Variant report

Variant	rs73279144
Chromosome Location	chr12:45229322-45229323
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:45228113..45230766-chr12:45231414..45233959,2	K562	blood:
2	chr12:45228200..45231167-chr12:45235682..45238420,2	K562	blood:
3	chr12:45229297..45232222-chr12:45268941..45271789,2	K562	blood:

Variant related genes	Relation type
ENSG00000184613	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs2658991	1.00[AMR][1000 genomes]
rs268033	1.00[AMR][1000 genomes]
rs268038	1.00[AMR][1000 genomes]
rs2703036	1.00[AMR][1000 genomes]
rs2703044	1.00[AMR][1000 genomes]
rs2710427	1.00[AMR][1000 genomes]
rs2710432	1.00[AMR][1000 genomes]
rs58109917	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58840891	1.00[AMR][1000 genomes]
rs73275512	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73275524	1.00[AMR][1000 genomes]
rs73275531	1.00[AMR][1000 genomes]
rs73275551	1.00[AMR][1000 genomes]
rs73275596	1.00[AMR][1000 genomes]
rs73277300	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73279134	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73279145	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73279158	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73279176	1.00[AMR][1000 genomes]
rs73281008	1.00[AMR][1000 genomes]
rs73281095	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73281098	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73283039	1.00[AMR][1000 genomes]
rs73287011	1.00[AMR][1000 genomes]
rs73288970	1.00[AMR][1000 genomes]
rs73288973	1.00[AMR][1000 genomes]
rs73288975	1.00[AMR][1000 genomes]
rs73288980	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73288988	1.00[AMR][1000 genomes]
rs73288990	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73288993	1.00[AMR][1000 genomes]
rs73290682	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73290685	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73290688	1.00[AMR][1000 genomes]
rs73290690	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	esv3378050	chr12:44963059-45264289	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	nsv832394	chr12:45077573-45269305	Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a
3	nsv1036926	chr12:45131884-45273648	Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a
4	nsv541484	chr12:45131884-45273648	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a
5	nsv983317	chr12:45228308-45229655	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:45213600-45237800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr12:45220200-45229800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr12:45220600-45242000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
4	chr12:45221800-45242000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr12:45223200-45229400	Enhancers	Primary T helper cells PMA-I stimulated	--
6	chr12:45225200-45231400	Enhancers	Fetal Intestine Small	intestine
7	chr12:45226200-45230600	Enhancers	Fetal Brain Male	brain
8	chr12:45226800-45230000	Enhancers	Rectal Mucosa Donor 31	rectum
9	chr12:45227400-45230800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
10	chr12:45227800-45230400	Enhancers	Fetal Brain Female	brain
11	chr12:45228000-45229600	Enhancers	Primary T cells fromperipheralblood	blood
12	chr12:45228000-45231200	Enhancers	Fetal Intestine Large	intestine
13	chr12:45228000-45231400	Enhancers	Duodenum Mucosa	Duodenum
14	chr12:45228400-45229600	Enhancers	Esophagus	oesophagus
15	chr12:45228400-45229800	Enhancers	Sigmoid Colon	Sigmoid Colon
16	chr12:45228400-45230200	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr12:45228800-45230000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr12:45228800-45230000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr12:45228800-45230000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
20	chr12:45228800-45230600	Enhancers	NHEK	skin
21	chr12:45228800-45231800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
22	chr12:45228800-45232000	Enhancers	Primary T helper cells fromperipheralblood	blood
23	chr12:45228800-45234200	Enhancers	Primary T cells from cord blood	blood
24	chr12:45229000-45229400	Enhancers	Primary T helper naive cells from peripheral blood	blood
25	chr12:45229000-45229600	Enhancers	Primary T killer memory cells from peripheral blood	blood
26	chr12:45229000-45229600	Enhancers	Brain Angular Gyrus	brain
27	chr12:45229000-45229600	Enhancers	Rectal Mucosa Donor 29	rectum
28	chr12:45229000-45229600	Enhancers	Stomach Smooth Muscle	stomach
29	chr12:45229000-45229800	Enhancers	Brain Anterior Caudate	brain
30	chr12:45229000-45229800	Enhancers	Brain Cingulate Gyrus	brain
31	chr12:45229000-45229800	Enhancers	Brain Inferior Temporal Lobe	brain
32	chr12:45229000-45230000	Enhancers	Brain Hippocampus Middle	brain
33	chr12:45229000-45230200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr12:45229000-45231200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
35	chr12:45229000-45231600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr12:45229200-45229600	Enhancers	Pancreas	Pancrea
37	chr12:45229200-45229800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr12:45229200-45230000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr12:45229200-45230000	Enhancers	Brain Substantia Nigra	brain
40	chr12:45229200-45230400	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood

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