Variant report

Variant	rs2306814
Chromosome Location	chr10:45960000-45960001
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr10:45959920-45960070	NHDF-neo	bronchial:	n/a	n/a
2	CTCF	chr10:45959979-45961048	SK-N-SH	brain:	n/a	chr10:45960599-45960615 chr10:45960600-45960621 chr10:45960598-45960616
3	POLR2A	chr10:45959120-45960917	GM12891	blood:	n/a	n/a

Variant related genes	Relation type
MARCH8	TF binding region

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs12765209	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12783037	0.85[CHB][hapmap]
rs17157784	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs17157883	1.00[ASN][1000 genomes]
rs2082109	0.86[ASN][1000 genomes]
rs2082110	0.86[ASN][1000 genomes]
rs2129644	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3740110	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3780902	0.81[ASN][1000 genomes]
rs3780904	0.90[ASN][1000 genomes]
rs3802547	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs3824614	0.90[ASN][1000 genomes]
rs41426046	1.00[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs41519248	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs59317220	0.90[ASN][1000 genomes]
rs73283191	0.81[ASN][1000 genomes]
rs73283196	0.81[ASN][1000 genomes]
rs74130824	1.00[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	nsv430166	chr10:45668894-46148794	Bivalent Enhancer Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv993428	chr10:45742877-46224333	Enhancers Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv895108	chr10:45878908-46224333	Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv895109	chr10:45882741-46210665	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
5	nsv1043536	chr10:45915941-46076235	Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:45938600-45967200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr10:45938600-45967200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr10:45943200-45965400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr10:45948000-45963600	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr10:45949200-45965600	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr10:45950000-45967200	Weak transcription	Psoas Muscle	Psoas
7	chr10:45950200-45960600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr10:45950400-45966200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr10:45950800-45965600	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr10:45951000-45960600	Weak transcription	Fetal Brain Male	brain
11	chr10:45951000-45965600	Weak transcription	Brain Germinal Matrix	brain
12	chr10:45951200-45960600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr10:45951400-45962200	Weak transcription	HMEC	breast
14	chr10:45951600-45965600	Weak transcription	Small Intestine	intestine
15	chr10:45953000-45965600	Weak transcription	Colon Smooth Muscle	Colon
16	chr10:45953600-45969200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr10:45954600-45965600	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr10:45954800-45960200	Weak transcription	Brain Hippocampus Middle	brain
19	chr10:45955000-45965600	Weak transcription	NHLF	lung
20	chr10:45955200-45960200	Weak transcription	Gastric	stomach
21	chr10:45955600-45960600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr10:45955600-45962400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr10:45955600-45965400	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr10:45956000-45960600	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr10:45956200-45960600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
26	chr10:45956200-45965400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr10:45956400-45966800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr10:45956600-45960600	Weak transcription	Brain Angular Gyrus	brain
29	chr10:45956600-45965600	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr10:45956800-45960200	Weak transcription	K562	blood
31	chr10:45956800-45960600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr10:45956800-45960600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr10:45956800-45963000	Weak transcription	Fetal Brain Female	brain
34	chr10:45956800-45965400	Weak transcription	Thymus	Thymus
35	chr10:45956800-45965600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr10:45956800-45965600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr10:45956800-45966000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr10:45957000-45960400	Weak transcription	Brain Cingulate Gyrus	brain
39	chr10:45957000-45960600	Weak transcription	Brain Anterior Caudate	brain
40	chr10:45957000-45960600	Weak transcription	Fetal Thymus	thymus
41	chr10:45957000-45960600	Weak transcription	HepG2	liver
42	chr10:45957000-45961400	Weak transcription	Dnd41	blood
43	chr10:45957000-45962000	Weak transcription	Esophagus	oesophagus
44	chr10:45957000-45965400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
45	chr10:45957000-45965600	Weak transcription	Fetal Lung	lung
46	chr10:45957400-45960800	Flanking Active TSS	Primary B cells from cord blood	blood
47	chr10:45957400-45961200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
48	chr10:45957400-45966200	Weak transcription	Fetal Kidney	kidney
49	chr10:45958000-45960200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
50	chr10:45958000-45963000	Enhancers	Primary B cells from peripheral blood	blood

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