Variant report

Variant	rs166757
Chromosome Location	chr5:70880143-70880144
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	chr5:70880133..70886735-chr5:70895650..70901637,10	MCF-7	breast:

Variant related genes	Relation type
ENSG00000131844	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:81)

rs_ID	r²[population]
rs11742923	0.80[AMR][1000 genomes]
rs13175174	0.80[AMR][1000 genomes]
rs13185319	0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1559260	0.80[AMR][1000 genomes]
rs156754	0.80[AMR][1000 genomes]
rs156755	0.80[AMR][1000 genomes]
rs157044	0.81[AMR][1000 genomes]
rs157045	0.80[EUR][1000 genomes]
rs157046	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1693895	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs172148	0.82[EUR][1000 genomes]
rs175872	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1833856	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs185733	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs188059	0.82[EUR][1000 genomes]
rs2059195	0.80[AMR][1000 genomes]
rs2432060	0.80[AMR][1000 genomes]
rs276590	0.80[AMR][1000 genomes]
rs276591	0.80[AMR][1000 genomes]
rs276598	0.81[AMR][1000 genomes]
rs277939	0.83[AMR][1000 genomes]
rs277942	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs277944	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs277945	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs277957	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs277958	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs277960	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs277961	0.84[AMR][1000 genomes]
rs277962	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs277963	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs277964	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs277965	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs277966	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs277967	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs279337	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs35420270	0.80[AMR][1000 genomes]
rs375458	0.81[AMR][1000 genomes]
rs3761967	0.80[AMR][1000 genomes]
rs378585	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs404692	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4337836	0.80[AMR][1000 genomes]
rs439698	0.80[AMR][1000 genomes]
rs445771	0.81[EUR][1000 genomes]
rs457908	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs458009	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs458370	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs459298	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs461215	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs462282	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs463871	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs464155	0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs464594	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs464962	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs465073	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs466930	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs467381	0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs467413	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs467851	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs468028	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs468033	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs468158	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs468446	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs468564	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs468633	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs468658	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs468776	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs468832	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs469039	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs469142	0.81[EUR][1000 genomes]
rs469369	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs469379	0.82[EUR][1000 genomes]
rs469548	0.83[AMR][1000 genomes]
rs469617	0.82[EUR][1000 genomes]
rs4704049	0.80[AMR][1000 genomes]
rs4704096	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs560394	0.80[AMR][1000 genomes]
rs62361813	0.83[AMR][1000 genomes]
rs6871754	0.80[AMR][1000 genomes]
rs7726336	0.80[AMR][1000 genomes]
rs7737101	0.80[AMR][1000 genomes]
rs9791120	0.83[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1034703	chr5:70391173-70995695	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	esv2754424	chr5:70749744-70885544	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
3	nsv830340	chr5:70797113-70967110	Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs166757	BDP1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:70850000-70882200	Weak transcription	Psoas Muscle	Psoas
2	chr5:70856800-70882400	Weak transcription	NHEK	skin
3	chr5:70857000-70882200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr5:70857800-70882200	Weak transcription	Brain Angular Gyrus	brain
5	chr5:70858800-70882200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
6	chr5:70858800-70882200	Weak transcription	Colon Smooth Muscle	Colon
7	chr5:70859200-70882400	Weak transcription	Right Ventricle	heart
8	chr5:70859400-70882200	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr5:70861400-70882200	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr5:70861400-70882400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
11	chr5:70861600-70882200	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr5:70861600-70882200	Weak transcription	GM12878-XiMat	blood
13	chr5:70861600-70882400	Weak transcription	Primary B cells from cord blood	blood
14	chr5:70863200-70882400	Weak transcription	HUVEC	blood vessel
15	chr5:70864200-70882400	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr5:70864200-70882400	Weak transcription	HSMM	muscle
17	chr5:70864400-70881800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr5:70864400-70882000	Weak transcription	Liver	Liver
19	chr5:70864400-70882200	Weak transcription	Left Ventricle	heart
20	chr5:70864400-70882200	Weak transcription	Pancreas	Pancrea
21	chr5:70864400-70882400	Weak transcription	HSMMtube	muscle
22	chr5:70864600-70881800	Weak transcription	Primary T cells fromperipheralblood	blood
23	chr5:70864600-70882200	Weak transcription	Brain Anterior Caudate	brain
24	chr5:70864600-70882200	Weak transcription	Brain Cingulate Gyrus	brain
25	chr5:70864600-70882200	Weak transcription	Brain Substantia Nigra	brain
26	chr5:70864600-70882200	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr5:70864600-70882200	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr5:70864600-70882400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr5:70864600-70882400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr5:70864600-70882400	Weak transcription	Esophagus	oesophagus
31	chr5:70864600-70882400	Weak transcription	Fetal Intestine Large	intestine
32	chr5:70864600-70882400	Weak transcription	Thymus	Thymus
33	chr5:70864600-70882600	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr5:70864800-70882000	Weak transcription	HUES64 Cell Line	embryonic stem cell
35	chr5:70864800-70882200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr5:70864800-70882200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
37	chr5:70864800-70882400	Weak transcription	A549	lung
38	chr5:70865000-70882000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr5:70865000-70882000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr5:70865000-70882200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr5:70865000-70882200	Weak transcription	Brain Hippocampus Middle	brain
42	chr5:70865000-70882400	Weak transcription	Small Intestine	intestine
43	chr5:70865000-70882400	Weak transcription	HMEC	breast
44	chr5:70865200-70882200	Weak transcription	Fetal Muscle Trunk	muscle
45	chr5:70865600-70882400	Weak transcription	Fetal Stomach	stomach
46	chr5:70868200-70882200	Weak transcription	Fetal Thymus	thymus
47	chr5:70868200-70882400	Weak transcription	Pancreatic Islets	Pancreatic Islet
48	chr5:70869600-70882400	Weak transcription	Primary T cells from cord blood	blood
49	chr5:70869800-70882200	Weak transcription	Stomach Smooth Muscle	stomach
50	chr5:70870000-70882000	Weak transcription	Duodenum Mucosa	Duodenum

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