Variant report

Variant	rs73288047
Chromosome Location	chr14:68626955-68626956
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:68624965..68627608-chr14:68656572..68658244,2	MCF-7	breast:
2	chr14:68604526..68606535-chr14:68626039..68628332,2	MCF-7	breast:
3	chr14:68619639..68622771-chr14:68624194..68627478,3	MCF-7	breast:

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs34144798	1.00[AMR][1000 genomes]
rs34777538	1.00[AMR][1000 genomes]
rs35050678	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4902572	1.00[AMR][1000 genomes]
rs56801190	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56933151	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57556822	1.00[AMR][1000 genomes]
rs57745459	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57826383	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57955495	1.00[AMR][1000 genomes]
rs58407913	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60271256	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60491097	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61166822	1.00[AMR][1000 genomes]
rs61169935	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61290854	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61512918	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73274116	1.00[AMR][1000 genomes]
rs73274136	1.00[AMR][1000 genomes]
rs73274156	1.00[AMR][1000 genomes]
rs73274164	1.00[AMR][1000 genomes]
rs73282473	0.90[AFR][1000 genomes]
rs73282490	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73282491	1.00[AMR][1000 genomes]
rs73284247	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73284265	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73284273	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73284295	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73286262	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73286263	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73286265	1.00[AMR][1000 genomes]
rs73286273	1.00[AMR][1000 genomes]
rs73286279	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73286288	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73288023	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73288038	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73288065	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73288068	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73288074	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74058874	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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
2	nsv1048794	chr14:68614152-68649231	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:68612600-68628000	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr14:68613000-68631200	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr14:68620800-68627000	Weak transcription	Psoas Muscle	Psoas
4	chr14:68621200-68630000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr14:68621400-68628200	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr14:68621400-68631000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr14:68623000-68627400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr14:68623000-68630600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr14:68623000-68631000	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr14:68623200-68627000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr14:68623200-68627400	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr14:68623200-68627400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr14:68624000-68630400	Weak transcription	Ovary	ovary
14	chr14:68624800-68628000	Enhancers	A549	lung
15	chr14:68625000-68627600	Weak transcription	Stomach Mucosa	stomach
16	chr14:68625000-68629600	Weak transcription	Fetal Intestine Small	intestine
17	chr14:68625000-68631200	Weak transcription	Fetal Muscle Leg	muscle
18	chr14:68625000-68635600	Weak transcription	HSMM	muscle
19	chr14:68625200-68627000	Weak transcription	Fetal Lung	lung
20	chr14:68625200-68627600	Weak transcription	Osteobl	bone
21	chr14:68625200-68631200	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr14:68625200-68631200	Weak transcription	Stomach Smooth Muscle	stomach
23	chr14:68625200-68635000	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr14:68625200-68636800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr14:68625400-68629600	Weak transcription	Fetal Intestine Large	intestine
26	chr14:68625600-68627000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr14:68625600-68627000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr14:68625600-68627000	Weak transcription	Rectal Smooth Muscle	rectum
29	chr14:68625600-68627000	Weak transcription	Hela-S3	cervix
30	chr14:68625600-68627400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr14:68625600-68628200	Weak transcription	Liver	Liver
32	chr14:68625600-68630800	Weak transcription	HepG2	liver
33	chr14:68625600-68631200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr14:68625800-68627000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
35	chr14:68625800-68627000	Weak transcription	Adipose Nuclei	Adipose
36	chr14:68625800-68631200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr14:68626400-68627600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr14:68626400-68628200	Enhancers	Colon Smooth Muscle	Colon
39	chr14:68626600-68627200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr14:68626600-68627200	Enhancers	Fetal Stomach	stomach
41	chr14:68626600-68627200	Enhancers	NHEK	skin
42	chr14:68626600-68627400	Enhancers	Pancreatic Islets	Pancreatic Islet
43	chr14:68626600-68628200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr14:68626800-68627200	Enhancers	HMEC	breast
45	chr14:68626800-68628000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr14:68626800-68629000	Enhancers	HUES48 Cell Line	embryonic stem cell
47	chr14:68626800-68629600	Weak transcription	Fetal Kidney	kidney

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