Variant report

Variant	rs1348752
Chromosome Location	chr2:209054073-209054074
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	REST	chr2:209053783-209055326	H1-neurons	neurons:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:209041162..209042836-chr2:209051785..209054428,2	K562	blood:

Variant related genes	Relation type
C2orf80	TF binding region

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs1023751	1.00[AMR][1000 genomes]
rs10755022	1.00[AMR][1000 genomes]
rs10932258	1.00[AMR][1000 genomes]
rs11674342	1.00[AMR][1000 genomes]
rs11690008	1.00[AMR][1000 genomes]
rs12464567	1.00[AMR][1000 genomes]
rs12474810	1.00[AMR][1000 genomes]
rs12694099	1.00[AMR][1000 genomes]
rs1529978	1.00[AMR][1000 genomes]
rs1992740	1.00[AMR][1000 genomes]
rs2043718	1.00[AMR][1000 genomes]
rs2043719	1.00[AMR][1000 genomes]
rs2118298	1.00[AMR][1000 genomes]
rs2363464	1.00[AMR][1000 genomes]
rs4675756	1.00[AMR][1000 genomes]
rs6435421	1.00[AMR][1000 genomes]
rs6435422	1.00[AMR][1000 genomes]
rs6435423	1.00[AMR][1000 genomes]
rs6435424	1.00[AMR][1000 genomes]
rs6435432	1.00[AMR][1000 genomes]
rs6435438	1.00[AMR][1000 genomes]
rs6706160	1.00[AMR][1000 genomes]
rs6728979	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6748431	1.00[AMR][1000 genomes]
rs6755550	1.00[AMR][1000 genomes]
rs7593482	1.00[AMR][1000 genomes]
rs796269	1.00[AMR][1000 genomes]
rs935366	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9808144	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1010531	chr2:208610639-209176782	Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Active TSS Strong transcription 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 miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv536130	chr2:208610639-209176782	Weak transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Active TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv534496	chr2:208814372-209302791	Strong transcription Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
4	nsv834517	chr2:209006797-209170269	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
5	nsv584297	chr2:209020181-209316760	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
6	nsv584299	chr2:209021232-209067051	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv875749	chr2:209022909-209062388	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv875750	chr2:209022909-209069303	Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
9	nsv869592	chr2:209029861-209060862	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
10	nsv584300	chr2:209033557-209054928	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
11	esv2763083	chr2:209033581-209058397	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
12	nsv584301	chr2:209034715-209054928	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
13	nsv875751	chr2:209042963-209110784	Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
14	nsv522180	chr2:209052303-209062388	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:209040000-209064000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr2:209051200-209055200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
3	chr2:209051800-209055400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr2:209052000-209054200	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr2:209052000-209054200	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr2:209052000-209054400	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr2:209052000-209054400	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr2:209052400-209054400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr2:209052800-209054200	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr2:209052800-209054200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr2:209052800-209054400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr2:209052800-209055000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr2:209053000-209054200	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr2:209053000-209054200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr2:209053400-209054200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr2:209053400-209056000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr2:209053600-209054200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr2:209053600-209054200	Enhancers	Brain Anterior Caudate	brain
19	chr2:209053600-209055000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr2:209053800-209054800	Flanking Active TSS	Fetal Brain Male	brain
21	chr2:209053800-209054800	Active TSS	Fetal Brain Female	brain
22	chr2:209054000-209054400	Flanking Active TSS	Brain Germinal Matrix	brain
23	chr2:209054000-209054800	Active TSS	Brain Hippocampus Middle	brain

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