Variant report

Variant	rs482320
Chromosome Location	chr11:65135413-65135414
allele	A/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:65116402..65157784-chr11:65261420..65278410,154	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TIGD3-1	chr11:65135398-65135514	ENSG00000255478.1

Variant related genes	Relation type
ENSG00000270117	Chromatin interaction
ENSG00000251562	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 7 )

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

rs_ID	r²[population]
rs1018853	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs739390	1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv526181	chr11:64638041-65257329	Flanking Active TSS Enhancers Strong transcription Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1539 gene(s)	inside rSNPs	diseases
2	esv2422285	chr11:65013294-65254540	Genic enhancers Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	474 gene(s)	inside rSNPs	diseases
3	nsv897715	chr11:65083491-65427346	Enhancers Genic enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	984 gene(s)	inside rSNPs	diseases
4	nsv897716	chr11:65083491-65481166	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	999 gene(s)	inside rSNPs	diseases
5	nsv541065	chr11:65117387-65271894	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	835 gene(s)	inside rSNPs	diseases

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs482320	DAGLA	cis	parietal	SCAN
rs482320	HRASLS5	cis	parietal	SCAN
rs482320	SF1	cis	cerebellum	SCAN
rs482320	RHOD	cis	parietal	SCAN
rs482320	ADRBK1	cis	cerebellum	SCAN
rs482320	RAD9A	cis	parietal	SCAN
rs482320	NUDT8	cis	parietal	SCAN

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:65123400-65143600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr11:65123600-65143800	Weak transcription	Thymus	Thymus
3	chr11:65127200-65141400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr11:65127200-65143800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr11:65127600-65139200	Weak transcription	Left Ventricle	heart
6	chr11:65130400-65142600	Weak transcription	Primary T cells from cord blood	blood
7	chr11:65131400-65138600	Weak transcription	Monocytes-CD14+_RO01746	blood
8	chr11:65132000-65140800	Weak transcription	Primary neutrophils fromperipheralblood	blood
9	chr11:65133400-65135600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
10	chr11:65133400-65137000	Enhancers	Fetal Intestine Large	intestine
11	chr11:65134200-65137600	Weak transcription	Right Ventricle	heart
12	chr11:65134200-65138200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr11:65134200-65138200	Weak transcription	Osteobl	bone
14	chr11:65134200-65138400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr11:65134200-65138600	Weak transcription	Primary monocytes fromperipheralblood	blood
16	chr11:65134200-65144400	Weak transcription	Primary B cells from cord blood	blood
17	chr11:65134200-65144600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr11:65134200-65144800	Weak transcription	Spleen	Spleen
19	chr11:65134200-65145400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
20	chr11:65134200-65146400	Weak transcription	Primary T helper cells fromperipheralblood	blood
21	chr11:65134200-65147200	Weak transcription	Fetal Thymus	thymus
22	chr11:65134200-65149200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr11:65134400-65136400	Weak transcription	Pancreas	Pancrea
24	chr11:65134400-65138400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr11:65134400-65138400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr11:65134400-65138400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr11:65134400-65138400	Weak transcription	NHDF-Ad	bronchial
28	chr11:65134400-65138600	Weak transcription	GM12878-XiMat	blood
29	chr11:65134400-65138600	Weak transcription	NHEK	skin
30	chr11:65134400-65142400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr11:65134400-65142400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr11:65134400-65144800	Weak transcription	Primary hematopoietic stem cells	blood
33	chr11:65134400-65145400	Weak transcription	Placenta	Placenta
34	chr11:65134400-65149400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr11:65134600-65135600	Enhancers	Fetal Intestine Small	intestine
36	chr11:65134600-65136400	Weak transcription	Stomach Mucosa	stomach
37	chr11:65134600-65137600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr11:65134600-65137600	Weak transcription	Gastric	stomach
39	chr11:65134600-65137600	Weak transcription	Psoas Muscle	Psoas
40	chr11:65134600-65137600	Weak transcription	Hela-S3	cervix
41	chr11:65134600-65138000	Weak transcription	Skeletal Muscle Male	skeletal muscle
42	chr11:65134600-65138200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr11:65134600-65138200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr11:65134600-65138400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr11:65134600-65138400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr11:65134600-65138600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr11:65134600-65138600	Weak transcription	Liver	Liver
48	chr11:65134600-65142600	Weak transcription	Primary B cells from peripheral blood	blood
49	chr11:65134600-65145200	Weak transcription	Rectal Mucosa Donor 29	rectum
50	chr11:65134800-65137600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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