Variant report

Variant	rs7148567
Chromosome Location	chr14:103882234-103882235
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:

Variant related genes	Relation type
ENSG00000244691	Chromatin interaction

Extended variants
information (count: 93 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:89)

rs_ID	r²[population]
rs10141120	0.90[YRI][hapmap]
rs10141388	0.86[YRI][hapmap]
rs10144051	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10148970	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10151483	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10162425	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1107070	1.00[CEU][hapmap];0.83[CHB][hapmap];0.91[JPT][hapmap];0.82[EUR][1000 genomes]
rs11160751	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1116095	1.00[CEU][hapmap];0.91[JPT][hapmap];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1138400	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11620897	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11627446	0.83[AFR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12431617	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12432803	1.00[CEU][hapmap];0.91[JPT][hapmap];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12435516	1.00[CEU][hapmap];0.91[JPT][hapmap];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12436729	1.00[CEU][hapmap];0.91[JPT][hapmap];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12436759	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12436956	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12588272	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12878548	0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12894652	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17841064	1.00[CEU][hapmap];0.91[JPT][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2023395	0.82[EUR][1000 genomes]
rs2071407	0.91[CHB][hapmap];0.95[JPT][hapmap];0.82[ASN][1000 genomes]
rs2071408	0.82[ASN][1000 genomes]
rs2273699	0.90[YRI][hapmap]
rs2273701	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2273702	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2403174	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2403192	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2756128	0.82[EUR][1000 genomes]
rs2756132	1.00[CEU][hapmap];0.91[JPT][hapmap];0.82[EUR][1000 genomes]
rs2756135	1.00[CEU][hapmap];0.91[JPT][hapmap];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2765046	0.82[EUR][1000 genomes]
rs2765049	0.82[EUR][1000 genomes]
rs2765051	0.85[CEU][hapmap];0.85[CHB][hapmap];0.91[JPT][hapmap];0.81[EUR][1000 genomes]
rs34251103	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34411783	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34831235	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs35233301	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35410438	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35512556	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3783399	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3783402	0.87[YRI][hapmap]
rs4143998	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4243738	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4243739	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4906319	0.94[CEU][hapmap];0.87[JPT][hapmap]
rs4906320	0.94[CEU][hapmap];0.87[JPT][hapmap];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4906322	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4906324	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4906329	1.00[CEU][hapmap];0.95[JPT][hapmap];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs55658071	0.85[AFR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs55742283	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs57344120	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs60235428	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6575982	0.94[CEU][hapmap];0.87[JPT][hapmap];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6575985	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6575986	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6575988	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6575991	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7140647	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7144010	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7144271	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7145753	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7146215	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7146506	0.94[YRI][hapmap]
rs7147664	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7148614	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7149767	0.94[CEU][hapmap];0.87[JPT][hapmap];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7152202	0.90[YRI][hapmap]
rs7156036	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7156471	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7158822	0.89[YRI][hapmap]
rs7159668	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8003740	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8010247	1.00[CEU][hapmap];0.90[JPT][hapmap];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs8014013	1.00[CEU][hapmap];0.91[JPT][hapmap];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs8014800	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs8015429	0.88[EUR][1000 genomes]
rs8015918	0.90[YRI][hapmap]
rs8016676	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8018400	1.00[CEU][hapmap];0.91[JPT][hapmap];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs911552	0.91[JPT][hapmap]
rs911554	0.91[JPT][hapmap]
rs911555	0.91[JPT][hapmap]
rs9671414	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9671911	0.87[YRI][hapmap]
rs975892	1.00[CEU][hapmap];0.91[JPT][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[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
rs7148567	BAG5	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:103861000-103882400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr14:103862000-103919400	Weak transcription	Colonic Mucosa	Colon
3	chr14:103866600-103883400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr14:103868400-103883200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr14:103868400-103883800	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr14:103868600-103883200	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr14:103869600-103882800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr14:103870800-103883200	Weak transcription	Primary hematopoietic stem cells	blood
9	chr14:103870800-103883200	Weak transcription	HSMMtube	muscle
10	chr14:103871000-103883000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr14:103871000-103883200	Weak transcription	Aorta	Aorta
12	chr14:103871000-103883600	Strong transcription	Dnd41	blood
13	chr14:103871000-103884400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr14:103871400-103882800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr14:103871600-103883200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr14:103871600-103883400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr14:103872000-103883200	Strong transcription	Primary T helper cells fromperipheralblood	blood
18	chr14:103872200-103883800	Strong transcription	Primary B cells from peripheral blood	blood
19	chr14:103874600-103884200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
20	chr14:103874600-103900800	Weak transcription	Rectal Smooth Muscle	rectum
21	chr14:103874800-103883000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr14:103875200-103888200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr14:103875200-103889200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr14:103875200-103893600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr14:103875400-103882600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr14:103875400-103882600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr14:103875400-103882600	Weak transcription	Ovary	ovary
28	chr14:103875400-103882800	Weak transcription	Right Atrium	heart
29	chr14:103875400-103883000	Weak transcription	Brain Angular Gyrus	brain
30	chr14:103875400-103883200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr14:103875400-103883200	Weak transcription	Skeletal Muscle Female	skeletal muscle
32	chr14:103875400-103883600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
33	chr14:103875400-103884200	Weak transcription	Psoas Muscle	Psoas
34	chr14:103875400-103884600	Weak transcription	Small Intestine	intestine
35	chr14:103875400-103887400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
36	chr14:103875400-103888600	Weak transcription	Gastric	stomach
37	chr14:103875400-103889600	Weak transcription	Colon Smooth Muscle	Colon
38	chr14:103875400-103892200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
39	chr14:103875400-103893600	Weak transcription	Brain Germinal Matrix	brain
40	chr14:103875600-103882800	Weak transcription	Brain Cingulate Gyrus	brain
41	chr14:103875600-103883000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr14:103875600-103883400	Weak transcription	Stomach Mucosa	stomach
43	chr14:103875600-103884600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
44	chr14:103875600-103893800	Weak transcription	Fetal Heart	heart
45	chr14:103875600-103894000	Weak transcription	Fetal Brain Male	brain
46	chr14:103875800-103889800	Weak transcription	Lung	lung
47	chr14:103876600-103883400	Strong transcription	Fetal Thymus	thymus
48	chr14:103876800-103882600	Weak transcription	Brain Anterior Caudate	brain
49	chr14:103876800-103883000	Weak transcription	Brain Substantia Nigra	brain
50	chr14:103876800-103887800	Weak transcription	Pancreas	Pancrea

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