Variant report

Variant	rs2512374
Chromosome Location	chr11:86753511-86753512
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1031584	0.81[ASN][1000 genomes]
rs11234939	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11234951	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1378878	0.90[AMR][1000 genomes]
rs1531145	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1545600	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2374995	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2445534	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2445536	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2445571	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2445572	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2445574	0.83[AMR][1000 genomes]
rs2512360	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2512362	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2512375	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2512376	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2512377	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2512378	0.83[AMR][1000 genomes]
rs2512398	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2512503	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2513211	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2513232	0.90[AMR][1000 genomes]
rs2513235	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2513237	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2513238	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3100849	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3100851	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3133315	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4514445	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4944661	0.84[ASN][1000 genomes]
rs717722	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs717723	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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

No data

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:86749600-86754200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr11:86749600-86758200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr11:86749600-86766800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr11:86749800-86753800	Weak transcription	Fetal Muscle Trunk	muscle
5	chr11:86750000-86756400	Weak transcription	Primary B cells from cord blood	blood
6	chr11:86750000-86765800	Weak transcription	Placenta	Placenta
7	chr11:86750400-86754000	Weak transcription	Fetal Stomach	stomach
8	chr11:86750400-86760600	Weak transcription	Monocytes-CD14+_RO01746	blood
9	chr11:86750600-86754800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr11:86750600-86755400	Weak transcription	Primary monocytes fromperipheralblood	blood
11	chr11:86750600-86755600	Weak transcription	Fetal Intestine Small	intestine
12	chr11:86750600-86755600	Weak transcription	Right Ventricle	heart
13	chr11:86750600-86756400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr11:86750600-86757600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr11:86750600-86757800	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr11:86750600-86757800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr11:86750600-86757800	Weak transcription	Fetal Intestine Large	intestine
18	chr11:86750600-86759800	Weak transcription	Fetal Thymus	thymus
19	chr11:86750600-86760600	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr11:86750800-86754000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr11:86750800-86754200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr11:86750800-86755000	Weak transcription	NHEK	skin
23	chr11:86750800-86757200	Weak transcription	Fetal Muscle Leg	muscle
24	chr11:86750800-86757800	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr11:86750800-86758600	Weak transcription	HSMM	muscle
26	chr11:86750800-86759800	Weak transcription	HSMMtube	muscle
27	chr11:86750800-86760000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
28	chr11:86750800-86760200	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr11:86750800-86780600	Weak transcription	Primary T helper cells fromperipheralblood	blood
30	chr11:86750800-86782000	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr11:86750800-86787400	Weak transcription	A549	lung
32	chr11:86751000-86754400	Weak transcription	Brain Germinal Matrix	brain
33	chr11:86751000-86754800	Weak transcription	Primary T cells from cord blood	blood
34	chr11:86751000-86755000	Weak transcription	Cortex derived primary cultured neurospheres	brain
35	chr11:86751000-86755400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr11:86751000-86757000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
37	chr11:86751000-86757400	Weak transcription	Stomach Smooth Muscle	stomach
38	chr11:86751000-86760000	Weak transcription	Duodenum Smooth Muscle	Duodenum
39	chr11:86751000-86786800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr11:86751000-86787400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr11:86751200-86754200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr11:86751200-86754800	Weak transcription	HUES6 Cell Line	embryonic stem cell
43	chr11:86751200-86755000	Weak transcription	Rectal Mucosa Donor 31	rectum
44	chr11:86751200-86756200	Weak transcription	Duodenum Mucosa	Duodenum
45	chr11:86751200-86756600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
46	chr11:86751200-86757200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr11:86751200-86762600	Weak transcription	Primary T helper cells PMA-I stimulated	--
48	chr11:86751200-86785600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr11:86751400-86754400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr11:86751400-86756600	Weak transcription	Hela-S3	cervix

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