Variant report

Variant	rs4779794
Chromosome Location	chr15:31197564-31197565
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	chr15:31195772..31198184-chr15:31282316..31283835,2	K562	blood:
2	chr15:31194962..31197804-chr15:31219595..31222456,2	K562	blood:

Variant related genes	Relation type
ENSG00000198690	Chromatin interaction
ENSG00000166912	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11070718	0.87[MEX][hapmap]
rs1133642	0.80[CEU][hapmap];0.91[GIH][hapmap];1.00[TSI][hapmap]
rs11631543	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11638295	0.91[MEX][hapmap];0.87[TSI][hapmap]
rs12441318	0.88[CEU][hapmap];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1404468	0.80[CEU][hapmap]
rs1404469	0.80[CEU][hapmap];0.91[GIH][hapmap];0.92[MEX][hapmap];1.00[TSI][hapmap]
rs1524876	0.80[CEU][hapmap];0.91[GIH][hapmap];0.96[MEX][hapmap];1.00[TSI][hapmap]
rs1880499	0.80[CEU][hapmap]
rs2113946	0.87[MEX][hapmap]
rs2293314	0.84[CEU][hapmap];0.98[GIH][hapmap];0.96[MEX][hapmap];0.98[TSI][hapmap];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2873	0.81[CEU][hapmap];0.87[GIH][hapmap];0.96[MEX][hapmap];1.00[TSI][hapmap];0.86[EUR][1000 genomes]
rs2949566	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2949567	0.86[EUR][1000 genomes]
rs2949568	0.94[CHB][hapmap];0.84[CHD][hapmap];0.86[JPT][hapmap]
rs2949569	0.81[CEU][hapmap];0.89[GIH][hapmap];0.87[MEX][hapmap];1.00[TSI][hapmap];0.82[EUR][1000 genomes]
rs2949570	0.81[CEU][hapmap]
rs2949573	0.80[CEU][hapmap];0.91[GIH][hapmap];0.96[MEX][hapmap];1.00[TSI][hapmap]
rs2949574	0.88[CHB][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.88[MKK][hapmap];0.91[TSI][hapmap]
rs2949577	0.80[CEU][hapmap]
rs2955776	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2955783	0.80[CEU][hapmap]
rs2955790	0.81[CEU][hapmap];0.91[GIH][hapmap];0.96[MEX][hapmap];0.98[TSI][hapmap]
rs2955794	0.85[EUR][1000 genomes]
rs2955795	0.87[EUR][1000 genomes]
rs2955796	0.80[CEU][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2955798	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2959039	0.84[CEU][hapmap];0.98[GIH][hapmap];0.88[MEX][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2959054	1.00[ASW][hapmap];0.88[CHB][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];0.91[TSI][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes]
rs3794594	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7170710	0.80[CEU][hapmap]
rs8040989	0.91[MEX][hapmap];0.87[TSI][hapmap]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv427955	chr15:30467980-31273174	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
2	nsv531138	chr15:30653877-31609679	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
3	nsv916936	chr15:30921917-31337510	Active TSS Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
4	nsv525795	chr15:30936285-31324531	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
5	nsv533434	chr15:30938215-31244225	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
6	nsv903831	chr15:30986051-31723279	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
7	nsv1046874	chr15:31008133-31294654	Enhancers Strong transcription Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
8	nsv1054147	chr15:31014507-31972706	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
9	nsv542306	chr15:31014507-31972706	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
10	nsv832951	chr15:31131239-31304469	Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
11	nsv1039037	chr15:31140415-31277268	Strong transcription ZNF genes & repeats Genic enhancers Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
12	nsv542309	chr15:31140415-31277268	Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
13	nsv1036018	chr15:31140415-31544888	Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
14	nsv521842	chr15:31140700-31272670	Weak transcription Transcr. at gene 5' and 3' Genic enhancers Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
15	nsv903834	chr15:31179534-31293774	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
16	esv33507	chr15:31183324-31471023	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	35 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:31196600-31197800	Enhancers	Primary T killer memory cells from peripheral blood	blood
2	chr15:31196600-31197800	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr15:31196600-31198200	Weak transcription	Esophagus	oesophagus
4	chr15:31196600-31198600	Weak transcription	Spleen	Spleen
5	chr15:31196600-31200800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr15:31196600-31201400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr15:31196600-31201400	Weak transcription	Small Intestine	intestine
8	chr15:31196600-31201600	Weak transcription	Gastric	stomach
9	chr15:31196600-31210800	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr15:31196800-31197600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
11	chr15:31196800-31197800	Weak transcription	Left Ventricle	heart
12	chr15:31196800-31197800	Weak transcription	Pancreas	Pancrea
13	chr15:31196800-31198200	Enhancers	Primary T helper cells fromperipheralblood	blood
14	chr15:31196800-31198200	Enhancers	Rectal Mucosa Donor 31	rectum
15	chr15:31196800-31199200	Enhancers	Brain Hippocampus Middle	brain
16	chr15:31196800-31199400	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr15:31196800-31199800	Weak transcription	Fetal Thymus	thymus
18	chr15:31196800-31200200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr15:31196800-31200200	Weak transcription	HSMM	muscle
20	chr15:31196800-31200400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr15:31196800-31200400	Weak transcription	Placenta	Placenta
22	chr15:31196800-31201000	Weak transcription	Ovary	ovary
23	chr15:31196800-31201200	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr15:31196800-31201200	Weak transcription	Primary T cells fromperipheralblood	blood
25	chr15:31196800-31201200	Weak transcription	Monocytes-CD14+_RO01746	blood
26	chr15:31196800-31201400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr15:31196800-31201400	Weak transcription	Lung	lung
28	chr15:31196800-31201600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr15:31196800-31201600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr15:31196800-31201600	Weak transcription	Aorta	Aorta
31	chr15:31196800-31201600	Weak transcription	Fetal Intestine Small	intestine
32	chr15:31196800-31201600	Weak transcription	Right Ventricle	heart
33	chr15:31196800-31202800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr15:31196800-31210400	Weak transcription	HSMMtube	muscle
35	chr15:31196800-31213000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr15:31196800-31215000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
37	chr15:31197000-31197600	Enhancers	Colon Smooth Muscle	Colon
38	chr15:31197000-31197800	Weak transcription	Brain Germinal Matrix	brain
39	chr15:31197000-31197800	Weak transcription	Fetal Kidney	kidney
40	chr15:31197000-31198000	Enhancers	Brain Inferior Temporal Lobe	brain
41	chr15:31197000-31198200	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr15:31197000-31198400	Enhancers	Fetal Brain Male	brain
43	chr15:31197000-31198800	Enhancers	Psoas Muscle	Psoas
44	chr15:31197000-31199200	Enhancers	Fetal Heart	heart
45	chr15:31197000-31199200	Enhancers	Skeletal Muscle Female	skeletal muscle
46	chr15:31197000-31199400	Enhancers	Liver	Liver
47	chr15:31197000-31199400	Enhancers	HepG2	liver
48	chr15:31197000-31199800	Weak transcription	HUES64 Cell Line	embryonic stem cell
49	chr15:31197000-31200200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr15:31197000-31200400	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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