Variant report

Variant	rs45469294
Chromosome Location	chr14:69557602-69557603
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:69443330..69446418-chr14:69556824..69560512,4	MCF-7	breast:
2	chr14:69329812..69331555-chr14:69556654..69558817,2	MCF-7	breast:
3	chr14:69378046..69379024-chr14:69556365..69557650,5	MCF-7	breast:
4	chr14:69378080..69378935-chr14:69556957..69557925,4	K562	blood:
5	chr14:69377957..69378924-chr14:69556612..69557914,7	MCF-7	breast:
6	chr14:69443630..69446372-chr14:69557045..69560333,4	MCF-7	breast:
7	chr14:69380225..69381955-chr14:69555860..69558470,2	MCF-7	breast:
8	chr14:69555343..69557851-chr14:69619191..69621766,2	K562	blood:
9	chr14:69471670..69474001-chr14:69555320..69558312,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000139990	Chromatin interaction
ENSG00000072110	Chromatin interaction
ENSG00000259062	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs1147478	1.00[ASN][1000 genomes]
rs1147479	1.00[ASN][1000 genomes]
rs1275405	1.00[ASN][1000 genomes]
rs1275408	1.00[ASN][1000 genomes]
rs1275409	1.00[ASN][1000 genomes]
rs1275410	1.00[ASN][1000 genomes]
rs1275411	1.00[ASN][1000 genomes]
rs1275418	1.00[ASN][1000 genomes]
rs1464307	1.00[ASN][1000 genomes]
rs17836065	1.00[ASN][1000 genomes]
rs17836099	1.00[ASN][1000 genomes]
rs1890943	1.00[ASN][1000 genomes]
rs1959759	1.00[ASN][1000 genomes]
rs1965449	1.00[ASN][1000 genomes]
rs2014607	1.00[ASN][1000 genomes]
rs4899284	1.00[ASN][1000 genomes]
rs4899292	1.00[ASN][1000 genomes]
rs4902702	1.00[ASN][1000 genomes]
rs61741172	1.00[ASN][1000 genomes]
rs61981647	1.00[ASN][1000 genomes]
rs61981649	1.00[ASN][1000 genomes]
rs7150127	1.00[ASN][1000 genomes]
rs7151827	1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832823	chr14:69388853-69567638	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:69522400-69564800	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr14:69527000-69558200	Weak transcription	Esophagus	oesophagus
3	chr14:69528600-69560200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr14:69535600-69565200	Strong transcription	Primary T cells fromperipheralblood	blood
5	chr14:69540400-69560600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr14:69541400-69559800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr14:69542600-69570600	Strong transcription	Primary T cells from cord blood	blood
8	chr14:69543000-69559000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr14:69545800-69559000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
10	chr14:69546000-69563200	Strong transcription	Primary T helper cells fromperipheralblood	blood
11	chr14:69546200-69559000	Strong transcription	GM12878-XiMat	blood
12	chr14:69546200-69559200	Strong transcription	Sigmoid Colon	Sigmoid Colon
13	chr14:69546200-69583000	Weak transcription	Psoas Muscle	Psoas
14	chr14:69546400-69558600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr14:69546600-69558800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr14:69546800-69558000	Weak transcription	Small Intestine	intestine
17	chr14:69547200-69557800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr14:69547200-69560400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr14:69547600-69559200	Strong transcription	Fetal Muscle Leg	muscle
20	chr14:69547600-69559400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr14:69547800-69558800	Strong transcription	Left Ventricle	heart
22	chr14:69548000-69558600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr14:69548000-69558800	Strong transcription	Rectal Mucosa Donor 29	rectum
24	chr14:69548000-69560200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr14:69548000-69563000	Strong transcription	Fetal Thymus	thymus
26	chr14:69548000-69563600	Strong transcription	Primary T helper cells PMA-I stimulated	--
27	chr14:69548200-69559200	Strong transcription	Primary B cells from peripheral blood	blood
28	chr14:69548200-69567400	Strong transcription	Monocytes-CD14+_RO01746	blood
29	chr14:69548400-69559400	Strong transcription	Primary monocytes fromperipheralblood	blood
30	chr14:69548600-69560200	Weak transcription	Fetal Heart	heart
31	chr14:69548800-69559800	Weak transcription	A549	lung
32	chr14:69548800-69560200	Weak transcription	Stomach Mucosa	stomach
33	chr14:69549200-69559000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
34	chr14:69549400-69559000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr14:69549600-69558800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr14:69550000-69568000	Weak transcription	Pancreatic Islets	Pancreatic Islet
37	chr14:69550200-69558600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
38	chr14:69550600-69558600	Strong transcription	Primary B cells from cord blood	blood
39	chr14:69550600-69559000	Strong transcription	Primary hematopoietic stem cells	blood
40	chr14:69550600-69559200	Strong transcription	Duodenum Mucosa	Duodenum
41	chr14:69551200-69558800	Strong transcription	Rectal Mucosa Donor 31	rectum
42	chr14:69551600-69558400	Weak transcription	Spleen	Spleen
43	chr14:69551600-69560200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr14:69551800-69557800	Weak transcription	HUES6 Cell Line	embryonic stem cell
45	chr14:69551800-69557800	Weak transcription	Lung	lung
46	chr14:69552000-69558800	Strong transcription	HepG2	liver
47	chr14:69552600-69558800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr14:69552600-69558800	Strong transcription	Thymus	Thymus
49	chr14:69553200-69559000	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr14:69553400-69558000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

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