Variant report

Variant	rs543838729
Chromosome Location	chr14:65177113-65177114
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:65168529..65178400-chr14:65179583..65195815,52	MCF-7	breast:
2	chr14:65168335..65178043-chr14:65220677..65234710,31	MCF-7	breast:
3	chr14:65139588..65142521-chr14:65175762..65178559,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000126822	Chromatin interaction
ENSG00000070182	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	nsv1049097	chr14:65027753-65202018	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	esv1818582	chr14:65172898-65256685	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA	11 gene(s)	inside rSNPs	diseases
3	nsv1035833	chr14:65176371-65246181	Enhancers Strong transcription Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:65171800-65177200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
2	chr14:65172800-65178000	Enhancers	Fetal Heart	heart
3	chr14:65173000-65177600	Enhancers	Duodenum Smooth Muscle	Duodenum
4	chr14:65173200-65178000	Enhancers	Spleen	Spleen
5	chr14:65173400-65178000	Enhancers	Adipose Nuclei	Adipose
6	chr14:65173800-65178000	Enhancers	Ovary	ovary
7	chr14:65173800-65179000	Enhancers	Liver	Liver
8	chr14:65174400-65178000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
9	chr14:65175000-65178000	Enhancers	Left Ventricle	heart
10	chr14:65175200-65178600	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr14:65175200-65181000	Weak transcription	Hela-S3	cervix
12	chr14:65175200-65181800	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr14:65175400-65177200	Enhancers	Skeletal Muscle Male	skeletal muscle
14	chr14:65175800-65177600	Genic enhancers	A549	lung
15	chr14:65175800-65177800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr14:65175800-65178200	Enhancers	Primary T helper cells PMA-I stimulated	--
17	chr14:65176000-65177200	Genic enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr14:65176000-65177400	Enhancers	Rectal Mucosa Donor 31	rectum
19	chr14:65176000-65177600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr14:65176000-65177800	Enhancers	Placenta	Placenta
21	chr14:65176000-65178000	Enhancers	Brain Angular Gyrus	brain
22	chr14:65176000-65178000	Enhancers	Placenta Amnion	Placenta Amnion
23	chr14:65176000-65178000	Enhancers	Skeletal Muscle Female	skeletal muscle
24	chr14:65176000-65178200	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr14:65176000-65178200	Enhancers	Primary monocytes fromperipheralblood	blood
26	chr14:65176000-65180000	Weak transcription	Fetal Kidney	kidney
27	chr14:65176000-65186400	Weak transcription	Osteobl	bone
28	chr14:65176200-65177200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
29	chr14:65176200-65177600	Genic enhancers	Fetal Muscle Leg	muscle
30	chr14:65176200-65177600	Enhancers	Stomach Smooth Muscle	stomach
31	chr14:65176200-65178000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
32	chr14:65176200-65178000	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr14:65176200-65178200	Enhancers	Primary T helper cells fromperipheralblood	blood
34	chr14:65176200-65178400	Enhancers	Colon Smooth Muscle	Colon
35	chr14:65176200-65179000	Weak transcription	Fetal Muscle Trunk	muscle
36	chr14:65176200-65180400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
37	chr14:65176200-65181400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
38	chr14:65176200-65182000	Weak transcription	Colonic Mucosa	Colon
39	chr14:65176400-65177400	Enhancers	Rectal Smooth Muscle	rectum
40	chr14:65176400-65177800	Enhancers	iPS-18 Cell Line	embryonic stem cell
41	chr14:65176400-65177800	Enhancers	Primary T cells from cord blood	blood
42	chr14:65176400-65178000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr14:65176400-65178000	Enhancers	Brain Inferior Temporal Lobe	brain
44	chr14:65176400-65178200	Strong transcription	Fetal Stomach	stomach
45	chr14:65176400-65178200	Genic enhancers	NHEK	skin
46	chr14:65176400-65178400	Enhancers	Primary T cells fromperipheralblood	blood
47	chr14:65176400-65178400	Enhancers	Brain Anterior Caudate	brain
48	chr14:65176400-65178600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr14:65176400-65178800	Weak transcription	HUES64 Cell Line	embryonic stem cell
50	chr14:65176400-65178800	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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