Variant report

Variant	rs55746937
Chromosome Location	chr11:66021869-66021870
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:66021617-66021941	SK-N-SH	brain:	n/a	n/a
2	POLR2A	chr11:66021563-66022095	GM12892	blood:	n/a	n/a

Variant related genes	Relation type
KLC2	TF binding region

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs2078069	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3814739	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4310623	0.83[ASN][1000 genomes]
rs479549	0.82[ASN][1000 genomes]
rs484261	0.92[EUR][1000 genomes]
rs4930173	0.92[ASN][1000 genomes]
rs4930344	0.92[ASN][1000 genomes]
rs4930345	0.94[ASN][1000 genomes]
rs4930346	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs513474	0.91[ASN][1000 genomes]
rs526200	0.85[ASN][1000 genomes]
rs534489	0.84[ASN][1000 genomes]
rs55838040	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs55931871	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56038054	0.92[ASN][1000 genomes]
rs561373	0.88[ASN][1000 genomes]
rs56151197	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56285664	0.88[ASN][1000 genomes]
rs57678007	0.92[ASN][1000 genomes]
rs7123153	0.91[ASN][1000 genomes]
rs7128537	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72936632	0.91[ASN][1000 genomes]
rs72936635	0.91[ASN][1000 genomes]
rs72936656	0.93[ASN][1000 genomes]
rs72936660	0.94[ASN][1000 genomes]
rs72936672	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72936699	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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	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
3	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
4	nsv897771	chr11:66011280-66362997	Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	124 gene(s)	inside rSNPs	diseases
5	nsv897772	chr11:66018155-66254085	Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS Weak transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS 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:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:65984600-66024200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr11:65989600-66024200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr11:65996000-66024400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr11:65999800-66024000	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr11:66000800-66024200	Weak transcription	HMEC	breast
6	chr11:66001600-66024200	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr11:66003400-66024200	Weak transcription	HepG2	liver
8	chr11:66003400-66024200	Weak transcription	NHDF-Ad	bronchial
9	chr11:66006800-66024600	Weak transcription	Ovary	ovary
10	chr11:66007000-66024200	Weak transcription	Rectal Smooth Muscle	rectum
11	chr11:66007200-66024200	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr11:66007800-66024200	Weak transcription	Small Intestine	intestine
13	chr11:66008000-66023800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr11:66009200-66024000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr11:66009600-66023600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
16	chr11:66009800-66023000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
17	chr11:66009800-66024000	Weak transcription	Colon Smooth Muscle	Colon
18	chr11:66010400-66024200	Weak transcription	Stomach Mucosa	stomach
19	chr11:66010600-66024000	Weak transcription	Primary B cells from cord blood	blood
20	chr11:66010600-66024200	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr11:66010600-66024200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr11:66010600-66024600	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr11:66010800-66024000	Weak transcription	Dnd41	blood
24	chr11:66010800-66024200	Weak transcription	Colonic Mucosa	Colon
25	chr11:66011000-66024400	Weak transcription	Right Atrium	heart
26	chr11:66011800-66024200	Weak transcription	Duodenum Mucosa	Duodenum
27	chr11:66011800-66024400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr11:66012400-66024200	Weak transcription	Primary hematopoietic stem cells	blood
29	chr11:66012600-66024000	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr11:66012600-66024200	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr11:66012600-66024200	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr11:66012600-66024200	Weak transcription	NH-A	brain
33	chr11:66012600-66024200	Weak transcription	NHEK	skin
34	chr11:66012600-66024400	Weak transcription	Fetal Kidney	kidney
35	chr11:66012600-66024600	Weak transcription	Aorta	Aorta
36	chr11:66012600-66024600	Weak transcription	Liver	Liver
37	chr11:66012800-66023800	Weak transcription	Skeletal Muscle Female	skeletal muscle
38	chr11:66012800-66024200	Weak transcription	Placenta Amnion	Placenta Amnion
39	chr11:66012800-66024200	Weak transcription	Right Ventricle	heart
40	chr11:66013000-66023600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
41	chr11:66013800-66024200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr11:66014000-66024200	Weak transcription	HSMMtube	muscle
43	chr11:66014600-66023800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
44	chr11:66015200-66023800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr11:66015400-66024200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr11:66017000-66024000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr11:66017600-66023800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
48	chr11:66018000-66024200	Weak transcription	Muscle Satellite Cultured Cells	--
49	chr11:66018200-66024000	Weak transcription	Fetal Heart	heart
50	chr11:66018200-66024200	Weak transcription	Brain Hippocampus Middle	brain

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