Variant report

Variant	rs4916428
Chromosome Location	chr3:196094417-196094418
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:196087051..196089707-chr3:196092775..196094458,2	K562	blood:
2	chr3:196090944..196093286-chr3:196094275..196096504,2	K562	blood:
3	chr3:196078799..196081788-chr3:196092025..196095226,4	K562	blood:
4	chr3:196075208..196077147-chr3:196092835..196095668,2	MCF-7	breast:

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs11712853	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12488531	0.81[AFR][1000 genomes]
rs13089205	0.83[AFR][1000 genomes]
rs28594421	0.84[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs34702811	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4290832	0.82[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs4371545	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4513483	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6774540	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6805994	0.90[EUR][1000 genomes]
rs7373049	0.81[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs7373385	0.81[EUR][1000 genomes]
rs7374841	0.81[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs7617626	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9821735	0.82[EUR][1000 genomes]
rs9848247	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs9860931	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9874783	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv997797	chr3:195658360-196212958	Weak transcription Flanking Active TSS Genic enhancers Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
2	nsv1009811	chr3:195851796-196138071	Weak transcription Strong transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	53 gene(s)	inside rSNPs	diseases
3	nsv1003550	chr3:195885340-196159824	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
4	nsv536893	chr3:195885340-196159824	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
5	nsv1003194	chr3:195960270-196342423	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
6	nsv536894	chr3:195960270-196342423	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
7	nsv878182	chr3:195974181-196228360	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
8	nsv1003764	chr3:196028141-196190687	Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
9	nsv536895	chr3:196028141-196190687	Genic enhancers Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
10	esv1844755	chr3:196057616-196190350	Flanking Active TSS Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh 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	22 gene(s)	inside rSNPs	diseases
11	nsv469831	chr3:196071603-196235225	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
12	nsv482542	chr3:196071603-196235225	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
13	nsv878183	chr3:196072442-196181228	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:196070600-196106400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr3:196071800-196100800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr3:196072400-196099600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr3:196073600-196135800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr3:196074200-196099000	Strong transcription	Primary neutrophils fromperipheralblood	blood
6	chr3:196074800-196099000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr3:196077000-196100400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr3:196077800-196095200	Strong transcription	Fetal Muscle Trunk	muscle
9	chr3:196078800-196095000	Strong transcription	Fetal Muscle Leg	muscle
10	chr3:196079800-196096800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
11	chr3:196079800-196099000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr3:196080600-196095000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr3:196080600-196100800	Strong transcription	Dnd41	blood
14	chr3:196081000-196094600	Strong transcription	HepG2	liver
15	chr3:196081200-196099200	Strong transcription	HUES6 Cell Line	embryonic stem cell
16	chr3:196082000-196099200	Strong transcription	Cortex derived primary cultured neurospheres	brain
17	chr3:196083600-196143800	Weak transcription	Psoas Muscle	Psoas
18	chr3:196083800-196106400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr3:196084200-196100000	Strong transcription	Fetal Intestine Small	intestine
20	chr3:196084600-196131600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr3:196085200-196102200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr3:196086200-196099200	Strong transcription	Primary T cells fromperipheralblood	blood
23	chr3:196086400-196116000	Weak transcription	A549	lung
24	chr3:196087400-196095000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
25	chr3:196087400-196099000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
26	chr3:196088200-196095000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr3:196088400-196116600	Weak transcription	Pancreatic Islets	Pancreatic Islet
28	chr3:196089000-196106600	Weak transcription	Right Ventricle	heart
29	chr3:196089400-196107000	Weak transcription	Aorta	Aorta
30	chr3:196089400-196116400	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr3:196089600-196097200	Weak transcription	Placenta Amnion	Placenta Amnion
32	chr3:196089600-196098200	Weak transcription	HMEC	breast
33	chr3:196089600-196106400	Weak transcription	HSMMtube	muscle
34	chr3:196089600-196113600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr3:196089600-196115600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
36	chr3:196089600-196150000	Weak transcription	Small Intestine	intestine
37	chr3:196089800-196109200	Weak transcription	Fetal Brain Male	brain
38	chr3:196089800-196115800	Weak transcription	HUVEC	blood vessel
39	chr3:196089800-196116200	Weak transcription	Colon Smooth Muscle	Colon
40	chr3:196090000-196097600	Weak transcription	Rectal Smooth Muscle	rectum
41	chr3:196090000-196098000	Weak transcription	Fetal Kidney	kidney
42	chr3:196090800-196096800	Weak transcription	Ovary	ovary
43	chr3:196090800-196106400	Weak transcription	NHLF	lung
44	chr3:196091400-196099000	Strong transcription	HUES48 Cell Line	embryonic stem cell
45	chr3:196091600-196095600	Strong transcription	Fetal Intestine Large	intestine
46	chr3:196091600-196096600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr3:196091600-196096800	Strong transcription	Primary T cells from cord blood	blood
48	chr3:196091800-196096600	Strong transcription	Primary B cells from cord blood	blood
49	chr3:196091800-196099800	Strong transcription	HUES64 Cell Line	embryonic stem cell
50	chr3:196092000-196098400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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