Variant report

Variant	rs35512556
Chromosome Location	chr14:103884240-103884241
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	chr14:103799657..103801289-chr14:103882797..103884617,2	MCF-7	breast:
2	chr14:103883876..103886732-chr14:103888841..103890509,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000100664	Chromatin interaction

Extended variants
information (count: 80 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:76)

rs_ID	r²[population]
rs10144051	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10148970	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10151483	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10162425	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1107070	0.82[EUR][1000 genomes]
rs11160751	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1116095	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1138400	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11620897	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11627446	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12431617	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12432803	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12435516	0.83[EUR][1000 genomes]
rs12436729	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12436759	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12436956	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12588272	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12878548	0.82[EUR][1000 genomes]
rs12894652	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17841064	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2023395	0.82[EUR][1000 genomes]
rs2071407	0.81[ASN][1000 genomes]
rs2071408	0.81[ASN][1000 genomes]
rs2273701	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2273702	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2403174	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2403192	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2756128	0.82[EUR][1000 genomes]
rs2756132	0.82[EUR][1000 genomes]
rs2756135	0.82[EUR][1000 genomes]
rs2765046	0.82[EUR][1000 genomes]
rs2765049	0.82[EUR][1000 genomes]
rs2765051	0.81[EUR][1000 genomes]
rs34251103	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs34411783	0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34831235	0.83[EUR][1000 genomes]
rs35233301	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35410438	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3783399	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4143998	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4243738	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4243739	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4906320	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4906322	0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4906324	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4906329	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs55658071	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs55742283	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs57344120	0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs60235428	0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6575982	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6575985	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6575986	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6575988	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6575991	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7140647	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7144010	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7144271	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7145753	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7146215	0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7147664	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7148567	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7148614	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7149767	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7156036	0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7156471	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7159668	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8003740	0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8010247	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8014013	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8014800	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8015429	0.88[EUR][1000 genomes]
rs8016676	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8018400	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9671414	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs975892	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[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
rs35512556	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	chr14:103862000-103919400	Weak transcription	Colonic Mucosa	Colon
2	chr14:103871000-103884400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr14:103874600-103900800	Weak transcription	Rectal Smooth Muscle	rectum
4	chr14:103875200-103888200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr14:103875200-103889200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr14:103875200-103893600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr14:103875400-103884600	Weak transcription	Small Intestine	intestine
8	chr14:103875400-103887400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr14:103875400-103888600	Weak transcription	Gastric	stomach
10	chr14:103875400-103889600	Weak transcription	Colon Smooth Muscle	Colon
11	chr14:103875400-103892200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr14:103875400-103893600	Weak transcription	Brain Germinal Matrix	brain
13	chr14:103875600-103884600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
14	chr14:103875600-103893800	Weak transcription	Fetal Heart	heart
15	chr14:103875600-103894000	Weak transcription	Fetal Brain Male	brain
16	chr14:103875800-103889800	Weak transcription	Lung	lung
17	chr14:103876800-103887800	Weak transcription	Pancreas	Pancrea
18	chr14:103879000-103892800	Weak transcription	Spleen	Spleen
19	chr14:103879000-103895200	Weak transcription	Duodenum Mucosa	Duodenum
20	chr14:103879000-103914200	Weak transcription	Esophagus	oesophagus
21	chr14:103879000-103941400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr14:103879200-103887200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr14:103879600-103889400	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr14:103879800-103887400	Weak transcription	HepG2	liver
25	chr14:103880400-103894200	Weak transcription	Liver	Liver
26	chr14:103880400-103904600	Weak transcription	Fetal Kidney	kidney
27	chr14:103881000-103887000	Weak transcription	Thymus	Thymus
28	chr14:103881000-103889200	Weak transcription	Stomach Smooth Muscle	stomach
29	chr14:103881000-103890600	Weak transcription	Fetal Muscle Trunk	muscle
30	chr14:103881000-103900600	Weak transcription	Placenta	Placenta
31	chr14:103882000-103886000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr14:103882000-103887200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr14:103882200-103884600	Enhancers	Primary neutrophils fromperipheralblood	blood
34	chr14:103882600-103885000	Enhancers	Adipose Nuclei	Adipose
35	chr14:103882600-103885200	Enhancers	HUES64 Cell Line	embryonic stem cell
36	chr14:103882600-103886800	Enhancers	Primary monocytes fromperipheralblood	blood
37	chr14:103882800-103885000	Enhancers	Brain Cingulate Gyrus	brain
38	chr14:103882800-103885600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr14:103883000-103885000	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr14:103883000-103885000	Enhancers	Brain Angular Gyrus	brain
41	chr14:103883000-103885000	Enhancers	Brain Substantia Nigra	brain
42	chr14:103883000-103885000	Enhancers	Left Ventricle	heart
43	chr14:103883000-103885400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr14:103883000-103886200	Enhancers	Brain Hippocampus Middle	brain
45	chr14:103883000-103894400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr14:103883200-103884800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr14:103883200-103885000	Enhancers	Aorta	Aorta
48	chr14:103883200-103885000	Enhancers	HSMMtube	muscle
49	chr14:103883200-103885200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr14:103883200-103885200	Enhancers	Primary hematopoietic stem cells	blood

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