Variant report

Variant	rs72944965
Chromosome Location	chr3:110403163-110403164
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	POU5F1	chr3:110402987-110403323	H1-hESC	embryonic stem cell:	n/a	n/a
2	TCF12	chr3:110403015-110403203	H1-hESC	embryonic stem cell:	n/a	n/a

Variant related genes	Relation type
ENSG00000244722	TF binding region

Extended variants
information (count: 104 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:92)

rs_ID	r²[population]
rs1020891	1.00[EUR][1000 genomes]
rs1037960	1.00[EUR][1000 genomes]
rs1040004	1.00[EUR][1000 genomes]
rs1160101	1.00[EUR][1000 genomes]
rs12330541	1.00[EUR][1000 genomes]
rs1350928	1.00[EUR][1000 genomes]
rs1350931	1.00[EUR][1000 genomes]
rs1398343	1.00[EUR][1000 genomes]
rs1398350	1.00[EUR][1000 genomes]
rs1398351	1.00[EUR][1000 genomes]
rs1398416	1.00[EUR][1000 genomes]
rs1462297	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1462312	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1512513	1.00[EUR][1000 genomes]
rs1512517	1.00[EUR][1000 genomes]
rs1512518	1.00[EUR][1000 genomes]
rs1512664	1.00[EUR][1000 genomes]
rs1512683	1.00[EUR][1000 genomes]
rs1533193	1.00[EUR][1000 genomes]
rs1533210	1.00[EUR][1000 genomes]
rs1546533	1.00[EUR][1000 genomes]
rs1599575	1.00[EUR][1000 genomes]
rs1599577	1.00[EUR][1000 genomes]
rs1841734	1.00[EUR][1000 genomes]
rs1849369	1.00[EUR][1000 genomes]
rs1903758	1.00[EUR][1000 genomes]
rs1913098	1.00[EUR][1000 genomes]
rs1949180	1.00[EUR][1000 genomes]
rs1949181	1.00[EUR][1000 genomes]
rs1975901	1.00[EUR][1000 genomes]
rs1993781	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2036968	1.00[EUR][1000 genomes]
rs2054376	1.00[EUR][1000 genomes]
rs2061682	1.00[EUR][1000 genomes]
rs2137381	1.00[EUR][1000 genomes]
rs2137383	1.00[EUR][1000 genomes]
rs2169566	1.00[EUR][1000 genomes]
rs3957571	1.00[EUR][1000 genomes]
rs3957572	1.00[EUR][1000 genomes]
rs4333116	1.00[EUR][1000 genomes]
rs4549301	1.00[EUR][1000 genomes]
rs4682012	1.00[EUR][1000 genomes]
rs4682021	1.00[EUR][1000 genomes]
rs4682177	1.00[EUR][1000 genomes]
rs4682593	1.00[EUR][1000 genomes]
rs58412853	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6437919	1.00[EUR][1000 genomes]
rs6437921	1.00[EUR][1000 genomes]
rs6437932	1.00[EUR][1000 genomes]
rs6766908	1.00[EUR][1000 genomes]
rs6780526	1.00[EUR][1000 genomes]
rs6781418	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6781884	1.00[EUR][1000 genomes]
rs6783722	1.00[EUR][1000 genomes]
rs6794368	1.00[EUR][1000 genomes]
rs6798353	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72941202	1.00[EUR][1000 genomes]
rs72943104	1.00[EUR][1000 genomes]
rs72943107	1.00[EUR][1000 genomes]
rs72943108	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72943110	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72943111	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72943114	1.00[EUR][1000 genomes]
rs72943119	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72944942	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72944943	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72944949	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72944956	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7612471	1.00[EUR][1000 genomes]
rs7615275	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7618482	1.00[EUR][1000 genomes]
rs7619978	1.00[EUR][1000 genomes]
rs7639735	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7641366	1.00[EUR][1000 genomes]
rs7642037	1.00[EUR][1000 genomes]
rs7644614	1.00[EUR][1000 genomes]
rs7652698	1.00[EUR][1000 genomes]
rs9288915	1.00[EUR][1000 genomes]
rs963345	1.00[EUR][1000 genomes]
rs964444	1.00[EUR][1000 genomes]
rs9818867	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs9819275	1.00[EUR][1000 genomes]
rs9823218	1.00[EUR][1000 genomes]
rs9824638	1.00[EUR][1000 genomes]
rs9826523	1.00[EUR][1000 genomes]
rs9829084	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs9839505	1.00[EUR][1000 genomes]
rs9857432	1.00[EUR][1000 genomes]
rs9860353	1.00[EUR][1000 genomes]
rs9868966	1.00[EUR][1000 genomes]
rs9874159	1.00[EUR][1000 genomes]
rs988374	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv520365	chr3:110155172-110441165	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv1001144	chr3:110158316-110431113	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv536687	chr3:110158316-110431113	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv1001810	chr3:110158316-110522247	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv1010230	chr3:110204439-110588814	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv536688	chr3:110204439-110588814	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv1011034	chr3:110209344-110559021	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv536689	chr3:110209344-110559021	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	nsv1003106	chr3:110264476-111105943	Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
10	nsv1014199	chr3:110293896-110754155	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
11	nsv829673	chr3:110378069-110530815	Enhancers Weak transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
12	nsv3941	chr3:110385790-110430523	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:110398400-110404600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr3:110400000-110404600	Weak transcription	Fetal Brain Male	brain
3	chr3:110402400-110406800	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr3:110402600-110403200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr3:110402600-110403400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
6	chr3:110402600-110403600	Enhancers	H1 Cell Line	embryonic stem cell
7	chr3:110402600-110403800	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr3:110402600-110404000	Enhancers	H9 Cell Line	embryonic stem cell
9	chr3:110402600-110404600	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr3:110402600-110404800	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr3:110402600-110406600	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chr3:110402800-110403200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr3:110402800-110404400	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr3:110402800-110406200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr3:110403000-110403200	Enhancers	iPS-20b Cell Line	embryonic stem cell
16	chr3:110403000-110405600	Enhancers	Fetal Lung	lung

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