Variant report

Variant	rs12755733
Chromosome Location	chr1:175644836-175644837
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs56318034	1.00[AFR][1000 genomes]
rs72709203	1.00[AFR][1000 genomes]
rs72709205	1.00[AFR][1000 genomes]
rs72709207	1.00[AFR][1000 genomes]
rs72709212	1.00[AFR][1000 genomes]
rs72709224	1.00[AFR][1000 genomes]
rs72709226	1.00[AFR][1000 genomes]
rs72709229	1.00[AFR][1000 genomes]
rs72709231	1.00[AFR][1000 genomes]
rs72709236	1.00[AFR][1000 genomes]
rs72709237	1.00[AFR][1000 genomes]
rs72709245	1.00[AFR][1000 genomes]
rs72709250	1.00[AFR][1000 genomes]
rs72709253	1.00[AFR][1000 genomes]
rs72709265	1.00[AFR][1000 genomes]
rs72709270	1.00[AFR][1000 genomes]
rs72709285	1.00[AFR][1000 genomes]
rs72709289	1.00[AFR][1000 genomes]
rs72709290	1.00[AFR][1000 genomes]
rs72709293	1.00[AFR][1000 genomes]
rs72709299	1.00[AFR][1000 genomes]
rs72709302	1.00[AFR][1000 genomes]
rs72711103	1.00[AFR][1000 genomes]
rs72711105	1.00[AFR][1000 genomes]
rs72711107	1.00[AFR][1000 genomes]
rs72711110	1.00[AFR][1000 genomes]
rs72711111	1.00[AFR][1000 genomes]
rs72711113	1.00[AFR][1000 genomes]
rs72711116	1.00[AFR][1000 genomes]
rs72711117	1.00[AFR][1000 genomes]
rs72711119	1.00[AFR][1000 genomes]
rs72711120	1.00[AFR][1000 genomes]
rs72725433	1.00[AFR][1000 genomes]
rs72727638	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:23 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999586	chr1:175428957-175765789	Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv1014015	chr1:175430199-175752187	Enhancers Bivalent Enhancer ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv1012012	chr1:175430199-175760752	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv1000135	chr1:175430199-175765789	Bivalent Enhancer Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv1008727	chr1:175430808-175752725	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv1008620	chr1:175430808-175760752	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv466072	chr1:175430855-175739003	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv548243	chr1:175430855-175739003	Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	nsv528975	chr1:175430855-175757242	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
10	nsv466083	chr1:175430855-175757242	Active TSS Bivalent Enhancer Weak transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
11	nsv548244	chr1:175430855-175757242	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
12	nsv548245	chr1:175430855-175772378	ZNF genes & repeats Enhancers Bivalent Enhancer Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
13	nsv1004585	chr1:175436519-175739951	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
14	nsv998119	chr1:175436519-175760752	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
15	nsv948460	chr1:175439176-175751385	Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
16	nsv1011962	chr1:175440153-175760752	Enhancers Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
17	esv33328	chr1:175446583-175910001	Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
18	nsv915955	chr1:175448830-175704923	Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
19	nsv998327	chr1:175448846-175704803	Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
20	nsv535211	chr1:175448846-175704803	Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
21	nsv1001391	chr1:175448870-175728998	Weak transcription Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
22	nsv535212	chr1:175448870-175728998	Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
23	nsv831959	chr1:175576384-175776729	Enhancers ZNF genes & repeats Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 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	chr1:175641200-175646600	Enhancers	Primary B cells from peripheral blood	blood
2	chr1:175641200-175650200	Enhancers	Cortex derived primary cultured neurospheres	brain
3	chr1:175641400-175645000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr1:175641600-175645200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr1:175641800-175647200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr1:175642000-175646200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr1:175642200-175647000	Enhancers	Fetal Brain Male	brain
8	chr1:175643200-175647400	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr1:175643200-175647600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr1:175643400-175647800	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr1:175643400-175649800	Weak transcription	Spleen	Spleen
12	chr1:175643400-175650800	Enhancers	Brain Cingulate Gyrus	brain
13	chr1:175643600-175645600	Enhancers	Brain Anterior Caudate	brain
14	chr1:175643800-175646600	Enhancers	Brain Angular Gyrus	brain
15	chr1:175643800-175651000	Enhancers	Brain Substantia Nigra	brain
16	chr1:175644000-175647000	Weak transcription	HUVEC	blood vessel
17	chr1:175644200-175646600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr1:175644400-175645400	Bivalent Enhancer	Brain Hippocampus Middle	brain
19	chr1:175644400-175649600	Weak transcription	Primary B cells from cord blood	blood
20	chr1:175644600-175645400	Weak transcription	Pancreas	Pancrea
21	chr1:175644800-175645200	Weak transcription	Brain Germinal Matrix	brain
22	chr1:175644800-175645800	Weak transcription	Fetal Brain Female	brain
23	chr1:175644800-175646600	Enhancers	Brain Inferior Temporal Lobe	brain

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