Variant report

Variant	rs921081
Chromosome Location	chr11:18770762-18770763
allele	C/T
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	FOS	chr11:18770671-18771713	HUVEC	blood vessel:	n/a	chr11:18771368-18771378 chr11:18771368-18771377 chr11:18771367-18771378 chr11:18771368-18771378 chr11:18771370-18771381 chr11:18771368-18771378 chr11:18771368-18771378
2	POLR2A	chr11:18770463-18770919	H1-neurons	neurons:	n/a	n/a
3	JUND	chr11:18770258-18771836	SK-N-SH	brain:	n/a	chr11:18771368-18771378 chr11:18771367-18771378 chr11:18771368-18771377 chr11:18770512-18770521 chr11:18771368-18771378 chr11:18771370-18771381 chr11:18771368-18771378 chr11:18771368-18771378
4	POLR2A	chr11:18770477-18770869	H1-neurons	neurons:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:18765546..18768102-chr11:18770359..18772112,2	K562	blood:
2	chr11:18768182..18770334-chr11:18770348..18773584,3	K562	blood:

Variant related genes	Relation type
PTPN5	TF binding region
ENSG00000110786	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs57399169	1.00[AMR][1000 genomes]
rs60804272	1.00[AMR][1000 genomes]

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	nsv553633	chr11:18311701-19058451	Weak transcription Strong transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers 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	144 gene(s)	inside rSNPs	diseases
2	nsv1046886	chr11:18547568-18781448	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
3	nsv540956	chr11:18547568-18781448	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
4	nsv897028	chr11:18714623-18770822	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	nsv525192	chr11:18722791-18793360	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
6	nsv525452	chr11:18735947-18802503	Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Enhancers Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:18748200-18774000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr11:18753600-18771000	Weak transcription	Brain Angular Gyrus	brain
3	chr11:18759600-18774400	Weak transcription	Fetal Brain Female	brain
4	chr11:18760200-18773600	Weak transcription	Brain Germinal Matrix	brain
5	chr11:18764400-18771600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr11:18769800-18771800	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr11:18769800-18772000	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr11:18770000-18771000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr11:18770200-18771800	Enhancers	Brain Inferior Temporal Lobe	brain
10	chr11:18770400-18772000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
11	chr11:18770400-18772000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr11:18770400-18772000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr11:18770600-18770800	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr11:18770600-18771000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr11:18770600-18771600	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr11:18770600-18771600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr11:18770600-18771800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr11:18770600-18771800	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr11:18770600-18771800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr11:18770600-18771800	Enhancers	Esophagus	oesophagus
21	chr11:18770600-18772000	Enhancers	iPS-20b Cell Line	embryonic stem cell

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