Variant report

Variant	rs11046046
Chromosome Location	chr12:21591247-21591248
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:21569338..21572113-chr12:21589171..21592854,4	K562	blood:
2	chr12:21569338..21572113-chr12:21589171..21592483,4	K562	blood:
3	chr12:21590977..21592503-chr12:21654111..21656929,2	K562	blood:
4	chr11:117102270..117102865-chr12:21590776..21591304,2	HCT-116	colon:
5	chr12:21589456..21592020-chr12:21808889..21812230,4	K562	blood:

Variant related genes	Relation type
ENSG00000160613	Chromatin interaction
ENSG00000084453	Chromatin interaction
ENSG00000111711	Chromatin interaction
ENSG00000004700	Chromatin interaction
ENSG00000111716	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10841812	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10841813	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10841814	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10841818	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10841820	0.86[ASN][1000 genomes]
rs10841823	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10841830	0.84[ASN][1000 genomes]
rs11046043	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11046048	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11046051	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11046066	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11046068	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11046072	0.86[ASN][1000 genomes]
rs11046075	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12371829	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13266	0.85[ASN][1000 genomes]
rs17849408	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2192175	0.90[ASN][1000 genomes]
rs28886017	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3809207	0.85[ASN][1000 genomes]
rs6500	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7309377	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7964152	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv898895	chr12:21561645-21621891	Weak transcription Flanking Active TSS Active TSS Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
2	nsv898896	chr12:21561645-21695584	Strong transcription Bivalent Enhancer Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
3	nsv1043936	chr12:21562673-21979030	ZNF genes & repeats Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
4	nsv557741	chr12:21578559-22169854	Strong transcription Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
5	nsv469163	chr12:21579080-21592357	Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
6	nsv557742	chr12:21579080-21592357	Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:21589800-21591400	Active TSS	Fetal Kidney	kidney
2	chr12:21589800-21591600	Active TSS	HUES48 Cell Line	embryonic stem cell
3	chr12:21589800-21591600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr12:21589800-21591600	Active TSS	Breast Myoepithelial Primary Cells	Breast
5	chr12:21589800-21591600	Active TSS	HSMMtube	muscle
6	chr12:21589800-21592000	Active TSS	Rectal Mucosa Donor 29	rectum
7	chr12:21590000-21591400	Active TSS	H9 Cell Line	embryonic stem cell
8	chr12:21590000-21591400	Active TSS	Brain Anterior Caudate	brain
9	chr12:21590000-21591400	Active TSS	Brain Hippocampus Middle	brain
10	chr12:21590000-21591400	Active TSS	Colon Smooth Muscle	Colon
11	chr12:21590000-21591400	Active TSS	Fetal Heart	heart
12	chr12:21590000-21591400	Active TSS	Fetal Intestine Large	intestine
13	chr12:21590000-21591600	Active TSS	ES-I3 Cell Line	embryonic stem cell
14	chr12:21590000-21591600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr12:21590000-21591600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr12:21590000-21591600	Active TSS	HUES6 Cell Line	embryonic stem cell
17	chr12:21590000-21591600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr12:21590000-21591600	Active TSS	iPS-15b Cell Line	embryonic stem cell
19	chr12:21590000-21591600	Active TSS	Primary T helper naive cells from peripheral blood	blood
20	chr12:21590000-21591600	Active TSS	Cortex derived primary cultured neurospheres	brain
21	chr12:21590000-21591600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr12:21590000-21591600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr12:21590000-21591600	Active TSS	Brain Angular Gyrus	brain
24	chr12:21590000-21591600	Active TSS	Colonic Mucosa	Colon
25	chr12:21590000-21591600	Active TSS	Pancreatic Islets	Pancreatic Islet
26	chr12:21590000-21591600	Active TSS	Fetal Muscle Trunk	muscle
27	chr12:21590000-21591600	Active TSS	Placenta	Placenta
28	chr12:21590000-21591600	Active TSS	Ovary	ovary
29	chr12:21590000-21591600	Active TSS	Right Atrium	heart
30	chr12:21590000-21591600	Active TSS	NHDF-Ad	bronchial
31	chr12:21590000-21591600	Active TSS	NHEK	skin
32	chr12:21590000-21591800	Active TSS	H1 Cell Line	embryonic stem cell
33	chr12:21590000-21591800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr12:21590000-21591800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr12:21590000-21591800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr12:21590000-21591800	Active TSS	Duodenum Smooth Muscle	Duodenum
37	chr12:21590000-21591800	Active TSS	Fetal Intestine Small	intestine
38	chr12:21590000-21591800	Active TSS	Right Ventricle	heart
39	chr12:21590000-21591800	Active TSS	HSMM	muscle
40	chr12:21590000-21592000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr12:21590000-21592000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr12:21590000-21592000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr12:21590000-21592000	Active TSS	Psoas Muscle	Psoas
44	chr12:21590000-21592000	Active TSS	Rectal Smooth Muscle	rectum
45	chr12:21590000-21592200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr12:21590000-21592200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
47	chr12:21590000-21592200	Active TSS	Skeletal Muscle Male	skeletal muscle
48	chr12:21590000-21592200	Active TSS	NH-A	brain
49	chr12:21590000-21592200	Active TSS	NHLF	lung
50	chr12:21590000-21592400	Active TSS	Stomach Smooth Muscle	stomach

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