Variant report

Variant	rs6575991
Chromosome Location	chr14:103908433-103908434
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:103907322..103911578-chr14:103912398..103914942,4	K562	blood:
2	chr14:103853355..103855747-chr14:103907911..103909590,2	K562	blood:
3	chr14:103902234..103904874-chr14:103907448..103909098,2	K562	blood:
4	chr14:103900219..103903734-chr14:103907448..103910788,3	K562	blood:
5	chr14:103908000..103910006-chr14:103912078..103913717,2	MCF-7	breast:

Extended variants
information (count: 88 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10144051	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10148970	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10151483	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10162425	0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1107070	0.84[AFR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11160751	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1116095	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1138400	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11620897	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11627446	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12431617	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12432803	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12435516	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12436729	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12436759	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12436956	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12588272	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12878548	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12882393	0.86[ASN][1000 genomes]
rs12894652	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17101620	0.87[ASN][1000 genomes]
rs17841064	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2023395	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2273701	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2273702	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2403174	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2403192	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2756118	0.83[ASN][1000 genomes]
rs2756122	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2756128	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2756132	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2756135	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2765042	0.83[ASN][1000 genomes]
rs2765046	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2765049	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2765051	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34251103	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34411783	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34831235	0.87[AFR][1000 genomes];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35233301	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35374941	0.87[ASN][1000 genomes]
rs35410438	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35512556	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3759575	0.81[ASN][1000 genomes]
rs3759577	0.81[ASN][1000 genomes]
rs3783399	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4143998	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4243738	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4243739	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4900580	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4906320	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4906322	0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4906324	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4906329	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs55658071	0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs55742283	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs57344120	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs60235428	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6575982	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6575985	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6575986	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6575988	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7140647	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7144010	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7144271	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7145753	0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7146215	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7147640	0.87[AMR][1000 genomes]
rs7147664	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7148567	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7148614	0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7149767	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7156036	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7156471	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7159668	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8003740	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8010247	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8014013	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8014800	0.94[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8015429	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8016676	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8018400	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9671414	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs975892	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1049747	chr14:103126148-103955984	Weak transcription Enhancers Bivalent/Poised TSS Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	113 gene(s)	inside rSNPs	diseases
2	nsv534254	chr14:103470073-104023906	Bivalent Enhancer Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	125 gene(s)	inside rSNPs	diseases
3	nsv9168	chr14:103531729-103913306	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
4	esv3332028	chr14:103581471-104328811	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	162 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6575991	BAG5	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:103862000-103919400	Weak transcription	Colonic Mucosa	Colon
2	chr14:103879000-103914200	Weak transcription	Esophagus	oesophagus
3	chr14:103879000-103941400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr14:103889400-103917800	Weak transcription	Gastric	stomach
5	chr14:103890000-103922400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr14:103890200-103914200	Weak transcription	Lung	lung
7	chr14:103894400-103911400	Weak transcription	Pancreas	Pancrea
8	chr14:103894400-103911600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
9	chr14:103894600-103911400	Weak transcription	Brain Angular Gyrus	brain
10	chr14:103894600-103911600	Weak transcription	Fetal Brain Female	brain
11	chr14:103894600-103922400	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr14:103894600-103927400	Weak transcription	Hela-S3	cervix
13	chr14:103895600-103911400	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr14:103895800-103911200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr14:103895800-103911200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr14:103895800-103917800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr14:103896000-103909800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
18	chr14:103896000-103911200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr14:103896000-103911400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
20	chr14:103896000-103911400	Weak transcription	Brain Cingulate Gyrus	brain
21	chr14:103896000-103911400	Weak transcription	Ovary	ovary
22	chr14:103896000-103916600	Weak transcription	Small Intestine	intestine
23	chr14:103896000-103922400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
24	chr14:103896000-103922600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
25	chr14:103896200-103909800	Weak transcription	Primary T helper cells PMA-I stimulated	--
26	chr14:103896200-103911400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr14:103896400-103917800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr14:103897400-103911200	Weak transcription	HUES64 Cell Line	embryonic stem cell
29	chr14:103899200-103934400	Weak transcription	Placenta Amnion	Placenta Amnion
30	chr14:103899400-103911400	Weak transcription	Brain Anterior Caudate	brain
31	chr14:103900800-103918600	Weak transcription	Primary hematopoietic stem cells	blood
32	chr14:103901000-103908800	Weak transcription	HSMMtube	muscle
33	chr14:103901000-103911400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr14:103901000-103914400	Weak transcription	Spleen	Spleen
35	chr14:103901000-103917800	Weak transcription	Thymus	Thymus
36	chr14:103901200-103918400	Weak transcription	Primary neutrophils fromperipheralblood	blood
37	chr14:103901400-103908800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr14:103901400-103909600	Weak transcription	HSMM	muscle
39	chr14:103901400-103911600	Weak transcription	Brain Substantia Nigra	brain
40	chr14:103901400-103914600	Weak transcription	Aorta	Aorta
41	chr14:103901400-103917800	Weak transcription	Placenta	Placenta
42	chr14:103901600-103909600	Weak transcription	K562	blood
43	chr14:103901600-103911400	Weak transcription	Brain Inferior Temporal Lobe	brain
44	chr14:103901600-103911600	Weak transcription	Colon Smooth Muscle	Colon
45	chr14:103901600-103911600	Weak transcription	Right Ventricle	heart
46	chr14:103901600-103911600	Weak transcription	Skeletal Muscle Female	skeletal muscle
47	chr14:103901600-103912000	Weak transcription	Rectal Smooth Muscle	rectum
48	chr14:103901600-103912000	Weak transcription	NH-A	brain
49	chr14:103901600-103913800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr14:103901600-103920000	Weak transcription	Sigmoid Colon	Sigmoid Colon

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