Variant report

Variant	rs2071165
Chromosome Location	chr6:121756209-121756210
allele	A/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	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: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs17052912	0.92[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	0.89[AFR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17083618	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17083633	0.93[CHB][hapmap];0.95[JPT][hapmap];0.87[ASN][1000 genomes]
rs1925223	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2071166	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs2892767	0.92[AFR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3763174	1.00[CHB][hapmap];0.84[JPT][hapmap];0.92[ASN][1000 genomes]
rs3805785	0.93[CHB][hapmap];0.95[JPT][hapmap];0.87[ASN][1000 genomes]
rs3805786	0.92[ASN][1000 genomes]
rs3805788	0.99[ASN][1000 genomes]
rs57887263	0.80[ASN][1000 genomes]
rs62427606	0.83[AFR][1000 genomes]
rs62427607	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs67144741	0.96[AFR][1000 genomes]
rs6901938	1.00[YRI][hapmap];0.96[AFR][1000 genomes]
rs6911179	0.92[AFR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6917166	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.91[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6932422	0.92[AFR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73532207	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73532213	0.88[AFR][1000 genomes]
rs73532215	0.97[ASN][1000 genomes]
rs7749457	0.81[AFR][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:54 , 50 per page) page: 1 2

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	chr6:121752400-121756600	Weak transcription	Fetal Lung	lung
6	chr6:121752600-121756400	Weak transcription	Stomach Smooth Muscle	stomach
7	chr6:121752800-121756400	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr6:121755200-121756600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr6:121755400-121756600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
10	chr6:121755600-121756400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr6:121755600-121756400	Enhancers	H9 Cell Line	embryonic stem cell
12	chr6:121755600-121756400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr6:121755600-121756400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr6:121755600-121756400	Enhancers	Cortex derived primary cultured neurospheres	brain
15	chr6:121755600-121756400	Enhancers	A549	lung
16	chr6:121755600-121756600	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
17	chr6:121755600-121756600	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
18	chr6:121755600-121756600	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr6:121755600-121756600	Enhancers	Right Ventricle	heart
20	chr6:121755600-121756600	Enhancers	NHEK	skin
21	chr6:121755600-121760000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr6:121755800-121756400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr6:121755800-121756400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr6:121755800-121756400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr6:121755800-121756400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr6:121755800-121756400	Enhancers	HUVEC	blood vessel
27	chr6:121755800-121756600	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
28	chr6:121755800-121756600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
29	chr6:121755800-121756600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr6:121755800-121756600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr6:121755800-121756600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr6:121755800-121756600	Enhancers	NH-A	brain
33	chr6:121755800-121756800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr6:121755800-121757000	Active TSS	Fetal Heart	heart
35	chr6:121756000-121756600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
36	chr6:121756000-121756600	Weak transcription	Ovary	ovary
37	chr6:121756000-121756800	Weak transcription	Fetal Stomach	stomach
38	chr6:121756000-121758800	Active TSS	ES-I3 Cell Line	embryonic stem cell
39	chr6:121756000-121760400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr6:121756000-121760800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr6:121756000-121761600	Active TSS	H1 Cell Line	embryonic stem cell
42	chr6:121756200-121756400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr6:121756200-121756400	Enhancers	HMEC	breast
44	chr6:121756200-121756600	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr6:121756200-121756600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr6:121756200-121756600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr6:121756200-121756600	Enhancers	Fetal Intestine Small	intestine
48	chr6:121756200-121756600	Flanking Active TSS	NHDF-Ad	bronchial
49	chr6:121756200-121756600	Flanking Active TSS	Osteobl	bone
50	chr6:121756200-121756800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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