Variant report

Variant	rs73290285
Chromosome Location	chr14:68763122-68763123
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:68762972..68765914-chr14:69258149..69260170,3	MCF-7	breast:
2	chr14:68550358..68553138-chr14:68762603..68764718,2	MCF-7	breast:
3	chr14:68750225..68753988-chr14:68760767..68763895,3	K562	blood:
4	chr14:68762626..68765415-chr14:69260275..69262660,2	MCF-7	breast:
5	chr14:68729921..68731591-chr14:68760748..68763358,2	MCF-7	breast:
6	chr14:68760897..68764007-chr14:68767297..68769142,3	K562	blood:
7	chr14:68762186..68763785-chr14:68835933..68838627,2	K562	blood:

Variant related genes	Relation type
ENSG00000185650	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs12432997	0.87[AFR][1000 genomes]
rs34334823	0.87[AFR][1000 genomes]
rs34518413	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35314249	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58616347	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58773728	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60900258	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61501912	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73272205	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73272216	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73272218	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73272221	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73272225	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs73272271	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73272283	0.87[AFR][1000 genomes]
rs74061613	0.87[AFR][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	nsv428628	chr14:68674504-68835127	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:68746600-68764600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr14:68752400-68765000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr14:68752400-68768800	Weak transcription	Aorta	Aorta
4	chr14:68752600-68763800	Weak transcription	Stomach Smooth Muscle	stomach
5	chr14:68753400-68768800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr14:68753600-68768600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr14:68753600-68768800	Weak transcription	Dnd41	blood
8	chr14:68756400-68763400	Enhancers	Primary B cells from peripheral blood	blood
9	chr14:68756600-68765200	Enhancers	Fetal Intestine Small	intestine
10	chr14:68757800-68765200	Enhancers	Fetal Intestine Large	intestine
11	chr14:68758200-68765600	Enhancers	Primary T cells from cord blood	blood
12	chr14:68758400-68763600	Enhancers	Colon Smooth Muscle	Colon
13	chr14:68758400-68765600	Enhancers	Fetal Kidney	kidney
14	chr14:68758400-68765600	Enhancers	Fetal Muscle Leg	muscle
15	chr14:68758600-68765200	Enhancers	Fetal Lung	lung
16	chr14:68759000-68768400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr14:68759600-68763400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr14:68760000-68768800	Weak transcription	Thymus	Thymus
19	chr14:68760200-68763600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr14:68760400-68768800	Weak transcription	Primary hematopoietic stem cells	blood
21	chr14:68760400-68776800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr14:68760600-68763200	Weak transcription	Adipose Nuclei	Adipose
23	chr14:68760600-68763400	Enhancers	Fetal Heart	heart
24	chr14:68760600-68764800	Weak transcription	HUVEC	blood vessel
25	chr14:68760600-68765000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr14:68760600-68768400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
27	chr14:68760600-68768600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr14:68760600-68773600	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr14:68761000-68765200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
30	chr14:68761000-68767600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr14:68761200-68763400	Enhancers	Pancreas	Pancrea
32	chr14:68761200-68765200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
33	chr14:68761400-68765200	Enhancers	Ovary	ovary
34	chr14:68761600-68763400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr14:68761600-68763400	Enhancers	Placenta	Placenta
36	chr14:68761600-68763400	Enhancers	Fetal Thymus	thymus
37	chr14:68761600-68763400	Enhancers	Skeletal Muscle Male	skeletal muscle
38	chr14:68761600-68763400	Enhancers	Skeletal Muscle Female	skeletal muscle
39	chr14:68761600-68765600	Enhancers	Fetal Stomach	stomach
40	chr14:68761800-68763600	Enhancers	Psoas Muscle	Psoas
41	chr14:68762000-68763800	Weak transcription	Rectal Mucosa Donor 29	rectum
42	chr14:68762000-68773400	Weak transcription	Small Intestine	intestine
43	chr14:68762200-68764000	Enhancers	K562	blood
44	chr14:68762200-68764200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr14:68762200-68764600	Weak transcription	HUES48 Cell Line	embryonic stem cell
46	chr14:68762400-68763400	Weak transcription	Colonic Mucosa	Colon
47	chr14:68762400-68764600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
48	chr14:68762400-68764800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr14:68762400-68764800	Weak transcription	Stomach Mucosa	stomach
50	chr14:68762400-68767400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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