Variant report

Variant	rs74126714
Chromosome Location	chr1:151877931-151877932
allele	A/G
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:151861522..151872673-chr1:151876647..151885029,20	MCF-7	breast:
2	chr1:151875998..151878434-chr1:151880509..151883027,2	MCF-7	breast:
3	chr1:151869363..151871176-chr1:151876802..151879330,2	K562	blood:
4	chr1:151869400..151872007-chr1:151876004..151878841,3	K562	blood:
5	chr1:151877897..151883557-chr1:152019456..152022411,7	K562	blood:
6	chr1:151843538..151846125-chr1:151876423..151878232,2	K562	blood:
7	chr1:151875575..151878356-chr1:151906918..151909478,2	MCF-7	breast:
8	chr1:151877100..151879105-chr1:151904662..151907156,2	K562	blood:
9	chr1:151833014..151835251-chr1:151876525..151878179,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000159445	Chromatin interaction
ENSG00000163191	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11204891	1.00[EUR][1000 genomes]
rs12083618	1.00[EUR][1000 genomes]
rs12083746	1.00[EUR][1000 genomes]
rs13374906	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13375166	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56139802	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57923558	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58275074	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74126720	1.00[AMR][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	nsv1007097	chr1:151832796-152227977	Strong transcription Genic enhancers Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	196 gene(s)	inside rSNPs	diseases
2	nsv1012327	chr1:151835544-152200890	Enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription Active TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	196 gene(s)	inside rSNPs	diseases
3	nsv535159	chr1:151835544-152200890	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	196 gene(s)	inside rSNPs	diseases
4	nsv547852	chr1:151843044-151955230	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
5	nsv872441	chr1:151850072-152034430	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	191 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:151831000-151881400	Weak transcription	Ovary	ovary
2	chr1:151841200-151880800	Weak transcription	NHLF	lung
3	chr1:151844400-151881200	Weak transcription	Aorta	Aorta
4	chr1:151854000-151880200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr1:151860800-151879800	Weak transcription	Brain Angular Gyrus	brain
6	chr1:151861600-151879800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr1:151862400-151880400	Weak transcription	Colon Smooth Muscle	Colon
8	chr1:151864800-151881400	Weak transcription	Brain Substantia Nigra	brain
9	chr1:151866200-151879600	Weak transcription	NHDF-Ad	bronchial
10	chr1:151866200-151880200	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr1:151866600-151879800	Weak transcription	Fetal Muscle Trunk	muscle
12	chr1:151867200-151879600	Weak transcription	Fetal Stomach	stomach
13	chr1:151867400-151878600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr1:151868000-151879800	Weak transcription	Liver	Liver
15	chr1:151868000-151880200	Weak transcription	Brain Hippocampus Middle	brain
16	chr1:151868000-151880400	Weak transcription	Stomach Smooth Muscle	stomach
17	chr1:151868000-151880800	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr1:151871400-151878800	Weak transcription	Lung	lung
19	chr1:151871400-151878800	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr1:151871400-151879800	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr1:151871400-151880400	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr1:151871800-151878800	Weak transcription	Thymus	Thymus
23	chr1:151872800-151880800	Weak transcription	Right Atrium	heart
24	chr1:151873000-151880800	Weak transcription	Brain Cingulate Gyrus	brain
25	chr1:151874400-151878600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr1:151874800-151880400	Weak transcription	Brain Anterior Caudate	brain
27	chr1:151875000-151879600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr1:151875000-151879800	Weak transcription	Fetal Lung	lung
29	chr1:151875200-151878200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr1:151875400-151878400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr1:151875400-151878400	Weak transcription	Pancreas	Pancrea
32	chr1:151875400-151879600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
33	chr1:151875400-151879600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr1:151875800-151879600	Weak transcription	Fetal Muscle Leg	muscle
35	chr1:151876400-151879600	Weak transcription	H9 Cell Line	embryonic stem cell
36	chr1:151876600-151878200	Weak transcription	Left Ventricle	heart
37	chr1:151876600-151881400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
38	chr1:151876800-151879200	Enhancers	Fetal Intestine Large	intestine
39	chr1:151877000-151878000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
40	chr1:151877000-151878200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
41	chr1:151877000-151878400	Flanking Active TSS	Primary T cells from cord blood	blood
42	chr1:151877000-151878600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
43	chr1:151877000-151880800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr1:151877200-151878000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr1:151877200-151878400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
46	chr1:151877200-151878400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
47	chr1:151877200-151878400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
48	chr1:151877200-151878400	Enhancers	Adipose Nuclei	Adipose
49	chr1:151877200-151878400	Strong transcription	A549	lung
50	chr1:151877200-151878600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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