Variant report

Variant	rs11821548
Chromosome Location	chr11:66416453-66416454
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:66415213..66416948-chr11:66429969..66431509,2	K562	blood:
2	chr11:66328947..66331714-chr11:66414609..66416864,2	K562	blood:
3	chr11:66095661..66097663-chr11:66414195..66416836,2	K562	blood:
4	chr11:66383405..66386553-chr11:66413843..66417896,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000239306	Chromatin interaction
ENSG00000248643	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs11821197	1.00[AMR][1000 genomes]
rs11822858	1.00[AMR][1000 genomes]
rs11823149	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11823180	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11823504	1.00[AFR][1000 genomes]
rs11825713	1.00[AMR][1000 genomes]
rs11825882	1.00[AMR][1000 genomes]
rs11827300	1.00[AMR][1000 genomes]
rs11828258	1.00[AMR][1000 genomes]
rs2511007	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs34275473	1.00[AMR][1000 genomes]
rs6591224	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7104885	1.00[AMR][1000 genomes]
rs7104906	1.00[AMR][1000 genomes]
rs7105623	1.00[AMR][1000 genomes]
rs7110020	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7114229	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7118311	1.00[AMR][1000 genomes]
rs7120487	1.00[AMR][1000 genomes]
rs7120560	1.00[AFR][1000 genomes]
rs7121308	1.00[AMR][1000 genomes]
rs7128335	1.00[AMR][1000 genomes]
rs7131531	1.00[AMR][1000 genomes]
rs7925899	1.00[AMR][1000 genomes]
rs7929435	1.00[AMR][1000 genomes]
rs7937168	1.00[YRI][hapmap]
rs7940057	1.00[AMR][1000 genomes]
rs7946173	1.00[AMR][1000 genomes]
rs7949754	1.00[AFR][1000 genomes]
rs7951710	1.00[AMR][1000 genomes]
rs9666734	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	nsv522277	chr11:66234023-66493825	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	94 gene(s)	inside rSNPs	diseases
2	nsv897789	chr11:66372390-66634397	Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
3	nsv518919	chr11:66409409-66468469	Genic enhancers Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	nsv897790	chr11:66414915-66626234	Transcr. at gene 5' and 3' Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:66407000-66434400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr11:66409600-66418600	Strong transcription	H9 Cell Line	embryonic stem cell
3	chr11:66409800-66417800	Genic enhancers	Primary T killer naive cells fromperipheralblood	blood
4	chr11:66409800-66421600	Strong transcription	Primary monocytes fromperipheralblood	blood
5	chr11:66410200-66419000	Strong transcription	Primary neutrophils fromperipheralblood	blood
6	chr11:66410400-66417200	Strong transcription	NHEK	skin
7	chr11:66410400-66417800	Strong transcription	ES-I3 Cell Line	embryonic stem cell
8	chr11:66410600-66421200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
9	chr11:66411000-66421600	Strong transcription	HUES6 Cell Line	embryonic stem cell
10	chr11:66411200-66417800	Strong transcription	NHDF-Ad	bronchial
11	chr11:66411400-66421600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr11:66411600-66420600	Strong transcription	NHLF	lung
13	chr11:66411600-66421200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
14	chr11:66411800-66416800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr11:66411800-66418200	Strong transcription	H1 Cell Line	embryonic stem cell
16	chr11:66411800-66418400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr11:66411800-66421000	Strong transcription	Fetal Intestine Large	intestine
18	chr11:66411800-66436200	Strong transcription	Fetal Muscle Trunk	muscle
19	chr11:66411800-66436400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr11:66411800-66442800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr11:66412000-66434400	Strong transcription	Fetal Thymus	thymus
22	chr11:66412000-66438800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr11:66412200-66420000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr11:66412200-66421200	Strong transcription	HUES48 Cell Line	embryonic stem cell
25	chr11:66412400-66417000	Genic enhancers	Primary T helper naive cells from peripheral blood	blood
26	chr11:66412600-66418000	Strong transcription	Primary B cells from cord blood	blood
27	chr11:66412600-66421600	Strong transcription	Rectal Mucosa Donor 29	rectum
28	chr11:66412600-66421800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr11:66412600-66424800	Strong transcription	Monocytes-CD14+_RO01746	blood
30	chr11:66412800-66416800	Genic enhancers	Primary T helper cells fromperipheralblood	blood
31	chr11:66412800-66417600	Strong transcription	HMEC	breast
32	chr11:66412800-66418000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr11:66412800-66418000	Strong transcription	A549	lung
34	chr11:66412800-66420200	Strong transcription	Osteobl	bone
35	chr11:66412800-66420600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
36	chr11:66412800-66430600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr11:66412800-66435800	Strong transcription	Thymus	Thymus
38	chr11:66412800-66436800	Strong transcription	Fetal Intestine Small	intestine
39	chr11:66413000-66418400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr11:66413000-66420600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr11:66413000-66421200	Strong transcription	Muscle Satellite Cultured Cells	--
42	chr11:66413000-66421600	Strong transcription	HUES64 Cell Line	embryonic stem cell
43	chr11:66413000-66423400	Strong transcription	Cortex derived primary cultured neurospheres	brain
44	chr11:66413000-66435800	Strong transcription	Fetal Muscle Leg	muscle
45	chr11:66413000-66436600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr11:66413000-66440400	Strong transcription	Fetal Stomach	stomach
47	chr11:66413000-66442600	Weak transcription	Pancreatic Islets	Pancreatic Islet
48	chr11:66413200-66417000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
49	chr11:66413200-66419400	Strong transcription	Fetal Kidney	kidney
50	chr11:66413400-66417800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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