Variant report

Variant	rs73282439
Chromosome Location	chr14:68411315-68411316
allele	C/T
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:25)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:25 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:68411140..68412950-chr14:68548883..68551088,2	MCF-7	breast:
2	chr14:68405383..68414524-chr14:68603693..68608960,22	MCF-7	breast:
3	chr14:68410124..68413051-chr14:68932315..68935332,3	MCF-7	breast:
4	chr14:68409323..68412497-chr14:68713379..68716018,3	MCF-7	breast:
5	chr14:68405207..68413374-chr14:68603625..68613921,22	MCF-7	breast:
6	chr14:68406185..68411686-chr14:68720403..68727836,10	MCF-7	breast:
7	chr14:68404777..68407278-chr14:68408888..68411874,2	K562	blood:
8	chr14:68403008..68415592-chr14:69254956..69264690,41	MCF-7	breast:
9	chr14:68411232..68412136-chr14:68686246..68686899,2	MCF-7	breast:
10	chr14:68407338..68412061-chr14:68925199..68928533,5	MCF-7	breast:
11	chr14:68409588..68412482-chr14:68706952..68709148,2	MCF-7	breast:
12	chr14:68406192..68411564-chr14:69279428..69286293,11	MCF-7	breast:
13	chr14:68410294..68412470-chr14:68653966..68656061,2	MCF-7	breast:
14	chr14:68405495..68411980-chr14:69250946..69254866,9	MCF-7	breast:
15	chr14:68410049..68412875-chr14:68551981..68554163,2	MCF-7	breast:
16	chr14:68407844..68414968-chr14:68428702..68432615,7	MCF-7	breast:
17	chr14:68406762..68412382-chr14:68425953..68431173,8	MCF-7	breast:
18	chr14:68409488..68412789-chr14:68771965..68776404,3	MCF-7	breast:
19	chr14:68409426..68412262-chr14:69280020..69282868,2	MCF-7	breast:
20	chr14:68404009..68415107-chr14:68656381..68664155,17	MCF-7	breast:
21	chr14:68410663..68413615-chr14:68431263..68433122,2	MCF-7	breast:
22	chr14:68403242..68413680-chr14:69255078..69264293,34	MCF-7	breast:
23	chr14:68407127..68413734-chr14:68709753..68718255,16	MCF-7	breast:
24	chr14:68409262..68413026-chr14:68656289..68660234,5	MCF-7	breast:
25	chr14:68408216..68412729-chr14:68747829..68750873,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000185650	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs11845382	1.00[AMR][1000 genomes]
rs11848730	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11849285	1.00[AMR][1000 genomes]
rs17104815	1.00[AMR][1000 genomes]
rs17104853	0.80[AFR][1000 genomes]
rs34669269	1.00[AMR][1000 genomes]
rs34718860	0.80[AFR][1000 genomes]
rs35288178	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57580062	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59188074	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60381652	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7144079	1.00[AMR][1000 genomes]
rs7151985	1.00[AMR][1000 genomes]
rs7159527	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73280495	1.00[AMR][1000 genomes]
rs73282427	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73282432	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73282441	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73282444	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73282452	0.90[AFR][1000 genomes]
rs73282459	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73282474	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73282477	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73282486	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73282492	0.80[AFR][1000 genomes]
rs73284254	0.85[AFR][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	nsv869154	chr14:68366754-69041768	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:68406800-68411800	Enhancers	Fetal Stomach	stomach
2	chr14:68406800-68412000	Enhancers	Colon Smooth Muscle	Colon
3	chr14:68407000-68411800	Enhancers	Rectal Smooth Muscle	rectum
4	chr14:68407000-68412000	Enhancers	NHLF	lung
5	chr14:68407200-68411800	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr14:68407600-68411600	Enhancers	Pancreatic Islets	Pancreatic Islet
7	chr14:68408400-68411400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr14:68408600-68411400	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr14:68408600-68411400	Weak transcription	Primary hematopoietic stem cells	blood
10	chr14:68408600-68411400	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr14:68408600-68411400	Weak transcription	Small Intestine	intestine
12	chr14:68408600-68411400	Weak transcription	HMEC	breast
13	chr14:68408600-68411800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr14:68408600-68420200	Weak transcription	Ovary	ovary
15	chr14:68408600-68430200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr14:68408600-68435400	Weak transcription	Thymus	Thymus
17	chr14:68409000-68411400	Weak transcription	Fetal Muscle Leg	muscle
18	chr14:68409000-68412000	Enhancers	Cortex derived primary cultured neurospheres	brain
19	chr14:68409200-68411600	Enhancers	Adipose Nuclei	Adipose
20	chr14:68409400-68411400	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr14:68409400-68411400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr14:68409400-68411400	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr14:68409400-68411600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr14:68409400-68411800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr14:68409400-68411800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr14:68409400-68412200	Enhancers	Fetal Lung	lung
27	chr14:68409400-68415800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr14:68409400-68416800	Weak transcription	Aorta	Aorta
29	chr14:68409400-68434200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr14:68409600-68411400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr14:68409600-68411800	Enhancers	Liver	Liver
32	chr14:68409600-68412000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr14:68409600-68412000	Enhancers	NHDF-Ad	bronchial
34	chr14:68409600-68412800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr14:68409600-68430600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr14:68409800-68411400	Enhancers	Duodenum Smooth Muscle	Duodenum
37	chr14:68410000-68411600	Enhancers	ES-I3 Cell Line	embryonic stem cell
38	chr14:68410200-68412000	Enhancers	Rectal Mucosa Donor 29	rectum
39	chr14:68410400-68411400	Enhancers	Brain Substantia Nigra	brain
40	chr14:68410400-68411600	Enhancers	HUES48 Cell Line	embryonic stem cell
41	chr14:68410400-68411600	Enhancers	iPS-18 Cell Line	embryonic stem cell
42	chr14:68410400-68411600	Enhancers	Breast Myoepithelial Primary Cells	Breast
43	chr14:68410400-68411600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr14:68410400-68411600	Enhancers	Brain Hippocampus Middle	brain
45	chr14:68410400-68411600	Enhancers	NHEK	skin
46	chr14:68410400-68411800	Enhancers	HSMM	muscle
47	chr14:68410400-68412000	Enhancers	Fetal Kidney	kidney
48	chr14:68410400-68412000	Enhancers	Stomach Mucosa	stomach
49	chr14:68410800-68411600	Enhancers	HepG2	liver
50	chr14:68410800-68411800	Enhancers	Muscle Satellite Cultured Cells	--

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