Variant report

Variant	rs11088449
Chromosome Location	chr21:40185397-40185398
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:40184185..40186181-chr21:40274030..40276834,2	MCF-7	breast:
2	chr21:40184223..40185777-chr21:40281184..40284011,2	K562	blood:
3	chr21:40183745..40185634-chr21:40221836..40225935,3	K562	blood:
4	chr21:40104619..40107467-chr21:40182654..40185637,2	K562	blood:
5	chr21:40184134..40185724-chr21:40220746..40223336,2	K562	blood:

Extended variants
information (count: 10 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1051476	0.81[CEU][hapmap]
rs10854389	0.81[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs2070531	0.88[CEU][hapmap]
rs2283638	0.90[EUR][1000 genomes]
rs2283639	0.88[CEU][hapmap];0.90[EUR][1000 genomes]
rs714781	0.90[EUR][1000 genomes]
rs9941892	0.80[CEU][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	nsv1058591	chr21:40114130-40190594	Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv1062425	chr21:40172471-40380976	Enhancers Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv544442	chr21:40172471-40380976	Enhancers Genic enhancers Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 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	chr21:40180000-40186200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr21:40180200-40185800	Enhancers	iPS-15b Cell Line	embryonic stem cell
3	chr21:40180200-40186200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr21:40180200-40198400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr21:40180400-40186400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr21:40180400-40186400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr21:40180400-40186600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr21:40180600-40186200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr21:40180600-40188400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr21:40181000-40186200	Weak transcription	Brain Angular Gyrus	brain
11	chr21:40181000-40186400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr21:40181200-40187400	Strong transcription	Primary T cells from cord blood	blood
13	chr21:40181400-40185400	Weak transcription	Fetal Kidney	kidney
14	chr21:40181600-40189000	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr21:40181600-40192600	Strong transcription	Skeletal Muscle Male	skeletal muscle
16	chr21:40181600-40193600	Strong transcription	Fetal Muscle Leg	muscle
17	chr21:40181800-40185600	Weak transcription	GM12878-XiMat	blood
18	chr21:40181800-40186200	Weak transcription	Esophagus	oesophagus
19	chr21:40181800-40186400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr21:40181800-40187400	Genic enhancers	HepG2	liver
21	chr21:40181800-40188400	Weak transcription	Primary B cells from peripheral blood	blood
22	chr21:40181800-40189400	Strong transcription	Placenta	Placenta
23	chr21:40181800-40193800	Strong transcription	Fetal Muscle Trunk	muscle
24	chr21:40181800-40197000	Strong transcription	Fetal Thymus	thymus
25	chr21:40182000-40196600	Strong transcription	Primary T helper cells fromperipheralblood	blood
26	chr21:40182200-40187200	Transcr. at gene 5' and 3'	Rectal Mucosa Donor 29	rectum
27	chr21:40182400-40186400	Strong transcription	Skeletal Muscle Female	skeletal muscle
28	chr21:40182600-40185400	Genic enhancers	Fetal Intestine Large	intestine
29	chr21:40182600-40186800	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr21:40182600-40189400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
31	chr21:40182800-40185600	Weak transcription	Colonic Mucosa	Colon
32	chr21:40182800-40186200	Weak transcription	Primary B cells from cord blood	blood
33	chr21:40183000-40185400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
34	chr21:40183000-40185400	Weak transcription	Psoas Muscle	Psoas
35	chr21:40183000-40185600	Genic enhancers	Fetal Lung	lung
36	chr21:40183000-40186200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr21:40183000-40186400	Strong transcription	NHLF	lung
38	chr21:40183000-40186600	Genic enhancers	Rectal Mucosa Donor 31	rectum
39	chr21:40183000-40187200	Genic enhancers	Fetal Intestine Small	intestine
40	chr21:40183000-40196600	Strong transcription	Primary T helper cells PMA-I stimulated	--
41	chr21:40183200-40185600	Weak transcription	Right Ventricle	heart
42	chr21:40183200-40189600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr21:40183400-40186200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
44	chr21:40183400-40186600	Genic enhancers	HUES48 Cell Line	embryonic stem cell
45	chr21:40183600-40185400	Genic enhancers	A549	lung
46	chr21:40183600-40185600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr21:40183600-40186000	Genic enhancers	iPS-20b Cell Line	embryonic stem cell
48	chr21:40183600-40186800	Genic enhancers	HUES64 Cell Line	embryonic stem cell
49	chr21:40183600-40196800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr21:40183800-40185400	Genic enhancers	Left Ventricle	heart

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