Variant report

Variant	rs2512498
Chromosome Location	chr11:86752679-86752680
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:86736816..86738762-chr11:86750724..86753457,2	K562	blood:

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs12270673	0.83[AMR][1000 genomes]
rs2124577	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2124579	0.80[EUR][1000 genomes]
rs2374996	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2445537	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2445538	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2445543	0.82[EUR][1000 genomes]
rs2445552	0.92[AFR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2445564	0.92[AFR][1000 genomes];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2445565	0.83[ASN][1000 genomes]
rs2445570	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2445581	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2451066	0.80[EUR][1000 genomes]
rs2512335	0.80[EUR][1000 genomes]
rs2512364	0.90[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs2512370	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2512371	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2512373	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2512379	0.92[AFR][1000 genomes];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2512392	0.87[ASN][1000 genomes]
rs2512478	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2512486	0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2512502	0.90[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs2513206	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2513208	0.81[EUR][1000 genomes]
rs2513219	0.85[AFR][1000 genomes];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2513220	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2513225	0.81[ASN][1000 genomes]
rs2513234	0.91[ASN][1000 genomes]
rs3740659	0.90[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs7934461	0.83[AMR][1000 genomes]
rs921875	0.83[AMR][1000 genomes]
rs965467	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[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:94 , 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	chr11:86750400-86753000	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr11:86750400-86753200	Enhancers	Brain Substantia Nigra	brain
9	chr11:86750400-86754000	Weak transcription	Fetal Stomach	stomach
10	chr11:86750400-86760600	Weak transcription	Monocytes-CD14+_RO01746	blood
11	chr11:86750600-86752800	Weak transcription	Primary hematopoietic stem cells	blood
12	chr11:86750600-86753200	Weak transcription	Small Intestine	intestine
13	chr11:86750600-86754800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr11:86750600-86755400	Weak transcription	Primary monocytes fromperipheralblood	blood
15	chr11:86750600-86755600	Weak transcription	Fetal Intestine Small	intestine
16	chr11:86750600-86755600	Weak transcription	Right Ventricle	heart
17	chr11:86750600-86756400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr11:86750600-86757600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr11:86750600-86757800	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr11:86750600-86757800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr11:86750600-86757800	Weak transcription	Fetal Intestine Large	intestine
22	chr11:86750600-86759800	Weak transcription	Fetal Thymus	thymus
23	chr11:86750600-86760600	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr11:86750800-86754000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr11:86750800-86754200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr11:86750800-86755000	Weak transcription	NHEK	skin
27	chr11:86750800-86757200	Weak transcription	Fetal Muscle Leg	muscle
28	chr11:86750800-86757800	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr11:86750800-86758600	Weak transcription	HSMM	muscle
30	chr11:86750800-86759800	Weak transcription	HSMMtube	muscle
31	chr11:86750800-86760000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
32	chr11:86750800-86760200	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr11:86750800-86780600	Weak transcription	Primary T helper cells fromperipheralblood	blood
34	chr11:86750800-86782000	Weak transcription	Skeletal Muscle Female	skeletal muscle
35	chr11:86750800-86787400	Weak transcription	A549	lung
36	chr11:86751000-86753000	Enhancers	Colon Smooth Muscle	Colon
37	chr11:86751000-86754400	Weak transcription	Brain Germinal Matrix	brain
38	chr11:86751000-86754800	Weak transcription	Primary T cells from cord blood	blood
39	chr11:86751000-86755000	Weak transcription	Cortex derived primary cultured neurospheres	brain
40	chr11:86751000-86755400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr11:86751000-86757000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
42	chr11:86751000-86757400	Weak transcription	Stomach Smooth Muscle	stomach
43	chr11:86751000-86760000	Weak transcription	Duodenum Smooth Muscle	Duodenum
44	chr11:86751000-86786800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr11:86751000-86787400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr11:86751200-86752800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr11:86751200-86754200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr11:86751200-86754800	Weak transcription	HUES6 Cell Line	embryonic stem cell
49	chr11:86751200-86755000	Weak transcription	Rectal Mucosa Donor 31	rectum
50	chr11:86751200-86756200	Weak transcription	Duodenum Mucosa	Duodenum

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