Variant report

Variant	rs57440078
Chromosome Location	chr1:184835982-184835983
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs16823606	1.00[EUR][1000 genomes]
rs16823626	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16823651	1.00[EUR][1000 genomes]
rs2840217	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs57144153	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60903884	1.00[EUR][1000 genomes]
rs6673017	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6683230	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6690708	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73050643	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7520163	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001323	chr1:184525419-185315876	Weak transcription Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
2	nsv535222	chr1:184525419-185315876	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
3	nsv917126	chr1:184655366-184902273	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
4	nsv832048	chr1:184660146-184858802	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
5	nsv3843	chr1:184798670-184858114	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	nsv525731	chr1:184812165-185038104	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
7	nsv872585	chr1:184813885-184986725	Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
8	nsv872586	chr1:184814555-184948689	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
9	nsv872587	chr1:184820832-184986725	Enhancers Genic enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 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	chr1:184808400-184836000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr1:184808400-184836000	Weak transcription	NHEK	skin
3	chr1:184816800-184874200	Weak transcription	Esophagus	oesophagus
4	chr1:184821600-184842400	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr1:184821800-184836200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr1:184826400-184836800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr1:184826600-184836200	Weak transcription	Aorta	Aorta
8	chr1:184829200-184836200	Weak transcription	Left Ventricle	heart
9	chr1:184830400-184836200	Weak transcription	Right Ventricle	heart
10	chr1:184830800-184836200	Weak transcription	Psoas Muscle	Psoas
11	chr1:184831400-184836200	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr1:184831400-184836600	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr1:184831400-184874200	Weak transcription	Lung	lung
14	chr1:184831600-184836600	Weak transcription	Fetal Muscle Leg	muscle
15	chr1:184831600-184851600	Weak transcription	Fetal Muscle Trunk	muscle
16	chr1:184832400-184836200	Weak transcription	Right Atrium	heart
17	chr1:184832400-184847200	Weak transcription	Pancreas	Pancrea
18	chr1:184833000-184849400	Weak transcription	Fetal Heart	heart
19	chr1:184834400-184836600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr1:184834600-184837800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
21	chr1:184834600-184837800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
22	chr1:184834800-184837200	Enhancers	NHDF-Ad	bronchial
23	chr1:184834800-184837400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
24	chr1:184834800-184837600	Enhancers	Colon Smooth Muscle	Colon
25	chr1:184835000-184837400	Enhancers	Primary T killer memory cells from peripheral blood	blood
26	chr1:184835200-184836200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr1:184835200-184836200	Enhancers	Monocytes-CD14+_RO01746	blood
28	chr1:184835200-184836400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
29	chr1:184835200-184837600	Enhancers	Primary T helper naive cells from peripheral blood	blood
30	chr1:184835200-184840000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
31	chr1:184835400-184836200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr1:184835400-184837400	Enhancers	Breast Myoepithelial Primary Cells	Breast
33	chr1:184835400-184837600	Enhancers	Primary T helper cells PMA-I stimulated	--
34	chr1:184835400-184838200	Enhancers	Primary hematopoietic stem cells short term culture	blood
35	chr1:184835400-184838200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
36	chr1:184835600-184836200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr1:184835600-184836600	Active TSS	Primary B cells from cord blood	blood
38	chr1:184835600-184838000	Enhancers	Primary T helper cells fromperipheralblood	blood
39	chr1:184835800-184836000	Enhancers	Primary hematopoietic stem cells	blood
40	chr1:184835800-184836200	Flanking Active TSS	GM12878-XiMat	blood
41	chr1:184835800-184837200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr1:184835800-184837200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
43	chr1:184835800-184837200	Enhancers	Rectal Smooth Muscle	rectum
44	chr1:184835800-184837200	Enhancers	Stomach Smooth Muscle	stomach
45	chr1:184835800-184837200	Enhancers	HMEC	breast
46	chr1:184835800-184837200	Enhancers	NH-A	brain
47	chr1:184835800-184837200	Bivalent Enhancer	Osteobl	bone
48	chr1:184835800-184837400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr1:184835800-184837600	Enhancers	Muscle Satellite Cultured Cells	--
50	chr1:184835800-184838000	Enhancers	Primary B cells from peripheral blood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links