Variant report

Variant	rs2511985
Chromosome Location	chr11:57384668-57384669
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs1005510	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1005511	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1812005	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2432810	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2508439	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2508442	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2511988	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2511997	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044030	chr11:57073395-58035564	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
2	nsv541047	chr11:57073395-58035564	Active TSS Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
3	nsv530621	chr11:57139699-57703639	Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
4	nsv832163	chr11:57299354-57481050	Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
5	nsv1040913	chr11:57315006-57696122	Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	93 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2511985	MED19	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:57366400-57385800	Weak transcription	Esophagus	oesophagus
2	chr11:57366800-57386600	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr11:57366800-57388800	Weak transcription	Brain Cingulate Gyrus	brain
4	chr11:57367000-57387400	Weak transcription	NHDF-Ad	bronchial
5	chr11:57369000-57385200	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr11:57370000-57385200	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr11:57372800-57386600	Weak transcription	Primary hematopoietic stem cells	blood
8	chr11:57373800-57391600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr11:57374000-57386000	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr11:57377200-57384800	Weak transcription	Psoas Muscle	Psoas
11	chr11:57377600-57387200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr11:57381200-57386200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr11:57381200-57386400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr11:57381600-57386800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr11:57382000-57391800	Weak transcription	Rectal Smooth Muscle	rectum
16	chr11:57382200-57385200	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr11:57382200-57385600	Weak transcription	Gastric	stomach
18	chr11:57382200-57388600	Weak transcription	Brain Anterior Caudate	brain
19	chr11:57382200-57395000	Weak transcription	Right Ventricle	heart
20	chr11:57382400-57385200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr11:57382400-57385600	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr11:57382400-57385800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr11:57382400-57386200	Weak transcription	Spleen	Spleen
24	chr11:57382600-57385200	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr11:57382800-57386800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr11:57382800-57392600	Weak transcription	Brain Germinal Matrix	brain
27	chr11:57383000-57385600	Weak transcription	Ovary	ovary
28	chr11:57383000-57386600	Weak transcription	Placenta	Placenta
29	chr11:57383000-57386800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr11:57383200-57384800	Weak transcription	Fetal Brain Female	brain
31	chr11:57383200-57385000	Weak transcription	Placenta Amnion	Placenta Amnion
32	chr11:57383200-57385800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr11:57383200-57385800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr11:57383200-57385800	Weak transcription	Brain Substantia Nigra	brain
35	chr11:57383200-57386000	Weak transcription	H1 Cell Line	embryonic stem cell
36	chr11:57383200-57386600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr11:57383200-57386600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr11:57383200-57386800	Weak transcription	Fetal Muscle Leg	muscle
39	chr11:57383200-57386800	Weak transcription	Left Ventricle	heart
40	chr11:57383200-57387000	Weak transcription	Duodenum Smooth Muscle	Duodenum
41	chr11:57383200-57387400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr11:57383200-57387600	Weak transcription	Colon Smooth Muscle	Colon
43	chr11:57383200-57390000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr11:57383400-57386000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr11:57383800-57384800	Strong transcription	Aorta	Aorta
46	chr11:57384200-57385600	Weak transcription	Lung	lung
47	chr11:57384400-57385800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr11:57384400-57386000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
49	chr11:57384400-57386000	Weak transcription	Hela-S3	cervix
50	chr11:57384400-57386400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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