Variant report

Variant	rs1247554
Chromosome Location	chr6:161188613-161188614
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:161183337..161185501-chr6:161187046..161189123,2	K562	blood:

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs1084656	0.91[ASN][1000 genomes]
rs1084658	0.91[ASN][1000 genomes]
rs11060	0.91[ASN][1000 genomes]
rs11902	0.91[ASN][1000 genomes]
rs1247541	0.81[ASN][1000 genomes]
rs1247551	0.91[ASN][1000 genomes]
rs1247552	0.91[ASN][1000 genomes]
rs1247553	1.00[ASN][1000 genomes]
rs1247555	0.91[ASN][1000 genomes]
rs1247556	0.91[ASN][1000 genomes]
rs1247557	0.91[ASN][1000 genomes]
rs1247558	0.91[ASN][1000 genomes]
rs1247561	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1247562	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1247563	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1247568	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1247570	0.90[ASN][1000 genomes]
rs1406890	0.91[ASN][1000 genomes]
rs1406891	0.91[ASN][1000 genomes]
rs1614840	0.90[ASN][1000 genomes]
rs1620921	0.90[ASN][1000 genomes]
rs1621801	0.90[ASN][1000 genomes]
rs1652463	0.81[ASN][1000 genomes]
rs1652471	0.81[ASN][1000 genomes]
rs1652482	0.81[ASN][1000 genomes]
rs1652499	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1652500	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1652502	0.91[ASN][1000 genomes]
rs1740442	0.90[ASN][1000 genomes]
rs1740443	0.90[ASN][1000 genomes]
rs1740444	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1830524	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28711930	0.81[ASN][1000 genomes]
rs783145	0.83[ASN][1000 genomes]
rs783159	0.91[ASN][1000 genomes]
rs783160	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs783161	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs783162	0.91[ASN][1000 genomes]
rs783164	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs783167	0.83[EUR][1000 genomes]
rs783171	0.91[ASN][1000 genomes]
rs783173	0.91[ASN][1000 genomes]
rs783174	0.91[ASN][1000 genomes]
rs783175	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs783177	0.91[ASN][1000 genomes]
rs783178	0.91[ASN][1000 genomes]
rs783180	0.91[ASN][1000 genomes]
rs783181	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs783182	0.91[ASN][1000 genomes]
rs9355844	0.81[ASN][1000 genomes]
rs9456598	0.81[ASN][1000 genomes]
rs9458048	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758089	chr6:160372244-161234665	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	esv2759484	chr6:160372244-161234665	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	nsv1019113	chr6:161127584-161197558	Enhancers Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	esv3352911	chr6:161140543-161324358	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv830853	chr6:161180005-161376481	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:161187000-161188800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr6:161187400-161188800	Active TSS	Fetal Brain Female	brain
3	chr6:161187600-161188800	Active TSS	Brain Anterior Caudate	brain
4	chr6:161187600-161188800	Enhancers	Fetal Lung	lung
5	chr6:161187600-161188800	Active TSS	NHEK	skin
6	chr6:161187800-161188800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
7	chr6:161187800-161188800	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
8	chr6:161187800-161188800	Active TSS	Brain Substantia Nigra	brain
9	chr6:161187800-161188800	Active TSS	Duodenum Smooth Muscle	Duodenum
10	chr6:161187800-161188800	Active TSS	Ovary	ovary
11	chr6:161187800-161189000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr6:161187800-161189000	Bivalent Enhancer	Fetal Heart	heart
13	chr6:161188000-161188800	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr6:161188000-161188800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr6:161188000-161188800	Active TSS	A549	lung
16	chr6:161188000-161188800	Active TSS	GM12878-XiMat	blood
17	chr6:161188000-161188800	Active TSS	NH-A	brain
18	chr6:161188000-161189400	Enhancers	Placenta	Placenta
19	chr6:161188200-161188800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
20	chr6:161188200-161188800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr6:161188200-161189000	Active TSS	Brain Inferior Temporal Lobe	brain
22	chr6:161188200-161189000	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
23	chr6:161188400-161188800	Bivalent Enhancer	Primary B cells from peripheral blood	blood
24	chr6:161188400-161188800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
25	chr6:161188600-161188800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
26	chr6:161188600-161188800	Enhancers	HUES64 Cell Line	embryonic stem cell
27	chr6:161188600-161188800	Active TSS	iPS-20b Cell Line	embryonic stem cell
28	chr6:161188600-161188800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
29	chr6:161188600-161188800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr6:161188600-161188800	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr6:161188600-161188800	Weak transcription	Brain Hippocampus Middle	brain
32	chr6:161188600-161188800	Flanking Active TSS	Colon Smooth Muscle	Colon
33	chr6:161188600-161188800	Bivalent Enhancer	Duodenum Mucosa	Duodenum
34	chr6:161188600-161188800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
35	chr6:161188600-161188800	Bivalent Enhancer	HepG2	liver
36	chr6:161188600-161189000	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
37	chr6:161188600-161189000	Enhancers	Breast Myoepithelial Primary Cells	Breast
38	chr6:161188600-161189000	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
39	chr6:161188600-161189000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr6:161188600-161189000	Bivalent Enhancer	Primary mononuclear cells fromperipheralblood	Blood
41	chr6:161188600-161189000	Flanking Active TSS	Brain Angular Gyrus	brain
42	chr6:161188600-161189000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
43	chr6:161188600-161189000	Enhancers	Fetal Intestine Large	intestine
44	chr6:161188600-161189000	Bivalent Enhancer	Fetal Intestine Small	intestine
45	chr6:161188600-161189000	Enhancers	Fetal Muscle Leg	muscle
46	chr6:161188600-161189000	Enhancers	Pancreas	Pancrea
47	chr6:161188600-161189000	Enhancers	Rectal Smooth Muscle	rectum
48	chr6:161188600-161189200	Enhancers	Liver	Liver
49	chr6:161188600-161189200	Enhancers	Fetal Kidney	kidney
50	chr6:161188600-161189200	Bivalent Enhancer	Fetal Stomach	stomach

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