Variant report

Variant	rs6575982
Chromosome Location	chr14:103862681-103862682
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:103861640..103863253-chr14:103866486..103868764,3	MCF-7	breast:
2	chr14:103804940..103815889-chr14:103850459..103863829,28	K562	blood:
3	chr14:103794753..103806137-chr14:103849038..103864103,36	MCF-7	breast:
4	chr14:103797262..103804754-chr14:103849003..103864058,49	MCF-7	breast:
5	chr14:103860462..103863338-chr14:103864074..103867631,4	K562	blood:
6	chr14:103849131..103853013-chr14:103859929..103865676,7	MCF-7	breast:
7	chr14:103857593..103860875-chr14:103861625..103865157,4	MCF-7	breast:
8	chr14:103858689..103864179-chr14:103864270..103870415,8	K562	blood:

No data

Variant related genes	Relation type
ENSG00000272533	Chromatin interaction
ENSG00000075413	Chromatin interaction
ENSG00000100664	Chromatin interaction
ENSG00000259775	Chromatin interaction

Extended variants
information (count: 84 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:79)

rs_ID	r²[population]
rs10144051	0.94[CEU][hapmap];0.86[JPT][hapmap];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10148970	0.94[CEU][hapmap];0.86[JPT][hapmap];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10149470	0.88[JPT][hapmap]
rs10162425	1.00[CEU][hapmap];0.86[JPT][hapmap];0.84[EUR][1000 genomes]
rs1107070	0.94[CEU][hapmap];0.90[CHB][hapmap];0.95[JPT][hapmap]
rs11160751	0.84[EUR][1000 genomes]
rs1116095	0.94[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1138400	0.81[EUR][1000 genomes]
rs11620897	0.87[EUR][1000 genomes]
rs11627446	0.87[EUR][1000 genomes]
rs12431617	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12432803	0.94[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.93[YRI][hapmap];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12435516	0.94[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12436729	0.94[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.93[YRI][hapmap];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12436759	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12436956	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12588272	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12878548	0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs12894652	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17841064	0.94[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2071407	0.82[JPT][hapmap]
rs2273701	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2273702	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2403174	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2756132	0.94[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.92[YRI][hapmap];0.80[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2756135	0.94[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2765051	0.80[CEU][hapmap];0.89[CHB][hapmap];0.95[JPT][hapmap];0.92[YRI][hapmap]
rs34251103	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34411783	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34831235	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35233301	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35410438	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35512556	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3759575	0.92[ASN][1000 genomes]
rs3759577	0.83[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap];0.92[ASN][1000 genomes]
rs4143998	0.89[CEU][hapmap];0.86[JPT][hapmap];0.81[EUR][1000 genomes]
rs4243738	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4243739	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4900573	0.84[ASN][1000 genomes]
rs4906319	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4906320	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4906322	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4906324	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4906329	0.94[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.92[YRI][hapmap];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs55658071	0.87[EUR][1000 genomes]
rs55742283	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs57344120	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs60235428	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6575985	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6575986	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6575988	0.94[CEU][hapmap];0.86[JPT][hapmap];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6575991	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7140647	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7144010	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7144271	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7145753	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7146215	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7147640	0.82[AMR][1000 genomes]
rs7147664	1.00[CEU][hapmap];0.86[JPT][hapmap];0.81[EUR][1000 genomes]
rs7148567	0.94[CEU][hapmap];0.87[JPT][hapmap];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7148614	0.83[EUR][1000 genomes]
rs7149767	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7156036	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7156471	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7159668	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7160888	0.89[ASN][1000 genomes]
rs8003740	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8010247	0.94[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8014013	0.94[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.92[YRI][hapmap];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8014800	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8015429	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs8016676	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8018400	0.94[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8020912	0.83[CEU][hapmap]
rs911552	0.95[JPT][hapmap]
rs911554	0.95[JPT][hapmap]
rs911555	0.95[JPT][hapmap]
rs9671414	0.94[CEU][hapmap];0.86[JPT][hapmap]
rs975892	0.94[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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
5	nsv542200	chr14:103838939-103868007	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6575982	BAG5	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:103853600-103864200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr14:103853800-103864400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr14:103853800-103867400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr14:103854800-103865200	Enhancers	Primary T cells fromperipheralblood	blood
5	chr14:103855000-103868000	Weak transcription	Fetal Stomach	stomach
6	chr14:103855000-103874800	Weak transcription	Fetal Brain Male	brain
7	chr14:103855200-103864200	Weak transcription	Fetal Kidney	kidney
8	chr14:103855200-103865000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr14:103855200-103871800	Weak transcription	Brain Germinal Matrix	brain
10	chr14:103856400-103863200	Enhancers	Primary T helper naive cells from peripheral blood	blood
11	chr14:103856400-103863800	Enhancers	Monocytes-CD14+_RO01746	blood
12	chr14:103856600-103863200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr14:103856600-103863800	Enhancers	Primary T helper cells fromperipheralblood	blood
14	chr14:103856600-103871200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
15	chr14:103856600-103871600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
16	chr14:103856800-103863200	Enhancers	Primary neutrophils fromperipheralblood	blood
17	chr14:103856800-103863400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr14:103857000-103871000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
19	chr14:103857600-103863200	Enhancers	Liver	Liver
20	chr14:103858200-103863200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr14:103858200-103863200	Enhancers	Skeletal Muscle Male	skeletal muscle
22	chr14:103858200-103863200	Enhancers	Skeletal Muscle Female	skeletal muscle
23	chr14:103858400-103863600	Enhancers	Breast Myoepithelial Primary Cells	Breast
24	chr14:103858400-103865000	Enhancers	Pancreas	Pancrea
25	chr14:103858800-103864400	Weak transcription	Gastric	stomach
26	chr14:103858800-103871400	Weak transcription	Fetal Brain Female	brain
27	chr14:103859200-103863200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
28	chr14:103859400-103863000	Enhancers	Hela-S3	cervix
29	chr14:103859400-103863200	Enhancers	Adipose Nuclei	Adipose
30	chr14:103859400-103866000	Enhancers	Primary T killer memory cells from peripheral blood	blood
31	chr14:103859600-103862800	Enhancers	Fetal Heart	heart
32	chr14:103859600-103863200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr14:103859600-103863200	Enhancers	Primary T cells from cord blood	blood
34	chr14:103859600-103863200	Enhancers	Stomach Mucosa	stomach
35	chr14:103859600-103863400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr14:103859600-103863400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
37	chr14:103859600-103863400	Enhancers	Psoas Muscle	Psoas
38	chr14:103859800-103862800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr14:103859800-103863200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
40	chr14:103859800-103863600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
41	chr14:103860000-103863200	Enhancers	A549	lung
42	chr14:103860200-103862800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr14:103860200-103863200	Enhancers	Primary hematopoietic stem cells short term culture	blood
44	chr14:103860400-103863400	Enhancers	Right Atrium	heart
45	chr14:103860400-103866200	Weak transcription	Lung	lung
46	chr14:103860400-103871400	Weak transcription	Fetal Muscle Trunk	muscle
47	chr14:103860600-103863200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr14:103860600-103863200	Enhancers	Brain Anterior Caudate	brain
49	chr14:103860600-103863200	Enhancers	Ovary	ovary
50	chr14:103860800-103867600	Weak transcription	HUES48 Cell Line	embryonic stem cell

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