Variant report

Variant	rs2868603
Chromosome Location	chr11:47487337-47487338
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:47486877..47488981-chr11:47490201..47491950,2	K562	blood:
2	chr11:47486712..47489555-chr11:47586746..47588709,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000149187	Chromatin interaction
ENSG00000213619	Chromatin interaction
ENSG00000110536	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs1017594	1.00[AFR][1000 genomes]
rs10466401	1.00[AFR][1000 genomes]
rs10742808	1.00[AFR][1000 genomes]
rs10769261	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs10769269	1.00[AFR][1000 genomes]
rs10838701	1.00[AFR][1000 genomes]
rs11039196	1.00[AFR][1000 genomes]
rs11039228	1.00[AFR][1000 genomes]
rs11602132	1.00[AFR][1000 genomes]
rs2020057	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs2084541	1.00[AFR][1000 genomes]
rs2868447	1.00[AFR][1000 genomes]
rs4519056	1.00[AFR][1000 genomes]
rs4752826	1.00[AFR][1000 genomes]
rs4752831	1.00[AFR][1000 genomes]
rs4752841	1.00[AFR][1000 genomes]
rs4752982	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs4752985	1.00[AFR][1000 genomes]
rs4752989	1.00[AFR][1000 genomes]
rs4752991	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs4752995	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs6485754	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs6485757	1.00[YRI][hapmap]
rs7105005	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs7116487	1.00[YRI][hapmap]
rs7119799	1.00[AFR][1000 genomes]
rs7932148	1.00[AFR][1000 genomes]
rs7934846	1.00[AFR][1000 genomes]
rs7940413	1.00[YRI][hapmap]
rs7951044	1.00[AFR][1000 genomes]
rs963331	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs9666418	1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832141	chr11:47333180-47520993	Flanking Active TSS Genic enhancers Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
2	nsv897325	chr11:47411736-47600438	Active TSS Flanking Active TSS Strong transcription Weak transcription Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
3	nsv1036011	chr11:47413060-47582279	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	50 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	chr11:47448600-47488400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr11:47457400-47488400	Weak transcription	Gastric	stomach
3	chr11:47471200-47488400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr11:47471400-47489200	Weak transcription	HepG2	liver
5	chr11:47476000-47487400	Weak transcription	Brain Cingulate Gyrus	brain
6	chr11:47476200-47488200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
7	chr11:47476600-47487400	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr11:47476600-47488400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr11:47476600-47488600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr11:47477000-47487600	Weak transcription	Brain Substantia Nigra	brain
11	chr11:47478200-47488400	Weak transcription	Esophagus	oesophagus
12	chr11:47479400-47488200	Weak transcription	Colonic Mucosa	Colon
13	chr11:47479400-47491200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr11:47479600-47489800	Weak transcription	Fetal Kidney	kidney
15	chr11:47479600-47491400	Weak transcription	Aorta	Aorta
16	chr11:47479800-47489000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
17	chr11:47479800-47494400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr11:47480000-47487800	Strong transcription	Fetal Stomach	stomach
19	chr11:47480000-47510000	Strong transcription	Thymus	Thymus
20	chr11:47480200-47488800	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr11:47480600-47489000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr11:47480600-47508400	Strong transcription	Fetal Intestine Small	intestine
23	chr11:47480800-47511000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr11:47480800-47511400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
25	chr11:47481000-47498400	Strong transcription	NHEK	skin
26	chr11:47481200-47487400	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr11:47481400-47488200	Weak transcription	Pancreas	Pancrea
28	chr11:47482200-47487400	Weak transcription	Brain Angular Gyrus	brain
29	chr11:47482200-47488800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr11:47482200-47489000	Strong transcription	Primary T cells fromperipheralblood	blood
31	chr11:47482400-47488200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr11:47482600-47488200	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr11:47482600-47488600	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr11:47482800-47488200	Weak transcription	Fetal Heart	heart
35	chr11:47483400-47487800	Weak transcription	Rectal Smooth Muscle	rectum
36	chr11:47483400-47508800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr11:47483600-47487600	Strong transcription	Sigmoid Colon	Sigmoid Colon
38	chr11:47483600-47511400	Strong transcription	Dnd41	blood
39	chr11:47483800-47488000	Weak transcription	Fetal Brain Male	brain
40	chr11:47484000-47488400	Weak transcription	H1 Cell Line	embryonic stem cell
41	chr11:47484200-47489000	Weak transcription	Psoas Muscle	Psoas
42	chr11:47484800-47487600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr11:47484800-47488400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr11:47484800-47490800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
45	chr11:47484800-47504800	Strong transcription	Monocytes-CD14+_RO01746	blood
46	chr11:47484800-47510600	Strong transcription	Primary neutrophils fromperipheralblood	blood
47	chr11:47484800-47511000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
48	chr11:47485000-47487400	Strong transcription	Fetal Intestine Large	intestine
49	chr11:47485000-47487600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
50	chr11:47485000-47488200	Strong transcription	Fetal Muscle Trunk	muscle

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