Variant report

Variant	rs2689089
Chromosome Location	chr6:34988391-34988392
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:34986567..34989328-chr6:34993280..34995092,2	K562	blood:
2	chr6:34981724..34983680-chr6:34987265..34989470,3	K562	blood:
3	chr6:34984374..34990603-chr6:34991816..34996687,6	K562	blood:

Extended variants
information (count: 4 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs1880090	0.95[CEU][hapmap];0.88[EUR][1000 genomes]
rs67388064	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022844	chr6:34317219-35060519	Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv538195	chr6:34317219-35060519	Enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs2689089	NUDT3	cis	parietal	SCAN
rs2689089	TCP11	cis	lymphoblastoid	seeQTL
rs2689089	TAF11	cis	cerebellum	SCAN
rs2689089	PPIL1	cis	parietal	SCAN
rs2689089	C6orf89	cis	parietal	SCAN
rs2689089	DEF6	cis	multi-tissue	Pritchard

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:34926800-34992200	Weak transcription	Small Intestine	intestine
2	chr6:34939400-35016000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr6:34963000-34989400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr6:34963600-34990000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr6:34963600-35006600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr6:34971000-34988400	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr6:34979800-34990800	Weak transcription	K562	blood
8	chr6:34979800-35002000	Weak transcription	GM12878-XiMat	blood
9	chr6:34982800-34991800	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr6:34982800-34992200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr6:34983000-34991800	Weak transcription	HMEC	breast
12	chr6:34983600-34992000	Weak transcription	A549	lung
13	chr6:34983800-34992200	Strong transcription	Monocytes-CD14+_RO01746	blood
14	chr6:34984800-34989600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
15	chr6:34984800-34991000	Strong transcription	Primary neutrophils fromperipheralblood	blood
16	chr6:34985000-34988400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr6:34985000-34990800	Strong transcription	Primary T cells from cord blood	blood
18	chr6:34985000-34991400	Strong transcription	Primary monocytes fromperipheralblood	blood
19	chr6:34985200-34989400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr6:34985200-34989400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr6:34985200-34990000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr6:34985200-34990200	Weak transcription	Pancreatic Islets	Pancreatic Islet
23	chr6:34985400-34988400	Strong transcription	HepG2	liver
24	chr6:34985400-34988600	Strong transcription	Primary hematopoietic stem cells	blood
25	chr6:34985400-34988600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr6:34985400-34989600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr6:34985400-34991000	Weak transcription	Hela-S3	cervix
28	chr6:34985600-34989200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr6:34986000-34988400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr6:34986000-34988800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr6:34986000-34992200	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr6:34986200-34988400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
33	chr6:34986200-34988400	Weak transcription	Pancreas	Pancrea
34	chr6:34986200-34989800	Weak transcription	Primary T cells fromperipheralblood	blood
35	chr6:34986200-34991800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr6:34986200-34991800	Weak transcription	NHDF-Ad	bronchial
37	chr6:34986200-34991800	Weak transcription	NHLF	lung
38	chr6:34986200-34992000	Weak transcription	NHEK	skin
39	chr6:34986200-34992200	Weak transcription	Osteobl	bone
40	chr6:34986200-34996400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
41	chr6:34986200-35015000	Weak transcription	Primary B cells from peripheral blood	blood
42	chr6:34986400-34989400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
43	chr6:34986400-34990200	Genic enhancers	Placenta	Placenta
44	chr6:34986400-34990800	Genic enhancers	Liver	Liver
45	chr6:34986400-35011800	Weak transcription	Dnd41	blood
46	chr6:34986600-34991600	Flanking Active TSS	Stomach Smooth Muscle	stomach
47	chr6:34986600-34992400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr6:34986600-34993000	Weak transcription	Esophagus	oesophagus
49	chr6:34986800-34988400	Weak transcription	H1 Cell Line	embryonic stem cell
50	chr6:34986800-34988800	Weak transcription	Colonic Mucosa	Colon

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