Variant report

Variant	rs541268
Chromosome Location	chr11:65988923-65988924
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:65983181..65985305-chr11:65986434..65989438,4	K562	blood:
2	chr11:65983052..65986048-chr11:65987938..65993154,6	K562	blood:
3	chr11:65987811..65990997-chr11:66051307..66054931,3	MCF-7	breast:
4	chr11:65985101..65987489-chr11:65988422..65991212,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000174851	Chromatin interaction
ENSG00000175115	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11227418	0.90[AFR][1000 genomes]
rs11227421	0.93[AFR][1000 genomes]
rs11227422	0.93[AFR][1000 genomes]
rs11823726	0.81[AFR][1000 genomes]
rs12290898	0.93[AFR][1000 genomes]
rs13328870	0.93[AFR][1000 genomes]
rs1627404	0.97[AFR][1000 genomes]
rs34725821	0.93[AFR][1000 genomes]
rs495684	0.97[AFR][1000 genomes]
rs501690	0.97[AFR][1000 genomes]
rs501979	0.97[AFR][1000 genomes]
rs561948	0.97[AFR][1000 genomes]
rs6591206	0.93[AFR][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	esv3335923	chr11:65741698-66175759	Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
2	esv1819302	chr11:65787660-66007018	Active TSS Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
3	esv3407551	chr11:65794503-66158322	Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
4	esv3392427	chr11:65981489-66273695	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	118 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	chr11:65958800-65989200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr11:65959200-65989400	Weak transcription	K562	blood
3	chr11:65961400-66011200	Weak transcription	Psoas Muscle	Psoas
4	chr11:65964000-65989600	Weak transcription	Stomach Mucosa	stomach
5	chr11:65976400-65989200	Strong transcription	Primary T helper cells fromperipheralblood	blood
6	chr11:65976400-65989600	Strong transcription	Primary T cells fromperipheralblood	blood
7	chr11:65976600-66006000	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr11:65976800-65989600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
9	chr11:65976800-65996000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr11:65977000-65989800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
11	chr11:65977200-65996000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr11:65977400-65990000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr11:65977400-66010600	Strong transcription	Fetal Stomach	stomach
14	chr11:65977600-65989400	Strong transcription	Primary T helper cells PMA-I stimulated	--
15	chr11:65977600-65989400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr11:65977600-65989600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr11:65977600-65989800	Strong transcription	Fetal Intestine Small	intestine
18	chr11:65977600-66018600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr11:65977800-65989400	Strong transcription	Adipose Nuclei	Adipose
20	chr11:65977800-65989800	Strong transcription	Primary T cells from cord blood	blood
21	chr11:65977800-65990000	Strong transcription	Fetal Muscle Leg	muscle
22	chr11:65978000-65989200	Strong transcription	Primary B cells from peripheral blood	blood
23	chr11:65978000-65989400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr11:65978000-65989800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr11:65978000-65993000	Strong transcription	Primary neutrophils fromperipheralblood	blood
26	chr11:65978800-65989800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr11:65979600-65989800	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr11:65979800-66001200	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr11:65980000-65994000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr11:65980400-65989200	Strong transcription	Primary B cells from cord blood	blood
31	chr11:65981200-65990200	Weak transcription	Fetal Kidney	kidney
32	chr11:65982000-65989000	Strong transcription	Esophagus	oesophagus
33	chr11:65982200-65989000	Strong transcription	Skeletal Muscle Male	skeletal muscle
34	chr11:65982200-65995800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
35	chr11:65982400-65989000	Strong transcription	Osteobl	bone
36	chr11:65982600-65989200	Strong transcription	A549	lung
37	chr11:65982800-65989000	Strong transcription	Duodenum Smooth Muscle	Duodenum
38	chr11:65982800-65989400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
39	chr11:65982800-65989400	Strong transcription	Stomach Smooth Muscle	stomach
40	chr11:65982800-65989800	Strong transcription	Fetal Muscle Trunk	muscle
41	chr11:65982800-65989800	Strong transcription	Thymus	Thymus
42	chr11:65982800-65989800	Strong transcription	Spleen	Spleen
43	chr11:65982800-65990000	Strong transcription	Monocytes-CD14+_RO01746	blood
44	chr11:65983000-65989600	Strong transcription	Fetal Brain Female	brain
45	chr11:65983400-65989000	Strong transcription	Right Ventricle	heart
46	chr11:65983400-65989400	Strong transcription	Placenta	Placenta
47	chr11:65983400-65989600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
48	chr11:65983400-65989600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr11:65983400-65989800	Weak transcription	H1 Cell Line	embryonic stem cell
50	chr11:65983400-65990000	Strong transcription	Gastric	stomach

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