Variant report

Variant	rs1005511
Chromosome Location	chr11:57366656-57366657
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	chr11:57363269..57366608-chr11:57366625..57370345,5	K562	blood:

Variant related genes	Relation type
ENSG00000149131	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs1005510	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.87[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.83[YRI][hapmap];0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12793139	0.81[CHB][hapmap]
rs1812005	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2244169	0.86[JPT][hapmap]
rs2432810	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2508439	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2508442	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2509897	0.82[JPT][hapmap]
rs2511985	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2511988	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]
rs2511990	0.86[JPT][hapmap]
rs2511997	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2729376	0.86[JPT][hapmap]
rs517638	0.82[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 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
6	nsv897588	chr11:57364381-57373478	Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs1005511	GATA6	trans	cerebellum	SCAN
rs1005511	MED19	cis	cerebellum	SCAN
rs1005511	YPEL4	cis	lymphoblastoid	seeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:57364400-57366800	Active TSS	Duodenum Smooth Muscle	Duodenum
2	chr11:57364600-57366800	Active TSS	Aorta	Aorta
3	chr11:57364600-57366800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
4	chr11:57364600-57366800	Flanking Active TSS	Fetal Muscle Leg	muscle
5	chr11:57364600-57366800	Active TSS	Ovary	ovary
6	chr11:57364800-57366800	Active TSS	Right Atrium	heart
7	chr11:57364800-57366800	Active TSS	Right Ventricle	heart
8	chr11:57365000-57366800	Active TSS	Breast Myoepithelial Primary Cells	Breast
9	chr11:57365000-57367200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr11:57365000-57367200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr11:57365200-57369000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr11:57365600-57366800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr11:57365800-57366800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr11:57365800-57366800	Bivalent/Poised TSS	Primary B cells from cord blood	blood
15	chr11:57365800-57366800	Flanking Active TSS	Adipose Nuclei	Adipose
16	chr11:57365800-57366800	Flanking Active TSS	Fetal Brain Male	brain
17	chr11:57365800-57367000	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr11:57365800-57367000	Flanking Active TSS	NHLF	lung
19	chr11:57365800-57367200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr11:57366000-57366800	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
21	chr11:57366000-57366800	Flanking Active TSS	H1 Cell Line	embryonic stem cell
22	chr11:57366000-57366800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
23	chr11:57366000-57366800	Enhancers	Fetal Thymus	thymus
24	chr11:57366000-57366800	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
25	chr11:57366000-57366800	Flanking Active TSS	Rectal Smooth Muscle	rectum
26	chr11:57366000-57366800	Flanking Active TSS	NHDF-Ad	bronchial
27	chr11:57366000-57366800	Flanking Active TSS	Osteobl	bone
28	chr11:57366000-57367000	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
29	chr11:57366000-57367000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr11:57366000-57367200	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
31	chr11:57366000-57367200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr11:57366000-57367200	Flanking Active TSS	Fetal Kidney	kidney
33	chr11:57366200-57366800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
34	chr11:57366200-57366800	Bivalent Enhancer	Muscle Satellite Cultured Cells	--
35	chr11:57366200-57366800	Flanking Active TSS	Colon Smooth Muscle	Colon
36	chr11:57366200-57366800	Flanking Active TSS	Fetal Stomach	stomach
37	chr11:57366200-57367000	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr11:57366200-57367000	Flanking Active TSS	Brain Germinal Matrix	brain
39	chr11:57366200-57367000	Flanking Active TSS	Fetal Brain Female	brain
40	chr11:57366200-57367000	Bivalent Enhancer	Fetal Heart	heart
41	chr11:57366200-57367000	Flanking Active TSS	Fetal Lung	lung
42	chr11:57366200-57367000	Enhancers	Placenta Amnion	Placenta Amnion
43	chr11:57366200-57367200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr11:57366200-57367200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr11:57366200-57379000	Weak transcription	Gastric	stomach
46	chr11:57366400-57366800	Active TSS	Primary hematopoietic stem cells	blood
47	chr11:57366400-57366800	Active TSS	Brain Hippocampus Middle	brain
48	chr11:57366400-57366800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
49	chr11:57366400-57366800	Active TSS	Fetal Muscle Trunk	muscle
50	chr11:57366400-57366800	Bivalent/Poised TSS	Rectal Mucosa Donor 31	rectum

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