Variant report

Variant	rs6697823
Chromosome Location	chr1:114525319-114525320
allele	C/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	chr1:114524706..114527224-chr1:114758079..114759790,2	MCF-7	breast:
2	chr1:114524848..114527263-chr1:114536709..114538580,2	MCF-7	breast:
3	chr1:114524656..114527176-chr1:114534209..114536962,2	K562	blood:
4	chr1:114524538..114527431-chr1:114576171..114578316,2	MCF-7	breast:
5	chr1:114523957..114526156-chr16:67217978..67219734,2	MCF-7	breast:
6	chr1:114524519..114527329-chr1:114827145..114829580,2	MCF-7	breast:
7	chr1:114523401..114526223-chr1:114556190..114558490,2	MCF-7	breast:
8	chr1:114519994..114522230-chr1:114524239..114526511,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000179044	Chromatin interaction
ENSG00000116774	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs11803486	1.00[EUR][1000 genomes]
rs11805257	1.00[EUR][1000 genomes]
rs6537801	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6663888	1.00[EUR][1000 genomes]
rs6698421	1.00[EUR][1000 genomes]
rs74111914	1.00[EUR][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	esv2752424	chr1:114189958-114712958	Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	96 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:114518400-114525600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
2	chr1:114518800-114525800	Weak transcription	Esophagus	oesophagus
3	chr1:114519800-114527000	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr1:114521600-114526600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
5	chr1:114521600-114527000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr1:114522200-114525600	Weak transcription	Gastric	stomach
7	chr1:114522200-114525600	Weak transcription	Psoas Muscle	Psoas
8	chr1:114522200-114526000	Weak transcription	Primary T cells fromperipheralblood	blood
9	chr1:114522200-114526200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr1:114522400-114525600	Weak transcription	Right Ventricle	heart
11	chr1:114522400-114527400	Flanking Active TSS	Stomach Smooth Muscle	stomach
12	chr1:114522800-114525600	Weak transcription	Brain Angular Gyrus	brain
13	chr1:114522800-114526200	Weak transcription	Brain Cingulate Gyrus	brain
14	chr1:114523000-114525400	Weak transcription	Brain Germinal Matrix	brain
15	chr1:114523000-114525400	Weak transcription	Fetal Brain Male	brain
16	chr1:114523000-114525600	Weak transcription	Left Ventricle	heart
17	chr1:114523000-114526200	Weak transcription	Fetal Brain Female	brain
18	chr1:114523000-114526400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr1:114523000-114526600	Weak transcription	HUVEC	blood vessel
20	chr1:114523200-114526000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr1:114523400-114527200	Enhancers	Placenta Amnion	Placenta Amnion
22	chr1:114523600-114525400	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr1:114523800-114526600	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr1:114523800-114526600	Flanking Active TSS	HSMM	muscle
25	chr1:114523800-114534600	Weak transcription	Primary T cells from cord blood	blood
26	chr1:114524000-114526400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr1:114524000-114527800	Enhancers	Primary hematopoietic stem cells short term culture	blood
28	chr1:114524200-114525400	Enhancers	iPS-18 Cell Line	embryonic stem cell
29	chr1:114524200-114526400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
30	chr1:114524200-114526600	Enhancers	H1 Cell Line	embryonic stem cell
31	chr1:114524200-114526600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr1:114524400-114525800	Enhancers	HUES64 Cell Line	embryonic stem cell
33	chr1:114524400-114526200	Enhancers	Primary monocytes fromperipheralblood	blood
34	chr1:114524400-114526400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr1:114524400-114526800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr1:114524400-114527000	Flanking Active TSS	Fetal Lung	lung
37	chr1:114524400-114528000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr1:114524600-114526000	Enhancers	NH-A	brain
39	chr1:114524600-114526000	Flanking Active TSS	NHDF-Ad	bronchial
40	chr1:114524600-114526000	Flanking Active TSS	Osteobl	bone
41	chr1:114524600-114526200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr1:114524600-114526400	Flanking Active TSS	Fetal Intestine Large	intestine
43	chr1:114524600-114526600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr1:114524600-114526600	Flanking Active TSS	Adipose Nuclei	Adipose
45	chr1:114524600-114526600	Enhancers	Fetal Heart	heart
46	chr1:114524600-114526600	Enhancers	Pancreas	Pancrea
47	chr1:114524600-114526800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
48	chr1:114524800-114525400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr1:114524800-114525400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr1:114524800-114525400	Active TSS	Fetal Stomach	stomach

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