Variant report

Variant	rs10937762
Chromosome Location	chr4:6918679-6918680
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:6848060..6850922-chr4:6918531..6921192,2	K562	blood:
2	chr4:6918420..6921735-chr4:6987729..6990156,3	MCF-7	breast:
3	chr4:6737062..6739942-chr4:6916966..6919551,2	MCF-7	breast:
4	chr4:6916484..6919201-chr4:7044719..7046815,2	K562	blood:
5	chr4:6694215..6696460-chr4:6916906..6919044,2	MCF-7	breast:
6	chr4:6917607..6919968-chr4:7075757..7078476,3	K562	blood:
7	chr4:6752333..6753341-chr4:6918192..6919069,3	MCF-7	breast:
8	chr4:6918088..6920742-chr4:6973003..6977658,4	MCF-7	breast:
9	chr4:6750069..6752754-chr4:6918064..6920984,3	MCF-7	breast:
10	chr4:6891115..6895158-chr4:6915729..6918708,4	K562	blood:
11	chr4:6918292..6921152-chr4:7071780..7074246,2	MCF-7	breast:
12	chr4:6917201..6921579-chr4:6924492..6930074,6	MCF-7	breast:
13	chr4:6917668..6920987-chr4:6945472..6948090,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000132405	Chromatin interaction
ENSG00000173011	Chromatin interaction
ENSG00000173013	Chromatin interaction
ENSG00000163993	Chromatin interaction

Extended variants
information (count: 49 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10012305	0.91[ASN][1000 genomes]
rs10013211	0.92[CHD][hapmap];0.83[GIH][hapmap];0.95[JPT][hapmap]
rs10015163	0.87[CHD][hapmap];0.83[GIH][hapmap];0.95[JPT][hapmap]
rs10019900	0.84[CHB][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs10804990	0.87[ASW][hapmap];0.85[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.85[ASN][1000 genomes]
rs10937763	0.84[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.85[ASN][1000 genomes]
rs10937766	0.82[ASN][1000 genomes]
rs10937768	0.90[JPT][hapmap]
rs11728984	0.95[JPT][hapmap]
rs11732389	0.83[CHD][hapmap];0.95[JPT][hapmap]
rs12646620	0.82[ASN][1000 genomes]
rs12646621	0.82[ASN][1000 genomes]
rs12650200	0.81[GIH][hapmap]
rs13103361	0.82[ASN][1000 genomes]
rs13435015	0.84[CHB][hapmap];0.90[JPT][hapmap];0.92[ASN][1000 genomes]
rs17742611	0.83[GIH][hapmap];0.90[JPT][hapmap]
rs2301820	0.81[JPT][hapmap]
rs28463777	0.82[ASN][1000 genomes]
rs28523495	0.82[ASN][1000 genomes]
rs28601619	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28703753	0.88[ASN][1000 genomes]
rs34760356	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35296019	0.81[ASN][1000 genomes]
rs3857170	0.81[CHD][hapmap];0.83[GIH][hapmap];0.86[JPT][hapmap]
rs3892145	0.90[CHB][hapmap];0.82[CHD][hapmap];0.81[GIH][hapmap];0.80[JPT][hapmap]
rs41516949	0.83[CHD][hapmap];0.95[JPT][hapmap]
rs4234787	0.87[ASN][1000 genomes]
rs4290891	0.82[ASN][1000 genomes]
rs4315786	0.84[CHB][hapmap];0.87[CHD][hapmap];0.83[GIH][hapmap];0.95[JPT][hapmap];0.80[MEX][hapmap]
rs4346651	0.90[JPT][hapmap]
rs4432749	0.82[CHD][hapmap];0.95[JPT][hapmap];0.80[ASN][1000 genomes]
rs4484301	0.95[JPT][hapmap]
rs4608812	0.89[CHB][hapmap];0.94[JPT][hapmap];0.87[ASN][1000 genomes]
rs4689558	0.93[ASW][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.80[MEX][hapmap];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4689562	0.84[CHB][hapmap];0.95[JPT][hapmap];0.82[ASN][1000 genomes]
rs4689572	0.82[JPT][hapmap]
rs6446552	0.81[CHD][hapmap];0.95[JPT][hapmap]
rs6446553	0.95[JPT][hapmap]
rs6831368	0.90[JPT][hapmap]
rs6848114	0.95[JPT][hapmap]
rs6852468	0.84[ASN][1000 genomes]
rs7657702	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7668673	0.81[JPT][hapmap]
rs9291121	0.84[CHB][hapmap];0.92[CHD][hapmap];0.95[JPT][hapmap];0.82[ASN][1000 genomes]
rs9291122	0.83[ASN][1000 genomes]
rs9291123	0.90[CHB][hapmap];0.89[CHD][hapmap];0.95[JPT][hapmap]
rs9790586	0.90[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv878529	chr4:6883012-6983677	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
2	nsv878530	chr4:6888932-7058473	Strong transcription Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10937762	TBC1D14	cis	Esophagus Mucosa	GTEx

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:6912600-6920000	Weak transcription	HSMM	muscle
2	chr4:6912600-6925400	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr4:6913200-6919000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr4:6913200-6922600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr4:6913200-6925200	Weak transcription	NHLF	lung
6	chr4:6913600-6920000	Enhancers	Liver	Liver
7	chr4:6913600-6920200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr4:6914400-6919600	Weak transcription	Dnd41	blood
9	chr4:6915200-6920400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr4:6915200-6920800	Enhancers	Fetal Intestine Large	intestine
11	chr4:6915800-6919000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr4:6915800-6921200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
13	chr4:6915800-6921400	Enhancers	Primary monocytes fromperipheralblood	blood
14	chr4:6916200-6919600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr4:6916400-6920800	Enhancers	Sigmoid Colon	Sigmoid Colon
16	chr4:6916800-6919000	Enhancers	Placenta Amnion	Placenta Amnion
17	chr4:6916800-6920800	Enhancers	Lung	lung
18	chr4:6916800-6923200	Enhancers	Fetal Thymus	thymus
19	chr4:6917000-6920200	Enhancers	Right Ventricle	heart
20	chr4:6917000-6920400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr4:6917000-6920400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr4:6917000-6920800	Enhancers	Primary B cells from peripheral blood	blood
23	chr4:6917000-6920800	Enhancers	Adipose Nuclei	Adipose
24	chr4:6917000-6920800	Enhancers	Placenta	Placenta
25	chr4:6917000-6920800	Enhancers	Spleen	Spleen
26	chr4:6917000-6924200	Genic enhancers	Fetal Intestine Small	intestine
27	chr4:6917200-6919800	Enhancers	Stomach Mucosa	stomach
28	chr4:6917200-6920000	Enhancers	Brain Angular Gyrus	brain
29	chr4:6917200-6920400	Enhancers	Pancreas	Pancrea
30	chr4:6917200-6920400	Enhancers	Skeletal Muscle Male	skeletal muscle
31	chr4:6917200-6920800	Enhancers	Fetal Muscle Leg	muscle
32	chr4:6917200-6920800	Enhancers	Small Intestine	intestine
33	chr4:6917200-6921000	Enhancers	Gastric	stomach
34	chr4:6917200-6922400	Enhancers	Fetal Stomach	stomach
35	chr4:6917200-6922600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
36	chr4:6917400-6919400	Enhancers	Primary T cells from cord blood	blood
37	chr4:6917400-6920400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr4:6917400-6920800	Enhancers	Cortex derived primary cultured neurospheres	brain
39	chr4:6917800-6919000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr4:6917800-6920000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
41	chr4:6917800-6920200	Enhancers	Brain Inferior Temporal Lobe	brain
42	chr4:6917800-6920400	Enhancers	Breast Myoepithelial Primary Cells	Breast
43	chr4:6917800-6920400	Enhancers	Left Ventricle	heart
44	chr4:6917800-6921400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
45	chr4:6918000-6918800	Genic enhancers	Thymus	Thymus
46	chr4:6918000-6919200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
47	chr4:6918000-6919600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr4:6918000-6920000	Enhancers	HMEC	breast
49	chr4:6918000-6920200	Enhancers	HUVEC	blood vessel
50	chr4:6918000-6920400	Enhancers	ES-I3 Cell Line	embryonic stem cell

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