Variant report

Variant	rs2118780
Chromosome Location	chr12:30815157-30815158
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:30814366..30817094-chr12:30823251..30825006,2	K562	blood:
2	chr12:30814175..30817421-chr12:30818477..30821058,3	K562	blood:

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs1863896	1.00[AFR][1000 genomes]
rs2114901	0.94[AFR][1000 genomes]
rs7974489	0.97[AFR][1000 genomes]
rs811580	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3343291	chr12:30455597-30992837	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv832361	chr12:30794030-30997241	Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	nsv949148	chr12:30800040-31131712	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:30767000-30844200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr12:30775600-30815400	Weak transcription	Right Ventricle	heart
3	chr12:30775800-30815200	Weak transcription	NHEK	skin
4	chr12:30779800-30825000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr12:30780800-30847000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr12:30781800-30826400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr12:30782400-30821200	Weak transcription	Esophagus	oesophagus
8	chr12:30783800-30827400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr12:30783800-30829000	Weak transcription	Small Intestine	intestine
10	chr12:30784000-30815800	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr12:30784800-30836600	Weak transcription	Fetal Heart	heart
12	chr12:30785000-30847800	Weak transcription	Gastric	stomach
13	chr12:30785200-30846400	Weak transcription	Spleen	Spleen
14	chr12:30785400-30847200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr12:30786000-30826600	Weak transcription	Colonic Mucosa	Colon
16	chr12:30787200-30821200	Weak transcription	Rectal Smooth Muscle	rectum
17	chr12:30788000-30821000	Weak transcription	Stomach Mucosa	stomach
18	chr12:30791200-30815600	Weak transcription	Fetal Brain Female	brain
19	chr12:30791200-30825200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
20	chr12:30793600-30825200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
21	chr12:30796800-30816000	Weak transcription	NHLF	lung
22	chr12:30797000-30815200	Weak transcription	Colon Smooth Muscle	Colon
23	chr12:30801400-30815600	Weak transcription	Brain Germinal Matrix	brain
24	chr12:30807800-30835200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr12:30808000-30837800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr12:30808400-30816400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
27	chr12:30808400-30816800	Strong transcription	Fetal Thymus	thymus
28	chr12:30808400-30829800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr12:30808600-30820200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr12:30808600-30830400	Strong transcription	Monocytes-CD14+_RO01746	blood
31	chr12:30808600-30839200	Strong transcription	Liver	Liver
32	chr12:30808800-30816600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr12:30808800-30835000	Strong transcription	Duodenum Mucosa	Duodenum
34	chr12:30808800-30838000	Strong transcription	Primary T helper cells fromperipheralblood	blood
35	chr12:30809200-30828800	Weak transcription	Pancreas	Pancrea
36	chr12:30809400-30820800	Weak transcription	Lung	lung
37	chr12:30809800-30818800	Strong transcription	Primary T helper cells PMA-I stimulated	--
38	chr12:30810000-30838200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr12:30810200-30816200	Strong transcription	Brain Hippocampus Middle	brain
40	chr12:30810400-30821200	Weak transcription	H9 Cell Line	embryonic stem cell
41	chr12:30810800-30843200	Strong transcription	Dnd41	blood
42	chr12:30810800-30843800	Weak transcription	Placenta Amnion	Placenta Amnion
43	chr12:30811000-30815400	Weak transcription	HUVEC	blood vessel
44	chr12:30811000-30844200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr12:30811200-30830200	Strong transcription	Primary monocytes fromperipheralblood	blood
46	chr12:30811400-30818200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr12:30811400-30821000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
48	chr12:30812000-30816400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr12:30812000-30816600	Strong transcription	Fetal Muscle Trunk	muscle
50	chr12:30812000-30816600	Strong transcription	Fetal Muscle Leg	muscle

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