Variant report

Variant	rs67144741
Chromosome Location	chr6:121756149-121756150
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	JUND	chr6:121756080-121756962	H1-hESC	embryonic stem cell:	n/a	n/a

Variant related genes	Relation type
GJA1	TF binding region

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10080593	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10080648	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17052912	0.89[AFR][1000 genomes]
rs17083560	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17083616	0.85[AFR][1000 genomes]
rs17083618	0.92[AFR][1000 genomes]
rs17647008	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1925219	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1925223	0.94[AFR][1000 genomes]
rs2071165	0.96[AFR][1000 genomes]
rs2892767	0.89[AFR][1000 genomes]
rs57946868	1.00[ASN][1000 genomes]
rs62427606	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62427607	0.88[AFR][1000 genomes]
rs6901938	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6911179	0.89[AFR][1000 genomes]
rs6917166	0.88[AFR][1000 genomes]
rs6932422	0.89[AFR][1000 genomes]
rs6933586	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73532207	0.96[AFR][1000 genomes]
rs73532213	0.92[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73532218	1.00[ASN][1000 genomes]
rs73532223	1.00[ASN][1000 genomes]
rs73532226	1.00[ASN][1000 genomes]
rs73532231	1.00[ASN][1000 genomes]
rs7738364	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7749457	0.80[AFR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9490223	0.81[EUR][1000 genomes]
rs9490227	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9490229	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9490230	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

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	nsv530527	chr6:121298528-121789855	ZNF genes & repeats Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:121752000-121756400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
2	chr6:121752000-121757400	Weak transcription	Brain Angular Gyrus	brain
3	chr6:121752200-121756400	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr6:121752200-121757400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr6:121752400-121756200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr6:121752400-121756600	Weak transcription	Fetal Lung	lung
7	chr6:121752600-121756400	Weak transcription	Stomach Smooth Muscle	stomach
8	chr6:121752800-121756400	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr6:121755200-121756600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr6:121755400-121756600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
11	chr6:121755600-121756200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr6:121755600-121756200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr6:121755600-121756200	Enhancers	Aorta	Aorta
14	chr6:121755600-121756200	Enhancers	NHDF-Ad	bronchial
15	chr6:121755600-121756200	Enhancers	Osteobl	bone
16	chr6:121755600-121756400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr6:121755600-121756400	Enhancers	H9 Cell Line	embryonic stem cell
18	chr6:121755600-121756400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr6:121755600-121756400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr6:121755600-121756400	Enhancers	Cortex derived primary cultured neurospheres	brain
21	chr6:121755600-121756400	Enhancers	A549	lung
22	chr6:121755600-121756600	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
23	chr6:121755600-121756600	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
24	chr6:121755600-121756600	Enhancers	Breast Myoepithelial Primary Cells	Breast
25	chr6:121755600-121756600	Enhancers	Right Ventricle	heart
26	chr6:121755600-121756600	Enhancers	NHEK	skin
27	chr6:121755600-121760000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr6:121755800-121756200	Weak transcription	Right Atrium	heart
29	chr6:121755800-121756400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr6:121755800-121756400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr6:121755800-121756400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr6:121755800-121756400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr6:121755800-121756400	Enhancers	HUVEC	blood vessel
34	chr6:121755800-121756600	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
35	chr6:121755800-121756600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
36	chr6:121755800-121756600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr6:121755800-121756600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr6:121755800-121756600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr6:121755800-121756600	Enhancers	NH-A	brain
40	chr6:121755800-121756800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr6:121755800-121757000	Active TSS	Fetal Heart	heart
42	chr6:121756000-121756600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
43	chr6:121756000-121756600	Weak transcription	Ovary	ovary
44	chr6:121756000-121756800	Weak transcription	Fetal Stomach	stomach
45	chr6:121756000-121758800	Active TSS	ES-I3 Cell Line	embryonic stem cell
46	chr6:121756000-121760400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr6:121756000-121760800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr6:121756000-121761600	Active TSS	H1 Cell Line	embryonic stem cell

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