Variant report

Variant	rs667823
Chromosome Location	chr11:65139539-65139540
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:65120200..65124762-chr11:65137266..65140322,4	K562	blood:
2	chr11:65138209..65140273-chr11:65239128..65241917,2	K562	blood:
3	chr11:65133831..65136816-chr11:65137067..65139974,2	MCF-7	breast:
4	chr11:65116402..65157784-chr11:65261420..65278410,154	K562	blood:
5	chr11:65138857..65141367-chr11:65340258..65342682,2	MCF-7	breast:
6	chr11:65138777..65141420-chr11:65380954..65382714,2	MCF-7	breast:
7	chr11:65139051..65140721-chr11:65308091..65310805,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000173327	Chromatin interaction
ENSG00000168056	Chromatin interaction
ENSG00000251562	Chromatin interaction
ENSG00000270117	Chromatin interaction
ENSG00000173825	Chromatin interaction
ENSG00000255478	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11603934	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs551523	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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
6	esv1829999	chr11:65136686-65343124	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	963 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:59 , 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	chr11:65130400-65142600	Weak transcription	Primary T cells from cord blood	blood
6	chr11:65132000-65140800	Weak transcription	Primary neutrophils fromperipheralblood	blood
7	chr11:65134200-65144400	Weak transcription	Primary B cells from cord blood	blood
8	chr11:65134200-65144600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr11:65134200-65144800	Weak transcription	Spleen	Spleen
10	chr11:65134200-65145400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
11	chr11:65134200-65146400	Weak transcription	Primary T helper cells fromperipheralblood	blood
12	chr11:65134200-65147200	Weak transcription	Fetal Thymus	thymus
13	chr11:65134200-65149200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr11:65134400-65142400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr11:65134400-65142400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr11:65134400-65144800	Weak transcription	Primary hematopoietic stem cells	blood
17	chr11:65134400-65145400	Weak transcription	Placenta	Placenta
18	chr11:65134400-65149400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr11:65134600-65142600	Weak transcription	Primary B cells from peripheral blood	blood
20	chr11:65134600-65145200	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr11:65135600-65147400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr11:65136800-65142000	Weak transcription	Duodenum Mucosa	Duodenum
23	chr11:65137800-65139600	Enhancers	Fetal Muscle Trunk	muscle
24	chr11:65137800-65140000	Enhancers	HSMM	muscle
25	chr11:65138000-65140400	Enhancers	Fetal Muscle Leg	muscle
26	chr11:65138200-65139600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr11:65138200-65139800	Enhancers	Fetal Intestine Large	intestine
28	chr11:65138200-65140000	Enhancers	Stomach Mucosa	stomach
29	chr11:65138200-65140400	Enhancers	Fetal Heart	heart
30	chr11:65138200-65146200	Weak transcription	Stomach Smooth Muscle	stomach
31	chr11:65138600-65140000	Enhancers	Liver	Liver
32	chr11:65138600-65143200	Enhancers	Skeletal Muscle Female	skeletal muscle
33	chr11:65138600-65143800	Weak transcription	Gastric	stomach
34	chr11:65138800-65139800	Weak transcription	Pancreas	Pancrea
35	chr11:65138800-65144200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr11:65138800-65147200	Weak transcription	Lung	lung
37	chr11:65138800-65147600	Weak transcription	Right Ventricle	heart
38	chr11:65138800-65149400	Weak transcription	Aorta	Aorta
39	chr11:65139000-65140400	Enhancers	Hela-S3	cervix
40	chr11:65139000-65140400	Enhancers	HepG2	liver
41	chr11:65139000-65141200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr11:65139000-65142600	Enhancers	Skeletal Muscle Male	skeletal muscle
43	chr11:65139000-65145000	Weak transcription	GM12878-XiMat	blood
44	chr11:65139200-65140000	Enhancers	Left Ventricle	heart
45	chr11:65139200-65142400	Weak transcription	Rectal Mucosa Donor 31	rectum
46	chr11:65139200-65142400	Weak transcription	HMEC	breast
47	chr11:65139200-65142400	Weak transcription	NHEK	skin
48	chr11:65139200-65142800	Weak transcription	A549	lung
49	chr11:65139200-65145000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr11:65139200-65145600	Weak transcription	Primary T cells fromperipheralblood	blood

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