Variant report

Variant	rs12436759
Chromosome Location	chr14:103859232-103859233
allele	C/T
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:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:103858408..103860033-chr14:103999938..104001765,2	K562	blood:
2	chr14:103857798..103859771-chr14:103910641..103912679,2	K562	blood:
3	chr14:103804940..103815889-chr14:103850459..103863829,28	K562	blood:
4	chr14:103794753..103806137-chr14:103849038..103864103,36	MCF-7	breast:
5	chr14:103851699..103854613-chr14:103856895..103861011,6	K562	blood:
6	chr14:103799041..103818802-chr14:103836567..103862153,82	K562	blood:
7	chr14:103797262..103804754-chr14:103849003..103864058,49	MCF-7	breast:
8	chr14:103850800..103853392-chr14:103855974..103862229,10	MCF-7	breast:
9	chr14:103858514..103860742-chr14:103895257..103897427,2	K562	blood:
10	chr14:103857859..103859915-chr14:103987726..103989753,2	K562	blood:
11	chr14:103857465..103860376-chr14:103860397..103862103,2	K562	blood:
12	chr14:103798491..103802781-chr14:103859089..103862321,5	K562	blood:
13	chr14:103858689..103864179-chr14:103864270..103870415,8	K562	blood:
14	chr14:103857593..103860875-chr14:103861625..103865157,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000166165	Chromatin interaction
ENSG00000075413	Chromatin interaction
ENSG00000272533	Chromatin interaction
ENSG00000259775	Chromatin interaction
ENSG00000100664	Chromatin interaction

Extended variants
information (count: 78 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:72)

rs_ID	r²[population]
rs10144051	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10148970	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10162425	0.83[EUR][1000 genomes]
rs11160751	0.83[EUR][1000 genomes]
rs1116095	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1138400	0.80[EUR][1000 genomes]
rs11620897	0.86[EUR][1000 genomes]
rs11627446	0.86[EUR][1000 genomes]
rs12431617	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12432803	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12435516	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12436729	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12436956	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12588272	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12878548	0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs12889639	0.80[AFR][1000 genomes]
rs12890750	0.80[AFR][1000 genomes]
rs12894652	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17841064	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2273701	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2273702	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2403174	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2756132	0.80[ASN][1000 genomes]
rs2756135	0.83[ASN][1000 genomes]
rs34251103	0.97[AMR][1000 genomes];0.99[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	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35233301	0.92[AMR][1000 genomes];0.89[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	0.92[ASN][1000 genomes]
rs4143998	0.80[EUR][1000 genomes]
rs4243738	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4243739	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4900573	0.84[ASN][1000 genomes]
rs4906320	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4906322	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4906324	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4906329	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs55658071	0.86[EUR][1000 genomes]
rs55742283	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs57344120	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs60235428	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6575982	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[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	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6575991	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7140564	0.81[AFR][1000 genomes]
rs7140647	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7144010	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7144271	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7145753	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7146215	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7147640	0.82[AMR][1000 genomes]
rs7147664	0.80[EUR][1000 genomes]
rs7148567	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7148614	0.82[EUR][1000 genomes]
rs7149767	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7156036	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7156471	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7159668	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7160888	0.89[ASN][1000 genomes]
rs8003740	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8010247	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8014013	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8014800	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8015429	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs8016676	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8018400	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs975892	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1042714	chr14:103085298-103860730	Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
2	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
3	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
4	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
5	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
6	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
rs12436759	BAG5	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:103853000-103861800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr14:103853200-103860600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr14:103853600-103860200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr14:103853600-103860200	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr14:103853600-103860600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr14:103853600-103861800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr14:103853600-103864200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr14:103853800-103864400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr14:103853800-103867400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr14:103854000-103860200	Weak transcription	Colonic Mucosa	Colon
11	chr14:103854200-103859400	Weak transcription	Lung	lung
12	chr14:103854200-103859400	Weak transcription	HSMM	muscle
13	chr14:103854600-103859600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr14:103854600-103859600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr14:103854600-103861800	Weak transcription	Aorta	Aorta
16	chr14:103854800-103860600	Weak transcription	Spleen	Spleen
17	chr14:103854800-103865200	Enhancers	Primary T cells fromperipheralblood	blood
18	chr14:103855000-103859600	Weak transcription	NH-A	brain
19	chr14:103855000-103860200	Weak transcription	Fetal Muscle Leg	muscle
20	chr14:103855000-103862400	Weak transcription	Placenta	Placenta
21	chr14:103855000-103868000	Weak transcription	Fetal Stomach	stomach
22	chr14:103855000-103874800	Weak transcription	Fetal Brain Male	brain
23	chr14:103855200-103859400	Weak transcription	Duodenum Mucosa	Duodenum
24	chr14:103855200-103859400	Weak transcription	Right Atrium	heart
25	chr14:103855200-103859400	Weak transcription	K562	blood
26	chr14:103855200-103859600	Weak transcription	Fetal Heart	heart
27	chr14:103855200-103859600	Weak transcription	Rectal Smooth Muscle	rectum
28	chr14:103855200-103859600	Weak transcription	HUVEC	blood vessel
29	chr14:103855200-103859800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr14:103855200-103860000	Weak transcription	Fetal Muscle Trunk	muscle
31	chr14:103855200-103860200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr14:103855200-103860200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr14:103855200-103860200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr14:103855200-103860200	Weak transcription	NHLF	lung
35	chr14:103855200-103860600	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr14:103855200-103861800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr14:103855200-103861800	Weak transcription	Rectal Mucosa Donor 29	rectum
38	chr14:103855200-103864200	Weak transcription	Fetal Kidney	kidney
39	chr14:103855200-103865000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr14:103855200-103871800	Weak transcription	Brain Germinal Matrix	brain
41	chr14:103855400-103860600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr14:103856400-103863200	Enhancers	Primary T helper naive cells from peripheral blood	blood
43	chr14:103856400-103863800	Enhancers	Monocytes-CD14+_RO01746	blood
44	chr14:103856600-103863200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr14:103856600-103863800	Enhancers	Primary T helper cells fromperipheralblood	blood
46	chr14:103856600-103871200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
47	chr14:103856600-103871600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
48	chr14:103856800-103863200	Enhancers	Primary neutrophils fromperipheralblood	blood
49	chr14:103856800-103863400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr14:103857000-103862000	Enhancers	Primary T helper cells PMA-I stimulated	--

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