Variant report

Variant	rs2956983
Chromosome Location	chr11:57444970-57444971
allele	C/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	chr11:57444784-57445066	HepG2	liver:	n/a	n/a
2	POLR2A	chr11:57444949-57445377	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:57443477..57445731-chr11:57445996..57448963,3	K562	blood:

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

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10160797	1.00[AMR][1000 genomes]
rs12282980	1.00[AMR][1000 genomes]
rs1941721	0.89[AFR][1000 genomes]
rs2911725	0.89[AFR][1000 genomes]
rs2926660	0.89[AFR][1000 genomes]
rs2926663	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2956980	0.90[AFR][1000 genomes]
rs2956984	0.82[AFR][1000 genomes]
rs2969941	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2969942	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2969945	0.89[AFR][1000 genomes]
rs3016261	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3016262	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3016263	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3016264	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3016293	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs600251	0.89[AFR][1000 genomes]
rs603420	0.89[AFR][1000 genomes]
rs610801	0.89[AFR][1000 genomes]
rs621683	0.85[AFR][1000 genomes]
rs621731	0.85[AFR][1000 genomes]
rs635536	0.85[AFR][1000 genomes]
rs660400	0.89[AFR][1000 genomes]
rs682785	0.85[AFR][1000 genomes]
rs686303	0.84[AFR][1000 genomes]
rs7127878	1.00[AMR][1000 genomes]
rs7939745	1.00[AMR][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

No data

Chromatin state (count:126 , 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	chr11:57437800-57447400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr11:57438400-57445400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr11:57438400-57445800	Strong transcription	Fetal Intestine Large	intestine
7	chr11:57438600-57464600	Strong transcription	Fetal Brain Female	brain
8	chr11:57438600-57469400	Strong transcription	Rectal Mucosa Donor 29	rectum
9	chr11:57438600-57478200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr11:57438800-57448000	Strong transcription	Primary B cells from peripheral blood	blood
11	chr11:57438800-57449600	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
12	chr11:57438800-57464600	Strong transcription	Monocytes-CD14+_RO01746	blood
13	chr11:57438800-57469600	Strong transcription	Primary monocytes fromperipheralblood	blood
14	chr11:57438800-57473800	Strong transcription	Fetal Muscle Trunk	muscle
15	chr11:57439000-57445800	Strong transcription	Rectal Mucosa Donor 31	rectum
16	chr11:57439000-57447600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr11:57439000-57469400	Strong transcription	Cortex derived primary cultured neurospheres	brain
18	chr11:57439000-57473400	Strong transcription	Fetal Thymus	thymus
19	chr11:57439000-57477400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr11:57439200-57445600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr11:57439200-57445600	Genic enhancers	Primary T helper cells fromperipheralblood	blood
22	chr11:57439200-57445800	Strong transcription	Left Ventricle	heart
23	chr11:57439200-57446400	Strong transcription	Adipose Nuclei	Adipose
24	chr11:57439200-57447000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr11:57439200-57451400	Strong transcription	Primary B cells from cord blood	blood
26	chr11:57439200-57464600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr11:57439200-57469600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
28	chr11:57439400-57445600	Genic enhancers	Primary T helper cells PMA-I stimulated	--
29	chr11:57439400-57445600	Strong transcription	Osteobl	bone
30	chr11:57439400-57447000	Strong transcription	HSMM	muscle
31	chr11:57439400-57457400	Strong transcription	Thymus	Thymus
32	chr11:57439400-57473000	Strong transcription	Placenta	Placenta
33	chr11:57439600-57445600	Strong transcription	Sigmoid Colon	Sigmoid Colon
34	chr11:57439600-57447000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr11:57439800-57449000	Strong transcription	Stomach Smooth Muscle	stomach
36	chr11:57439800-57473400	Strong transcription	Fetal Muscle Leg	muscle
37	chr11:57440000-57447800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr11:57440600-57457200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
39	chr11:57440800-57445200	Weak transcription	Right Ventricle	heart
40	chr11:57440800-57445600	Strong transcription	Lung	lung
41	chr11:57440800-57446800	Weak transcription	Esophagus	oesophagus
42	chr11:57440800-57446800	Weak transcription	Gastric	stomach
43	chr11:57440800-57446800	Weak transcription	Pancreas	Pancrea
44	chr11:57440800-57447000	Weak transcription	Skeletal Muscle Male	skeletal muscle
45	chr11:57440800-57448800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
46	chr11:57440800-57454800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr11:57440800-57456000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr11:57441000-57449600	Weak transcription	H1 Cell Line	embryonic stem cell
49	chr11:57441000-57457200	Weak transcription	Pancreatic Islets	Pancreatic Islet
50	chr11:57441200-57445000	Weak transcription	Ovary	ovary

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