Variant report

Variant	rs74078990
Chromosome Location	chr12:42839452-42839453
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:42819936..42821607-chr12:42836679..42839667,2	K562	blood:
2	chr12:42837129..42840023-chr12:42871867..42874366,2	K562	blood:

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs57166587	1.00[AMR][1000 genomes]
rs57260154	1.00[AMR][1000 genomes]
rs58488818	1.00[AMR][1000 genomes]
rs58902406	1.00[AMR][1000 genomes]
rs59321446	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60341977	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61188358	0.83[AMR][1000 genomes]
rs7136339	1.00[AMR][1000 genomes]
rs7303532	1.00[AMR][1000 genomes]
rs73270272	0.83[AMR][1000 genomes]
rs73272006	1.00[AMR][1000 genomes]
rs73272039	1.00[AMR][1000 genomes]
rs73272041	1.00[AMR][1000 genomes]
rs73272052	1.00[AMR][1000 genomes]
rs73272054	1.00[AMR][1000 genomes]
rs73272065	1.00[AMR][1000 genomes]
rs73273905	1.00[AMR][1000 genomes]
rs73273908	1.00[AMR][1000 genomes]
rs73273915	1.00[AMR][1000 genomes]
rs73273940	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73273948	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73283726	0.83[AMR][1000 genomes]
rs73283728	0.83[AMR][1000 genomes]
rs73283731	0.83[AMR][1000 genomes]
rs73283737	0.83[AMR][1000 genomes]
rs73283752	0.83[AMR][1000 genomes]
rs73283757	0.83[AMR][1000 genomes]
rs73283764	0.83[AMR][1000 genomes]
rs73283782	1.00[AMR][1000 genomes]
rs73285606	1.00[AMR][1000 genomes]
rs73285607	1.00[AMR][1000 genomes]
rs73285610	1.00[AMR][1000 genomes]
rs73285625	1.00[AMR][1000 genomes]
rs73285647	1.00[AMR][1000 genomes]
rs73285664	1.00[AMR][1000 genomes]
rs73285666	1.00[AMR][1000 genomes]
rs73285678	1.00[AMR][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	nsv1044790	chr12:42672255-43344184	Enhancers Bivalent Enhancer Strong transcription Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases
2	nsv541483	chr12:42672255-43344184	Active TSS Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:42720800-42844400	Weak transcription	Small Intestine	intestine
2	chr12:42793800-42840400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr12:42816200-42858200	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr12:42816800-42840400	Weak transcription	Fetal Kidney	kidney
5	chr12:42816800-42862400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr12:42817000-42840000	Weak transcription	NHDF-Ad	bronchial
7	chr12:42820000-42858200	Weak transcription	Gastric	stomach
8	chr12:42820200-42853000	Weak transcription	Fetal Heart	heart
9	chr12:42821000-42844000	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr12:42821400-42840200	Weak transcription	HUVEC	blood vessel
11	chr12:42823600-42839600	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr12:42823800-42840600	Weak transcription	NH-A	brain
13	chr12:42826000-42842400	Weak transcription	HSMM	muscle
14	chr12:42826200-42840200	Weak transcription	Colon Smooth Muscle	Colon
15	chr12:42826400-42859000	Weak transcription	Fetal Brain Male	brain
16	chr12:42826600-42858200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr12:42831800-42876400	Weak transcription	Psoas Muscle	Psoas
18	chr12:42832800-42845000	Strong transcription	Monocytes-CD14+_RO01746	blood
19	chr12:42833200-42841000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr12:42833600-42841400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr12:42834200-42841200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
22	chr12:42834200-42843200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr12:42834200-42859600	Weak transcription	Brain Substantia Nigra	brain
24	chr12:42834400-42840600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr12:42834400-42842400	Strong transcription	Primary T helper cells PMA-I stimulated	--
26	chr12:42834400-42843000	Strong transcription	Duodenum Mucosa	Duodenum
27	chr12:42834400-42843000	Strong transcription	Fetal Thymus	thymus
28	chr12:42834800-42839800	Weak transcription	Colonic Mucosa	Colon
29	chr12:42834800-42841600	Strong transcription	Fetal Muscle Leg	muscle
30	chr12:42834800-42842800	Strong transcription	Primary T cells fromperipheralblood	blood
31	chr12:42834800-42843200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr12:42835000-42840600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr12:42835000-42840600	Strong transcription	Primary B cells from cord blood	blood
34	chr12:42835000-42840600	Strong transcription	Adipose Nuclei	Adipose
35	chr12:42835000-42840800	Strong transcription	Liver	Liver
36	chr12:42835000-42841000	Strong transcription	Primary neutrophils fromperipheralblood	blood
37	chr12:42835000-42841400	Strong transcription	Rectal Mucosa Donor 29	rectum
38	chr12:42835000-42841600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr12:42835000-42842200	Weak transcription	Pancreatic Islets	Pancreatic Islet
40	chr12:42835200-42840600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr12:42835400-42843200	Strong transcription	Primary monocytes fromperipheralblood	blood
42	chr12:42835600-42839600	Strong transcription	Primary T helper naive cells from peripheral blood	blood
43	chr12:42835600-42840600	Strong transcription	Placenta	Placenta
44	chr12:42835800-42839800	Strong transcription	Skeletal Muscle Female	skeletal muscle
45	chr12:42836000-42875800	Weak transcription	Stomach Mucosa	stomach
46	chr12:42836200-42839800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr12:42836600-42841000	Strong transcription	Ovary	ovary
48	chr12:42836600-42853000	Weak transcription	H1 Cell Line	embryonic stem cell
49	chr12:42836800-42840000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr12:42836800-42840200	Strong transcription	Primary T killer memory cells from peripheral blood	blood

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