Variant report

Variant	rs8017038
Chromosome Location	chr14:81397574-81397575
allele	G/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	chr14:81396050..81399080-chr14:81399956..81402754,3	K562	blood:

Variant related genes	Relation type
ENSG00000100629	Chromatin interaction

Extended variants
information (count: 71 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:68)

rs_ID	r²[population]
rs10135084	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10142753	0.82[ASN][1000 genomes]
rs1016699	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11627934	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1197467	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1197473	0.86[EUR][1000 genomes]
rs1197474	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12050342	0.81[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs12050416	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12433134	0.80[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12434318	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs162174	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs170595	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17615020	0.82[ASN][1000 genomes]
rs1797671	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1863765	0.82[ASN][1000 genomes]
rs2010847	0.82[ASN][1000 genomes]
rs228109	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs228119	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs228124	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2371421	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2371456	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2556604	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2556607	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2556613	0.82[ASN][1000 genomes]
rs2556615	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2619661	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28850656	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2888032	0.81[ASN][1000 genomes]
rs327426	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs327431	0.83[EUR][1000 genomes]
rs327434	0.83[EUR][1000 genomes]
rs327451	0.82[ASN][1000 genomes]
rs327452	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs327454	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs328206	0.83[EUR][1000 genomes]
rs328212	0.82[EUR][1000 genomes]
rs328213	0.83[EUR][1000 genomes]
rs4899779	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4899780	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4899781	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4903944	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4903947	0.83[ASN][1000 genomes]
rs4903949	0.84[ASN][1000 genomes]
rs6574606	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6574608	0.82[ASN][1000 genomes]
rs6574609	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6574610	0.82[ASN][1000 genomes]
rs6574611	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7140452	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7147306	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7156306	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7156572	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7157845	0.81[ASN][1000 genomes]
rs7158936	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs722906	0.82[ASN][1000 genomes]
rs72693011	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72693013	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7493314	0.81[ASN][1000 genomes]
rs759918	0.85[ASN][1000 genomes]
rs759919	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs768359	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8008366	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8009508	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8010491	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8016507	0.81[ASN][1000 genomes]
rs9323694	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9671671	0.86[EUR][1000 genomes];0.82[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:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:81351400-81398400	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr14:81359400-81406000	Weak transcription	A549	lung
3	chr14:81359800-81407200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr14:81375400-81407600	Weak transcription	Gastric	stomach
5	chr14:81379400-81407400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr14:81382600-81406400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr14:81387800-81407200	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr14:81390000-81405000	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr14:81390000-81407200	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr14:81392200-81407200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr14:81392400-81406600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr14:81392600-81407200	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr14:81392600-81407200	Weak transcription	Fetal Stomach	stomach
14	chr14:81392800-81407400	Weak transcription	Esophagus	oesophagus
15	chr14:81393000-81407600	Weak transcription	Lung	lung
16	chr14:81393600-81399400	Weak transcription	Right Atrium	heart
17	chr14:81393600-81407200	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr14:81394000-81407400	Weak transcription	Left Ventricle	heart
19	chr14:81395000-81407400	Weak transcription	Fetal Intestine Large	intestine
20	chr14:81395800-81399400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
21	chr14:81396000-81398600	Enhancers	Primary T helper naive cells from peripheral blood	blood
22	chr14:81396000-81398600	Enhancers	Primary T killer memory cells from peripheral blood	blood
23	chr14:81396000-81399800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr14:81396000-81401000	Enhancers	Primary monocytes fromperipheralblood	blood
25	chr14:81396200-81398000	Enhancers	K562	blood
26	chr14:81396200-81398200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
27	chr14:81396200-81398400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
28	chr14:81396200-81398600	Enhancers	Primary B cells from peripheral blood	blood
29	chr14:81396200-81398600	Enhancers	Primary T helper cells fromperipheralblood	blood
30	chr14:81396200-81398600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
31	chr14:81396200-81399000	Enhancers	Primary hematopoietic stem cells short term culture	blood
32	chr14:81396400-81398000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
33	chr14:81396400-81399000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr14:81396400-81407600	Weak transcription	Aorta	Aorta
35	chr14:81396600-81398400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr14:81396600-81398600	Flanking Active TSS	Dnd41	blood
37	chr14:81396800-81397600	Flanking Active TSS	Primary hematopoietic stem cells	blood
38	chr14:81396800-81397800	Weak transcription	Fetal Brain Female	brain
39	chr14:81396800-81398600	Genic enhancers	Fetal Thymus	thymus
40	chr14:81397000-81397800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
41	chr14:81397000-81397800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
42	chr14:81397000-81397800	Enhancers	NHLF	lung
43	chr14:81397000-81398000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
44	chr14:81397000-81398000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr14:81397000-81398000	Enhancers	Hela-S3	cervix
46	chr14:81397000-81398000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
47	chr14:81397000-81398200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
48	chr14:81397000-81398200	Flanking Active TSS	GM12878-XiMat	blood
49	chr14:81397200-81397600	Enhancers	ES-I3 Cell Line	embryonic stem cell
50	chr14:81397200-81397600	Active TSS	Rectal Mucosa Donor 29	rectum

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