Variant report

Variant	rs474479
Chromosome Location	chr11:85828551-85828552
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:85827653..85830029-chr11:85842265..85844324,3	K562	blood:
2	chr11:85827660..85829775-chr11:85890965..85893540,2	K562	blood:
3	chr11:85816871..85820639-chr11:85825942..85829677,4	K562	blood:
4	chr11:85828022..85829575-chr11:85954011..85956360,2	K562	blood:
5	chr11:85826255..85828597-chr11:85834380..85836408,2	K562	blood:
6	chr11:85827002..85832130-chr11:85832527..85838500,7	MCF-7	breast:
7	chr11:85827592..85829665-chr11:85832093..85833699,2	K562	blood:
8	chr11:85828354..85830136-chr11:85831777..85833515,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000074266	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10792830	0.90[ASN][1000 genomes]
rs10792832	0.84[ASN][1000 genomes]
rs1237999	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3851178	0.80[ASN][1000 genomes]
rs3851179	0.84[ASN][1000 genomes]
rs471470	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs472486	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4944560	0.85[ASN][1000 genomes]
rs497816	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs519961	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs526904	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs542126	0.90[ASN][1000 genomes]
rs543293	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs566975	0.89[ASN][1000 genomes]
rs572979	0.81[ASN][1000 genomes]
rs573167	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs580887	0.94[ASN][1000 genomes]
rs583162	0.90[ASN][1000 genomes]
rs586274	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs629343	0.90[ASN][1000 genomes]
rs631611	0.94[ASN][1000 genomes]
rs645293	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs659023	0.90[ASN][1000 genomes]
rs7110631	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7114331	0.89[ASN][1000 genomes]
rs7114401	0.94[ASN][1000 genomes]
rs7941541	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][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	nsv1050948	chr11:85756325-85968665	Active TSS Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
2	nsv541117	chr11:85756325-85968665	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:85824800-85837600	Weak transcription	Brain Angular Gyrus	brain
2	chr11:85826200-85829800	Enhancers	K562	blood
3	chr11:85826400-85830400	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr11:85826600-85828600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr11:85826600-85828600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr11:85826600-85829000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr11:85826600-85829000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
8	chr11:85826600-85829000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
9	chr11:85826800-85828600	Enhancers	Colon Smooth Muscle	Colon
10	chr11:85826800-85830000	Enhancers	Stomach Smooth Muscle	stomach
11	chr11:85827000-85828600	Enhancers	HSMM	muscle
12	chr11:85827000-85828800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
13	chr11:85827000-85828800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
14	chr11:85827000-85829000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
15	chr11:85827200-85828600	Flanking Active TSS	A549	lung
16	chr11:85827200-85828600	Flanking Active TSS	Osteobl	bone
17	chr11:85827400-85829600	Enhancers	Fetal Intestine Large	intestine
18	chr11:85827400-85830600	Enhancers	Rectal Smooth Muscle	rectum
19	chr11:85827400-85832800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr11:85827600-85828600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr11:85827600-85828800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr11:85827600-85828800	Weak transcription	HepG2	liver
23	chr11:85827600-85829000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr11:85827600-85829400	Weak transcription	Brain Anterior Caudate	brain
25	chr11:85827800-85829000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr11:85827800-85829200	Enhancers	Primary neutrophils fromperipheralblood	blood
27	chr11:85827800-85829200	Enhancers	HMEC	breast
28	chr11:85827800-85829200	Enhancers	Monocytes-CD14+_RO01746	blood
29	chr11:85828000-85828600	Weak transcription	Duodenum Mucosa	Duodenum
30	chr11:85828000-85829000	Enhancers	Primary monocytes fromperipheralblood	blood
31	chr11:85828000-85829000	Enhancers	Muscle Satellite Cultured Cells	--
32	chr11:85828000-85829200	Enhancers	NHEK	skin
33	chr11:85828000-85829600	Enhancers	Fetal Intestine Small	intestine
34	chr11:85828000-85834200	Weak transcription	Duodenum Smooth Muscle	Duodenum
35	chr11:85828200-85828600	Enhancers	Brain Substantia Nigra	brain
36	chr11:85828200-85830400	Enhancers	NH-A	brain
37	chr11:85828400-85828600	Enhancers	Placenta	Placenta
38	chr11:85828400-85829000	Enhancers	GM12878-XiMat	blood
39	chr11:85828400-85829400	Weak transcription	Pancreatic Islets	Pancreatic Islet
40	chr11:85828400-85829400	Weak transcription	Small Intestine	intestine

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