Variant report

Variant	rs2448106
Chromosome Location	chr10:27010069-27010070
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	chr10:27009604..27012083-chr10:27443909..27445866,2	K562	blood:

Variant related genes	Relation type
ENSG00000120539	Chromatin interaction
ENSG00000136758	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs1197423	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1780196	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2448111	0.85[EUR][1000 genomes]
rs2477300	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2489550	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2489551	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2489552	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3118152	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3118153	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4749184	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9299832	0.91[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs9418589	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][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	nsv894975	chr10:26343356-27014467	Strong transcription Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
2	esv3415799	chr10:26929831-27233591	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv550233	chr10:26968171-27011323	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	esv1818223	chr10:26999121-27022126	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv933544	chr10:27005220-27111998	Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:26987600-27010400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
2	chr10:26987600-27024400	Weak transcription	Fetal Kidney	kidney
3	chr10:26987800-27010800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr10:26987800-27020400	Weak transcription	Primary hematopoietic stem cells	blood
5	chr10:26987800-27031200	Weak transcription	NHDF-Ad	bronchial
6	chr10:26988000-27069600	Weak transcription	Colon Smooth Muscle	Colon
7	chr10:26989400-27031000	Weak transcription	Small Intestine	intestine
8	chr10:26994400-27010600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr10:26994400-27040800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr10:26995400-27023000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr10:26995800-27026600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
12	chr10:26996000-27026600	Strong transcription	Primary monocytes fromperipheralblood	blood
13	chr10:26996200-27026200	Strong transcription	Monocytes-CD14+_RO01746	blood
14	chr10:26996200-27028000	Weak transcription	Psoas Muscle	Psoas
15	chr10:26996600-27012000	Weak transcription	Brain Cingulate Gyrus	brain
16	chr10:26996600-27022400	Weak transcription	Brain Angular Gyrus	brain
17	chr10:26996600-27023600	Weak transcription	Fetal Heart	heart
18	chr10:26996800-27010600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr10:26997200-27012200	Weak transcription	HSMM	muscle
20	chr10:26997200-27022800	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr10:26997200-27024400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr10:26997400-27010600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr10:26997400-27022400	Weak transcription	Brain Substantia Nigra	brain
24	chr10:26997600-27010400	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr10:26997600-27012800	Weak transcription	Brain Hippocampus Middle	brain
26	chr10:26997600-27054400	Weak transcription	Fetal Brain Male	brain
27	chr10:26998000-27010800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
28	chr10:26998000-27011800	Weak transcription	Rectal Smooth Muscle	rectum
29	chr10:26998000-27022400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr10:26998200-27010600	Weak transcription	Esophagus	oesophagus
31	chr10:26998200-27015000	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr10:26998200-27015400	Weak transcription	Brain Anterior Caudate	brain
33	chr10:26998200-27022400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr10:26998600-27012200	Weak transcription	Primary neutrophils fromperipheralblood	blood
35	chr10:26999000-27010600	Weak transcription	Lung	lung
36	chr10:26999800-27022600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
37	chr10:26999800-27037400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr10:27000800-27010400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr10:27000800-27010800	Weak transcription	Ovary	ovary
40	chr10:27001000-27031800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr10:27001200-27041200	Strong transcription	Fetal Thymus	thymus
42	chr10:27001800-27041200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr10:27002200-27015200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
44	chr10:27002200-27017000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr10:27002200-27021600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr10:27002200-27023400	Strong transcription	HUES64 Cell Line	embryonic stem cell
47	chr10:27002400-27017200	Strong transcription	HUES48 Cell Line	embryonic stem cell
48	chr10:27002800-27010600	Weak transcription	Brain Germinal Matrix	brain
49	chr10:27003600-27014600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
50	chr10:27004200-27010600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links