Variant report

Variant	rs1783819
Chromosome Location	chr11:57447561-57447562
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:57447488-57448042	GM12892	blood:	n/a	n/a
2	POLR2A	chr11:57447388-57448009	GM12892	blood:	n/a	n/a
3	POLR2A	chr11:57446982-57447982	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:57445991..57448030-chr11:57529644..57532545,2	K562	blood:
2	chr11:57438475..57441494-chr11:57446388..57449628,4	K562	blood:

Variant related genes	Relation type
ZDHHC5	TF binding region
ENSG00000198561	Chromatin interaction
ENSG00000156599	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10896648	1.00[CHB][hapmap]
rs1615585	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1647400	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs641321	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs7126553	0.94[CEU][hapmap];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72923981	1.00[ASN][1000 genomes]
rs7929738	0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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	nsv832164	chr11:57407617-57578825	Enhancers Strong transcription Genic enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
7	nsv508633	chr11:57419585-57560045	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs1783819	YPEL4	cis	multi-tissue	Pritchard
rs1783819	CCDC86	cis	cerebellum	SCAN
rs1783819	DDB1	cis	cerebellum	SCAN
rs1783819	CD5	cis	parietal	SCAN

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:57436600-57479000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr11:57437400-57449800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr11:57437400-57458000	Weak transcription	Fetal Heart	heart
4	chr11:57438600-57464600	Strong transcription	Fetal Brain Female	brain
5	chr11:57438600-57469400	Strong transcription	Rectal Mucosa Donor 29	rectum
6	chr11:57438600-57478200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr11:57438800-57448000	Strong transcription	Primary B cells from peripheral blood	blood
8	chr11:57438800-57449600	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
9	chr11:57438800-57464600	Strong transcription	Monocytes-CD14+_RO01746	blood
10	chr11:57438800-57469600	Strong transcription	Primary monocytes fromperipheralblood	blood
11	chr11:57438800-57473800	Strong transcription	Fetal Muscle Trunk	muscle
12	chr11:57439000-57447600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr11:57439000-57469400	Strong transcription	Cortex derived primary cultured neurospheres	brain
14	chr11:57439000-57473400	Strong transcription	Fetal Thymus	thymus
15	chr11:57439000-57477400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr11:57439200-57451400	Strong transcription	Primary B cells from cord blood	blood
17	chr11:57439200-57464600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr11:57439200-57469600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
19	chr11:57439400-57457400	Strong transcription	Thymus	Thymus
20	chr11:57439400-57473000	Strong transcription	Placenta	Placenta
21	chr11:57439800-57449000	Strong transcription	Stomach Smooth Muscle	stomach
22	chr11:57439800-57473400	Strong transcription	Fetal Muscle Leg	muscle
23	chr11:57440000-57447800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr11:57440600-57457200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr11:57440800-57448800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr11:57440800-57454800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr11:57440800-57456000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr11:57441000-57449600	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr11:57441000-57457200	Weak transcription	Pancreatic Islets	Pancreatic Islet
30	chr11:57441200-57450000	Weak transcription	Aorta	Aorta
31	chr11:57441200-57450000	Weak transcription	Brain Angular Gyrus	brain
32	chr11:57441200-57457600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr11:57441200-57460600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr11:57442400-57449800	Weak transcription	Brain Cingulate Gyrus	brain
35	chr11:57442800-57472800	Strong transcription	Primary neutrophils fromperipheralblood	blood
36	chr11:57443200-57448200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr11:57443200-57449800	Weak transcription	HSMMtube	muscle
38	chr11:57443200-57472600	Strong transcription	Duodenum Smooth Muscle	Duodenum
39	chr11:57443600-57449400	Weak transcription	H9 Cell Line	embryonic stem cell
40	chr11:57443600-57458400	Strong transcription	Dnd41	blood
41	chr11:57443800-57449200	Weak transcription	Colonic Mucosa	Colon
42	chr11:57443800-57450400	Strong transcription	Fetal Stomach	stomach
43	chr11:57444000-57449800	Weak transcription	Brain Substantia Nigra	brain
44	chr11:57444200-57451400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr11:57444800-57447800	Strong transcription	Fetal Intestine Small	intestine
46	chr11:57445200-57450200	Strong transcription	Fetal Lung	lung
47	chr11:57445400-57452000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr11:57445400-57454200	Strong transcription	Brain Inferior Temporal Lobe	brain
49	chr11:57445600-57447800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
50	chr11:57445600-57448400	Genic enhancers	Duodenum Mucosa	Duodenum

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