Variant report

Variant	rs209180
Chromosome Location	chr6:28793605-28793606
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:28788096..28790497-chr6:28791295..28793656,2	K562	blood:
2	chr6:28792315..28794351-chr6:28951949..28954807,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000227214	Chromatin interaction
ENSG00000244349	Chromatin interaction

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs1061625	0.81[ASN][1000 genomes]
rs172326	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1794588	0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs184094	0.85[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs2013652	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs209127	0.82[ASN][1000 genomes]
rs209140	0.88[ASN][1000 genomes]
rs209147	0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs209151	0.92[ASN][1000 genomes]
rs209165	0.84[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs209172	0.87[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs209177	0.87[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2097424	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2148007	0.85[ASN][1000 genomes]
rs2269553	0.81[ASN][1000 genomes]
rs28381661	0.89[ASN][1000 genomes]
rs28381663	0.87[ASN][1000 genomes]
rs28743260	0.89[ASN][1000 genomes]
rs2894066	0.81[ASN][1000 genomes]
rs3132377	0.81[ASN][1000 genomes]
rs3135314	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs413972	0.92[ASN][1000 genomes]
rs422331	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs429369	0.91[ASN][1000 genomes]
rs4484511	0.88[ASN][1000 genomes]
rs6909419	0.87[ASN][1000 genomes]
rs743847	0.86[ASN][1000 genomes]
rs7750338	0.91[ASN][1000 genomes]
rs7763940	0.89[ASN][1000 genomes]
rs7769221	0.91[ASN][1000 genomes]
rs7776376	0.89[ASN][1000 genomes]
rs9257269	0.87[ASN][1000 genomes]
rs9257270	0.87[ASN][1000 genomes]
rs9257274	0.88[ASN][1000 genomes]
rs9257280	0.85[ASN][1000 genomes]
rs9257281	0.86[ASN][1000 genomes]
rs9257328	0.91[ASN][1000 genomes]
rs929042	0.81[ASN][1000 genomes]
rs9368576	0.89[ASN][1000 genomes]
rs9378149	0.89[ASN][1000 genomes]
rs9393932	0.89[ASN][1000 genomes]
rs9393933	0.89[ASN][1000 genomes]
rs9404976	0.89[ASN][1000 genomes]

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	nsv534089	chr6:28636972-28841640	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
2	nsv883517	chr6:28751727-28802149	Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv883518	chr6:28792477-28911802	Active TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	56 gene(s)	inside rSNPs	diseases
4	nsv883519	chr6:28792477-28936556	Transcr. at gene 5' and 3' Genic enhancers Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:28791200-28794000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
2	chr6:28792400-28793800	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr6:28792400-28793800	Flanking Active TSS	K562	blood
4	chr6:28792600-28793800	Flanking Bivalent TSS/Enh	NHEK	skin
5	chr6:28792600-28794000	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
6	chr6:28792600-28794000	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
7	chr6:28792800-28793800	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
8	chr6:28792800-28794000	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
9	chr6:28792800-28794000	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
10	chr6:28793000-28793800	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
11	chr6:28793000-28793800	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
12	chr6:28793000-28793800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
13	chr6:28793000-28793800	Bivalent Enhancer	Fetal Stomach	stomach
14	chr6:28793000-28793800	Bivalent Enhancer	Spleen	Spleen
15	chr6:28793200-28793800	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
16	chr6:28793200-28793800	Enhancers	Pancreas	Pancrea
17	chr6:28793200-28793800	Bivalent/Poised TSS	HSMMtube	muscle
18	chr6:28793200-28794000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
19	chr6:28793400-28793800	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr6:28793400-28793800	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
21	chr6:28793400-28793800	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
22	chr6:28793400-28793800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr6:28793400-28793800	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
24	chr6:28793400-28793800	Bivalent Enhancer	Brain Hippocampus Middle	brain
25	chr6:28793400-28793800	Bivalent Enhancer	Placenta	Placenta
26	chr6:28793400-28793800	Bivalent Enhancer	HepG2	liver
27	chr6:28793600-28793800	Flanking Bivalent TSS/Enh	ES-WA7 Cell Line	embryonic stem cell
28	chr6:28793600-28793800	Bivalent Enhancer	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr6:28793600-28793800	Bivalent Enhancer	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr6:28793600-28793800	Flanking Bivalent TSS/Enh	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr6:28793600-28793800	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr6:28793600-28793800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr6:28793600-28793800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr6:28793600-28793800	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr6:28793600-28793800	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr6:28793600-28794000	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
37	chr6:28793600-28794000	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
38	chr6:28793600-28794000	Bivalent Enhancer	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr6:28793600-28794000	Bivalent Enhancer	HMEC	breast

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