Variant report

Variant	rs41444349
Chromosome Location	chr15:50733978-50733979
allele	G/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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:50651031..50653847-chr15:50731552..50734549,2	K562	blood:
2	chr15:50715577..50719329-chr15:50732574..50736255,6	K562	blood:
3	chr15:50651031..50653997-chr15:50733049..50735643,2	K562	blood:
4	chr15:50648138..50649788-chr15:50731316..50734046,2	K562	blood:
5	chr15:50715358..50717897-chr15:50732023..50734542,3	MCF-7	breast:
6	chr15:50733467..50735069-chr15:50739321..50742183,2	K562	blood:
7	chr15:50728047..50730000-chr15:50733480..50736822,3	MCF-7	breast:
8	chr15:50646271..50649638-chr15:50731579..50734046,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000264109	Chromatin interaction
ENSG00000244879	Chromatin interaction
ENSG00000259715	Chromatin interaction
ENSG00000104064	Chromatin interaction
ENSG00000138592	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10220843	1.00[CEU][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11070790	0.85[GIH][hapmap]
rs11634859	0.85[GIH][hapmap]
rs16963735	1.00[CEU][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs16963739	1.00[ASW][hapmap];1.00[CEU][hapmap];0.83[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs16963744	1.00[CEU][hapmap];0.83[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.86[EUR][1000 genomes]
rs16963774	0.85[GIH][hapmap]
rs17598020	0.86[EUR][1000 genomes]
rs28440118	0.85[GIH][hapmap]
rs3858903	0.85[GIH][hapmap]
rs4380013	0.83[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs511736	1.00[JPT][hapmap]
rs59818085	1.00[ASN][1000 genomes]
rs72738959	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72738960	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72738968	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72738970	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72738977	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72738980	0.86[EUR][1000 genomes]
rs72738983	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs8031444	0.85[GIH][hapmap]
rs8032743	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8034080	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8041096	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8043156	0.85[GIH][hapmap]

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	nsv1045456	chr15:50592472-51019873	Strong transcription Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	121 gene(s)	inside rSNPs	diseases
2	nsv948579	chr15:50645530-51045564	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	119 gene(s)	inside rSNPs	diseases
3	nsv524613	chr15:50656449-50868779	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv904210	chr15:50702058-50786024	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
5	nsv1040717	chr15:50715572-50846521	Strong transcription Genic enhancers Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
6	nsv1053966	chr15:50715572-51133186	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
7	nsv542383	chr15:50715572-51133186	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
8	nsv1043805	chr15:50715572-51208891	Genic enhancers Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
9	nsv542384	chr15:50715572-51208891	Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:50717400-50747000	Weak transcription	Aorta	Aorta
2	chr15:50717600-50764600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr15:50717600-50774800	Weak transcription	Stomach Mucosa	stomach
4	chr15:50717800-50738600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr15:50717800-50758800	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr15:50718000-50734600	Weak transcription	Brain Substantia Nigra	brain
7	chr15:50718000-50755400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr15:50718000-50757000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr15:50718400-50740400	Weak transcription	Fetal Heart	heart
10	chr15:50719000-50734400	Weak transcription	Brain Hippocampus Middle	brain
11	chr15:50722800-50764600	Weak transcription	Esophagus	oesophagus
12	chr15:50723200-50734400	Weak transcription	Psoas Muscle	Psoas
13	chr15:50723200-50743800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr15:50723600-50735000	Weak transcription	Colon Smooth Muscle	Colon
15	chr15:50724600-50755800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
16	chr15:50724800-50764600	Weak transcription	Pancreas	Pancrea
17	chr15:50725400-50734600	Weak transcription	Right Ventricle	heart
18	chr15:50725600-50737000	Weak transcription	NHEK	skin
19	chr15:50728200-50736800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
20	chr15:50728200-50750200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
21	chr15:50729400-50734000	Strong transcription	Primary B cells from cord blood	blood
22	chr15:50729400-50737400	Strong transcription	Primary monocytes fromperipheralblood	blood
23	chr15:50729600-50739200	Strong transcription	Monocytes-CD14+_RO01746	blood
24	chr15:50730000-50735200	Strong transcription	Primary B cells from peripheral blood	blood
25	chr15:50730400-50737600	Strong transcription	Fetal Stomach	stomach
26	chr15:50730400-50744400	Strong transcription	Fetal Intestine Small	intestine
27	chr15:50730600-50737400	Strong transcription	Primary T helper cells fromperipheralblood	blood
28	chr15:50730800-50737200	Strong transcription	HUES48 Cell Line	embryonic stem cell
29	chr15:50730800-50737200	Strong transcription	HUES6 Cell Line	embryonic stem cell
30	chr15:50730800-50754200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
31	chr15:50731000-50734000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr15:50731000-50737400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr15:50731000-50740600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr15:50731000-50748800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr15:50731200-50734000	Strong transcription	Brain Anterior Caudate	brain
36	chr15:50731200-50734000	Strong transcription	Fetal Brain Female	brain
37	chr15:50731200-50734000	Strong transcription	Hela-S3	cervix
38	chr15:50731200-50735200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
39	chr15:50731200-50735400	Strong transcription	NH-A	brain
40	chr15:50731200-50737200	Strong transcription	Primary T helper cells PMA-I stimulated	--
41	chr15:50731200-50737200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
42	chr15:50731200-50737200	Strong transcription	Adipose Nuclei	Adipose
43	chr15:50731200-50737200	Strong transcription	HepG2	liver
44	chr15:50731200-50737400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
45	chr15:50731200-50737400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr15:50731200-50737400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr15:50731200-50737400	Strong transcription	Placenta	Placenta
48	chr15:50731200-50737600	Strong transcription	Primary T cells fromperipheralblood	blood
49	chr15:50731200-50739200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr15:50731200-50742600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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