Variant report

Variant	rs73278952
Chromosome Location	chr14:69558972-69558973
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:69443330..69446418-chr14:69556824..69560512,4	MCF-7	breast:
2	chr14:69443630..69446372-chr14:69557045..69560333,4	MCF-7	breast:
3	chr14:69558940..69562138-chr14:69562200..69566674,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000259062	Chromatin interaction
ENSG00000072110	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs17106764	1.00[AMR][1000 genomes]
rs17106793	1.00[AMR][1000 genomes]
rs56922727	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57103818	1.00[AMR][1000 genomes]
rs58395904	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59157439	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59871527	1.00[AMR][1000 genomes]
rs60643493	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60660183	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7142735	1.00[AMR][1000 genomes]
rs73275510	1.00[AMR][1000 genomes]
rs73275520	1.00[AMR][1000 genomes]
rs73275568	1.00[AMR][1000 genomes]
rs73275583	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73275592	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73275597	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73275598	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73275599	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73275602	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73277010	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73277013	1.00[AMR][1000 genomes]
rs73277015	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73277016	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73277032	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73278958	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73278965	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73278972	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73278980	1.00[AMR][1000 genomes]
rs73278990	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73278996	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73280821	1.00[AMR][1000 genomes]
rs73280853	1.00[AMR][1000 genomes]
rs73280860	1.00[AMR][1000 genomes]
rs73280900	1.00[AMR][1000 genomes]
rs73282607	1.00[AMR][1000 genomes]
rs73282617	1.00[AMR][1000 genomes]
rs8016668	0.83[AFR][1000 genomes];1.00[AMR][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	chr14:69528600-69560200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr14:69535600-69565200	Strong transcription	Primary T cells fromperipheralblood	blood
4	chr14:69540400-69560600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr14:69541400-69559800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr14:69542600-69570600	Strong transcription	Primary T cells from cord blood	blood
7	chr14:69543000-69559000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr14:69545800-69559000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
9	chr14:69546000-69563200	Strong transcription	Primary T helper cells fromperipheralblood	blood
10	chr14:69546200-69559000	Strong transcription	GM12878-XiMat	blood
11	chr14:69546200-69559200	Strong transcription	Sigmoid Colon	Sigmoid Colon
12	chr14:69546200-69583000	Weak transcription	Psoas Muscle	Psoas
13	chr14:69547200-69560400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr14:69547600-69559200	Strong transcription	Fetal Muscle Leg	muscle
15	chr14:69547600-69559400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr14:69548000-69560200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr14:69548000-69563000	Strong transcription	Fetal Thymus	thymus
18	chr14:69548000-69563600	Strong transcription	Primary T helper cells PMA-I stimulated	--
19	chr14:69548200-69559200	Strong transcription	Primary B cells from peripheral blood	blood
20	chr14:69548200-69567400	Strong transcription	Monocytes-CD14+_RO01746	blood
21	chr14:69548400-69559400	Strong transcription	Primary monocytes fromperipheralblood	blood
22	chr14:69548600-69560200	Weak transcription	Fetal Heart	heart
23	chr14:69548800-69559800	Weak transcription	A549	lung
24	chr14:69548800-69560200	Weak transcription	Stomach Mucosa	stomach
25	chr14:69549200-69559000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
26	chr14:69549400-69559000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr14:69550000-69568000	Weak transcription	Pancreatic Islets	Pancreatic Islet
28	chr14:69550600-69559000	Strong transcription	Primary hematopoietic stem cells	blood
29	chr14:69550600-69559200	Strong transcription	Duodenum Mucosa	Duodenum
30	chr14:69551600-69560200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr14:69553200-69559000	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr14:69554200-69560600	Weak transcription	Aorta	Aorta
33	chr14:69554800-69559200	Strong transcription	Liver	Liver
34	chr14:69556200-69559200	Strong transcription	Muscle Satellite Cultured Cells	--
35	chr14:69556200-69559200	Strong transcription	Osteobl	bone
36	chr14:69556400-69559000	Strong transcription	Colonic Mucosa	Colon
37	chr14:69556400-69559200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
38	chr14:69556400-69559200	Strong transcription	Fetal Intestine Large	intestine
39	chr14:69556400-69559400	Strong transcription	Fetal Muscle Trunk	muscle
40	chr14:69557000-69559000	Strong transcription	NHEK	skin
41	chr14:69557400-69559000	Strong transcription	Duodenum Smooth Muscle	Duodenum
42	chr14:69557600-69560000	Strong transcription	Ovary	ovary
43	chr14:69557800-69559400	Strong transcription	Lung	lung
44	chr14:69557800-69559600	Strong transcription	Fetal Intestine Small	intestine
45	chr14:69558000-69559200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
46	chr14:69558000-69559200	Strong transcription	Small Intestine	intestine
47	chr14:69558000-69560400	Weak transcription	Pancreas	Pancrea
48	chr14:69558200-69559200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr14:69558200-69563600	Weak transcription	Fetal Brain Male	brain
50	chr14:69558400-69559800	Weak transcription	HUES64 Cell Line	embryonic stem cell

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