Variant report

Variant	rs56042964
Chromosome Location	chr12:32117189-32117190
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:32116375..32119064-chr12:32135432..32138483,3	K562	blood:
2	chr12:32111934..32114190-chr12:32116343..32118523,3	MCF-7	breast:
3	chr12:32116205..32118530-chr12:32174123..32177069,2	K562	blood:

Variant related genes	Relation type
ENSG00000174718	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10506076	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12425769	0.89[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs16919122	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2166808	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4931001	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4931003	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4931590	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs55651717	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs55665510	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs56848191	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs56926075	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57665268	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs58883969	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs59727209	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73294852	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73294858	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73294863	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1043010	chr12:31798446-32143151	ZNF genes & repeats Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	nsv541446	chr12:31798446-32143151	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer 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	nsv558100	chr12:31866833-32185924	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
4	nsv1045464	chr12:31869888-32183792	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
5	nsv541447	chr12:31869888-32183792	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
6	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
7	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
8	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
9	nsv1040680	chr12:32079034-32124694	Weak transcription Genic enhancers Active TSS Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs56042964	KIAA1551	cis	Esophagus Muscularis	GTEx

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:32113400-32118600	Weak transcription	Pancreas	Pancrea
2	chr12:32113400-32121000	Transcr. at gene 5' and 3'	Primary T helper naive cells from peripheral blood	blood
3	chr12:32113600-32120800	Transcr. at gene 5' and 3'	Primary T regulatory cells fromperipheralblood	blood
4	chr12:32113800-32117800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr12:32113800-32118600	Transcr. at gene 5' and 3'	Primary T cells from cord blood	blood
6	chr12:32113800-32120200	Transcr. at gene 5' and 3'	Primary T cells fromperipheralblood	blood
7	chr12:32113800-32123400	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr12:32114000-32118600	Transcr. at gene 5' and 3'	Primary T helper cells fromperipheralblood	blood
9	chr12:32114000-32119600	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
10	chr12:32114000-32126200	Weak transcription	HSMM	muscle
11	chr12:32114000-32150800	Weak transcription	NHLF	lung
12	chr12:32114200-32117200	Transcr. at gene 5' and 3'	Primary mononuclear cells fromperipheralblood	Blood
13	chr12:32114200-32124800	Weak transcription	HSMMtube	muscle
14	chr12:32114400-32118400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr12:32114400-32119200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr12:32114400-32119400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr12:32114400-32120800	Genic enhancers	Left Ventricle	heart
18	chr12:32114400-32123400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr12:32114400-32124200	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr12:32114400-32132200	Weak transcription	NH-A	brain
21	chr12:32114600-32117200	Weak transcription	Fetal Kidney	kidney
22	chr12:32114600-32117600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr12:32114600-32118200	Transcr. at gene 5' and 3'	Primary T helper memory cells from peripheral blood 2	blood
24	chr12:32114600-32118200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr12:32114600-32118600	Weak transcription	Right Ventricle	heart
26	chr12:32114600-32119200	Weak transcription	Brain Substantia Nigra	brain
27	chr12:32114600-32119400	Weak transcription	Brain Angular Gyrus	brain
28	chr12:32114600-32123200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr12:32114600-32123200	Weak transcription	NHDF-Ad	bronchial
30	chr12:32114600-32123400	Genic enhancers	Primary B cells from peripheral blood	blood
31	chr12:32114800-32117400	Strong transcription	Brain Germinal Matrix	brain
32	chr12:32114800-32118000	Strong transcription	Rectal Mucosa Donor 31	rectum
33	chr12:32114800-32118200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr12:32114800-32118800	Strong transcription	Fetal Stomach	stomach
35	chr12:32114800-32119000	Weak transcription	Fetal Heart	heart
36	chr12:32114800-32123200	Weak transcription	Colonic Mucosa	Colon
37	chr12:32114800-32134000	Weak transcription	HMEC	breast
38	chr12:32115000-32117200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr12:32115000-32117200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr12:32115000-32117200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr12:32115000-32117200	Strong transcription	Fetal Muscle Trunk	muscle
42	chr12:32115000-32118000	Weak transcription	Esophagus	oesophagus
43	chr12:32115000-32118000	Strong transcription	Fetal Lung	lung
44	chr12:32115000-32119000	Weak transcription	Colon Smooth Muscle	Colon
45	chr12:32115000-32119200	Weak transcription	H9 Cell Line	embryonic stem cell
46	chr12:32115000-32119400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
47	chr12:32115000-32119400	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
48	chr12:32115000-32119400	Weak transcription	Aorta	Aorta
49	chr12:32115000-32119400	Weak transcription	Brain Cingulate Gyrus	brain
50	chr12:32115000-32119400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

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