Variant report

Variant	rs61784802
Chromosome Location	chr1:46179251-46179252
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs12402259	0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs61783167	0.90[AFR][1000 genomes]
rs61783196	0.90[AFR][1000 genomes]
rs61783251	0.82[AFR][1000 genomes]
rs61784820	0.95[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529631	chr1:45905936-46335246	Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	207 gene(s)	inside rSNPs	diseases
2	nsv932680	chr1:45935520-46686477	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	232 gene(s)	inside rSNPs	diseases
3	nsv868828	chr1:45953923-46686477	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	232 gene(s)	inside rSNPs	diseases
4	nsv871928	chr1:46024701-46609736	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	123 gene(s)	inside rSNPs	diseases
5	nsv1011587	chr1:46051672-46244492	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
6	nsv1014128	chr1:46097670-46394540	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
7	nsv1010054	chr1:46144479-46320493	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
8	nsv1006861	chr1:46144479-46417621	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
9	nsv1003049	chr1:46144479-46476149	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
10	nsv870511	chr1:46148138-46245423	Enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
11	nsv871233	chr1:46153203-46311275	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
12	nsv1008219	chr1:46160098-46493958	Genic enhancers Strong transcription ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
13	nsv534943	chr1:46160098-46493958	Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
14	nsv1000498	chr1:46171836-46438252	Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:46154600-46180000	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr1:46154600-46188600	Weak transcription	Fetal Heart	heart
3	chr1:46154600-46206600	Weak transcription	Brain Substantia Nigra	brain
4	chr1:46154800-46186000	Weak transcription	Psoas Muscle	Psoas
5	chr1:46154800-46192600	Weak transcription	Pancreas	Pancrea
6	chr1:46155000-46185200	Weak transcription	Colonic Mucosa	Colon
7	chr1:46155000-46187000	Weak transcription	NHLF	lung
8	chr1:46155000-46215800	Weak transcription	Small Intestine	intestine
9	chr1:46155600-46204600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr1:46155800-46188400	Weak transcription	Hela-S3	cervix
11	chr1:46155800-46215600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr1:46156800-46203800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr1:46157400-46209800	Weak transcription	Brain Cingulate Gyrus	brain
14	chr1:46159800-46186800	Weak transcription	HSMMtube	muscle
15	chr1:46159800-46188000	Weak transcription	Right Ventricle	heart
16	chr1:46159800-46194800	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr1:46160400-46180000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr1:46160400-46186800	Weak transcription	NH-A	brain
19	chr1:46160600-46188600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr1:46160800-46215400	Weak transcription	Brain Hippocampus Middle	brain
21	chr1:46161000-46196200	Weak transcription	NHEK	skin
22	chr1:46161200-46192800	Weak transcription	Spleen	Spleen
23	chr1:46161200-46196000	Weak transcription	GM12878-XiMat	blood
24	chr1:46161200-46206600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
25	chr1:46161400-46192000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr1:46162200-46192600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr1:46162600-46186600	Weak transcription	NHDF-Ad	bronchial
28	chr1:46162600-46191400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
29	chr1:46163000-46179600	Weak transcription	Fetal Brain Female	brain
30	chr1:46163000-46186800	Weak transcription	HSMM	muscle
31	chr1:46163600-46186200	Weak transcription	Brain Anterior Caudate	brain
32	chr1:46163600-46196200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr1:46163600-46197400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr1:46163600-46215600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
35	chr1:46165600-46207000	Weak transcription	Colon Smooth Muscle	Colon
36	chr1:46165800-46188400	Weak transcription	K562	blood
37	chr1:46166800-46179800	Weak transcription	Primary B cells from cord blood	blood
38	chr1:46171200-46185800	Weak transcription	HepG2	liver
39	chr1:46172000-46179800	Weak transcription	Osteobl	bone
40	chr1:46174600-46192600	Weak transcription	Thymus	Thymus
41	chr1:46174600-46192800	Weak transcription	Placenta Amnion	Placenta Amnion
42	chr1:46174600-46206400	Weak transcription	Brain Germinal Matrix	brain
43	chr1:46174600-46215600	Weak transcription	Brain Angular Gyrus	brain
44	chr1:46174600-46215600	Weak transcription	Esophagus	oesophagus
45	chr1:46175000-46179800	Weak transcription	Dnd41	blood
46	chr1:46175000-46180000	Weak transcription	Stomach Smooth Muscle	stomach
47	chr1:46175000-46182000	Weak transcription	Left Ventricle	heart
48	chr1:46175000-46196400	Weak transcription	HUES6 Cell Line	embryonic stem cell
49	chr1:46176600-46180000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr1:46176600-46181200	Strong transcription	Fetal Intestine Small	intestine

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