Variant report

Variant	rs74130254
Chromosome Location	chr10:49572024-49572025
allele	A/C
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:20)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:20 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:49570710..49573542-chr10:49731665..49733795,2	K562	blood:
2	chr10:49571219..49572252-chr10:49713441..49714210,3	MCF-7	breast:
3	chr10:49571674..49573268-chr10:49594315..49596996,2	K562	blood:
4	chr10:49571307..49572098-chr10:49717849..49718757,3	MCF-7	breast:
5	chr10:49570787..49573176-chr10:49651060..49654395,3	MCF-7	breast:
6	chr10:49571458..49572711-chr10:49713545..49714151,3	MCF-7	breast:
7	chr10:49571485..49572253-chr10:49714436..49715142,2	MCF-7	breast:
8	chr10:49571331..49572802-chr10:49714283..49715560,20	K562	blood:
9	chr10:49571319..49572300-chr10:49717652..49718657,4	MCF-7	breast:
10	chr10:49571808..49574150-chr10:49719322..49721879,2	K562	blood:
11	chr10:49571145..49574084-chr10:49715215..49717894,2	MCF-7	breast:
12	chr10:49571331..49572227-chr10:49731692..49732606,3	K562	blood:
13	chr10:49571202..49572251-chr10:49863994..49864953,8	K562	blood:
14	chr10:49514736..49516634-chr10:49571797..49574656,2	K562	blood:
15	chr10:49571231..49572227-chr10:49652604..49653258,3	MCF-7	breast:
16	chr10:49571375..49572211-chr10:49714319..49715238,7	MCF-7	breast:
17	chr10:49571896..49573651-chr10:49713045..49714727,3	K562	blood:
18	chr10:49571755..49572288-chr10:49743646..49744248,2	K562	blood:
19	chr10:49570196..49573404-chr10:49729951..49734102,5	K562	blood:
20	chr10:49571889..49574086-chr10:49706276..49707792,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000128805	Chromatin interaction
ENSG00000107643	Chromatin interaction
ENSG00000248682	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs74130283	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv895366	chr10:49299274-49576454	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv467190	chr10:49402084-49576878	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv550811	chr10:49402084-49576878	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv895371	chr10:49492075-50232180	Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:49543000-49576200	Weak transcription	Right Atrium	heart
2	chr10:49566000-49573200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr10:49566400-49580000	Weak transcription	Colon Smooth Muscle	Colon
4	chr10:49568200-49573000	Weak transcription	Brain Anterior Caudate	brain
5	chr10:49568600-49582000	Weak transcription	Psoas Muscle	Psoas
6	chr10:49568800-49573200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr10:49568800-49576400	Weak transcription	Ovary	ovary
8	chr10:49569400-49573000	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr10:49569400-49574400	Weak transcription	Rectal Smooth Muscle	rectum
10	chr10:49571000-49572600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr10:49571200-49573600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr10:49571200-49573600	Enhancers	Liver	Liver
13	chr10:49571200-49573600	Enhancers	K562	blood
14	chr10:49571200-49574600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr10:49571600-49573200	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr10:49571800-49572200	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr10:49571800-49572200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr10:49571800-49572200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
19	chr10:49571800-49572200	Enhancers	Brain Angular Gyrus	brain
20	chr10:49571800-49572200	Enhancers	Brain Cingulate Gyrus	brain
21	chr10:49571800-49572200	Enhancers	Brain Substantia Nigra	brain
22	chr10:49571800-49572200	Enhancers	HSMM	muscle
23	chr10:49571800-49572400	Enhancers	iPS-20b Cell Line	embryonic stem cell
24	chr10:49571800-49572400	Enhancers	Duodenum Mucosa	Duodenum
25	chr10:49571800-49572800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr10:49571800-49573000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr10:49571800-49573000	Enhancers	HUES64 Cell Line	embryonic stem cell
28	chr10:49571800-49573000	Enhancers	Fetal Intestine Small	intestine
29	chr10:49571800-49573200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr10:49571800-49573400	Enhancers	ES-I3 Cell Line	embryonic stem cell
31	chr10:49571800-49573400	Enhancers	Primary T cells from cord blood	blood
32	chr10:49571800-49573400	Enhancers	Brain Hippocampus Middle	brain
33	chr10:49571800-49573400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
34	chr10:49571800-49573400	Enhancers	Dnd41	blood
35	chr10:49571800-49573600	Enhancers	HUES48 Cell Line	embryonic stem cell
36	chr10:49571800-49573600	Enhancers	Adipose Nuclei	Adipose
37	chr10:49571800-49573600	Enhancers	NH-A	brain
38	chr10:49571800-49573800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr10:49571800-49573800	Enhancers	Duodenum Smooth Muscle	Duodenum
40	chr10:49571800-49573800	Flanking Active TSS	A549	lung
41	chr10:49571800-49573800	Enhancers	HepG2	liver
42	chr10:49571800-49574000	Enhancers	Fetal Kidney	kidney
43	chr10:49571800-49574000	Enhancers	Osteobl	bone
44	chr10:49571800-49574200	Enhancers	Primary hematopoietic stem cells short term culture	blood
45	chr10:49571800-49574200	Flanking Active TSS	HUVEC	blood vessel
46	chr10:49571800-49574400	Enhancers	NHEK	skin
47	chr10:49571800-49574600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr10:49571800-49574600	Enhancers	Primary hematopoietic stem cells	blood
49	chr10:49571800-49574600	Enhancers	Muscle Satellite Cultured Cells	--
50	chr10:49571800-49574600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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