Variant report

Variant	rs7978870
Chromosome Location	chr12:122864868-122864869
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:122864255..122866125-chr12:122882192..122884983,2	K562	blood:

Variant related genes	Relation type
ENSG00000130779	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11058290	0.83[AMR][1000 genomes]
rs11058435	0.83[AMR][1000 genomes]
rs11058777	0.91[ASW][hapmap];1.00[MEX][hapmap]
rs12296400	0.83[AMR][1000 genomes]
rs12312757	0.84[YRI][hapmap];0.83[AMR][1000 genomes]
rs12314100	0.83[AMR][1000 genomes]
rs12314476	0.91[ASW][hapmap];1.00[MEX][hapmap]
rs13377981	1.00[ASW][hapmap];0.89[LWK][hapmap];0.90[MKK][hapmap];0.83[AMR][1000 genomes]
rs7133070	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7294365	0.83[AMR][1000 genomes]
rs7299845	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7311062	0.81[MKK][hapmap]
rs7315448	1.00[MEX][hapmap]
rs7961579	0.83[AMR][1000 genomes]
rs7969173	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7974085	0.83[AMR][1000 genomes]
rs7977242	0.82[MKK][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529868	chr12:121956483-122944265	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	173 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122838000-122868000	Weak transcription	Fetal Lung	lung
2	chr12:122839600-122871000	Weak transcription	Fetal Kidney	kidney
3	chr12:122841000-122872600	Weak transcription	Fetal Brain Male	brain
4	chr12:122846000-122865600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr12:122846000-122883800	Weak transcription	Aorta	Aorta
6	chr12:122852000-122869800	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr12:122852000-122869800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr12:122852200-122867400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr12:122852200-122869800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr12:122852200-122870200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr12:122852800-122867800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
12	chr12:122853200-122868600	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr12:122853800-122866600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr12:122853800-122868600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr12:122853800-122869000	Strong transcription	Placenta	Placenta
16	chr12:122854200-122868000	Strong transcription	Fetal Stomach	stomach
17	chr12:122854200-122868600	Weak transcription	Stomach Mucosa	stomach
18	chr12:122854400-122867600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr12:122854600-122868000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr12:122854800-122867000	Weak transcription	Psoas Muscle	Psoas
21	chr12:122855600-122867800	Strong transcription	Fetal Intestine Small	intestine
22	chr12:122855800-122865200	Strong transcription	Hela-S3	cervix
23	chr12:122855800-122865400	Strong transcription	Primary neutrophils fromperipheralblood	blood
24	chr12:122855800-122867800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr12:122856000-122866600	Strong transcription	Duodenum Mucosa	Duodenum
26	chr12:122856400-122884200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
27	chr12:122856600-122877000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
28	chr12:122856600-122878200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
29	chr12:122857400-122865200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr12:122857600-122868000	Weak transcription	Brain Angular Gyrus	brain
31	chr12:122859000-122865200	Strong transcription	Primary T cells fromperipheralblood	blood
32	chr12:122859000-122867200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr12:122859200-122866800	Strong transcription	Primary T helper cells fromperipheralblood	blood
34	chr12:122859200-122867200	Strong transcription	Lung	lung
35	chr12:122859400-122865200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr12:122859400-122867000	Strong transcription	Fetal Muscle Trunk	muscle
37	chr12:122859400-122867200	Strong transcription	Liver	Liver
38	chr12:122859400-122867200	Strong transcription	Fetal Intestine Large	intestine
39	chr12:122860000-122869800	Weak transcription	Fetal Heart	heart
40	chr12:122860200-122865200	Strong transcription	Primary B cells from peripheral blood	blood
41	chr12:122860400-122865000	Strong transcription	Fetal Thymus	thymus
42	chr12:122860400-122866400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr12:122860400-122866600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr12:122860600-122865000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr12:122860600-122865200	Strong transcription	Adipose Nuclei	Adipose
46	chr12:122860600-122865200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr12:122860600-122865800	Strong transcription	Skeletal Muscle Male	skeletal muscle
48	chr12:122860600-122905000	Weak transcription	Brain Germinal Matrix	brain
49	chr12:122860800-122865400	Strong transcription	Rectal Mucosa Donor 29	rectum
50	chr12:122861400-122865200	Strong transcription	Duodenum Smooth Muscle	Duodenum

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