Variant report

Variant	rs1925223
Chromosome Location	chr6:121755819-121755820
allele	C/G
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	KAP1	chr6:121755463-121755965	U2OS	brain:	n/a	n/a
2	RAD21	chr6:121755653-121755917	IMR90	lung:	n/a	chr6:121755906-121755913
3	USF1	chr6:121755591-121755905	SK-N-SH_RA	brain:	n/a	n/a
4	RAD21	chr6:121755550-121755902	SK-N-SH_RA	brain:	n/a	n/a
5	USF1	chr6:121755630-121755899	A549	lung:	n/a	n/a
6	USF1	chr6:121755597-121755921	SK-N-SH_RA	brain:	n/a	n/a
7	USF1	chr6:121755598-121755965	H1-hESC	embryonic stem cell:	n/a	n/a
8	CTCF	chr6:121755780-121755930	BJ	skin:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:121753097..121755980-chr6:121757909..121760037,2	K562	blood:

Variant related genes	Relation type
GJA1	TF binding region

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs17052912	0.91[AFR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17083518	0.82[ASN][1000 genomes]
rs17083522	0.85[ASN][1000 genomes]
rs17083533	0.86[ASN][1000 genomes]
rs17083616	0.87[AFR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17083618	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17083633	0.87[ASN][1000 genomes]
rs2071165	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2071166	0.99[ASN][1000 genomes]
rs2892767	0.91[AFR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3763174	0.92[ASN][1000 genomes]
rs3805785	0.87[ASN][1000 genomes]
rs3805786	0.92[ASN][1000 genomes]
rs3805788	0.99[ASN][1000 genomes]
rs57887263	0.80[ASN][1000 genomes]
rs62427606	0.81[AFR][1000 genomes]
rs62427607	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs67144741	0.94[AFR][1000 genomes]
rs6901938	0.94[AFR][1000 genomes]
rs6911179	0.91[AFR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6917166	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6932422	0.91[AFR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73532207	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73532213	0.87[AFR][1000 genomes]
rs73532215	0.97[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:50 , 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	chr6:121755200-121756000	Enhancers	Ovary	ovary
10	chr6:121755200-121756600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr6:121755400-121756000	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr6:121755400-121756600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
13	chr6:121755600-121756000	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
14	chr6:121755600-121756000	Enhancers	H1 Cell Line	embryonic stem cell
15	chr6:121755600-121756000	Enhancers	Fetal Stomach	stomach
16	chr6:121755600-121756200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr6:121755600-121756200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr6:121755600-121756200	Enhancers	Aorta	Aorta
19	chr6:121755600-121756200	Enhancers	NHDF-Ad	bronchial
20	chr6:121755600-121756200	Enhancers	Osteobl	bone
21	chr6:121755600-121756400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr6:121755600-121756400	Enhancers	H9 Cell Line	embryonic stem cell
23	chr6:121755600-121756400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr6:121755600-121756400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr6:121755600-121756400	Enhancers	Cortex derived primary cultured neurospheres	brain
26	chr6:121755600-121756400	Enhancers	A549	lung
27	chr6:121755600-121756600	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
28	chr6:121755600-121756600	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
29	chr6:121755600-121756600	Enhancers	Breast Myoepithelial Primary Cells	Breast
30	chr6:121755600-121756600	Enhancers	Right Ventricle	heart
31	chr6:121755600-121756600	Enhancers	NHEK	skin
32	chr6:121755600-121760000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr6:121755800-121756000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr6:121755800-121756000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr6:121755800-121756000	Enhancers	Brain Germinal Matrix	brain
36	chr6:121755800-121756000	Enhancers	Duodenum Smooth Muscle	Duodenum
37	chr6:121755800-121756200	Weak transcription	Right Atrium	heart
38	chr6:121755800-121756400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr6:121755800-121756400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr6:121755800-121756400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr6:121755800-121756400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr6:121755800-121756400	Enhancers	HUVEC	blood vessel
43	chr6:121755800-121756600	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
44	chr6:121755800-121756600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
45	chr6:121755800-121756600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr6:121755800-121756600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr6:121755800-121756600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr6:121755800-121756600	Enhancers	NH-A	brain
49	chr6:121755800-121756800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr6:121755800-121757000	Active TSS	Fetal Heart	heart

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