Variant report

Variant	rs2511988
Chromosome Location	chr11:57379170-57379171
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:57371659..57373885-chr11:57378714..57380876,2	K562	blood:

Variant related genes	Relation type
ENSG00000149131	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs1005510	0.92[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];1.00[MEX][hapmap];0.98[TSI][hapmap];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1005511	1.00[ASW][hapmap];0.92[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];0.98[TSI][hapmap];0.89[YRI][hapmap];0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12793139	0.81[CHB][hapmap]
rs1812005	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2244169	0.86[JPT][hapmap]
rs2432810	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2508439	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2508442	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2509897	0.82[JPT][hapmap]
rs2511985	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2511989	0.82[LWK][hapmap]
rs2511990	0.86[JPT][hapmap]
rs2511997	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2729376	0.86[JPT][hapmap]
rs517638	0.82[JPT][hapmap]

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:4)

SNP	Gene	Cis/trans	Tissue	Source
rs2511988	MED19	Cis_1M	lymphoblastoid	RTeQTL
rs2511988	MED19	cis	cerebellum	SCAN
rs2511988	YPEL4	cis	lymphoblastoid	seeQTL
rs2511988	OR6Q1	cis	cerebellum	SCAN

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:57366400-57381800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr11:57366400-57385800	Weak transcription	Esophagus	oesophagus
3	chr11:57366600-57382600	Weak transcription	Brain Substantia Nigra	brain
4	chr11:57366600-57384400	Weak transcription	Pancreas	Pancrea
5	chr11:57366800-57380800	Weak transcription	Brain Anterior Caudate	brain
6	chr11:57366800-57381600	Weak transcription	Rectal Smooth Muscle	rectum
7	chr11:57366800-57381600	Weak transcription	Osteobl	bone
8	chr11:57366800-57386600	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr11:57366800-57388800	Weak transcription	Brain Cingulate Gyrus	brain
10	chr11:57367000-57387400	Weak transcription	NHDF-Ad	bronchial
11	chr11:57367200-57379200	Weak transcription	Fetal Intestine Large	intestine
12	chr11:57367200-57380600	Weak transcription	Fetal Brain Male	brain
13	chr11:57367200-57380600	Weak transcription	Fetal Kidney	kidney
14	chr11:57367400-57381600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr11:57369000-57385200	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr11:57369800-57383400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr11:57369800-57383400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr11:57370000-57385200	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr11:57372000-57379200	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr11:57372200-57384600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
21	chr11:57372600-57384400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr11:57372800-57382600	Weak transcription	Fetal Thymus	thymus
23	chr11:57372800-57383200	Strong transcription	Fetal Muscle Leg	muscle
24	chr11:57372800-57386600	Weak transcription	Primary hematopoietic stem cells	blood
25	chr11:57373000-57383000	Strong transcription	Ovary	ovary
26	chr11:57373000-57383200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr11:57373200-57384400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr11:57373200-57384400	Strong transcription	Fetal Lung	lung
29	chr11:57373800-57380600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr11:57373800-57383400	Weak transcription	NHLF	lung
31	chr11:57373800-57391600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr11:57374000-57380800	Weak transcription	Small Intestine	intestine
33	chr11:57374000-57386000	Weak transcription	Rectal Mucosa Donor 29	rectum
34	chr11:57374400-57384200	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr11:57374600-57380600	Weak transcription	Brain Hippocampus Middle	brain
36	chr11:57374600-57381200	Weak transcription	Skeletal Muscle Female	skeletal muscle
37	chr11:57375000-57380600	Weak transcription	Fetal Brain Female	brain
38	chr11:57375000-57381000	Weak transcription	HUES6 Cell Line	embryonic stem cell
39	chr11:57375000-57381000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr11:57375200-57379200	Weak transcription	Placenta Amnion	Placenta Amnion
41	chr11:57375200-57380600	Weak transcription	Brain Angular Gyrus	brain
42	chr11:57377000-57383200	Strong transcription	Duodenum Smooth Muscle	Duodenum
43	chr11:57377200-57383200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr11:57377200-57384000	Genic enhancers	Liver	Liver
45	chr11:57377200-57384400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr11:57377200-57384400	Strong transcription	Adipose Nuclei	Adipose
47	chr11:57377200-57384800	Weak transcription	Psoas Muscle	Psoas
48	chr11:57377400-57383200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr11:57377400-57383200	Strong transcription	Colon Smooth Muscle	Colon
50	chr11:57377400-57384600	Strong transcription	Fetal Muscle Trunk	muscle

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