Variant report

Variant	rs3133315
Chromosome Location	chr11:86756205-86756206
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs1031584	0.81[ASN][1000 genomes]
rs11234939	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11234951	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1378878	0.88[AMR][1000 genomes]
rs1531145	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1545600	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2374995	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2445534	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2445536	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2445571	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2445572	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2445574	0.81[AMR][1000 genomes]
rs2512360	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2512362	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2512374	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2512375	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2512376	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2512377	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2512378	0.81[AMR][1000 genomes]
rs2512398	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2512503	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2513211	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2513232	0.88[AMR][1000 genomes]
rs2513235	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2513237	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2513238	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3100849	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3100851	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4514445	0.84[ASN][1000 genomes]
rs4944661	0.84[ASN][1000 genomes]
rs717722	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs717723	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044081	chr11:86133641-86868560	Bivalent/Poised TSS Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv541118	chr11:86133641-86868560	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	nsv1037042	chr11:86586876-86978492	Enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv541119	chr11:86586876-86978492	Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
5	esv13345	chr11:86753735-86756555	Weak transcription Strong transcription ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Genic enhancers	n/a	n/a	inside rSNPs	n/a
6	nsv898058	chr11:86754948-86889284	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv898059	chr11:86754948-86949369	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv1043562	chr11:86755535-87547185	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
9	nsv541120	chr11:86755535-87547185	Bivalent Enhancer Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:86749600-86758200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr11:86749600-86766800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr11:86750000-86756400	Weak transcription	Primary B cells from cord blood	blood
4	chr11:86750000-86765800	Weak transcription	Placenta	Placenta
5	chr11:86750400-86760600	Weak transcription	Monocytes-CD14+_RO01746	blood
6	chr11:86750600-86756400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr11:86750600-86757600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr11:86750600-86757800	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr11:86750600-86757800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr11:86750600-86757800	Weak transcription	Fetal Intestine Large	intestine
11	chr11:86750600-86759800	Weak transcription	Fetal Thymus	thymus
12	chr11:86750600-86760600	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr11:86750800-86757200	Weak transcription	Fetal Muscle Leg	muscle
14	chr11:86750800-86757800	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr11:86750800-86758600	Weak transcription	HSMM	muscle
16	chr11:86750800-86759800	Weak transcription	HSMMtube	muscle
17	chr11:86750800-86760000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr11:86750800-86760200	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr11:86750800-86780600	Weak transcription	Primary T helper cells fromperipheralblood	blood
20	chr11:86750800-86782000	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr11:86750800-86787400	Weak transcription	A549	lung
22	chr11:86751000-86757000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
23	chr11:86751000-86757400	Weak transcription	Stomach Smooth Muscle	stomach
24	chr11:86751000-86760000	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr11:86751000-86786800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr11:86751000-86787400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr11:86751200-86756600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
28	chr11:86751200-86757200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr11:86751200-86762600	Weak transcription	Primary T helper cells PMA-I stimulated	--
30	chr11:86751200-86785600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr11:86751400-86756600	Weak transcription	Hela-S3	cervix
32	chr11:86751400-86757400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr11:86751400-86758400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
34	chr11:86751400-86759800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr11:86751400-86767800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
36	chr11:86751400-86786400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr11:86751600-86757000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
38	chr11:86751600-86757400	Weak transcription	Fetal Lung	lung
39	chr11:86751600-86757800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr11:86751600-86787000	Weak transcription	Aorta	Aorta
41	chr11:86752000-86768800	Weak transcription	Ovary	ovary
42	chr11:86752000-86768800	Weak transcription	Psoas Muscle	Psoas
43	chr11:86752200-86756400	Weak transcription	Rectal Smooth Muscle	rectum
44	chr11:86752200-86757600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
45	chr11:86752200-86759800	Weak transcription	Fetal Brain Male	brain
46	chr11:86752200-86768800	Weak transcription	Brain Inferior Temporal Lobe	brain
47	chr11:86752400-86758200	Weak transcription	Brain Cingulate Gyrus	brain
48	chr11:86752400-86762400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr11:86753000-86758000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr11:86753200-86758000	Weak transcription	HUES64 Cell Line	embryonic stem cell

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