Variant report

Variant	rs28645771
Chromosome Location	chr8:87435972-87435973
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	chr8:87424501..87430232-chr8:87432301..87437482,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000123124	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10086340	0.80[AMR][1000 genomes]
rs10095498	0.82[AMR][1000 genomes]
rs10098356	0.86[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs10956830	0.84[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs13253296	0.80[AMR][1000 genomes]
rs13258126	0.80[AMR][1000 genomes]
rs13273338	0.80[AMR][1000 genomes]
rs28378899	0.86[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs28561640	0.82[AMR][1000 genomes]
rs34227066	0.80[AMR][1000 genomes]
rs34794500	0.80[AMR][1000 genomes]
rs41469550	0.80[AMR][1000 genomes]
rs6471314	0.80[AMR][1000 genomes]
rs6471316	0.80[AMR][1000 genomes]
rs67123356	0.80[AMR][1000 genomes]
rs6992287	0.80[AMR][1000 genomes]
rs6992944	0.80[AMR][1000 genomes]
rs7007855	0.84[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs7017716	0.84[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs7830480	0.80[AMR][1000 genomes]
rs7833049	0.80[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	nsv932023	chr8:86845979-87490694	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
2	esv3349873	chr8:87185763-87603726	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	nsv1023510	chr8:87429001-87874948	Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs28645771	RMDN1	cis	Whole Blood	GTEx
rs28645771	FAM82B	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:87379600-87444000	Weak transcription	Brain Germinal Matrix	brain
2	chr8:87382400-87444000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr8:87385000-87438000	Weak transcription	Fetal Brain Male	brain
4	chr8:87388600-87441200	Weak transcription	Right Ventricle	heart
5	chr8:87404200-87440600	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr8:87405400-87443600	Weak transcription	NHLF	lung
7	chr8:87406800-87437400	Weak transcription	HSMM	muscle
8	chr8:87409200-87440800	Weak transcription	Spleen	Spleen
9	chr8:87415200-87437400	Weak transcription	NHDF-Ad	bronchial
10	chr8:87416400-87443600	Weak transcription	Primary neutrophils fromperipheralblood	blood
11	chr8:87418200-87440800	Weak transcription	Rectal Smooth Muscle	rectum
12	chr8:87419400-87437800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr8:87422200-87440800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr8:87422200-87441200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr8:87426000-87446400	Weak transcription	K562	blood
16	chr8:87426400-87438400	Weak transcription	Colon Smooth Muscle	Colon
17	chr8:87426800-87437200	Weak transcription	Hela-S3	cervix
18	chr8:87426800-87437600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr8:87426800-87437600	Weak transcription	NH-A	brain
20	chr8:87426800-87440800	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr8:87427000-87437400	Weak transcription	HUVEC	blood vessel
22	chr8:87427400-87437400	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr8:87427400-87452600	Weak transcription	HSMMtube	muscle
24	chr8:87427600-87485600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr8:87428200-87443800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
26	chr8:87428600-87460800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr8:87429400-87437600	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr8:87429400-87438600	Weak transcription	Left Ventricle	heart
29	chr8:87429400-87440800	Weak transcription	Aorta	Aorta
30	chr8:87429400-87441200	Weak transcription	Gastric	stomach
31	chr8:87429400-87443600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr8:87429400-87443600	Weak transcription	Small Intestine	intestine
33	chr8:87429400-87443800	Weak transcription	Brain Angular Gyrus	brain
34	chr8:87429400-87453600	Weak transcription	Stomach Mucosa	stomach
35	chr8:87429600-87438200	Weak transcription	Brain Anterior Caudate	brain
36	chr8:87429600-87440000	Weak transcription	Brain Inferior Temporal Lobe	brain
37	chr8:87429600-87440800	Weak transcription	Pancreas	Pancrea
38	chr8:87429800-87437400	Weak transcription	Fetal Heart	heart
39	chr8:87429800-87443800	Weak transcription	Brain Hippocampus Middle	brain
40	chr8:87429800-87444000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr8:87430000-87440800	Weak transcription	Brain Substantia Nigra	brain
42	chr8:87430200-87440800	Weak transcription	Brain Cingulate Gyrus	brain
43	chr8:87430800-87437400	Weak transcription	Skeletal Muscle Female	skeletal muscle
44	chr8:87431000-87438000	Weak transcription	Stomach Smooth Muscle	stomach
45	chr8:87431000-87438600	Weak transcription	Thymus	Thymus
46	chr8:87431200-87437400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
47	chr8:87431200-87437400	Weak transcription	Fetal Kidney	kidney
48	chr8:87431200-87437400	Weak transcription	Fetal Thymus	thymus
49	chr8:87431200-87440800	Weak transcription	Esophagus	oesophagus
50	chr8:87431400-87436400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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