Variant report

Variant	rs74127351
Chromosome Location	chr1:175566585-175566586
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs12069115	1.00[EUR][1000 genomes]
rs1883337	1.00[EUR][1000 genomes]
rs1883338	1.00[EUR][1000 genomes]
rs2182312	1.00[EUR][1000 genomes]
rs4650925	1.00[EUR][1000 genomes]
rs4650928	1.00[EUR][1000 genomes]
rs4652113	1.00[EUR][1000 genomes]
rs4652114	1.00[EUR][1000 genomes]
rs4652117	1.00[EUR][1000 genomes]
rs4652121	1.00[EUR][1000 genomes]
rs56354273	1.00[EUR][1000 genomes]
rs74127345	1.00[EUR][1000 genomes]
rs74127359	1.00[EUR][1000 genomes]
rs74127362	1.00[EUR][1000 genomes]
rs74127363	1.00[EUR][1000 genomes]
rs74127365	1.00[EUR][1000 genomes]
rs74127366	1.00[EUR][1000 genomes]
rs74129320	1.00[EUR][1000 genomes]
rs74129331	1.00[EUR][1000 genomes]
rs74129332	1.00[EUR][1000 genomes]
rs74130305	1.00[EUR][1000 genomes]
rs74130308	1.00[EUR][1000 genomes]
rs7538019	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:24 , 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	nsv527256	chr1:175430855-175582250	Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	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
16	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
17	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
18	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
19	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
20	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
21	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
22	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
23	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
24	esv3331140	chr1:175566476-175566767	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:175560800-175567200	Weak transcription	Pancreas	Pancrea
2	chr1:175560800-175567600	Weak transcription	Spleen	Spleen
3	chr1:175561600-175567800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr1:175565600-175567000	Enhancers	Brain Germinal Matrix	brain
5	chr1:175566000-175566800	Enhancers	Brain Hippocampus Middle	brain
6	chr1:175566000-175567000	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr1:175566000-175567000	Enhancers	Brain Substantia Nigra	brain
8	chr1:175566200-175566600	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
9	chr1:175566200-175566600	Enhancers	H9 Cell Line	embryonic stem cell
10	chr1:175566200-175566600	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
11	chr1:175566200-175566600	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
12	chr1:175566200-175566600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr1:175566200-175566600	Bivalent Enhancer	Left Ventricle	heart
14	chr1:175566200-175566600	Enhancers	Lung	lung
15	chr1:175566200-175566800	Enhancers	Brain Cingulate Gyrus	brain
16	chr1:175566200-175567000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr1:175566200-175567000	Enhancers	Brain Anterior Caudate	brain
18	chr1:175566200-175567800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr1:175566200-175568000	Enhancers	Primary B cells from peripheral blood	blood
20	chr1:175566400-175566600	Enhancers	Fetal Brain Male	brain
21	chr1:175566400-175566600	Enhancers	Skeletal Muscle Male	skeletal muscle
22	chr1:175566400-175567000	Enhancers	GM12878-XiMat	blood
23	chr1:175566400-175567200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr1:175566400-175568000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr1:175566400-175568200	Enhancers	HUVEC	blood vessel

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