Variant report

Variant	rs1051643
Chromosome Location	chr5:126171999-126172000
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	chr5:126112699..126114423-chr5:126171839..126174681,2	K562	blood:

Variant related genes	Relation type
ENSG00000113368	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs2973593	0.93[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.95[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.92[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2973594	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7705796	0.80[EUR][1000 genomes]
rs959573	0.81[MEX][hapmap]
rs966087	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949054	chr5:125918148-126254480	Enhancers Genic enhancers Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking 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	44 gene(s)	inside rSNPs	diseases
2	nsv534292	chr5:125993451-126259315	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1051643	ANKS1A	trans	cerebellum	SCAN

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:126136000-126175200	Strong transcription	Dnd41	blood
2	chr5:126139800-126175400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr5:126140000-126175200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr5:126140000-126175400	Strong transcription	Fetal Thymus	thymus
5	chr5:126141000-126177400	Weak transcription	Small Intestine	intestine
6	chr5:126141200-126181800	Weak transcription	Rectal Smooth Muscle	rectum
7	chr5:126141400-126174200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr5:126144400-126173200	Weak transcription	Esophagus	oesophagus
9	chr5:126146000-126183200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr5:126146000-126183600	Weak transcription	Left Ventricle	heart
11	chr5:126148200-126182400	Weak transcription	HSMMtube	muscle
12	chr5:126148200-126193200	Weak transcription	Brain Angular Gyrus	brain
13	chr5:126149600-126181400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
14	chr5:126151200-126175200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
15	chr5:126151200-126175400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr5:126151400-126181400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr5:126151800-126175200	Strong transcription	Monocytes-CD14+_RO01746	blood
18	chr5:126152000-126172400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr5:126152200-126173800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr5:126152200-126175200	Strong transcription	Primary monocytes fromperipheralblood	blood
21	chr5:126153600-126175400	Strong transcription	Primary neutrophils fromperipheralblood	blood
22	chr5:126158000-126204600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr5:126160600-126172400	Strong transcription	Primary T helper cells fromperipheralblood	blood
24	chr5:126160600-126172600	Strong transcription	A549	lung
25	chr5:126161000-126172600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr5:126162600-126172200	Strong transcription	HUES64 Cell Line	embryonic stem cell
27	chr5:126162600-126181200	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr5:126162800-126172600	Strong transcription	HUES6 Cell Line	embryonic stem cell
29	chr5:126162800-126172800	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr5:126162800-126173400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
31	chr5:126162800-126173600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr5:126162800-126176000	Weak transcription	Fetal Heart	heart
33	chr5:126162800-126182000	Weak transcription	Brain Anterior Caudate	brain
34	chr5:126163000-126172600	Strong transcription	HUES48 Cell Line	embryonic stem cell
35	chr5:126163000-126173400	Strong transcription	H1 Cell Line	embryonic stem cell
36	chr5:126163000-126173600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr5:126163000-126173600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr5:126163000-126181600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
39	chr5:126163200-126181200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
40	chr5:126163600-126181200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
41	chr5:126163600-126181200	Weak transcription	Rectal Mucosa Donor 31	rectum
42	chr5:126163800-126174000	Weak transcription	Pancreas	Pancrea
43	chr5:126163800-126176200	Weak transcription	Ovary	ovary
44	chr5:126163800-126182200	Weak transcription	Colonic Mucosa	Colon
45	chr5:126163800-126182600	Weak transcription	Skeletal Muscle Female	skeletal muscle
46	chr5:126163800-126193200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr5:126164000-126182400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr5:126165600-126181400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr5:126166000-126177000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr5:126166000-126181200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood

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