Variant report

Variant	rs58129044
Chromosome Location	chr2:54711713-54711714
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:54711498..54713391-chr2:54714675..54717364,2	K562	blood:

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs57976087	1.00[AFR][1000 genomes]
rs73932842	1.00[AFR][1000 genomes]
rs73934322	0.80[AFR][1000 genomes]
rs73934324	0.80[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1011790	chr2:54220049-54714553	Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	nsv874150	chr2:54684557-54755229	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv874151	chr2:54684557-54761329	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv1004645	chr2:54686497-54718440	Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv1008888	chr2:54690695-54715300	Weak transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	nsv438348	chr2:54693204-54714066	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	nsv817939	chr2:54693204-54718181	Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
8	nsv998277	chr2:54710337-54849648	Genic enhancers Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:54701600-54715400	Weak transcription	Fetal Kidney	kidney
2	chr2:54702200-54712200	Enhancers	Fetal Heart	heart
3	chr2:54702400-54712000	Enhancers	Colon Smooth Muscle	Colon
4	chr2:54705200-54712400	Enhancers	Brain Hippocampus Middle	brain
5	chr2:54707200-54712000	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr2:54707200-54712200	Enhancers	Brain Cingulate Gyrus	brain
7	chr2:54707200-54712400	Enhancers	Brain Substantia Nigra	brain
8	chr2:54707600-54717600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr2:54707800-54712000	Enhancers	Psoas Muscle	Psoas
10	chr2:54707800-54720800	Weak transcription	Primary hematopoietic stem cells	blood
11	chr2:54708000-54712400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr2:54708200-54711800	Weak transcription	Stomach Mucosa	stomach
13	chr2:54708800-54712000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr2:54708800-54712000	Genic enhancers	Fetal Lung	lung
15	chr2:54709000-54712200	Enhancers	Brain Anterior Caudate	brain
16	chr2:54709000-54712400	Enhancers	Placenta Amnion	Placenta Amnion
17	chr2:54709200-54711800	Enhancers	Spleen	Spleen
18	chr2:54709200-54712000	Enhancers	Right Ventricle	heart
19	chr2:54709600-54711800	Enhancers	HMEC	breast
20	chr2:54709600-54712000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr2:54709600-54712000	Enhancers	HUVEC	blood vessel
22	chr2:54709600-54712600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr2:54710000-54711800	Enhancers	Small Intestine	intestine
24	chr2:54710200-54712000	Enhancers	Rectal Smooth Muscle	rectum
25	chr2:54710200-54712400	Enhancers	Brain Inferior Temporal Lobe	brain
26	chr2:54710400-54712000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
27	chr2:54710400-54712000	Genic enhancers	Fetal Muscle Leg	muscle
28	chr2:54710600-54711800	Enhancers	Duodenum Smooth Muscle	Duodenum
29	chr2:54710600-54711800	Enhancers	Skeletal Muscle Female	skeletal muscle
30	chr2:54710600-54712000	Enhancers	Adipose Nuclei	Adipose
31	chr2:54710600-54725000	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr2:54710800-54711800	Weak transcription	HUES64 Cell Line	embryonic stem cell
33	chr2:54710800-54711800	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
34	chr2:54710800-54711800	Enhancers	Stomach Smooth Muscle	stomach
35	chr2:54710800-54711800	Enhancers	NHLF	lung
36	chr2:54710800-54712000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr2:54710800-54712000	Enhancers	Right Atrium	heart
38	chr2:54710800-54712200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr2:54710800-54712200	Enhancers	Brain Angular Gyrus	brain
40	chr2:54710800-54712600	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
41	chr2:54710800-54715400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
42	chr2:54710800-54715400	Weak transcription	Cortex derived primary cultured neurospheres	brain
43	chr2:54710800-54715400	Weak transcription	K562	blood
44	chr2:54710800-54729600	Weak transcription	Rectal Mucosa Donor 29	rectum
45	chr2:54711000-54711800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr2:54711000-54711800	Enhancers	Osteobl	bone
47	chr2:54711000-54712000	Enhancers	NHDF-Ad	bronchial
48	chr2:54711200-54711800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr2:54711200-54711800	Enhancers	NH-A	brain
50	chr2:54711200-54712000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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