Variant report

Variant	rs56251680
Chromosome Location	chr14:31468839-31468840
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:31462254..31468952-chr14:31492285..31496312,7	MCF-7	breast:
2	chr14:31453719..31455508-chr14:31466401..31468964,2	MCF-7	breast:
3	chr14:31463269..31470932-chr14:31491620..31497354,8	K562	blood:
4	chr14:31461833..31464355-chr14:31467976..31470646,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AP4S1-3	chr14:31468245-31469103	ncRnaDb_ncrna_FR171143_1

Variant related genes	Relation type
ENSG00000196792	Chromatin interaction
ENSG00000100478	Chromatin interaction

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

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

rs_ID	r²[population]
rs12884979	0.90[EUR][1000 genomes]

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	nsv564169	chr14:30819087-31541494	Strong transcription Genic enhancers ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv901581	chr14:30978745-31585289	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv1035937	chr14:31447842-31579660	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
4	nsv542018	chr14:31447842-31579660	Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Enhancers Genic enhancers 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	22 gene(s)	inside rSNPs	diseases
5	nsv1048736	chr14:31447842-31624912	Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:31442400-31494400	Weak transcription	Gastric	stomach
2	chr14:31443400-31493800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr14:31444000-31472800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr14:31458600-31494000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr14:31461200-31492400	Weak transcription	Fetal Kidney	kidney
6	chr14:31461200-31494400	Weak transcription	Small Intestine	intestine
7	chr14:31461400-31487400	Weak transcription	Right Ventricle	heart
8	chr14:31464200-31493600	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr14:31464400-31492400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr14:31465200-31470000	Weak transcription	Stomach Mucosa	stomach
11	chr14:31465400-31492400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
12	chr14:31465600-31469800	Weak transcription	Fetal Heart	heart
13	chr14:31465600-31470400	Weak transcription	Right Atrium	heart
14	chr14:31465600-31474000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr14:31465600-31474000	Weak transcription	Left Ventricle	heart
16	chr14:31465600-31480400	Weak transcription	Ovary	ovary
17	chr14:31465600-31487400	Weak transcription	Spleen	Spleen
18	chr14:31465800-31469800	Weak transcription	Rectal Smooth Muscle	rectum
19	chr14:31466400-31490000	Weak transcription	NHDF-Ad	bronchial
20	chr14:31466600-31474800	Weak transcription	Esophagus	oesophagus
21	chr14:31466800-31469000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr14:31466800-31469000	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr14:31466800-31469400	ZNF genes & repeats	A549	lung
24	chr14:31466800-31469600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr14:31466800-31470000	Weak transcription	Psoas Muscle	Psoas
26	chr14:31466800-31470600	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr14:31467000-31469000	ZNF genes & repeats	Fetal Muscle Leg	muscle
28	chr14:31467000-31469200	ZNF genes & repeats	Primary B cells from cord blood	blood
29	chr14:31467000-31469200	ZNF genes & repeats	Primary B cells from peripheral blood	blood
30	chr14:31467000-31469200	ZNF genes & repeats	Primary T cells from cord blood	blood
31	chr14:31467000-31469200	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
32	chr14:31467000-31470400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr14:31467000-31470800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr14:31467000-31474800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
35	chr14:31467200-31469000	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr14:31467200-31469000	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
37	chr14:31467200-31469000	Enhancers	NHEK	skin
38	chr14:31467200-31469200	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
39	chr14:31467200-31469400	ZNF genes & repeats	HepG2	liver
40	chr14:31467200-31469400	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
41	chr14:31467200-31469600	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr14:31467200-31469800	Weak transcription	H1 Cell Line	embryonic stem cell
43	chr14:31467200-31470000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
44	chr14:31467200-31471200	Strong transcription	HSMM	muscle
45	chr14:31467400-31469400	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
46	chr14:31467400-31470000	ZNF genes & repeats	Dnd41	blood
47	chr14:31467600-31469800	Weak transcription	HUES48 Cell Line	embryonic stem cell
48	chr14:31467800-31469000	Strong transcription	Muscle Satellite Cultured Cells	--
49	chr14:31467800-31469000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr14:31467800-31469000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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