Variant report

Variant	rs73344073
Chromosome Location	chr14:81398841-81398842
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:81397350..81398918-chr14:81404330..81405953,2	MCF-7	breast:
2	chr14:81396675..81399080-chr14:81400094..81402837,4	K562	blood:
3	chr14:81397911..81402411-chr14:81683829..81688491,5	K562	blood:
4	chr14:81396050..81399080-chr14:81399956..81402754,3	K562	blood:

Variant related genes	Relation type
ENSG00000100629	Chromatin interaction
ENSG00000165417	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs58040173	1.00[AMR][1000 genomes]
rs58133007	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58679489	1.00[AMR][1000 genomes]
rs60977678	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73334006	1.00[AMR][1000 genomes]
rs73338189	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73338199	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73338226	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73338235	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73338237	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73338251	1.00[AMR][1000 genomes]
rs73340105	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73340175	1.00[AMR][1000 genomes]
rs73340517	1.00[AMR][1000 genomes]
rs73340530	1.00[AMR][1000 genomes]
rs73342195	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73342506	1.00[AMR][1000 genomes]
rs73342522	1.00[AMR][1000 genomes]
rs73342549	1.00[AMR][1000 genomes]
rs73342554	1.00[AMR][1000 genomes]
rs73344031	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73344062	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73344072	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73344075	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73344078	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73344096	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73346054	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73347926	1.00[AMR][1000 genomes]
rs73347935	1.00[AMR][1000 genomes]
rs73347938	1.00[AMR][1000 genomes]
rs73347947	1.00[AMR][1000 genomes]
rs73347973	1.00[AMR][1000 genomes]
rs73349964	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869348	chr14:80921098-81535754	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv832840	chr14:81270033-81423583	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a
3	esv2761847	chr14:81392124-81453137	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:81359400-81406000	Weak transcription	A549	lung
2	chr14:81359800-81407200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr14:81375400-81407600	Weak transcription	Gastric	stomach
4	chr14:81379400-81407400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr14:81382600-81406400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr14:81387800-81407200	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr14:81390000-81405000	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr14:81390000-81407200	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr14:81392200-81407200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr14:81392400-81406600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr14:81392600-81407200	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr14:81392600-81407200	Weak transcription	Fetal Stomach	stomach
13	chr14:81392800-81407400	Weak transcription	Esophagus	oesophagus
14	chr14:81393000-81407600	Weak transcription	Lung	lung
15	chr14:81393600-81399400	Weak transcription	Right Atrium	heart
16	chr14:81393600-81407200	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr14:81394000-81407400	Weak transcription	Left Ventricle	heart
18	chr14:81395000-81407400	Weak transcription	Fetal Intestine Large	intestine
19	chr14:81395800-81399400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
20	chr14:81396000-81399800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr14:81396000-81401000	Enhancers	Primary monocytes fromperipheralblood	blood
22	chr14:81396200-81399000	Enhancers	Primary hematopoietic stem cells short term culture	blood
23	chr14:81396400-81399000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr14:81396400-81407600	Weak transcription	Aorta	Aorta
25	chr14:81397200-81399400	Weak transcription	Spleen	Spleen
26	chr14:81397400-81399000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
27	chr14:81397400-81407200	Weak transcription	Ovary	ovary
28	chr14:81397600-81400000	Enhancers	Primary hematopoietic stem cells	blood
29	chr14:81397800-81399000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
30	chr14:81397800-81400600	Enhancers	Primary neutrophils fromperipheralblood	blood
31	chr14:81398000-81399000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr14:81398000-81399400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr14:81398000-81399400	Weak transcription	Fetal Heart	heart
34	chr14:81398000-81400600	Enhancers	Monocytes-CD14+_RO01746	blood
35	chr14:81398000-81407200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr14:81398000-81407200	Weak transcription	Duodenum Mucosa	Duodenum
37	chr14:81398000-81407200	Weak transcription	Duodenum Smooth Muscle	Duodenum
38	chr14:81398200-81399000	Enhancers	NHEK	skin
39	chr14:81398200-81399200	Genic enhancers	HSMM	muscle
40	chr14:81398200-81399600	Enhancers	Muscle Satellite Cultured Cells	--
41	chr14:81398200-81399800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr14:81398200-81406600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr14:81398200-81407000	Weak transcription	Primary T cells from cord blood	blood
44	chr14:81398200-81407200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
45	chr14:81398200-81407400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
46	chr14:81398400-81400000	Enhancers	K562	blood
47	chr14:81398400-81406000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr14:81398400-81406800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr14:81398600-81399000	Enhancers	GM12878-XiMat	blood
50	chr14:81398600-81399200	Weak transcription	Thymus	Thymus

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