..64191125-chr14:64192176..64195844,7	MCF-7	breast:

Variant related genes	Relation type
ENSG00000126821	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs7160317	0.95[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv915909	chr14:63620440-64560369	Active TSS Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv1048645	chr14:64057327-64283872	Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
3	nsv1038825	chr14:64109441-64491720	Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
4	nsv1037824	chr14:64119493-64254025	ZNF genes & repeats Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
5	nsv1044325	chr14:64142976-64201537	Strong transcription Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	21 gene(s)	inside rSNPs	diseases
6	esv3432445	chr14:64162248-64191918	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:64130800-64192600	Weak transcription	Right Ventricle	heart
2	chr14:64145200-64192600	Weak transcription	HSMM	muscle
3	chr14:64179200-64192400	Weak transcription	Ovary	ovary
4	chr14:64180000-64192600	Weak transcription	Colon Smooth Muscle	Colon
5	chr14:64180800-64190600	Weak transcription	Pancreas	Pancrea
6	chr14:64181000-64192200	Weak transcription	HUVEC	blood vessel
7	chr14:64181000-64192400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr14:64181200-64192600	Weak transcription	K562	blood
9	chr14:64181400-64190000	Weak transcription	Hela-S3	cervix
10	chr14:64182600-64192000	Weak transcription	NHLF	lung
11	chr14:64183000-64192600	Weak transcription	Stomach Smooth Muscle	stomach
12	chr14:64183200-64185600	ZNF genes & repeats	Primary B cells from peripheral blood	blood
13	chr14:64183200-64187000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr14:64184400-64190600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr14:64184800-64186600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
16	chr14:64184800-64189800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
17	chr14:64184800-64190800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
18	chr14:64184800-64192400	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr14:64185000-64186200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr14:64185000-64186400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr14:64185000-64186600	Weak transcription	Thymus	Thymus
22	chr14:64185000-64186800	Weak transcription	Primary T helper cells PMA-I stimulated	--
23	chr14:64185000-64186800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr14:64185000-64186800	Weak transcription	Placenta	Placenta
25	chr14:64185000-64187000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr14:64185000-64190800	Weak transcription	Primary T cells from cord blood	blood
27	chr14:64185000-64192000	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr14:64185000-64192000	Weak transcription	Rectal Smooth Muscle	rectum
29	chr14:64185000-64192400	Weak transcription	Aorta	Aorta
30	chr14:64185000-64192600	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr14:64185000-64193400	Weak transcription	Left Ventricle	heart
32	chr14:64185200-64185600	ZNF genes & repeats	Primary B cells from cord blood	blood
33	chr14:64185200-64186600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr14:64185400-64186600	Weak transcription	Liver	Liver
35	chr14:64185400-64186800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
36	chr14:64185400-64187400	Weak transcription	Primary T helper cells fromperipheralblood	blood
37	chr14:64185400-64187600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
38	chr14:64185400-64189400	Weak transcription	Primary T cells fromperipheralblood	blood
39	chr14:64185400-64190800	Weak transcription	Brain Angular Gyrus	brain
40	chr14:64185400-64192000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr14:64185400-64192000	Weak transcription	Duodenum Mucosa	Duodenum
42	chr14:64185400-64192200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr14:64185400-64192200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
44	chr14:64185400-64192200	Weak transcription	Muscle Satellite Cultured Cells	--
45	chr14:64185400-64192200	Weak transcription	Duodenum Smooth Muscle	Duodenum
46	chr14:64185400-64192400	Weak transcription	A549	lung

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