Variant report

Variant	rs1798586
Chromosome Location	chr12:32317997-32317998
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	chr12:32258386..32261549-chr12:32316667..32319930,4	K562	blood:
2	chr12:32317237..32319150-chr12:32328249..32330207,2	K562	blood:

Variant related genes	Relation type
ENSG00000257530	Chromatin interaction
ENSG00000151746	Chromatin interaction

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10743783	0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10771917	0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10771921	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10844137	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10844139	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1151009	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1151010	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1151011	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1151012	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1151013	0.95[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1151020	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1151026	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1151027	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1151029	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs161961	0.85[ASN][1000 genomes]
rs161962	0.85[ASN][1000 genomes]
rs161965	0.87[ASN][1000 genomes]
rs161968	0.87[ASN][1000 genomes]
rs161970	0.87[ASN][1000 genomes]
rs2594013	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2594014	0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs261905	0.85[ASN][1000 genomes]
rs2630566	0.80[ASN][1000 genomes]
rs2630578	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2630579	0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2652014	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2652018	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2668299	0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2668301	0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2668302	0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2668303	0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2668306	0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2668307	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs326631	0.85[ASN][1000 genomes]
rs4931610	0.90[ASN][1000 genomes]
rs4931611	0.90[ASN][1000 genomes]
rs4931612	0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4931613	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4931614	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4931615	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4931616	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs60718794	0.81[ASN][1000 genomes]
rs6488034	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7965981	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3363806	chr12:31872264-32410283	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	esv3508621	chr12:31872654-32410593	Weak transcription ZNF genes & repeats Active TSS Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	esv3508622	chr12:31872654-32410593	Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
4	nsv983498	chr12:32153446-32388092	Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv898969	chr12:32224948-32375677	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv531960	chr12:32257285-32775277	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
7	esv2751096	chr12:32280340-32702784	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
8	nsv558171	chr12:32287259-32559693	Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:32269000-32340200	Weak transcription	Dnd41	blood
2	chr12:32287800-32328400	Weak transcription	Aorta	Aorta
3	chr12:32293600-32323600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr12:32293600-32369200	Weak transcription	Thymus	Thymus
5	chr12:32294200-32318200	Weak transcription	Primary T cells from cord blood	blood
6	chr12:32299400-32334800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr12:32299600-32346200	Weak transcription	Primary B cells from peripheral blood	blood
8	chr12:32300200-32319200	Weak transcription	GM12878-XiMat	blood
9	chr12:32300200-32336600	Weak transcription	A549	lung
10	chr12:32303000-32319200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr12:32303000-32336600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr12:32303800-32319400	Weak transcription	Primary hematopoietic stem cells	blood
13	chr12:32309400-32323200	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr12:32309400-32324000	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr12:32309400-32325000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr12:32309400-32353400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr12:32309600-32323000	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr12:32309600-32323000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr12:32309600-32336400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr12:32309600-32346000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr12:32309600-32351400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr12:32309600-32352200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr12:32309800-32323000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr12:32309800-32336400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr12:32309800-32336600	Weak transcription	HMEC	breast
26	chr12:32310800-32322800	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr12:32310800-32323000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr12:32310800-32323400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr12:32311800-32323000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
30	chr12:32312000-32322600	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr12:32313200-32322200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr12:32313200-32325600	Weak transcription	Ovary	ovary
33	chr12:32313200-32336600	Weak transcription	NH-A	brain
34	chr12:32313400-32318200	Weak transcription	Brain Germinal Matrix	brain
35	chr12:32313400-32331400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr12:32313400-32369400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr12:32313600-32324000	Weak transcription	HSMMtube	muscle
38	chr12:32313600-32325600	Weak transcription	Osteobl	bone
39	chr12:32314200-32318200	Weak transcription	Pancreatic Islets	Pancreatic Islet
40	chr12:32315000-32333000	Weak transcription	Right Atrium	heart
41	chr12:32315400-32346000	Weak transcription	Primary B cells from cord blood	blood
42	chr12:32315600-32336600	Weak transcription	HSMM	muscle
43	chr12:32316400-32334600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr12:32317400-32319400	Strong transcription	Cortex derived primary cultured neurospheres	brain
45	chr12:32317800-32318000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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