Variant report

Variant	rs144682754
Chromosome Location	chr14:70086990-70086991
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:70086768..70089383-chr14:70104603..70106500,2	MCF-7	breast:
2	chr14:70077503..70080648-chr14:70081276..70089043,11	MCF-7	breast:
3	chr14:70071959..70073623-chr14:70086065..70088402,2	K562	blood:
4	chr14:70080315..70081958-chr14:70085435..70087455,2	K562	blood:
5	chr14:70085556..70087478-chr14:70119417..70121355,2	MCF-7	breast:
6	chr14:70083322..70086232-chr14:70086631..70089872,4	K562	blood:
7	chr14:70086712..70090061-chr14:70093256..70096092,3	K562	blood:

Variant related genes	Relation type
ENSG00000100647	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	nsv1049280	chr14:70036804-70172630	Weak transcription Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv542124	chr14:70036804-70172630	Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv456336	chr14:70081956-70574149	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
4	nsv565007	chr14:70081956-70574149	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
5	nsv826971	chr14:70086328-70088629	Flanking Active TSS Enhancers Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:70079600-70095800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr14:70080000-70089200	Enhancers	Small Intestine	intestine
3	chr14:70080400-70102800	Weak transcription	Fetal Brain Female	brain
4	chr14:70080600-70088200	Enhancers	Liver	Liver
5	chr14:70080600-70088800	Enhancers	Sigmoid Colon	Sigmoid Colon
6	chr14:70080800-70088800	Enhancers	Brain Substantia Nigra	brain
7	chr14:70080800-70092000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr14:70081200-70087400	Enhancers	Brain Angular Gyrus	brain
9	chr14:70081200-70088600	Enhancers	Brain Cingulate Gyrus	brain
10	chr14:70081600-70088800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr14:70082400-70092000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr14:70082400-70092000	Weak transcription	Gastric	stomach
13	chr14:70082400-70092200	Weak transcription	Fetal Muscle Trunk	muscle
14	chr14:70082600-70088000	Weak transcription	HepG2	liver
15	chr14:70082600-70088600	Enhancers	Brain Anterior Caudate	brain
16	chr14:70082600-70092600	Weak transcription	Esophagus	oesophagus
17	chr14:70082800-70087200	Enhancers	Colon Smooth Muscle	Colon
18	chr14:70082800-70089600	Enhancers	Primary B cells from peripheral blood	blood
19	chr14:70083000-70088800	Enhancers	Primary monocytes fromperipheralblood	blood
20	chr14:70083000-70088800	Enhancers	Thymus	Thymus
21	chr14:70083000-70089000	Enhancers	Adipose Nuclei	Adipose
22	chr14:70083000-70092000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr14:70083000-70092000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
24	chr14:70083200-70087800	Enhancers	Skeletal Muscle Male	skeletal muscle
25	chr14:70083200-70088800	Enhancers	Duodenum Mucosa	Duodenum
26	chr14:70083200-70091800	Enhancers	Primary T helper cells fromperipheralblood	blood
27	chr14:70083200-70092000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr14:70083200-70092000	Enhancers	Primary T cells from cord blood	blood
29	chr14:70083200-70092000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
30	chr14:70083200-70092000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr14:70083400-70087200	Enhancers	Stomach Smooth Muscle	stomach
32	chr14:70083400-70087400	Enhancers	HSMMtube	muscle
33	chr14:70083400-70087800	Enhancers	Rectal Smooth Muscle	rectum
34	chr14:70083400-70088200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr14:70083400-70089000	Enhancers	HMEC	breast
36	chr14:70083400-70089200	Enhancers	Primary neutrophils fromperipheralblood	blood
37	chr14:70083400-70089600	Enhancers	K562	blood
38	chr14:70083400-70090000	Weak transcription	HUVEC	blood vessel
39	chr14:70083400-70091800	Enhancers	Primary T helper naive cells from peripheral blood	blood
40	chr14:70083400-70092000	Weak transcription	Fetal Stomach	stomach
41	chr14:70083400-70093400	Enhancers	Brain Hippocampus Middle	brain
42	chr14:70083400-70095200	Weak transcription	Fetal Intestine Large	intestine
43	chr14:70083400-70097800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr14:70083800-70089000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
45	chr14:70083800-70092000	Weak transcription	Colonic Mucosa	Colon
46	chr14:70083800-70092000	Weak transcription	HSMM	muscle
47	chr14:70084000-70087200	Weak transcription	Fetal Heart	heart
48	chr14:70084000-70088000	Enhancers	Osteobl	bone
49	chr14:70084000-70088600	Enhancers	Fetal Thymus	thymus
50	chr14:70084000-70091800	Weak transcription	Muscle Satellite Cultured Cells	--

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