Variant report

Variant	rs56134819
Chromosome Location	chr4:3146037-3146038
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:3074784..3076813-chr4:3146002..3148347,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000251075	Chromatin interaction
ENSG00000197386	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs16843871	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16843939	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16843945	0.93[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs2488810	1.00[ASN][1000 genomes]
rs28583552	0.81[AFR][1000 genomes]
rs3025837	0.81[AFR][1000 genomes]
rs3025838	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3025852	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3025853	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs363140	0.82[AFR][1000 genomes]
rs56021098	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56148664	1.00[AMR][1000 genomes]
rs57792935	1.00[AMR][1000 genomes]
rs57875258	1.00[AMR][1000 genomes]
rs60215756	0.81[AFR][1000 genomes]
rs6813198	0.81[AFR][1000 genomes]
rs6836289	1.00[AMR][1000 genomes]
rs6856403	0.81[AFR][1000 genomes]
rs73792195	0.83[AMR][1000 genomes]
rs73792352	0.84[AFR][1000 genomes]
rs7442144	0.83[AMR][1000 genomes]
rs7667172	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7678336	0.84[AFR][1000 genomes]
rs7698150	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3418626	chr4:2741174-3461492	Genic enhancers Weak transcription Active TSS Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
2	esv3397632	chr4:2741239-3460583	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats 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	63 gene(s)	inside rSNPs	diseases
3	nsv461163	chr4:2906285-3234980	Enhancers Strong transcription Flanking Active TSS Genic enhancers Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
4	nsv593437	chr4:2906285-3234980	Genic enhancers Active TSS Strong transcription Enhancers Flanking Active TSS Weak transcription 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	52 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:3088200-3164200	Strong transcription	Primary monocytes fromperipheralblood	blood
2	chr4:3097200-3162200	Strong transcription	HUES64 Cell Line	embryonic stem cell
3	chr4:3097400-3163800	Strong transcription	HUES48 Cell Line	embryonic stem cell
4	chr4:3098000-3162600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr4:3100000-3159400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr4:3108600-3163000	Strong transcription	Monocytes-CD14+_RO01746	blood
7	chr4:3108800-3164600	Strong transcription	Primary neutrophils fromperipheralblood	blood
8	chr4:3114600-3292400	Weak transcription	Right Atrium	heart
9	chr4:3114800-3162800	Strong transcription	HUES6 Cell Line	embryonic stem cell
10	chr4:3115800-3161600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr4:3115800-3162800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
12	chr4:3125200-3163000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr4:3125200-3163200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr4:3126800-3164400	Strong transcription	Primary T helper cells fromperipheralblood	blood
15	chr4:3127000-3164400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr4:3127200-3146800	Strong transcription	Fetal Stomach	stomach
17	chr4:3127200-3152600	Strong transcription	Primary T cells fromperipheralblood	blood
18	chr4:3127200-3157200	Strong transcription	Sigmoid Colon	Sigmoid Colon
19	chr4:3127200-3163400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr4:3127200-3163400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr4:3127200-3163400	Strong transcription	Fetal Muscle Trunk	muscle
22	chr4:3127200-3163600	Strong transcription	Fetal Intestine Large	intestine
23	chr4:3127200-3164200	Strong transcription	Fetal Muscle Leg	muscle
24	chr4:3127200-3164400	Strong transcription	Primary B cells from peripheral blood	blood
25	chr4:3130800-3148200	Weak transcription	Small Intestine	intestine
26	chr4:3131200-3162600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr4:3131600-3146800	Strong transcription	Fetal Intestine Small	intestine
28	chr4:3133400-3155000	Weak transcription	Fetal Heart	heart
29	chr4:3134600-3148400	Weak transcription	Psoas Muscle	Psoas
30	chr4:3134600-3148600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr4:3134800-3162000	Weak transcription	Hela-S3	cervix
32	chr4:3135800-3148600	Weak transcription	Pancreas	Pancrea
33	chr4:3136200-3148400	Weak transcription	NHLF	lung
34	chr4:3136400-3147800	Weak transcription	Right Ventricle	heart
35	chr4:3136400-3148000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
36	chr4:3136400-3148400	Weak transcription	Ovary	ovary
37	chr4:3136400-3149400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr4:3136400-3149400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr4:3136400-3151400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr4:3136600-3156000	Weak transcription	Stomach Mucosa	stomach
41	chr4:3136800-3148800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr4:3137400-3148400	Weak transcription	Esophagus	oesophagus
43	chr4:3137600-3146600	Weak transcription	Brain Angular Gyrus	brain
44	chr4:3137800-3148000	Weak transcription	Brain Germinal Matrix	brain
45	chr4:3137800-3163400	Strong transcription	Liver	Liver
46	chr4:3138000-3146400	Weak transcription	A549	lung
47	chr4:3139600-3164800	Strong transcription	Duodenum Mucosa	Duodenum
48	chr4:3139800-3148200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
49	chr4:3141400-3146200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
50	chr4:3142400-3147600	Weak transcription	Fetal Kidney	kidney

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