Variant report

Variant	rs6575985
Chromosome Location	chr14:103883063-103883064
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	chr14:103876768..103879568-chr14:103882112..103883749,2	MCF-7	breast:
2	chr14:103799657..103801289-chr14:103882797..103884617,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000100664	Chromatin interaction
ENSG00000244691	Chromatin interaction

Extended variants
information (count: 87 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:83)

rs_ID	r²[population]
rs10144051	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10148970	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10162425	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1107070	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11160751	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1116095	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1138400	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11620897	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11627446	0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12431617	0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12432803	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12435516	0.80[AFR][1000 genomes];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12436729	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12436759	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12436956	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12588272	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12878548	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12882393	0.81[ASN][1000 genomes]
rs12894652	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17101620	0.82[ASN][1000 genomes]
rs17841064	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2023395	0.84[EUR][1000 genomes]
rs2273701	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2273702	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2403174	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2403192	0.84[EUR][1000 genomes]
rs2756122	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2756128	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2756132	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2756135	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2765046	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2765049	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2765051	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs34251103	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34411783	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34831235	0.80[AFR][1000 genomes];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35233301	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35374941	0.82[ASN][1000 genomes]
rs35410438	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35512556	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3759575	0.86[ASN][1000 genomes]
rs3759577	0.86[ASN][1000 genomes]
rs3783399	0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4143998	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4243738	0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4243739	0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4900573	0.83[ASN][1000 genomes]
rs4900580	0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4906320	0.80[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4906322	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4906324	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4906329	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs55658071	0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs55742283	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs57344120	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs60235428	0.80[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6575982	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6575986	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6575988	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6575991	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7140647	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7144010	0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7144271	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7145753	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7146215	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7147640	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7147664	0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7148567	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7148614	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7149767	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7156036	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7156471	0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7159668	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7160888	0.83[ASN][1000 genomes]
rs8003740	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8010247	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8014013	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8014800	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8015429	0.80[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8016676	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8018400	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9671414	0.83[EUR][1000 genomes]
rs975892	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[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
rs6575985	BAG5	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:125 , 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	chr14:103866600-103883400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr14:103868400-103883200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr14:103868400-103883800	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr14:103868600-103883200	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr14:103870800-103883200	Weak transcription	Primary hematopoietic stem cells	blood
7	chr14:103870800-103883200	Weak transcription	HSMMtube	muscle
8	chr14:103871000-103883200	Weak transcription	Aorta	Aorta
9	chr14:103871000-103883600	Strong transcription	Dnd41	blood
10	chr14:103871000-103884400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr14:103871600-103883200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr14:103871600-103883400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
13	chr14:103872000-103883200	Strong transcription	Primary T helper cells fromperipheralblood	blood
14	chr14:103872200-103883800	Strong transcription	Primary B cells from peripheral blood	blood
15	chr14:103874600-103884200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
16	chr14:103874600-103900800	Weak transcription	Rectal Smooth Muscle	rectum
17	chr14:103875200-103888200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr14:103875200-103889200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr14:103875200-103893600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr14:103875400-103883200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr14:103875400-103883200	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr14:103875400-103883600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
23	chr14:103875400-103884200	Weak transcription	Psoas Muscle	Psoas
24	chr14:103875400-103884600	Weak transcription	Small Intestine	intestine
25	chr14:103875400-103887400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
26	chr14:103875400-103888600	Weak transcription	Gastric	stomach
27	chr14:103875400-103889600	Weak transcription	Colon Smooth Muscle	Colon
28	chr14:103875400-103892200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
29	chr14:103875400-103893600	Weak transcription	Brain Germinal Matrix	brain
30	chr14:103875600-103883400	Weak transcription	Stomach Mucosa	stomach
31	chr14:103875600-103884600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
32	chr14:103875600-103893800	Weak transcription	Fetal Heart	heart
33	chr14:103875600-103894000	Weak transcription	Fetal Brain Male	brain
34	chr14:103875800-103889800	Weak transcription	Lung	lung
35	chr14:103876600-103883400	Strong transcription	Fetal Thymus	thymus
36	chr14:103876800-103887800	Weak transcription	Pancreas	Pancrea
37	chr14:103877400-103883400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr14:103877800-103883400	Strong transcription	Primary T cells fromperipheralblood	blood
39	chr14:103878200-103883200	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr14:103879000-103883200	Weak transcription	HUES6 Cell Line	embryonic stem cell
41	chr14:103879000-103883200	Weak transcription	Skeletal Muscle Male	skeletal muscle
42	chr14:103879000-103883200	Weak transcription	K562	blood
43	chr14:103879000-103883800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
44	chr14:103879000-103892800	Weak transcription	Spleen	Spleen
45	chr14:103879000-103895200	Weak transcription	Duodenum Mucosa	Duodenum
46	chr14:103879000-103914200	Weak transcription	Esophagus	oesophagus
47	chr14:103879000-103941400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr14:103879200-103883200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr14:103879200-103883200	Weak transcription	NHLF	lung
50	chr14:103879200-103883400	Weak transcription	GM12878-XiMat	blood

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