Variant report

Variant	rs11828443
Chromosome Location	chr11:33628437-33628438
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11828494	0.82[ASW][hapmap];0.82[LWK][hapmap];1.00[MEX][hapmap];0.83[YRI][hapmap]
rs12291756	1.00[MEX][hapmap]
rs16924435	1.00[TSI][hapmap]
rs16924441	1.00[TSI][hapmap]
rs16924442	1.00[TSI][hapmap]
rs56247905	1.00[EUR][1000 genomes]
rs6484659	1.00[MEX][hapmap]
rs7115000	1.00[MEX][hapmap];1.00[TSI][hapmap]
rs7118012	1.00[TSI][hapmap]
rs7121697	1.00[MEX][hapmap]
rs7945032	1.00[MEX][hapmap];1.00[TSI][hapmap]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	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
7	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
8	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
9	nsv832113	chr11:33609202-33767781	Transcr. at gene 5' and 3' Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
10	nsv825821	chr11:33628273-33628798	Weak transcription Enhancers Strong transcription	n/a	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11828443	TCP11L1	cis	lymphoblastoid	seeQTL

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:33594600-33644000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr11:33605800-33642400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr11:33606600-33642000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr11:33615800-33635400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr11:33616400-33631400	Weak transcription	NH-A	brain
6	chr11:33619400-33639000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr11:33620200-33640200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr11:33620800-33629600	Weak transcription	Brain Germinal Matrix	brain
9	chr11:33620800-33631400	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr11:33620800-33632200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr11:33620800-33639200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr11:33621400-33637400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr11:33622600-33630600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr11:33626800-33633800	Strong transcription	Fetal Brain Female	brain
15	chr11:33627200-33643400	Weak transcription	HSMMtube	muscle
16	chr11:33627800-33628800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr11:33627800-33629000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr11:33627800-33629200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr11:33628000-33628800	Enhancers	NHEK	skin
20	chr11:33628000-33633800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr11:33628200-33628800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr11:33628200-33628800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr11:33628200-33628800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr11:33628200-33628800	Enhancers	HMEC	breast

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