Variant report

Variant	rs3213948
Chromosome Location	chr4:56734701-56734702
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:56727001..56729322-chr4:56730712..56734877,3	K562	blood:
2	chr4:56718859..56722818-chr4:56731263..56734870,6	K562	blood:
3	chr4:56733117..56736188-chr4:56740397..56743875,4	K562	blood:
4	chr4:56733409..56735263-chr4:56739400..56741094,2	MCF-7	breast:
5	chr4:56734450..56737481-chr4:56739957..56742859,3	K562	blood:
6	chr4:56718974..56722726-chr4:56731263..56734718,5	K562	blood:

Variant related genes	Relation type
ENSG00000090989	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10014211	0.81[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1947128	0.89[CEU][hapmap];0.86[EUR][1000 genomes]
rs1947130	0.88[EUR][1000 genomes]
rs1979063	0.92[CEU][hapmap];0.95[TSI][hapmap];0.90[EUR][1000 genomes]
rs4865041	0.92[CEU][hapmap];0.95[TSI][hapmap];0.89[EUR][1000 genomes]
rs6830943	0.92[CEU][hapmap];0.90[EUR][1000 genomes]
rs7687289	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2755990	chr4:56317136-57143037	Strong transcription Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
2	nsv10496	chr4:56336946-56841137	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
3	nsv1005845	chr4:56522075-56980357	Active TSS Bivalent Enhancer Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
4	esv3406311	chr4:56580578-56840877	ZNF genes & repeats Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
5	nsv427681	chr4:56651921-56908209	Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 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	chr4:56720400-56764600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr4:56720600-56747400	Weak transcription	Spleen	Spleen
3	chr4:56720800-56735200	Weak transcription	Esophagus	oesophagus
4	chr4:56720800-56737200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr4:56720800-56761800	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr4:56721000-56747400	Weak transcription	Aorta	Aorta
7	chr4:56721400-56735800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr4:56721600-56774600	Weak transcription	Fetal Heart	heart
9	chr4:56722000-56735800	Weak transcription	Fetal Brain Male	brain
10	chr4:56722000-56747200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr4:56722200-56737200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr4:56722400-56734800	Weak transcription	Small Intestine	intestine
13	chr4:56722400-56735000	Weak transcription	Psoas Muscle	Psoas
14	chr4:56724400-56752400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr4:56724600-56734800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr4:56727600-56734800	Weak transcription	Ovary	ovary
17	chr4:56727600-56736800	Weak transcription	HepG2	liver
18	chr4:56727600-56742400	Weak transcription	Right Ventricle	heart
19	chr4:56729800-56734800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr4:56729800-56735200	Weak transcription	Gastric	stomach
21	chr4:56729800-56737200	Weak transcription	Fetal Intestine Small	intestine
22	chr4:56731600-56744200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr4:56731800-56747200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr4:56732000-56736400	Weak transcription	Colon Smooth Muscle	Colon
25	chr4:56732200-56737200	Weak transcription	Pancreas	Pancrea
26	chr4:56732400-56734800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr4:56732600-56754000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr4:56733000-56737200	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr4:56733200-56734800	Weak transcription	Rectal Smooth Muscle	rectum
30	chr4:56733200-56737200	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr4:56733200-56747200	Weak transcription	Placenta Amnion	Placenta Amnion
32	chr4:56733200-56763000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr4:56733400-56741600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr4:56733600-56736600	Weak transcription	A549	lung
35	chr4:56733600-56742000	Strong transcription	Dnd41	blood
36	chr4:56733600-56763000	Weak transcription	Stomach Mucosa	stomach
37	chr4:56733800-56734800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
38	chr4:56733800-56734800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
39	chr4:56733800-56736600	Weak transcription	HMEC	breast
40	chr4:56733800-56737200	Weak transcription	NHEK	skin
41	chr4:56733800-56740200	Strong transcription	GM12878-XiMat	blood
42	chr4:56733800-56772200	Weak transcription	Hela-S3	cervix
43	chr4:56733800-56772800	Strong transcription	Monocytes-CD14+_RO01746	blood
44	chr4:56734000-56736000	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
45	chr4:56734000-56737800	Strong transcription	Primary hematopoietic stem cells	blood
46	chr4:56734000-56738000	Strong transcription	Brain Hippocampus Middle	brain
47	chr4:56734000-56740000	Strong transcription	HUES48 Cell Line	embryonic stem cell
48	chr4:56734000-56740200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr4:56734000-56741800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr4:56734400-56734800	Genic enhancers	HSMM	muscle

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