Variant report

Variant	rs1795720
Chromosome Location	chr4:89929254-89929255
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10015415	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1708667	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1795736	0.89[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs1795739	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2013701	0.80[ASN][1000 genomes]
rs2178586	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2904259	0.80[ASN][1000 genomes]
rs6823536	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6849143	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6852288	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6852928	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7671167	0.80[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	nsv470051	chr4:89644931-90643144	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv1009354	chr4:89725914-89985155	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription 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	7 gene(s)	inside rSNPs	diseases
3	nsv998651	chr4:89800245-89933445	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
4	nsv537175	chr4:89800245-89933445	Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
5	nsv1007025	chr4:89837734-90098046	Enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
6	nsv537176	chr4:89837734-90098046	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
7	nsv461577	chr4:89904124-89986326	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	6 gene(s)	inside rSNPs	diseases
8	nsv594807	chr4:89904124-89986326	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:89896800-89934800	Weak transcription	HUES48 Cell Line	embryonic stem cell
2	chr4:89903000-89957200	Weak transcription	HSMM	muscle
3	chr4:89903400-89936000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr4:89909800-89931200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr4:89911400-89930400	Weak transcription	Primary hematopoietic stem cells	blood
6	chr4:89912200-89935800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr4:89912200-89943800	Weak transcription	Psoas Muscle	Psoas
8	chr4:89913400-89930800	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr4:89913400-89944000	Weak transcription	Gastric	stomach
10	chr4:89920400-89937000	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr4:89921000-89930000	Weak transcription	Liver	Liver
12	chr4:89921000-89950600	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr4:89922400-89936000	Weak transcription	Adipose Nuclei	Adipose
14	chr4:89922600-89932600	Weak transcription	NHDF-Ad	bronchial
15	chr4:89922600-89935000	Weak transcription	Placenta	Placenta
16	chr4:89922600-89936800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr4:89922600-89949800	Weak transcription	HMEC	breast
18	chr4:89922800-89931800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr4:89922800-89935800	Weak transcription	HUVEC	blood vessel
20	chr4:89922800-89945600	Weak transcription	A549	lung
21	chr4:89923000-89932200	Weak transcription	Osteobl	bone
22	chr4:89923000-89935000	Weak transcription	Fetal Kidney	kidney
23	chr4:89923400-89939400	Weak transcription	Primary T cells from cord blood	blood
24	chr4:89923600-89930800	Weak transcription	Small Intestine	intestine
25	chr4:89923600-89945600	Weak transcription	Rectal Smooth Muscle	rectum
26	chr4:89923800-89930400	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr4:89923800-89936000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr4:89923800-89936000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr4:89923800-89937000	Weak transcription	Fetal Heart	heart
30	chr4:89923800-89943800	Weak transcription	Right Atrium	heart
31	chr4:89923800-89944400	Weak transcription	Colon Smooth Muscle	Colon
32	chr4:89924400-89934000	Weak transcription	Fetal Brain Female	brain
33	chr4:89925000-89931600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
34	chr4:89925400-89937000	Weak transcription	Duodenum Smooth Muscle	Duodenum
35	chr4:89925600-89939400	Weak transcription	Aorta	Aorta
36	chr4:89926000-89936000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr4:89926200-89936400	Weak transcription	H9 Cell Line	embryonic stem cell
38	chr4:89926400-89933600	Strong transcription	HUES64 Cell Line	embryonic stem cell
39	chr4:89926400-89949600	Weak transcription	Left Ventricle	heart
40	chr4:89926600-89941000	Weak transcription	Esophagus	oesophagus
41	chr4:89926800-89935200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr4:89926800-89951400	Weak transcription	Right Ventricle	heart
43	chr4:89927400-89932800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
44	chr4:89927600-89931400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr4:89928000-89929800	Strong transcription	Fetal Stomach	stomach
46	chr4:89928000-89931800	Weak transcription	Pancreas	Pancrea
47	chr4:89928000-89935000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr4:89928200-89929400	Weak transcription	K562	blood
49	chr4:89928200-89929800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr4:89928200-89929800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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