Variant report

Variant	rs7170660
Chromosome Location	chr15:75715897-75715898
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:75715485..75717731-chr15:75746716..75749558,2	K562	blood:
2	chr15:75715636..75718966-chr15:75721339..75724020,3	K562	blood:

Variant related genes	Relation type
ENSG00000169375	Chromatin interaction

Extended variants
information (count: 63 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs10152155	0.89[ASN][1000 genomes]
rs10851882	0.84[ASN][1000 genomes]
rs11072544	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1128933	0.89[EUR][1000 genomes]
rs11631052	0.83[ASN][1000 genomes]
rs11632813	0.88[EUR][1000 genomes]
rs11637263	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12324230	0.85[EUR][1000 genomes]
rs12708518	0.83[ASN][1000 genomes]
rs12903362	0.88[EUR][1000 genomes]
rs12909709	0.80[EUR][1000 genomes]
rs12911512	0.87[EUR][1000 genomes]
rs12915221	0.94[EUR][1000 genomes]
rs12916256	0.81[ASN][1000 genomes]
rs28432989	0.86[ASN][1000 genomes]
rs28737338	0.85[ASN][1000 genomes]
rs3809549	0.90[EUR][1000 genomes]
rs4243033	0.87[ASN][1000 genomes]
rs4297648	0.92[ASN][1000 genomes]
rs4451914	0.93[ASN][1000 genomes]
rs4486847	0.92[ASN][1000 genomes]
rs4526985	0.95[EUR][1000 genomes]
rs4564532	0.91[ASN][1000 genomes]
rs4886442	0.95[EUR][1000 genomes]
rs4886446	0.85[ASN][1000 genomes]
rs4886699	0.86[ASN][1000 genomes]
rs4886700	0.89[ASN][1000 genomes]
rs4886702	0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4886703	0.92[ASN][1000 genomes]
rs4886704	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4886705	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4886706	0.86[EUR][1000 genomes]
rs4886708	0.87[ASN][1000 genomes]
rs6495172	0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6495173	0.93[EUR][1000 genomes]
rs6495174	0.99[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6495176	0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6495178	0.86[EUR][1000 genomes]
rs6495181	0.85[EUR][1000 genomes]
rs7163783	0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7164541	0.87[EUR][1000 genomes]
rs7165292	0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7165469	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7166737	0.86[ASN][1000 genomes]
rs7173220	0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7175139	0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7175852	0.82[ASN][1000 genomes]
rs7176989	0.80[ASN][1000 genomes]
rs7182283	0.97[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73436868	0.86[EUR][1000 genomes]
rs8028277	0.86[ASN][1000 genomes]
rs8030014	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs8034317	0.87[ASN][1000 genomes]
rs8043300	0.80[EUR][1000 genomes]
rs9806241	0.88[EUR][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	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	nsv904387	chr15:75706296-75806911	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7170660	MAN2C1	cis	Nerve Tibial	GTEx
rs7170660	MAN2C1	cis	Whole Blood	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:75662400-75717000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
2	chr15:75662400-75731400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr15:75662600-75722800	Strong transcription	Primary T helper cells fromperipheralblood	blood
4	chr15:75662800-75723000	Strong transcription	HUES6 Cell Line	embryonic stem cell
5	chr15:75665800-75723200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr15:75671400-75717800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
7	chr15:75683000-75730200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr15:75684400-75717800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
9	chr15:75703200-75732200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr15:75704800-75728200	Weak transcription	Psoas Muscle	Psoas
11	chr15:75704800-75742200	Weak transcription	Fetal Brain Male	brain
12	chr15:75705200-75738200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr15:75705400-75718400	Weak transcription	Brain Hippocampus Middle	brain
14	chr15:75705400-75720600	Weak transcription	Aorta	Aorta
15	chr15:75705400-75722600	Weak transcription	Gastric	stomach
16	chr15:75705400-75724600	Weak transcription	Fetal Heart	heart
17	chr15:75705400-75741000	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr15:75705400-75742200	Weak transcription	Right Ventricle	heart
19	chr15:75705600-75720400	Weak transcription	Brain Angular Gyrus	brain
20	chr15:75706000-75719000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr15:75706600-75718400	Weak transcription	HUVEC	blood vessel
22	chr15:75706600-75720400	Weak transcription	Fetal Kidney	kidney
23	chr15:75708800-75723200	Strong transcription	HUES48 Cell Line	embryonic stem cell
24	chr15:75708800-75740400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr15:75709000-75723000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr15:75709000-75723000	Strong transcription	Fetal Thymus	thymus
27	chr15:75709000-75723200	Strong transcription	Dnd41	blood
28	chr15:75709400-75723200	Strong transcription	Primary T helper cells PMA-I stimulated	--
29	chr15:75709800-75723000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr15:75710000-75717200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr15:75710000-75722800	Strong transcription	Fetal Muscle Trunk	muscle
32	chr15:75710000-75723000	Strong transcription	HUES64 Cell Line	embryonic stem cell
33	chr15:75710200-75722600	Strong transcription	Primary T cells fromperipheralblood	blood
34	chr15:75710200-75722800	Strong transcription	Fetal Intestine Large	intestine
35	chr15:75710400-75717000	Strong transcription	Fetal Muscle Leg	muscle
36	chr15:75710400-75718400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr15:75710400-75722400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr15:75710600-75717400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
39	chr15:75710600-75722800	Strong transcription	Primary neutrophils fromperipheralblood	blood
40	chr15:75710800-75722800	Strong transcription	Primary monocytes fromperipheralblood	blood
41	chr15:75710800-75722800	Strong transcription	Monocytes-CD14+_RO01746	blood
42	chr15:75711400-75717800	Strong transcription	Liver	Liver
43	chr15:75711600-75716200	Strong transcription	Duodenum Smooth Muscle	Duodenum
44	chr15:75711600-75717200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr15:75711600-75717200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr15:75711800-75719600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr15:75712400-75717400	Strong transcription	GM12878-XiMat	blood
48	chr15:75712400-75718600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
49	chr15:75712400-75720600	Weak transcription	NHDF-Ad	bronchial
50	chr15:75713200-75716400	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links