Variant report

Variant	rs8003193
Chromosome Location	chr14:81398506-81398507
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
ENSG00000165417	Chromatin interaction
ENSG00000100629	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10132220	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1013890	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs10140915	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10150391	1.00[ASN][1000 genomes]
rs10151557	0.93[ASN][1000 genomes]
rs1025252	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12100564	0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12101029	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12878167	0.98[AFR][1000 genomes]
rs17615156	0.93[ASN][1000 genomes]
rs2217175	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs28455637	0.94[AMR][1000 genomes]
rs28787628	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56757452	0.97[AFR][1000 genomes]
rs56991751	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs57742095	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs60659347	0.86[ASN][1000 genomes]
rs7144634	0.93[ASN][1000 genomes]
rs7160694	1.00[ASN][1000 genomes]
rs73340189	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73340195	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73340197	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73340199	0.86[ASN][1000 genomes]
rs73342124	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73342126	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73342192	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73344010	0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73344013	0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8021757	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][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:63 , 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	chr14:81396000-81398600	Enhancers	Primary T helper naive cells from peripheral blood	blood
21	chr14:81396000-81398600	Enhancers	Primary T killer memory cells from peripheral blood	blood
22	chr14:81396000-81399800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr14:81396000-81401000	Enhancers	Primary monocytes fromperipheralblood	blood
24	chr14:81396200-81398600	Enhancers	Primary B cells from peripheral blood	blood
25	chr14:81396200-81398600	Enhancers	Primary T helper cells fromperipheralblood	blood
26	chr14:81396200-81398600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
27	chr14:81396200-81399000	Enhancers	Primary hematopoietic stem cells short term culture	blood
28	chr14:81396400-81399000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr14:81396400-81407600	Weak transcription	Aorta	Aorta
30	chr14:81396600-81398600	Flanking Active TSS	Dnd41	blood
31	chr14:81396800-81398600	Genic enhancers	Fetal Thymus	thymus
32	chr14:81397200-81399400	Weak transcription	Spleen	Spleen
33	chr14:81397400-81399000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
34	chr14:81397400-81407200	Weak transcription	Ovary	ovary
35	chr14:81397600-81398600	Enhancers	Thymus	Thymus
36	chr14:81397600-81400000	Enhancers	Primary hematopoietic stem cells	blood
37	chr14:81397800-81398800	Enhancers	Primary B cells from cord blood	blood
38	chr14:81397800-81399000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
39	chr14:81397800-81400600	Enhancers	Primary neutrophils fromperipheralblood	blood
40	chr14:81398000-81398600	Enhancers	Primary T helper cells PMA-I stimulated	--
41	chr14:81398000-81398800	Enhancers	HMEC	breast
42	chr14:81398000-81398800	Enhancers	HSMMtube	muscle
43	chr14:81398000-81399000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr14:81398000-81399400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr14:81398000-81399400	Weak transcription	Fetal Heart	heart
46	chr14:81398000-81400600	Enhancers	Monocytes-CD14+_RO01746	blood
47	chr14:81398000-81407200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr14:81398000-81407200	Weak transcription	Duodenum Mucosa	Duodenum
49	chr14:81398000-81407200	Weak transcription	Duodenum Smooth Muscle	Duodenum
50	chr14:81398200-81398800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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