Variant report

Variant	rs4899280
Chromosome Location	chr14:69526307-69526308
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:69524611..69527139-chr14:69538352..69541318,2	MCF-7	breast:
2	chr14:69525287..69527543-chr14:69551601..69554143,2	K562	blood:

Extended variants
information (count: 85 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:84)

rs_ID	r²[population]
rs10083451	1.00[CEU][hapmap];1.00[TSI][hapmap];0.82[EUR][1000 genomes]
rs10130013	1.00[CEU][hapmap];0.83[MEX][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10131077	0.81[EUR][1000 genomes]
rs10132533	0.92[CEU][hapmap]
rs10134578	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10135127	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10135643	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10135971	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1013762	1.00[JPT][hapmap]
rs10139873	1.00[CEU][hapmap];1.00[TSI][hapmap];0.82[EUR][1000 genomes]
rs10141040	0.81[EUR][1000 genomes]
rs10143302	1.00[CEU][hapmap];1.00[TSI][hapmap];0.82[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10145565	1.00[CEU][hapmap];0.91[GIH][hapmap];1.00[TSI][hapmap];0.82[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10146339	1.00[CEU][hapmap];0.80[EUR][1000 genomes]
rs10146649	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10147369	1.00[CEU][hapmap];0.83[MEX][hapmap];1.00[TSI][hapmap];0.81[EUR][1000 genomes]
rs10148614	0.90[CEU][hapmap];0.82[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10149232	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs10151376	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10498527	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];0.94[ASN][1000 genomes]
rs1105625	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];0.88[ASN][1000 genomes]
rs11158780	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11158782	1.00[CEU][hapmap];1.00[TSI][hapmap];0.82[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11158784	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs11158785	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs11158786	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap]
rs11158787	1.00[CEU][hapmap];1.00[TSI][hapmap];0.80[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11158789	0.87[ASN][1000 genomes]
rs11158790	1.00[CEU][hapmap];1.00[TSI][hapmap];0.81[EUR][1000 genomes]
rs11158795	0.92[CEU][hapmap];0.86[TSI][hapmap]
rs11158798	0.92[CEU][hapmap]
rs11622889	1.00[CEU][hapmap];1.00[TSI][hapmap];0.81[EUR][1000 genomes]
rs11626985	1.00[JPT][hapmap]
rs11627004	1.00[JPT][hapmap]
rs11627476	1.00[JPT][hapmap]
rs12323738	0.93[EUR][1000 genomes]
rs12431846	1.00[CEU][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12434775	1.00[CEU][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12435594	1.00[CEU][hapmap];1.00[TSI][hapmap];0.80[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12437418	0.82[EUR][1000 genomes]
rs12589028	1.00[CEU][hapmap];1.00[TSI][hapmap];0.82[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1275414	0.81[ASN][1000 genomes]
rs1275417	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs12879406	1.00[CEU][hapmap]
rs12881049	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12885977	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12886715	0.91[CEU][hapmap]
rs12889849	0.92[CEU][hapmap]
rs12891103	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1626122	0.87[ASN][1000 genomes]
rs1629783	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs1710989	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];0.85[YRI][hapmap];0.82[ASN][1000 genomes]
rs1710990	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs1710993	1.00[CHB][hapmap]
rs1892296	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1914004	0.94[CEU][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1950712	1.00[JPT][hapmap]
rs1973677	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2001355	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];0.85[YRI][hapmap];0.81[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs2001998	1.00[CEU][hapmap];1.00[TSI][hapmap];0.95[EUR][1000 genomes]
rs2056153	1.00[CEU][hapmap];1.00[TSI][hapmap];0.82[EUR][1000 genomes]
rs2176255	1.00[JPT][hapmap]
rs2331918	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2331919	0.82[EUR][1000 genomes]
rs28613298	1.00[CEU][hapmap];1.00[TSI][hapmap];0.82[EUR][1000 genomes]
rs3211166	0.87[CEU][hapmap]
rs35538328	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3742905	1.00[JPT][hapmap]
rs4338726	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4902695	1.00[JPT][hapmap]
rs6573869	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs7141235	1.00[CHB][hapmap]
rs7144307	0.88[CEU][hapmap]
rs7144704	1.00[JPT][hapmap]
rs7148045	0.87[CEU][hapmap]
rs7151797	0.85[AMR][1000 genomes]
rs7160629	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs761899	0.82[AMR][1000 genomes]
rs8008141	1.00[JPT][hapmap]
rs8008184	1.00[CEU][hapmap];0.97[TSI][hapmap];0.82[EUR][1000 genomes]
rs8017103	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9323521	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs9323522	0.82[EUR][1000 genomes]
rs9323524	1.00[CEU][hapmap];0.91[GIH][hapmap];0.83[MEX][hapmap];1.00[TSI][hapmap]

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

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4899280	SPTB	cis	cerebellum	SCAN
rs4899280	ZBTB1	cis	parietal	SCAN

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:69516200-69541800	Strong transcription	Primary T cells from cord blood	blood
2	chr14:69517600-69528000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr14:69518000-69533800	Strong transcription	Primary T cells fromperipheralblood	blood
4	chr14:69518400-69557200	Weak transcription	Hela-S3	cervix
5	chr14:69518800-69529200	Strong transcription	Fetal Brain Female	brain
6	chr14:69518800-69529200	Strong transcription	Fetal Stomach	stomach
7	chr14:69518800-69530000	Strong transcription	Duodenum Mucosa	Duodenum
8	chr14:69518800-69530200	Strong transcription	Primary B cells from peripheral blood	blood
9	chr14:69518800-69537000	Strong transcription	Fetal Muscle Trunk	muscle
10	chr14:69519000-69537000	Strong transcription	Primary T helper cells fromperipheralblood	blood
11	chr14:69519000-69537200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
12	chr14:69519200-69528600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr14:69519200-69531000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr14:69519200-69531600	Strong transcription	Fetal Thymus	thymus
15	chr14:69519200-69544600	Weak transcription	Stomach Mucosa	stomach
16	chr14:69519400-69534200	Strong transcription	Primary B cells from cord blood	blood
17	chr14:69519600-69530800	Strong transcription	Rectal Mucosa Donor 31	rectum
18	chr14:69519600-69546000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr14:69519800-69531000	Strong transcription	Fetal Intestine Large	intestine
20	chr14:69519800-69531600	Strong transcription	Primary T helper cells PMA-I stimulated	--
21	chr14:69520000-69534800	Strong transcription	Placenta	Placenta
22	chr14:69520200-69531600	Strong transcription	Sigmoid Colon	Sigmoid Colon
23	chr14:69520200-69531800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr14:69520200-69532200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr14:69521000-69540600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr14:69521400-69526600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
27	chr14:69521400-69530200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
28	chr14:69521800-69528400	Weak transcription	Small Intestine	intestine
29	chr14:69522000-69528000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
30	chr14:69522200-69528000	Weak transcription	Brain Substantia Nigra	brain
31	chr14:69522200-69528400	Weak transcription	Colonic Mucosa	Colon
32	chr14:69522200-69539600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
33	chr14:69522400-69528000	Weak transcription	Fetal Kidney	kidney
34	chr14:69522400-69556400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr14:69522400-69564800	Weak transcription	H9 Cell Line	embryonic stem cell
36	chr14:69522600-69527000	Enhancers	Primary neutrophils fromperipheralblood	blood
37	chr14:69522600-69545600	Weak transcription	Pancreas	Pancrea
38	chr14:69523200-69527800	Weak transcription	K562	blood
39	chr14:69523200-69532200	Strong transcription	Fetal Muscle Leg	muscle
40	chr14:69523400-69535600	Weak transcription	Placenta Amnion	Placenta Amnion
41	chr14:69523400-69535800	Weak transcription	Aorta	Aorta
42	chr14:69523600-69526400	Weak transcription	HUES64 Cell Line	embryonic stem cell
43	chr14:69523600-69527000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr14:69523600-69527400	Weak transcription	Brain Inferior Temporal Lobe	brain
45	chr14:69523600-69527600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
46	chr14:69523600-69528400	Weak transcription	H1 Cell Line	embryonic stem cell
47	chr14:69523600-69529600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr14:69523600-69535400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr14:69523600-69545600	Weak transcription	Right Ventricle	heart
50	chr14:69523600-69550800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell

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