Variant report

Variant	rs11130548
Chromosome Location	chr3:56821402-56821403
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:56817648..56820572-chr3:56821053..56824731,3	K562	blood:
2	chr3:56589722..56592080-chr3:56820437..56823322,2	K562	blood:
3	chr3:56817895..56820572-chr3:56821053..56822921,2	K562	blood:

Variant related genes	Relation type
ENSG00000180376	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10222681	0.84[EUR][1000 genomes]
rs10428123	0.81[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2171855	0.80[EUR][1000 genomes]
rs2171857	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2171858	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2276720	0.80[EUR][1000 genomes]
rs61285684	0.82[ASN][1000 genomes]
rs6445825	0.87[ASN][1000 genomes]
rs6793417	0.87[ASN][1000 genomes]
rs6794153	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7627647	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7642971	0.87[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs9851853	0.83[EUR][1000 genomes]
rs9871950	0.86[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs9874011	0.83[EUR][1000 genomes]
rs9882898	0.87[EUR][1000 genomes]
rs9883458	0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv876818	chr3:56805376-56924711	Enhancers Active TSS Weak transcription Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:56807000-56833200	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr3:56810000-56822200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr3:56814600-56826800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
4	chr3:56814800-56826600	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr3:56815600-56823400	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr3:56815800-56824200	Enhancers	Fetal Heart	heart
7	chr3:56816000-56825400	Enhancers	Primary B cells from peripheral blood	blood
8	chr3:56816200-56827000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
9	chr3:56816600-56823200	Enhancers	Brain Germinal Matrix	brain
10	chr3:56817000-56823600	Enhancers	Brain Cingulate Gyrus	brain
11	chr3:56818000-56827000	Enhancers	Primary hematopoietic stem cells short term culture	blood
12	chr3:56818200-56826800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr3:56818200-56829400	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr3:56818400-56822000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr3:56818600-56821800	Weak transcription	Fetal Stomach	stomach
16	chr3:56818600-56822200	Weak transcription	Esophagus	oesophagus
17	chr3:56818600-56824000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
18	chr3:56818600-56824200	Enhancers	Primary T cells from cord blood	blood
19	chr3:56818600-56826200	Enhancers	Primary T helper cells fromperipheralblood	blood
20	chr3:56818600-56829000	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr3:56818600-56832000	Weak transcription	Rectal Smooth Muscle	rectum
22	chr3:56818800-56822200	Weak transcription	Colonic Mucosa	Colon
23	chr3:56818800-56822200	Weak transcription	Colon Smooth Muscle	Colon
24	chr3:56818800-56822200	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr3:56818800-56822600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr3:56819000-56829000	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr3:56819000-56830400	Weak transcription	HSMM	muscle
28	chr3:56819200-56822600	Weak transcription	Stomach Mucosa	stomach
29	chr3:56819200-56824200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
30	chr3:56819200-56824400	Weak transcription	Gastric	stomach
31	chr3:56819200-56834400	Weak transcription	Fetal Muscle Trunk	muscle
32	chr3:56819400-56822000	Weak transcription	HSMMtube	muscle
33	chr3:56819400-56822400	Genic enhancers	Fetal Thymus	thymus
34	chr3:56819600-56821800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
35	chr3:56819600-56821800	Weak transcription	Duodenum Mucosa	Duodenum
36	chr3:56819600-56822800	Enhancers	Monocytes-CD14+_RO01746	blood
37	chr3:56819600-56829000	Weak transcription	Placenta	Placenta
38	chr3:56819800-56821600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
39	chr3:56819800-56821800	Weak transcription	NHEK	skin
40	chr3:56819800-56828000	Enhancers	Primary T cells fromperipheralblood	blood
41	chr3:56820000-56821600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr3:56820000-56821800	Weak transcription	HMEC	breast
43	chr3:56820000-56823800	Genic enhancers	Dnd41	blood
44	chr3:56820000-56823800	Weak transcription	HepG2	liver
45	chr3:56820400-56821600	Enhancers	Brain Substantia Nigra	brain
46	chr3:56820400-56824800	Enhancers	Brain Anterior Caudate	brain
47	chr3:56820400-56825600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr3:56820400-56829000	Weak transcription	Fetal Kidney	kidney
49	chr3:56820600-56824000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr3:56820600-56824200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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