Variant report

Variant	rs7770529
Chromosome Location	chr6:144272474-144272475
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:144270176..144273129-chr6:144278039..144279553,2	MCF-7	breast:
2	chr6:144271708..144274687-chr6:144275068..144276895,4	K562	blood:
3	chr6:144270317..144274728-chr6:144279631..144283640,6	MCF-7	breast:
4	chr6:144264258..144267462-chr6:144270879..144272952,3	K562	blood:
5	chr6:144268431..144270397-chr6:144272347..144274667,2	K562	blood:
6	chr6:144268897..144270515-chr6:144272347..144274105,2	K562	blood:

Variant related genes	Relation type
ENSG00000118495	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs13218225	1.00[YRI][hapmap]
rs9321953	1.00[YRI][hapmap]
rs9403540	1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3408554	chr6:144106707-144369589	Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	esv3522138	chr6:144174685-144367463	Enhancers Strong transcription ZNF genes & repeats Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	esv3522139	chr6:144174685-144367463	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv830830	chr6:144177942-144380870	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Strong transcription Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7770529	PLAGL1	cis	cerebellum	SCAN
rs7770529	C6orf94	cis	parietal	SCAN

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:144253200-144272600	Weak transcription	Primary B cells from peripheral blood	blood
2	chr6:144256600-144284400	Weak transcription	Aorta	Aorta
3	chr6:144258400-144288000	Weak transcription	Primary T cells from cord blood	blood
4	chr6:144261600-144285800	Weak transcription	Small Intestine	intestine
5	chr6:144261600-144287000	Weak transcription	GM12878-XiMat	blood
6	chr6:144263400-144280200	Weak transcription	Gastric	stomach
7	chr6:144266000-144274000	Strong transcription	Fetal Muscle Trunk	muscle
8	chr6:144266000-144277200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr6:144267200-144274400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr6:144267400-144279600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr6:144268000-144277200	Weak transcription	HMEC	breast
12	chr6:144268000-144281000	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr6:144268800-144273800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr6:144268800-144274200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr6:144268800-144282200	Weak transcription	Colon Smooth Muscle	Colon
16	chr6:144269000-144284400	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr6:144269200-144290200	Weak transcription	Fetal Thymus	thymus
18	chr6:144269400-144273200	Weak transcription	Fetal Brain Male	brain
19	chr6:144269400-144273400	Weak transcription	HSMMtube	muscle
20	chr6:144269400-144287400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr6:144269400-144289600	Weak transcription	Pancreas	Pancrea
22	chr6:144269600-144273400	Weak transcription	Fetal Brain Female	brain
23	chr6:144269600-144279400	Weak transcription	Osteobl	bone
24	chr6:144269600-144280200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr6:144269600-144280200	Weak transcription	Lung	lung
26	chr6:144269600-144281000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr6:144269600-144284800	Weak transcription	Duodenum Mucosa	Duodenum
28	chr6:144269600-144294000	Weak transcription	Primary neutrophils fromperipheralblood	blood
29	chr6:144269800-144273200	Enhancers	Fetal Intestine Large	intestine
30	chr6:144269800-144273600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr6:144269800-144274000	Weak transcription	Esophagus	oesophagus
32	chr6:144269800-144274200	Weak transcription	Brain Angular Gyrus	brain
33	chr6:144269800-144274800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr6:144269800-144274800	Weak transcription	Duodenum Smooth Muscle	Duodenum
35	chr6:144269800-144277400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr6:144269800-144280200	Weak transcription	Psoas Muscle	Psoas
37	chr6:144269800-144280600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr6:144269800-144280800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr6:144269800-144283000	Weak transcription	Left Ventricle	heart
40	chr6:144269800-144285200	Weak transcription	Spleen	Spleen
41	chr6:144269800-144286000	Weak transcription	Primary monocytes fromperipheralblood	blood
42	chr6:144269800-144286400	Weak transcription	Right Ventricle	heart
43	chr6:144269800-144286600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
44	chr6:144269800-144289800	Weak transcription	Ovary	ovary
45	chr6:144269800-144296000	Weak transcription	Placenta Amnion	Placenta Amnion
46	chr6:144269800-144304400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr6:144270000-144273600	Strong transcription	Fetal Muscle Leg	muscle
48	chr6:144270000-144274600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr6:144270000-144276600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
50	chr6:144270000-144279400	Weak transcription	Fetal Kidney	kidney

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