Variant report

Variant	rs13376283
Chromosome Location	chr1:112987713-112987714
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:112981054..112982976-chr1:112986896..112988745,2	K562	blood:

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs17030229	0.84[AFR][1000 genomes]
rs17030259	1.00[YRI][hapmap];0.92[AFR][1000 genomes]
rs17030350	0.89[MKK][hapmap];0.87[YRI][hapmap]
rs17030356	0.84[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv13370	chr1:112693290-113246263	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	nsv1002971	chr1:112924725-113740584	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	166 gene(s)	inside rSNPs	diseases
3	nsv535059	chr1:112924725-113740584	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active 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 miRNA target site	166 gene(s)	inside rSNPs	diseases
4	nsv831081	chr1:112934920-113122640	Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	esv1850997	chr1:112944472-112993754	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:112942400-112988200	Weak transcription	Small Intestine	intestine
2	chr1:112952400-112990600	Weak transcription	Esophagus	oesophagus
3	chr1:112957600-112997600	Weak transcription	Brain Anterior Caudate	brain
4	chr1:112959600-112991600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr1:112959800-112992800	Weak transcription	Fetal Muscle Trunk	muscle
6	chr1:112960000-112995200	Weak transcription	Stomach Smooth Muscle	stomach
7	chr1:112960000-112996800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr1:112960200-112991600	Weak transcription	Hela-S3	cervix
9	chr1:112960400-112991400	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr1:112961200-112995600	Weak transcription	Brain Cingulate Gyrus	brain
11	chr1:112962000-112990800	Weak transcription	Fetal Brain Male	brain
12	chr1:112962600-112990400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr1:112962600-112991600	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr1:112965800-112996200	Weak transcription	Placenta	Placenta
15	chr1:112967000-112991600	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr1:112968600-112990600	Weak transcription	Fetal Muscle Leg	muscle
17	chr1:112968600-112994800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr1:112968600-112995400	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr1:112968600-112995600	Weak transcription	Colonic Mucosa	Colon
20	chr1:112972200-112991400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr1:112973600-112988800	Weak transcription	Lung	lung
22	chr1:112974000-112997000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr1:112976200-112994200	Weak transcription	Psoas Muscle	Psoas
24	chr1:112979400-112988800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr1:112979600-112990000	Weak transcription	Rectal Mucosa Donor 31	rectum
26	chr1:112979600-112990800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr1:112979600-112998600	Weak transcription	Right Ventricle	heart
28	chr1:112979600-112998600	Weak transcription	Spleen	Spleen
29	chr1:112979800-112990800	Weak transcription	Duodenum Mucosa	Duodenum
30	chr1:112979800-112992000	Weak transcription	Brain Angular Gyrus	brain
31	chr1:112979800-112992200	Weak transcription	Brain Germinal Matrix	brain
32	chr1:112980000-112988200	Weak transcription	GM12878-XiMat	blood
33	chr1:112981000-112997200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr1:112981400-112990800	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr1:112981400-113006000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr1:112981600-112990600	Weak transcription	Fetal Brain Female	brain
37	chr1:112981600-112999000	Weak transcription	Brain Substantia Nigra	brain
38	chr1:112981800-112996600	Weak transcription	Liver	Liver
39	chr1:112982000-112989200	Weak transcription	Placenta Amnion	Placenta Amnion
40	chr1:112982000-112996800	Weak transcription	Rectal Smooth Muscle	rectum
41	chr1:112982000-112998800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
42	chr1:112982200-112988400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr1:112982400-112991600	Weak transcription	Fetal Stomach	stomach
44	chr1:112982600-112998600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr1:112982800-112991600	Weak transcription	Fetal Lung	lung
46	chr1:112982800-112998800	Weak transcription	Colon Smooth Muscle	Colon
47	chr1:112983200-112991600	Weak transcription	Adipose Nuclei	Adipose
48	chr1:112984200-112991600	Weak transcription	HUES64 Cell Line	embryonic stem cell
49	chr1:112984400-112990600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
50	chr1:112984400-112995600	Weak transcription	Fetal Kidney	kidney

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