Variant report

Variant	rs10174
Chromosome Location	chr1:185267114-185267115
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	chr1:185266354..185269521-chr1:185284767..185287628,4	MCF-7	breast:
2	chr1:185260837..185263424-chr1:185264314..185267191,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000116679	Chromatin interaction
ENSG00000273004	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10157232	0.88[EUR][1000 genomes]
rs10752947	0.95[CHB][hapmap];0.92[CHD][hapmap];0.98[GIH][hapmap];0.89[MEX][hapmap];0.86[TSI][hapmap];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10798002	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10798003	0.92[CEU][hapmap];0.91[TSI][hapmap];0.89[EUR][1000 genomes]
rs10798004	0.82[CEU][hapmap];0.86[TSI][hapmap];0.89[EUR][1000 genomes]
rs10798006	0.89[EUR][1000 genomes]
rs10911693	0.83[CHB][hapmap];0.94[JPT][hapmap]
rs10911700	0.92[CEU][hapmap];0.91[TSI][hapmap];0.89[EUR][1000 genomes]
rs10911702	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10911704	0.96[CEU][hapmap];0.84[CHB][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.93[TSI][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10911707	0.86[EUR][1000 genomes]
rs10911708	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12026391	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];0.98[TSI][hapmap];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12041704	0.92[CEU][hapmap];0.89[CHB][hapmap];0.92[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];0.91[TSI][hapmap];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12044943	0.88[EUR][1000 genomes]
rs12135769	0.89[CEU][hapmap];0.84[TSI][hapmap]
rs12136040	0.89[EUR][1000 genomes]
rs1336752	0.84[CHB][hapmap];0.86[CHD][hapmap];0.94[JPT][hapmap]
rs1336753	0.84[EUR][1000 genomes]
rs17641003	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1889976	0.92[CEU][hapmap];0.91[TSI][hapmap];0.90[EUR][1000 genomes]
rs2095610	0.83[EUR][1000 genomes]
rs2152707	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2224027	0.88[CEU][hapmap];0.88[EUR][1000 genomes]
rs2281416	0.83[CHB][hapmap];0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2378909	0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2378910	0.92[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];0.82[LWK][hapmap];0.93[TSI][hapmap];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34611062	0.87[EUR][1000 genomes]
rs57977436	0.88[EUR][1000 genomes]
rs6656019	0.89[EUR][1000 genomes]
rs66845254	0.89[EUR][1000 genomes]
rs6685627	0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6687774	0.83[CHB][hapmap];0.82[TSI][hapmap];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7123	1.00[ASW][hapmap];0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.98[TSI][hapmap];0.96[YRI][hapmap];0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs726567	0.96[CEU][hapmap];0.89[CHB][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.93[TSI][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7512337	0.88[EUR][1000 genomes]
rs7531487	0.83[EUR][1000 genomes]
rs7537341	0.82[CEU][hapmap];0.85[TSI][hapmap]
rs7539575	0.92[CEU][hapmap];0.89[EUR][1000 genomes]
rs7542721	0.89[EUR][1000 genomes]
rs7545878	0.88[CEU][hapmap];0.88[GIH][hapmap];0.86[TSI][hapmap];0.89[EUR][1000 genomes]
rs7550586	0.84[CHB][hapmap];0.86[CHD][hapmap];0.94[JPT][hapmap]
rs883753	0.88[ASW][hapmap];0.92[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];0.84[LWK][hapmap];0.93[TSI][hapmap];0.81[AFR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs951428	0.84[CHB][hapmap];0.86[CHD][hapmap];0.94[JPT][hapmap]
rs997283	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001323	chr1:184525419-185315876	Weak transcription Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer 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	69 gene(s)	inside rSNPs	diseases
2	nsv535222	chr1:184525419-185315876	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
3	nsv548398	chr1:185136458-186003094	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10174	IVNS1ABP	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:185218800-185269400	Weak transcription	Pancreas	Pancrea
2	chr1:185240200-185267200	Weak transcription	Gastric	stomach
3	chr1:185240400-185268800	Weak transcription	Aorta	Aorta
4	chr1:185240800-185273000	Weak transcription	Spleen	Spleen
5	chr1:185245400-185268800	Weak transcription	Esophagus	oesophagus
6	chr1:185245800-185268400	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr1:185245800-185273000	Weak transcription	Right Ventricle	heart
8	chr1:185247600-185267800	Weak transcription	Fetal Stomach	stomach
9	chr1:185254400-185267800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr1:185255000-185268200	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr1:185260800-185275200	Weak transcription	Small Intestine	intestine
12	chr1:185261200-185267800	Weak transcription	Fetal Intestine Small	intestine
13	chr1:185261400-185278800	Strong transcription	HUVEC	blood vessel
14	chr1:185261800-185278800	Strong transcription	Fetal Brain Female	brain
15	chr1:185262000-185279000	Strong transcription	HSMMtube	muscle
16	chr1:185262000-185279400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr1:185262000-185279800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr1:185262000-185280400	Strong transcription	Placenta	Placenta
19	chr1:185262000-185280800	Strong transcription	HMEC	breast
20	chr1:185262000-185281000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr1:185262000-185281600	Strong transcription	Fetal Thymus	thymus
22	chr1:185262000-185281800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr1:185262000-185281800	Strong transcription	HSMM	muscle
24	chr1:185262200-185277600	Strong transcription	Left Ventricle	heart
25	chr1:185262200-185278400	Strong transcription	Primary T cells from cord blood	blood
26	chr1:185262200-185278800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
27	chr1:185262200-185280400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr1:185262200-185280600	Strong transcription	NH-A	brain
29	chr1:185262200-185281000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr1:185262400-185278200	Strong transcription	Primary neutrophils fromperipheralblood	blood
31	chr1:185262400-185278600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr1:185262400-185278600	Weak transcription	Stomach Mucosa	stomach
33	chr1:185262400-185278800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr1:185262400-185280400	Strong transcription	Rectal Mucosa Donor 29	rectum
35	chr1:185262600-185267200	Weak transcription	Lung	lung
36	chr1:185262600-185280400	Strong transcription	Primary hematopoietic stem cells	blood
37	chr1:185262600-185280400	Strong transcription	Osteobl	bone
38	chr1:185262800-185267400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr1:185262800-185272000	Strong transcription	Cortex derived primary cultured neurospheres	brain
40	chr1:185262800-185280600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
41	chr1:185263000-185271600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr1:185263000-185278000	Strong transcription	Brain Hippocampus Middle	brain
43	chr1:185263000-185278800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr1:185263000-185278800	Strong transcription	Monocytes-CD14+_RO01746	blood
45	chr1:185263000-185280000	Strong transcription	Brain Germinal Matrix	brain
46	chr1:185263000-185280400	Strong transcription	Rectal Mucosa Donor 31	rectum
47	chr1:185263000-185281400	Strong transcription	HUES64 Cell Line	embryonic stem cell
48	chr1:185263200-185274800	Strong transcription	Liver	Liver
49	chr1:185263200-185279200	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
50	chr1:185263200-185279800	Strong transcription	Primary B cells from cord blood	blood

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