Variant report

Variant	rs498851
Chromosome Location	chr11:107710976-107710977
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:107705879..107708165-chr11:107709790..107712179,2	K562	blood:
2	chr11:107709816..107713345-chr11:107727610..107729677,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000110660	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs1021901	0.80[ASN][1000 genomes]
rs12291191	0.80[ASN][1000 genomes]
rs1963626	0.84[CHB][hapmap];0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533794	chr11:107349817-108093259	Bivalent Enhancer Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	nsv1039425	chr11:107468681-107895836	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
3	nsv427899	chr11:107471544-107805894	Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
4	nsv1049524	chr11:107540937-107954011	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
5	nsv1038581	chr11:107564274-107838386	Enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	12 gene(s)	inside rSNPs	diseases
6	nsv898378	chr11:107580985-107847983	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	12 gene(s)	inside rSNPs	diseases
7	nsv521771	chr11:107590335-107904646	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	18 gene(s)	inside rSNPs	diseases
8	nsv1048938	chr11:107604473-107929950	Flanking Active TSS Active TSS Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	18 gene(s)	inside rSNPs	diseases
9	nsv1035229	chr11:107653731-107717190	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS	Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
10	nsv1052829	chr11:107686808-107725297	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
11	nsv1045388	chr11:107686808-107733498	Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
12	esv3417743	chr11:107699670-107725103	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs498851	SLC35F2	cis	multi-tissue	Pritchard
rs498851	C11orf53	cis	parietal	SCAN
rs498851	SLC35F2	cis	lymphoblastoid	seeQTL

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:107673400-107727800	Weak transcription	Primary B cells from cord blood	blood
2	chr11:107696600-107711000	Weak transcription	Primary B cells from peripheral blood	blood
3	chr11:107705200-107718600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr11:107706600-107711000	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr11:107706800-107711000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr11:107706800-107711400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr11:107707400-107711000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr11:107707400-107711000	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr11:107707600-107711000	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr11:107707600-107711600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr11:107709400-107713400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr11:107709600-107712600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr11:107710000-107711400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr11:107710000-107712600	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr11:107710200-107711000	Enhancers	Primary hematopoietic stem cells short term culture	blood
16	chr11:107710200-107711200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr11:107710400-107711000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr11:107710400-107711000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr11:107710400-107711000	Enhancers	Brain Cingulate Gyrus	brain
20	chr11:107710400-107711000	Enhancers	Colonic Mucosa	Colon
21	chr11:107710400-107711000	Enhancers	K562	blood
22	chr11:107710400-107711600	Enhancers	Small Intestine	intestine
23	chr11:107710400-107712200	Enhancers	Esophagus	oesophagus
24	chr11:107710400-107712400	Enhancers	Lung	lung
25	chr11:107710400-107713600	Enhancers	Primary monocytes fromperipheralblood	blood
26	chr11:107710600-107711000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
27	chr11:107710600-107711000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
28	chr11:107710600-107711000	Enhancers	Brain Anterior Caudate	brain
29	chr11:107710600-107711000	Enhancers	Brain Hippocampus Middle	brain
30	chr11:107710600-107711000	Enhancers	Brain Inferior Temporal Lobe	brain
31	chr11:107710600-107711000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
32	chr11:107710600-107711000	Enhancers	NHLF	lung
33	chr11:107710600-107711200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr11:107710600-107711200	Enhancers	Rectal Mucosa Donor 29	rectum
35	chr11:107710600-107711400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr11:107710600-107711400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr11:107710600-107711400	Flanking Active TSS	A549	lung
38	chr11:107710600-107711400	Flanking Active TSS	GM12878-XiMat	blood
39	chr11:107710600-107711400	Flanking Active TSS	Hela-S3	cervix
40	chr11:107710600-107711400	Flanking Active TSS	HMEC	breast
41	chr11:107710600-107711600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
42	chr11:107710600-107711600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr11:107710600-107711600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr11:107710600-107712000	Enhancers	ES-I3 Cell Line	embryonic stem cell
45	chr11:107710600-107712000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
46	chr11:107710600-107712000	Enhancers	Cortex derived primary cultured neurospheres	brain
47	chr11:107710600-107712000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr11:107710600-107712000	Enhancers	Placenta Amnion	Placenta Amnion
49	chr11:107710600-107712000	Flanking Active TSS	HUVEC	blood vessel
50	chr11:107710600-107712000	Flanking Active TSS	NHEK	skin

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