Variant report

Variant	rs7759803
Chromosome Location	chr6:30812519-30812520
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:30709488..30712315-chr6:30811079..30813946,2	MCF-7	breast:
2	chr6:30811247..30813730-chr6:30844224..30845960,2	K562	blood:
3	chr6:30807003..30808509-chr6:30812271..30813825,2	K562	blood:
4	chr6:30812341..30814301-chr6:30849835..30851966,2	K562	blood:
5	chr6:30718958..30721409-chr6:30812435..30814738,2	MCF-7	breast:
6	chr6:30810334..30813136-chr6:30813626..30816587,2	K562	blood:
7	chr6:30736584..30738500-chr6:30812126..30813733,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000272273	Chromatin interaction
ENSG00000204580	Chromatin interaction
ENSG00000137312	Chromatin interaction
ENSG00000237923	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs11757306	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11757361	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11758183	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1264350	0.86[ASN][1000 genomes]
rs28744105	0.86[ASN][1000 genomes]
rs55745908	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57065637	0.86[ASN][1000 genomes]
rs57817411	0.86[ASN][1000 genomes]
rs58554612	0.86[ASN][1000 genomes]
rs58594197	0.86[ASN][1000 genomes]
rs6457281	1.00[ASN][1000 genomes]
rs6930910	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73425726	0.86[ASN][1000 genomes]
rs73432796	0.86[ASN][1000 genomes]
rs73432800	0.86[ASN][1000 genomes]
rs73434604	0.86[ASN][1000 genomes]
rs73434608	0.86[ASN][1000 genomes]
rs73437885	0.86[ASN][1000 genomes]
rs73727119	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73727120	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs73727123	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7746003	1.00[ASN][1000 genomes]
rs7751952	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3519970	chr6:30382942-31378788	Genic enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1030 gene(s)	inside rSNPs	diseases
2	esv3519971	chr6:30382942-31378788	Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1030 gene(s)	inside rSNPs	diseases
3	nsv601481	chr6:30422632-31284253	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1012 gene(s)	inside rSNPs	diseases
4	esv3430377	chr6:30443802-30814426	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	967 gene(s)	inside rSNPs	diseases
5	esv2758041	chr6:30644693-30816319	Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	223 gene(s)	inside rSNPs	diseases
6	esv2759413	chr6:30644693-30816319	Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	223 gene(s)	inside rSNPs	diseases
7	nsv1015372	chr6:30704734-31582152	Active TSS Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	334 gene(s)	inside rSNPs	diseases
8	nsv538173	chr6:30704734-31582152	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	334 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:30806800-30816200	Enhancers	Placenta	Placenta
2	chr6:30808200-30813600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr6:30810000-30813400	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr6:30810800-30812600	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr6:30810800-30812600	Enhancers	Fetal Lung	lung
6	chr6:30810800-30812800	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr6:30810800-30813400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr6:30810800-30814000	Genic enhancers	HUES6 Cell Line	embryonic stem cell
9	chr6:30811000-30812600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr6:30811000-30812600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr6:30811000-30812600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr6:30811000-30812600	Enhancers	Gastric	stomach
13	chr6:30811000-30812600	Enhancers	Left Ventricle	heart
14	chr6:30811000-30812600	Enhancers	Right Atrium	heart
15	chr6:30811000-30812600	Enhancers	HSMM	muscle
16	chr6:30811000-30813200	Enhancers	Ovary	ovary
17	chr6:30811000-30813600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr6:30811000-30813600	Enhancers	Cortex derived primary cultured neurospheres	brain
19	chr6:30811000-30813800	Enhancers	ES-I3 Cell Line	embryonic stem cell
20	chr6:30811000-30814000	Genic enhancers	ES-UCSF4 Cell Line	embryonic stem cell
21	chr6:30811000-30814200	Genic enhancers	H1 Cell Line	embryonic stem cell
22	chr6:30811200-30812600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr6:30811200-30812600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr6:30811200-30812600	Enhancers	Placenta Amnion	Placenta Amnion
25	chr6:30811200-30812600	Flanking Active TSS	Dnd41	blood
26	chr6:30811200-30812600	Enhancers	NH-A	brain
27	chr6:30811200-30813400	Genic enhancers	iPS-20b Cell Line	embryonic stem cell
28	chr6:30811200-30813800	Genic enhancers	iPS-18 Cell Line	embryonic stem cell
29	chr6:30811400-30812600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr6:30811400-30812600	Genic enhancers	H9 Cell Line	embryonic stem cell
31	chr6:30811400-30813200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
32	chr6:30811400-30813600	Genic enhancers	HUES48 Cell Line	embryonic stem cell
33	chr6:30811600-30812600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr6:30811600-30813800	Enhancers	iPS-15b Cell Line	embryonic stem cell
35	chr6:30811800-30812600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr6:30811800-30812600	Enhancers	Esophagus	oesophagus
37	chr6:30811800-30813000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr6:30811800-30813800	Enhancers	Fetal Heart	heart
39	chr6:30812000-30812600	Enhancers	A549	lung
40	chr6:30812000-30812600	Enhancers	NHEK	skin
41	chr6:30812000-30814800	Weak transcription	Fetal Kidney	kidney
42	chr6:30812000-30815400	Enhancers	Thymus	Thymus
43	chr6:30812000-30816200	Enhancers	Fetal Thymus	thymus
44	chr6:30812200-30812600	Enhancers	Spleen	Spleen
45	chr6:30812200-30812600	Weak transcription	K562	blood
46	chr6:30812200-30812800	Weak transcription	Fetal Intestine Small	intestine
47	chr6:30812200-30813400	Weak transcription	Fetal Intestine Large	intestine
48	chr6:30812200-30815000	Weak transcription	Adipose Nuclei	Adipose
49	chr6:30812400-30812600	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr6:30812400-30812600	Genic enhancers	iPS DF 6.9 Cell Line	embryonic stem cell

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