Variant report

Variant	rs6758999
Chromosome Location	chr2:46720929-46720930
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:46707494..46710484-chr2:46718946..46721502,2	K562	blood:
2	chr2:46715260..46716783-chr2:46718663..46721578,2	MCF-7	breast:

Extended variants
information (count: 17 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs2346412	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6713990	1.00[ASW][hapmap];0.88[CEU][hapmap];0.90[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[LWK][hapmap];0.83[MEX][hapmap];0.92[TSI][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1012446	chr2:45921682-46737036	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
2	esv2757795	chr2:46532812-46874151	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
3	esv2759046	chr2:46532812-46874151	Active TSS Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
4	esv34650	chr2:46605659-46818992	Enhancers Weak transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
5	esv2756919	chr2:46614235-46756431	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
6	nsv437435	chr2:46636967-46763587	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
7	esv34937	chr2:46651624-46818586	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
8	nsv9702	chr2:46668106-46745740	Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
9	nsv817828	chr2:46670146-46739157	Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
10	nsv1014425	chr2:46670179-47033417	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
11	nsv535678	chr2:46670179-47033417	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
12	nsv873996	chr2:46670941-47065227	Strong transcription Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
13	nsv519216	chr2:46683683-46723219	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
14	nsv457341	chr2:46712759-46724016	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
15	nsv581748	chr2:46712759-46724016	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6758999	OXER1	cis	parietal	SCAN

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:46714800-46721600	Enhancers	Cortex derived primary cultured neurospheres	brain
2	chr2:46718000-46722600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr2:46718200-46721000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr2:46718200-46722600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr2:46718200-46726600	Weak transcription	Aorta	Aorta
6	chr2:46718400-46721000	Enhancers	Brain Hippocampus Middle	brain
7	chr2:46718400-46721000	Weak transcription	Right Atrium	heart
8	chr2:46718400-46726600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr2:46718600-46722000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr2:46718600-46722600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr2:46718600-46725600	Weak transcription	Brain Substantia Nigra	brain
12	chr2:46718600-46726600	Weak transcription	Primary B cells from peripheral blood	blood
13	chr2:46718600-46726600	Weak transcription	Right Ventricle	heart
14	chr2:46718800-46721000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr2:46718800-46722400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr2:46718800-46726400	Weak transcription	Brain Cingulate Gyrus	brain
17	chr2:46718800-46726600	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr2:46718800-46727000	Weak transcription	Spleen	Spleen
19	chr2:46719400-46721400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr2:46719800-46721200	Enhancers	A549	lung
21	chr2:46719800-46721400	Enhancers	Fetal Heart	heart
22	chr2:46720000-46721400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr2:46720000-46721400	Enhancers	Hela-S3	cervix
24	chr2:46720000-46721400	Enhancers	NHLF	lung
25	chr2:46720000-46721400	Enhancers	Osteobl	bone
26	chr2:46720400-46721000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr2:46720400-46721000	Enhancers	Colon Smooth Muscle	Colon
28	chr2:46720400-46721000	Enhancers	HUVEC	blood vessel
29	chr2:46720400-46721000	Enhancers	NHDF-Ad	bronchial
30	chr2:46720400-46721200	Enhancers	Muscle Satellite Cultured Cells	--
31	chr2:46720400-46721200	Enhancers	Fetal Muscle Leg	muscle
32	chr2:46720400-46721200	Enhancers	Left Ventricle	heart
33	chr2:46720400-46721200	Enhancers	Placenta Amnion	Placenta Amnion
34	chr2:46720400-46721200	Enhancers	Rectal Smooth Muscle	rectum
35	chr2:46720400-46721200	Flanking Active TSS	GM12878-XiMat	blood
36	chr2:46720400-46721200	Enhancers	HMEC	breast
37	chr2:46720400-46721200	Enhancers	HSMMtube	muscle
38	chr2:46720400-46721400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr2:46720400-46721400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
40	chr2:46720400-46721600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr2:46720400-46721600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr2:46720400-46721800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr2:46720400-46721800	Enhancers	Fetal Brain Female	brain
44	chr2:46720400-46722200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr2:46720600-46721000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr2:46720600-46721000	Weak transcription	Brain Anterior Caudate	brain
47	chr2:46720600-46721000	Flanking Active TSS	NH-A	brain
48	chr2:46720600-46721200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr2:46720600-46721600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr2:46720600-46722000	Enhancers	Brain Germinal Matrix	brain

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