Variant report

Variant	rs6495172
Chromosome Location	chr15:75690777-75690778
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	chr15:75688286..75690830-chr15:75692829..75695284,2	K562	blood:

Extended variants
information (count: 40 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs11072544	0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1128933	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11632813	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11637263	0.82[EUR][1000 genomes]
rs12324230	0.86[AFR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12903362	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12909709	0.80[AFR][1000 genomes]
rs12911512	0.86[AFR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12915221	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3809549	0.95[AFR][1000 genomes];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4526985	0.98[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4886442	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4886702	0.95[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4886704	0.91[EUR][1000 genomes]
rs4886705	0.85[EUR][1000 genomes]
rs4886706	0.82[EUR][1000 genomes]
rs6495173	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6495174	0.96[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6495176	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6495178	0.84[AFR][1000 genomes];0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6495181	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7163783	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7164541	0.86[AFR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7165292	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7165469	0.95[EUR][1000 genomes]
rs7170660	0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7173220	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7175139	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7182283	0.90[EUR][1000 genomes]
rs73436868	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8030014	0.90[EUR][1000 genomes]
rs9806241	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1035829	chr15:75504534-75692417	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	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
3	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
4	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
5	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
6	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
7	nsv525265	chr15:75670079-75692303	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6495172	MAN2C1	cis	Nerve Tibial	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:75662200-75699200	Strong transcription	Fetal Stomach	stomach
2	chr15:75662200-75715600	Strong transcription	Placenta	Placenta
3	chr15:75662400-75707600	Strong transcription	Primary T helper cells PMA-I stimulated	--
4	chr15:75662400-75717000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr15:75662400-75731400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr15:75662600-75695000	Strong transcription	Rectal Mucosa Donor 29	rectum
7	chr15:75662600-75707400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr15:75662600-75708000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr15:75662600-75708000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr15:75662600-75708600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
11	chr15:75662600-75722800	Strong transcription	Primary T helper cells fromperipheralblood	blood
12	chr15:75662800-75709400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr15:75662800-75723000	Strong transcription	HUES6 Cell Line	embryonic stem cell
14	chr15:75663000-75695200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr15:75663000-75707800	Strong transcription	HUES64 Cell Line	embryonic stem cell
16	chr15:75663000-75708000	Strong transcription	HUES48 Cell Line	embryonic stem cell
17	chr15:75663000-75708200	Strong transcription	Fetal Thymus	thymus
18	chr15:75663000-75708600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr15:75663000-75709400	Strong transcription	Primary monocytes fromperipheralblood	blood
20	chr15:75663000-75710000	Strong transcription	Monocytes-CD14+_RO01746	blood
21	chr15:75663200-75699600	Strong transcription	Cortex derived primary cultured neurospheres	brain
22	chr15:75663200-75706600	Strong transcription	Primary T cells fromperipheralblood	blood
23	chr15:75663200-75707800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
24	chr15:75663200-75707800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr15:75663400-75695400	Strong transcription	Skeletal Muscle Female	skeletal muscle
26	chr15:75663400-75696600	Strong transcription	Stomach Smooth Muscle	stomach
27	chr15:75663400-75707200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr15:75663400-75713000	Strong transcription	Thymus	Thymus
29	chr15:75663600-75705600	Strong transcription	Left Ventricle	heart
30	chr15:75663600-75705600	Strong transcription	Sigmoid Colon	Sigmoid Colon
31	chr15:75663600-75706400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr15:75663600-75707200	Strong transcription	H1 Cell Line	embryonic stem cell
33	chr15:75663600-75707800	Strong transcription	Primary neutrophils fromperipheralblood	blood
34	chr15:75663600-75708000	Strong transcription	Primary T cells from cord blood	blood
35	chr15:75664400-75708000	Strong transcription	Dnd41	blood
36	chr15:75664600-75702200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr15:75665800-75705400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr15:75665800-75723200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr15:75666800-75705400	Strong transcription	Primary T helper naive cells from peripheral blood	blood
40	chr15:75671400-75694200	Strong transcription	H9 Cell Line	embryonic stem cell
41	chr15:75671400-75705800	Strong transcription	Fetal Muscle Leg	muscle
42	chr15:75671400-75706400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr15:75671400-75708000	Strong transcription	Fetal Muscle Trunk	muscle
44	chr15:75671400-75717800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
45	chr15:75671600-75708400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr15:75671800-75695800	Strong transcription	Fetal Brain Female	brain
47	chr15:75674600-75707800	Strong transcription	Duodenum Mucosa	Duodenum
48	chr15:75675200-75695400	Strong transcription	HepG2	liver
49	chr15:75675400-75694400	Strong transcription	Ovary	ovary
50	chr15:75675800-75695400	Strong transcription	Fetal Lung	lung

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