Variant report

Variant	rs6698989
Chromosome Location	chr1:225799101-225799102
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:225798177..225800708-chr1:225805039..225808284,3	MCF-7	breast:
2	chr1:225799000..225801839-chr1:225807483..225809407,2	K562	blood:
3	chr1:225797988..225799782-chr1:225821584..225823329,2	K562	blood:
4	chr1:225798398..225800029-chr1:225812208..225813908,2	MCF-7	breast:
5	chr1:225798231..225800711-chr1:225840613..225842795,2	MCF-7	breast:
6	chr1:225792909..225795707-chr1:225797297..225800991,3	K562	blood:
7	chr1:225792350..225796305-chr1:225796696..225799620,4	MCF-7	breast:
8	chr1:225724969..225726561-chr1:225797392..225799589,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000154380	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs11801322	0.90[AFR][1000 genomes]
rs11808089	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28617210	0.85[AFR][1000 genomes]
rs57616580	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58221350	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58384340	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59481688	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60271197	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60588592	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6426081	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6666276	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6687755	0.98[AFR][1000 genomes]
rs6687947	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6696683	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6702446	1.00[ASN][1000 genomes]
rs73124025	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73125705	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73125706	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7515673	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7531033	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7555097	0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832714	chr1:225592333-225805396	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv832725	chr1:225726998-225910121	Weak transcription Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:225748800-225799400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr1:225760000-225820600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr1:225768800-225805600	Weak transcription	Aorta	Aorta
4	chr1:225780800-225815400	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr1:225781000-225825400	Weak transcription	Fetal Stomach	stomach
6	chr1:225782400-225806200	Weak transcription	Right Ventricle	heart
7	chr1:225784200-225807800	Weak transcription	Fetal Brain Male	brain
8	chr1:225785200-225800000	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr1:225791600-225799600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr1:225791600-225802000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr1:225792000-225799600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr1:225792000-225805000	Weak transcription	NHDF-Ad	bronchial
13	chr1:225792200-225800000	Weak transcription	Hela-S3	cervix
14	chr1:225792800-225799600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr1:225793000-225799200	Weak transcription	NHEK	skin
16	chr1:225793200-225799600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr1:225793600-225799400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr1:225793600-225813200	Weak transcription	Left Ventricle	heart
19	chr1:225793600-225813800	Weak transcription	NH-A	brain
20	chr1:225794400-225800000	Weak transcription	Spleen	Spleen
21	chr1:225794600-225800000	Weak transcription	Pancreas	Pancrea
22	chr1:225794600-225813200	Weak transcription	Lung	lung
23	chr1:225795000-225806000	Weak transcription	Small Intestine	intestine
24	chr1:225795600-225799600	Weak transcription	HepG2	liver
25	chr1:225795600-225800000	Weak transcription	Gastric	stomach
26	chr1:225795600-225802200	Weak transcription	Brain Cingulate Gyrus	brain
27	chr1:225795600-225805000	Weak transcription	HSMMtube	muscle
28	chr1:225795600-225805400	Weak transcription	NHLF	lung
29	chr1:225795600-225813200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr1:225795600-225813200	Weak transcription	Psoas Muscle	Psoas
31	chr1:225795600-225813800	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr1:225795800-225802000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
33	chr1:225795800-225802000	Weak transcription	Brain Hippocampus Middle	brain
34	chr1:225796400-225800000	Weak transcription	Stomach Smooth Muscle	stomach
35	chr1:225796400-225802000	Weak transcription	Fetal Muscle Leg	muscle
36	chr1:225796400-225810200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr1:225796400-225812600	Weak transcription	Right Atrium	heart
38	chr1:225796600-225799400	Weak transcription	Ovary	ovary
39	chr1:225796600-225812200	Weak transcription	Fetal Muscle Trunk	muscle
40	chr1:225797000-225802200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr1:225797200-225799400	Weak transcription	Fetal Lung	lung
42	chr1:225797200-225799800	Weak transcription	Colon Smooth Muscle	Colon
43	chr1:225797200-225800000	Weak transcription	Duodenum Smooth Muscle	Duodenum
44	chr1:225797200-225800800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
45	chr1:225797200-225800800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr1:225797200-225802200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr1:225797200-225802200	Weak transcription	Brain Substantia Nigra	brain
48	chr1:225797200-225806200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
49	chr1:225797200-225815200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr1:225797400-225800800	Weak transcription	Cortex derived primary cultured neurospheres	brain

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