Variant report

Variant	rs11635710
Chromosome Location	chr15:75851041-75851042
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10851882	0.82[EUR][1000 genomes]
rs12324230	0.83[ASN][1000 genomes]
rs12909709	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12916256	0.83[EUR][1000 genomes]
rs4319732	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4430707	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4886449	0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6495181	0.85[ASN][1000 genomes]
rs7176989	0.82[EUR][1000 genomes]
rs8043300	0.82[EUR][1000 genomes];0.85[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	nsv531901	chr15:75600108-76019966	Genic enhancers Flanking Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	166 gene(s)	inside rSNPs	diseases
2	esv3445070	chr15:75623136-76045948	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	165 gene(s)	inside rSNPs	diseases
3	nsv530345	chr15:75628556-75951011	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	158 gene(s)	inside rSNPs	diseases
4	nsv1048028	chr15:75637515-76019967	Strong transcription Genic enhancers Weak transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	161 gene(s)	inside rSNPs	diseases
5	nsv542436	chr15:75637515-76019967	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	161 gene(s)	inside rSNPs	diseases
6	nsv482802	chr15:75686519-75899896	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
7	esv1800424	chr15:75692303-75991451	Flanking Active TSS Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	124 gene(s)	inside rSNPs	diseases
8	nsv531902	chr15:75724505-75919237	Flanking Active TSS Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Enhancers 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
9	nsv819520	chr15:75819453-75865881	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11635710	MAN2C1	cis	Whole Blood	GTEx
rs11635710	MAN2C1	cis	Nerve Tibial	GTEx

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:75819600-75865000	Weak transcription	Primary B cells from cord blood	blood
2	chr15:75819600-75866200	Weak transcription	Primary T helper cells fromperipheralblood	blood
3	chr15:75819600-75869200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr15:75819800-75860800	Weak transcription	Primary T cells fromperipheralblood	blood
5	chr15:75819800-75869600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
6	chr15:75823800-75858000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr15:75823800-75869600	Weak transcription	Fetal Thymus	thymus
8	chr15:75824600-75869800	Weak transcription	Fetal Muscle Trunk	muscle
9	chr15:75825400-75857800	Weak transcription	NH-A	brain
10	chr15:75825600-75859400	Weak transcription	Fetal Stomach	stomach
11	chr15:75826000-75857800	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr15:75826400-75853800	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr15:75826400-75865600	Weak transcription	HUVEC	blood vessel
14	chr15:75826600-75860400	Weak transcription	Hela-S3	cervix
15	chr15:75826600-75865200	Weak transcription	NHEK	skin
16	chr15:75829200-75862600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr15:75831000-75864800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr15:75833200-75865000	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr15:75833200-75865400	Weak transcription	HMEC	breast
20	chr15:75835200-75854400	Weak transcription	HSMM	muscle
21	chr15:75835200-75865400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr15:75835200-75866200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr15:75835800-75865000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr15:75836800-75862200	Weak transcription	Primary T cells from cord blood	blood
25	chr15:75837000-75852400	Weak transcription	HepG2	liver
26	chr15:75837000-75869600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr15:75837400-75859400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr15:75837400-75865400	Weak transcription	Colonic Mucosa	Colon
29	chr15:75837400-75869800	Weak transcription	Thymus	Thymus
30	chr15:75837600-75851800	Weak transcription	Lung	lung
31	chr15:75837600-75855600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr15:75837600-75857600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
33	chr15:75837600-75857800	Weak transcription	Dnd41	blood
34	chr15:75837600-75864400	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr15:75837600-75869400	Weak transcription	Brain Cingulate Gyrus	brain
36	chr15:75837600-75869400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr15:75839400-75865400	Weak transcription	Colon Smooth Muscle	Colon
38	chr15:75839600-75866200	Weak transcription	Left Ventricle	heart
39	chr15:75839600-75869800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
40	chr15:75842200-75851200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr15:75843800-75858200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr15:75844000-75854400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
43	chr15:75844000-75857600	Weak transcription	A549	lung
44	chr15:75844000-75864600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr15:75844200-75852600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr15:75844200-75856600	Weak transcription	Placenta	Placenta
47	chr15:75844200-75857800	Weak transcription	Monocytes-CD14+_RO01746	blood
48	chr15:75844200-75862600	Weak transcription	Primary monocytes fromperipheralblood	blood
49	chr15:75845000-75865200	Weak transcription	GM12878-XiMat	blood
50	chr15:75845200-75851400	Weak transcription	Fetal Intestine Small	intestine

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