Variant report

Variant	rs4444493
Chromosome Location	chr2:10193178-10193179
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:10182329..10184391-chr2:10191437..10194185,4	K562	blood:
2	chr2:10186083..10188945-chr2:10191808..10193991,2	K562	blood:
3	chr2:10190985..10193979-chr2:10194014..10196704,2	K562	blood:
4	chr2:10182079..10187309-chr2:10193090..10195728,5	MCF-7	breast:
5	chr2:9935006..9936856-chr2:10191878..10194283,2	K562	blood:
6	chr2:10191630..10196148-chr2:10586386..10589794,5	K562	blood:
7	chr2:10192731..10194535-chr2:10587584..10589544,2	K562	blood:

Variant related genes	Relation type
ENSG00000115758	Chromatin interaction
ENSG00000172059	Chromatin interaction
ENSG00000206633	Chromatin interaction
ENSG00000257135	Chromatin interaction
ENSG00000271787	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs1132838	1.00[LWK][hapmap]
rs11886933	1.00[ASN][1000 genomes]
rs12468621	1.00[ASN][1000 genomes]
rs1367386	1.00[LWK][hapmap]
rs2116017	1.00[ASN][1000 genomes]
rs35927125	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4669510	1.00[ASN][1000 genomes]
rs4669512	1.00[ASN][1000 genomes]
rs4669559	1.00[ASN][1000 genomes]
rs55797250	1.00[ASN][1000 genomes]
rs56013048	1.00[ASN][1000 genomes]
rs57031421	1.00[ASN][1000 genomes]
rs6716517	1.00[ASN][1000 genomes]
rs6717307	1.00[ASN][1000 genomes]
rs6744258	1.00[ASN][1000 genomes]
rs72542775	1.00[ASN][1000 genomes]
rs72542787	1.00[ASN][1000 genomes]
rs72784502	1.00[ASN][1000 genomes]
rs72786603	1.00[ASN][1000 genomes]
rs7586930	1.00[ASN][1000 genomes]
rs7591484	1.00[ASN][1000 genomes]
rs7601478	1.00[ASN][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	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
4	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
5	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
6	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
7	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
8	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
9	nsv1010706	chr2:10189219-10266995	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:10183000-10197000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr2:10184600-10196600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr2:10184800-10193400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr2:10184800-10195800	Weak transcription	Small Intestine	intestine
5	chr2:10184800-10196400	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr2:10184800-10197200	Weak transcription	NH-A	brain
7	chr2:10185000-10195400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr2:10185000-10200400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr2:10185200-10195400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr2:10185800-10194800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
11	chr2:10186000-10196200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr2:10186200-10195800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr2:10186200-10195800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr2:10186200-10196200	Strong transcription	Cortex derived primary cultured neurospheres	brain
15	chr2:10186200-10196200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr2:10186400-10195800	Strong transcription	Primary monocytes fromperipheralblood	blood
17	chr2:10186400-10196000	Strong transcription	Monocytes-CD14+_RO01746	blood
18	chr2:10187600-10194400	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr2:10188800-10193200	Weak transcription	Brain Hippocampus Middle	brain
20	chr2:10188800-10195800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr2:10188800-10196200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr2:10188800-10196400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr2:10188800-10196600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr2:10188800-10197400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
25	chr2:10188800-10197400	Weak transcription	Colonic Mucosa	Colon
26	chr2:10189000-10195200	Weak transcription	Right Atrium	heart
27	chr2:10189000-10195600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr2:10189000-10196000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr2:10189000-10196600	Weak transcription	NHLF	lung
30	chr2:10189000-10197200	Weak transcription	Stomach Mucosa	stomach
31	chr2:10189000-10200000	Weak transcription	Psoas Muscle	Psoas
32	chr2:10189400-10195400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr2:10189600-10193600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
34	chr2:10189600-10195200	Strong transcription	Fetal Muscle Trunk	muscle
35	chr2:10189600-10195800	Weak transcription	Fetal Brain Male	brain
36	chr2:10189600-10196200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr2:10189800-10193200	Weak transcription	HUES48 Cell Line	embryonic stem cell
38	chr2:10189800-10193200	Weak transcription	Brain Anterior Caudate	brain
39	chr2:10189800-10195000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
40	chr2:10189800-10195200	Strong transcription	Lung	lung
41	chr2:10189800-10196400	Weak transcription	Fetal Heart	heart
42	chr2:10190200-10193200	Weak transcription	Fetal Kidney	kidney
43	chr2:10190200-10193200	Weak transcription	Rectal Mucosa Donor 31	rectum
44	chr2:10190200-10193200	Weak transcription	Right Ventricle	heart
45	chr2:10190200-10193400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
46	chr2:10190200-10193800	Weak transcription	NHDF-Ad	bronchial
47	chr2:10190200-10195800	Weak transcription	HepG2	liver
48	chr2:10190200-10196600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr2:10190200-10196800	Weak transcription	NHEK	skin
50	chr2:10190400-10193200	Strong transcription	Liver	Liver

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