Variant report

Variant	rs7149767
Chromosome Location	chr14:103863545-103863546
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:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:103863256..103865942-chr14:103868346..103872041,4	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	chr14:103849131..103853013-chr14:103859929..103865676,7	MCF-7	breast:
6	chr14:103857593..103860875-chr14:103861625..103865157,4	MCF-7	breast:
7	chr14:103858689..103864179-chr14:103864270..103870415,8	K562	blood:

No data

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

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

rSNPs within LD-proxies of this variant (count:82)

rs_ID	r²[population]
rs10144051	0.94[CEU][hapmap];0.86[JPT][hapmap];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10148970	0.94[CEU][hapmap];0.86[JPT][hapmap];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10149470	0.88[JPT][hapmap]
rs10162425	1.00[CEU][hapmap];0.87[JPT][hapmap];0.84[EUR][1000 genomes]
rs1107070	0.94[CEU][hapmap];0.90[CHB][hapmap];0.95[JPT][hapmap];0.93[YRI][hapmap]
rs11160751	0.84[EUR][1000 genomes]
rs1116095	0.94[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.93[YRI][hapmap];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1138400	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11620897	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11627446	0.87[EUR][1000 genomes]
rs12431617	0.82[AFR][1000 genomes];0.97[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];0.89[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];0.93[YRI][hapmap];0.84[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];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12436759	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12436956	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12588272	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12878548	0.85[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs12879085	0.86[YRI][hapmap]
rs12894652	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12898029	0.81[YRI][hapmap]
rs17841064	0.94[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.93[YRI][hapmap];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2071407	0.82[JPT][hapmap]
rs2273701	0.90[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	0.90[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];0.80[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2756135	0.94[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.93[YRI][hapmap];0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2765051	0.80[CEU][hapmap];0.90[CHB][hapmap];0.95[JPT][hapmap]
rs34251103	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34411783	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34831235	0.80[AMR][1000 genomes];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	0.90[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];0.95[CHB][hapmap];0.91[JPT][hapmap];0.92[ASN][1000 genomes]
rs4143998	0.89[CEU][hapmap];0.86[JPT][hapmap];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4243738	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4243739	0.94[AFR][1000 genomes];0.97[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];0.96[YRI][hapmap]
rs4906320	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[YRI][hapmap];0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4906322	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4906324	0.90[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];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs55658071	0.87[EUR][1000 genomes]
rs55742283	0.83[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	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6575982	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]
rs6575983	0.83[YRI][hapmap]
rs6575985	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6575986	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6575988	0.94[CEU][hapmap];0.86[JPT][hapmap];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6575991	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7140647	0.83[YRI][hapmap];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7144010	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7144271	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7145753	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7146215	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7147640	0.85[AMR][1000 genomes]
rs7147664	1.00[CEU][hapmap];0.87[JPT][hapmap];0.81[EUR][1000 genomes]
rs7148567	0.94[CEU][hapmap];0.87[JPT][hapmap];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7148614	0.83[EUR][1000 genomes]
rs7156036	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7156471	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7159668	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7160888	0.89[ASN][1000 genomes]
rs8003740	0.92[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[YRI][hapmap];0.87[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];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8014800	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8015429	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs8016676	0.97[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];0.93[YRI][hapmap];0.97[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];0.93[YRI][hapmap];0.96[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
rs7149767	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	chr14:103856400-103863800	Enhancers	Monocytes-CD14+_RO01746	blood
11	chr14:103856600-103863800	Enhancers	Primary T helper cells fromperipheralblood	blood
12	chr14:103856600-103871200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
13	chr14:103856600-103871600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
14	chr14:103857000-103871000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
15	chr14:103858400-103863600	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr14:103858400-103865000	Enhancers	Pancreas	Pancrea
17	chr14:103858800-103864400	Weak transcription	Gastric	stomach
18	chr14:103858800-103871400	Weak transcription	Fetal Brain Female	brain
19	chr14:103859400-103866000	Enhancers	Primary T killer memory cells from peripheral blood	blood
20	chr14:103859800-103863600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
21	chr14:103860400-103866200	Weak transcription	Lung	lung
22	chr14:103860400-103871400	Weak transcription	Fetal Muscle Trunk	muscle
23	chr14:103860800-103867600	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr14:103860800-103871400	Weak transcription	Fetal Intestine Large	intestine
25	chr14:103861000-103863600	Enhancers	Brain Inferior Temporal Lobe	brain
26	chr14:103861000-103864200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr14:103861000-103864400	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr14:103861000-103864600	Weak transcription	Fetal Intestine Small	intestine
29	chr14:103861000-103864600	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr14:103861000-103865200	Enhancers	Left Ventricle	heart
31	chr14:103861000-103865600	Weak transcription	Primary hematopoietic stem cells	blood
32	chr14:103861000-103866200	Weak transcription	Spleen	Spleen
33	chr14:103861000-103866400	Weak transcription	Stomach Smooth Muscle	stomach
34	chr14:103861000-103866600	Weak transcription	Dnd41	blood
35	chr14:103861000-103867000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr14:103861000-103867800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr14:103861000-103867800	Weak transcription	Esophagus	oesophagus
38	chr14:103861000-103867800	Weak transcription	Fetal Muscle Leg	muscle
39	chr14:103861000-103874800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr14:103861000-103882400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr14:103861800-103864400	Weak transcription	Cortex derived primary cultured neurospheres	brain
42	chr14:103862000-103864400	Weak transcription	HepG2	liver
43	chr14:103862000-103866400	Weak transcription	Fetal Thymus	thymus
44	chr14:103862000-103867600	Weak transcription	Rectal Mucosa Donor 29	rectum
45	chr14:103862000-103919400	Weak transcription	Colonic Mucosa	Colon
46	chr14:103862200-103865000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
47	chr14:103862400-103863600	Enhancers	GM12878-XiMat	blood
48	chr14:103862400-103864200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr14:103862400-103864200	Weak transcription	NHEK	skin
50	chr14:103862400-103864400	Weak transcription	H1 Cell Line	embryonic stem cell

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