Variant report

Variant	rs1883916
Chromosome Location	chr11:33578510-33578511
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs2076623	0.85[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap]
rs2076627	0.81[CHB][hapmap];0.85[CHD][hapmap];0.90[JPT][hapmap];0.84[ASN][1000 genomes]
rs2092617	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2746547	0.85[ASN][1000 genomes]
rs4755192	0.85[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs6484657	0.85[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs730729	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7479704	0.85[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs7929102	0.90[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2762904	chr11:32969258-33586535	Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
2	nsv533840	chr11:33008192-33595324	Bivalent Enhancer Strong transcription Genic enhancers Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
3	nsv1044478	chr11:33008435-33656273	Enhancers Strong transcription Flanking Active TSS Genic enhancers Weak transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
4	nsv1050944	chr11:33043155-33656273	Flanking Active TSS Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
5	nsv540993	chr11:33043155-33656273	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
6	nsv529212	chr11:33053073-33641691	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
7	nsv869418	chr11:33053073-33662479	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
8	nsv521130	chr11:33068389-33602913	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
9	nsv1041680	chr11:33249367-33637249	Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
10	nsv540997	chr11:33249367-33637249	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
11	nsv832112	chr11:33469782-33683052	Enhancers Strong transcription Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1883916	HIPK3	cis	parietal	SCAN

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:33555200-33617600	Weak transcription	Fetal Brain Male	brain
2	chr11:33563200-33585200	Weak transcription	Brain Angular Gyrus	brain
3	chr11:33564800-33585000	Weak transcription	Brain Anterior Caudate	brain
4	chr11:33565200-33583600	Weak transcription	Brain Cingulate Gyrus	brain
5	chr11:33566800-33581000	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr11:33567000-33579800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr11:33567000-33581000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr11:33568200-33606600	Weak transcription	HUVEC	blood vessel
9	chr11:33568400-33578600	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr11:33569600-33578800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr11:33569800-33605000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr11:33571400-33581000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr11:33573000-33578600	Weak transcription	HSMMtube	muscle
14	chr11:33574000-33578800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr11:33574600-33581000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr11:33575200-33578600	Weak transcription	HSMM	muscle
17	chr11:33575400-33589000	Weak transcription	Brain Germinal Matrix	brain
18	chr11:33575600-33579600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr11:33575800-33581200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr11:33576400-33579000	Weak transcription	NH-A	brain
21	chr11:33578000-33579800	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr11:33578000-33586000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr11:33578200-33580000	Enhancers	NHEK	skin
24	chr11:33578200-33580200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr11:33578200-33580200	Enhancers	HMEC	breast
26	chr11:33578400-33578600	Enhancers	Breast Myoepithelial Primary Cells	Breast
27	chr11:33578400-33579400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr11:33578400-33579400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr11:33578400-33579400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr11:33578400-33579600	Enhancers	Osteobl	bone
31	chr11:33578400-33580000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr11:33578400-33580000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr11:33578400-33580000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr11:33578400-33580200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr11:33578400-33580200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr11:33578400-33580200	Enhancers	Placenta	Placenta
37	chr11:33578400-33581000	Weak transcription	Fetal Brain Female	brain

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