Variant report

Variant	rs6884864
Chromosome Location	chr5:43463138-43463139
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	chr5:43460240..43463188-chr5:43481708..43484249,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000151881	Chromatin interaction
ENSG00000249492	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs16873327	0.88[AMR][1000 genomes]
rs16873361	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6867927	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6880159	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6886244	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6896589	0.83[AMR][1000 genomes]
rs6897816	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7728139	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv881017	chr5:43444826-43731692	Weak transcription Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	222 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs6884864	CYB5B	trans	lymphoblastoid	RTeQTL
rs6884864	NNT	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:43433800-43483400	Weak transcription	Gastric	stomach
2	chr5:43440800-43466400	Weak transcription	Colon Smooth Muscle	Colon
3	chr5:43440800-43466800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
4	chr5:43441600-43466600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
5	chr5:43444000-43463600	Weak transcription	Stomach Smooth Muscle	stomach
6	chr5:43444000-43464400	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr5:43444000-43467000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr5:43444000-43467000	Weak transcription	Left Ventricle	heart
9	chr5:43444000-43482600	Weak transcription	HMEC	breast
10	chr5:43444200-43467000	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr5:43444200-43472600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr5:43444400-43463800	Weak transcription	Small Intestine	intestine
13	chr5:43444600-43463600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr5:43444600-43466800	Weak transcription	Brain Angular Gyrus	brain
15	chr5:43444800-43466600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr5:43444800-43482600	Weak transcription	Rectal Smooth Muscle	rectum
17	chr5:43445200-43466800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr5:43448200-43467400	Weak transcription	Primary T helper cells fromperipheralblood	blood
19	chr5:43448200-43471800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
20	chr5:43448400-43466200	Weak transcription	Primary T cells fromperipheralblood	blood
21	chr5:43453400-43466200	Weak transcription	Liver	Liver
22	chr5:43453800-43466200	Weak transcription	Primary T helper cells PMA-I stimulated	--
23	chr5:43453800-43482600	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr5:43454000-43482400	Weak transcription	Osteobl	bone
25	chr5:43454800-43466200	Weak transcription	Adipose Nuclei	Adipose
26	chr5:43454800-43482800	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr5:43457200-43466200	Weak transcription	A549	lung
28	chr5:43457600-43463600	Weak transcription	Esophagus	oesophagus
29	chr5:43459600-43466200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr5:43460400-43466200	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr5:43460400-43466400	Weak transcription	Primary B cells from peripheral blood	blood
32	chr5:43460400-43467000	Weak transcription	Ovary	ovary
33	chr5:43460400-43467400	Weak transcription	HUVEC	blood vessel
34	chr5:43460400-43472600	Weak transcription	Fetal Kidney	kidney
35	chr5:43460600-43466200	Weak transcription	Monocytes-CD14+_RO01746	blood
36	chr5:43460600-43471600	Weak transcription	NHDF-Ad	bronchial
37	chr5:43460600-43472000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr5:43461000-43470000	Weak transcription	HSMMtube	muscle
39	chr5:43461000-43482400	Weak transcription	NHLF	lung
40	chr5:43461200-43465000	Weak transcription	K562	blood
41	chr5:43461200-43466200	Weak transcription	HUES48 Cell Line	embryonic stem cell
42	chr5:43461200-43466200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr5:43461200-43466200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr5:43461200-43466600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr5:43461200-43467000	Weak transcription	Aorta	Aorta
46	chr5:43461200-43468000	Weak transcription	Thymus	Thymus
47	chr5:43461200-43482800	Weak transcription	Skeletal Muscle Male	skeletal muscle
48	chr5:43461200-43483400	Weak transcription	Pancreas	Pancrea
49	chr5:43461400-43466200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr5:43461600-43469800	Weak transcription	HSMM	muscle

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