Variant report

Variant	rs7978609
Chromosome Location	chr12:122095235-122095236
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:122086547..122088935-chr12:122095137..122096951,2	K562	blood:
2	chr12:122091567..122095295-chr12:122101432..122103778,3	K562	blood:
3	chr12:122062091..122065392-chr12:122094028..122098514,5	K562	blood:
4	chr12:122062091..122064863-chr12:122094028..122096465,2	K562	blood:

Variant related genes	Relation type
ENSG00000182500	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10743188	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12320939	0.89[EUR][1000 genomes]
rs1877484	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2309142	0.85[EUR][1000 genomes]
rs2669163	0.86[EUR][1000 genomes]
rs2669168	0.82[EUR][1000 genomes]
rs2720021	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2720022	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2720035	0.85[EUR][1000 genomes]
rs2942368	0.86[EUR][1000 genomes]
rs2954116	0.90[EUR][1000 genomes]
rs3825175	0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6486786	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6486789	0.91[EUR][1000 genomes]
rs7135617	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7297028	0.83[EUR][1000 genomes]
rs7397295	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7978866	0.84[EUR][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	nsv1053272	chr12:121956483-122132477	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
2	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:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122066400-122096600	Weak transcription	Brain Anterior Caudate	brain
2	chr12:122067800-122096600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr12:122071400-122096600	Weak transcription	Colonic Mucosa	Colon
4	chr12:122071400-122096600	Weak transcription	Right Atrium	heart
5	chr12:122077400-122096400	Weak transcription	Osteobl	bone
6	chr12:122079400-122096600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr12:122079600-122096600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr12:122080000-122096600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr12:122080000-122096600	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr12:122080000-122096600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr12:122080000-122096600	Weak transcription	Fetal Intestine Large	intestine
12	chr12:122080000-122096600	Weak transcription	Gastric	stomach
13	chr12:122080200-122096400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr12:122080200-122096600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr12:122080200-122096600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr12:122080200-122096800	Weak transcription	Stomach Smooth Muscle	stomach
17	chr12:122080400-122096600	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr12:122080400-122097000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr12:122081000-122097000	Weak transcription	Fetal Lung	lung
20	chr12:122081400-122096600	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr12:122081800-122101400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr12:122087600-122096600	Weak transcription	Duodenum Mucosa	Duodenum
23	chr12:122088200-122096000	Weak transcription	Primary B cells from cord blood	blood
24	chr12:122088400-122095400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
25	chr12:122088400-122096000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
26	chr12:122089800-122096200	Weak transcription	Primary B cells from peripheral blood	blood
27	chr12:122089800-122096600	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr12:122089800-122096600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr12:122091000-122096000	Weak transcription	Primary T cells from cord blood	blood
30	chr12:122091000-122096400	Weak transcription	Fetal Muscle Trunk	muscle
31	chr12:122091000-122096600	Weak transcription	Skeletal Muscle Female	skeletal muscle
32	chr12:122091000-122110000	Weak transcription	Pancreas	Pancrea
33	chr12:122091200-122095800	Weak transcription	Primary neutrophils fromperipheralblood	blood
34	chr12:122091200-122095800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
35	chr12:122091200-122096400	Weak transcription	Fetal Stomach	stomach
36	chr12:122091200-122096600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr12:122091200-122096600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
38	chr12:122091200-122096600	Weak transcription	Esophagus	oesophagus
39	chr12:122091200-122096600	Weak transcription	Fetal Intestine Small	intestine
40	chr12:122091200-122096600	Weak transcription	Fetal Muscle Leg	muscle
41	chr12:122091200-122097000	Weak transcription	Lung	lung
42	chr12:122091200-122109600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr12:122092600-122095800	Weak transcription	Primary monocytes fromperipheralblood	blood
44	chr12:122092600-122095800	Weak transcription	Monocytes-CD14+_RO01746	blood
45	chr12:122092600-122096600	Weak transcription	Placenta	Placenta
46	chr12:122093000-122095400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
47	chr12:122093000-122095600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr12:122093000-122096400	Weak transcription	Thymus	Thymus
49	chr12:122093000-122096600	Weak transcription	Spleen	Spleen
50	chr12:122094000-122096400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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