Variant report

Variant	rs55734254
Chromosome Location	chr2:10186199-10186200
allele	C/T
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:10116612..10118624-chr2:10184791..10186448,2	MCF-7	breast:
2	chr2:10181485..10190041-chr2:10258160..10265104,19	K562	blood:
3	chr2:9999348..10001334-chr2:10185106..10187713,2	K562	blood:
4	chr2:9910558..9913108-chr2:10185637..10189105,3	MCF-7	breast:
5	chr2:10181815..10186886-chr2:10257895..10263826,12	K562	blood:
6	chr2:10186083..10188945-chr2:10191808..10193991,2	K562	blood:
7	chr2:9939649..9941498-chr2:10185709..10187949,2	K562	blood:
8	chr2:10186093..10191010-chr2:10234656..10237838,4	K562	blood:
9	chr2:10182079..10187309-chr2:10193090..10195728,5	MCF-7	breast:
10	chr2:10146007..10148498-chr2:10184659..10186474,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000171848	Chromatin interaction
ENSG00000188525	Chromatin interaction
ENSG00000272524	Chromatin interaction
ENSG00000271787	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12995412	1.00[AFR][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	nsv1011125	chr2:9996740-10293803	Enhancers Strong transcription Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
2	nsv1011689	chr2:10023891-10293803	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
3	nsv997334	chr2:10080327-10189279	Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	nsv828297	chr2:10109299-10236332	Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
5	nsv1007965	chr2:10154960-10276125	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
6	nsv1014790	chr2:10156968-10274855	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
7	nsv999019	chr2:10157762-10273232	Enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
8	nsv873633	chr2:10175442-10266563	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
9	nsv828308	chr2:10175525-10200328	Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:10182800-10186200	Active TSS	Pancreas	Pancrea
2	chr2:10183000-10197000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr2:10183200-10192400	Weak transcription	Primary hematopoietic stem cells	blood
4	chr2:10184600-10187400	Weak transcription	Gastric	stomach
5	chr2:10184600-10196600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr2:10184800-10186200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr2:10184800-10186200	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr2:10184800-10186200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr2:10184800-10186200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr2:10184800-10186200	Weak transcription	Aorta	Aorta
11	chr2:10184800-10187200	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr2:10184800-10187200	Weak transcription	NHLF	lung
13	chr2:10184800-10187800	Weak transcription	Brain Substantia Nigra	brain
14	chr2:10184800-10188000	Weak transcription	Osteobl	bone
15	chr2:10184800-10188600	Weak transcription	Stomach Mucosa	stomach
16	chr2:10184800-10192200	Weak transcription	HSMM	muscle
17	chr2:10184800-10192400	Weak transcription	HSMMtube	muscle
18	chr2:10184800-10193400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr2:10184800-10195800	Weak transcription	Small Intestine	intestine
20	chr2:10184800-10196400	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr2:10184800-10197200	Weak transcription	NH-A	brain
22	chr2:10185000-10186200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr2:10185000-10186200	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr2:10185000-10186200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr2:10185000-10186200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr2:10185000-10186200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr2:10185000-10186200	Weak transcription	Brain Germinal Matrix	brain
28	chr2:10185000-10186400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
29	chr2:10185000-10186400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr2:10185000-10186400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr2:10185000-10186400	Flanking Active TSS	Adipose Nuclei	Adipose
32	chr2:10185000-10186600	Genic enhancers	Fetal Muscle Leg	muscle
33	chr2:10185000-10187200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr2:10185000-10187200	Weak transcription	Fetal Brain Female	brain
35	chr2:10185000-10187600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr2:10185000-10187600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr2:10185000-10187800	Weak transcription	H1 Cell Line	embryonic stem cell
38	chr2:10185000-10187800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr2:10185000-10187800	Weak transcription	NHEK	skin
40	chr2:10185000-10188000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr2:10185000-10188000	Weak transcription	Brain Angular Gyrus	brain
42	chr2:10185000-10188000	Weak transcription	Brain Anterior Caudate	brain
43	chr2:10185000-10188000	Weak transcription	Brain Cingulate Gyrus	brain
44	chr2:10185000-10188000	Weak transcription	HMEC	breast
45	chr2:10185000-10188000	Weak transcription	HUVEC	blood vessel
46	chr2:10185000-10188200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
47	chr2:10185000-10188600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr2:10185000-10188600	Weak transcription	Fetal Heart	heart
49	chr2:10185000-10188800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
50	chr2:10185000-10189200	Weak transcription	Fetal Kidney	kidney

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