Variant report

Variant	rs72936687
Chromosome Location	chr11:66023594-66023595
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:61)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:66023582-66023632	NT2-D1	testis:	n/a
2	chr11:66023582-66023632	SKMC	muscle:	n/a
3	chr11:66023582-66023632	Caco-2	colon:	n/a
4	chr11:66023582-66023632	GM19239	blood:	n/a
5	chr11:66023582-66023632	HCPEpiC	choroid plexus:	n/a
6	chr11:66023582-66023632	AG09309	skin:	n/a
7	chr11:66023582-66023632	SK-N-MC	brain:	n/a
8	chr11:66023582-66023632	Jurkat	blood:	n/a
9	chr11:66023582-66023632	NHBE	bronchial:	n/a
10	chr11:66023582-66023632	AG10803	skin:	n/a
11	chr11:66023582-66023632	HCF	heart:	n/a
12	chr11:66023582-66023632	GM12891	blood:	n/a
13	chr11:66023582-66023632	Hela-S3	cervix:	n/a
14	chr11:66023582-66023632	SAEC	small airway:	n/a
15	chr11:66023582-66023632	IMR90	lung:	fetal
16	chr11:66023582-66023632	GM06990	blood:	n/a
17	chr11:66023582-66023632	NH-A	brain:	n/a
18	chr11:66023582-66023632	PrEC	prostate:	n/a
19	chr11:66023582-66023632	RPTEC	kidney:	n/a
20	chr11:66023582-66023632	Hepatocyte	liver:	n/a
21	chr11:66023582-66023632	BJ	skin:	n/a
22	chr11:66023582-66023632	HEK293	kidney:	embryo
23	chr11:66023582-66023632	LNCaP	prostate:	n/a
24	chr11:66023582-66023632	AG04449	skin:	fetal
25	chr11:66023582-66023632	K562	blood:	n/a
26	chr11:66023582-66023632	H1-hESC	embryonic stem cell:	embryo
27	chr11:66023582-66023632	MCF10A-Er-Src	breast:	n/a
28	chr11:66023582-66023632	HIPEpiC	eye:	n/a
29	chr11:66023582-66023632	AG09319	gingival:	n/a
30	chr11:66023582-66023632	MCF-7	breast:	n/a
31	chr11:66023582-66023632	ECC-1	luminal epithelium:	n/a
32	chr11:66023582-66023632	NHDF-neo	bronchial:	n/a
33	chr11:66023582-66023632	HRCEpiC	kidney:	n/a
34	chr11:66023582-66023632	U87	brain:	n/a
35	chr11:66023582-66023632	CMK	blood:	n/a
36	chr11:66023582-66023632	HRE	kidney:	n/a
37	chr11:66023582-66023632	HNPCEpiC	eye:	n/a
38	chr11:66023582-66023632	PANC-1	pancreas:	n/a
39	chr11:66023582-66023632	GM12892	blood:	n/a
40	chr11:66023582-66023632	BE2_C	brain:	n/a
41	chr11:66023582-66023632	HL-60	blood:	n/a
42	chr11:66023582-66023632	SK-N-SH_RA	brain:	n/a
43	chr11:66023582-66023632	SK-N-SH	brain:	n/a
44	chr11:66023582-66023632	HUVEC	blood vessel:	n/a
45	chr11:66023582-66023632	HEEpiC	esophagus:	n/a
46	chr11:66023582-66023632	HCT-116	colon:	n/a
47	chr11:66023582-66023632	HMEC	breast:	n/a
48	chr11:66023582-66023632	T-47D	breast:	n/a
49	chr11:66023582-66023632	PFSK-1	brain:	n/a
50	chr11:66023582-66023632	NB4	blood:	n/a

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:66023062..66027568-chr11:66043406..66047432,6	MCF-7	breast:
2	chr11:65836209..65839676-chr11:66023244..66028603,5	K562	blood:
3	chr11:66023140..66025945-chr11:66052736..66056629,3	MCF-7	breast:
4	chr11:65836209..65839625-chr11:66023244..66027607,5	K562	blood:

No data

Variant related genes	Relation type
KLC2	CpG island
ENSG00000174851	Chromatin interaction
ENSG00000175115	Chromatin interaction
ENSG00000254452	Chromatin interaction
ENSG00000255038	Chromatin interaction
ENSG00000245156	Chromatin interaction
ENSG00000174871	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1300706	1.00[EUR][1000 genomes]
rs496438	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs55640200	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55701638	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs559298	1.00[EUR][1000 genomes]
rs572827	0.96[EUR][1000 genomes]
rs72936614	0.89[EUR][1000 genomes]
rs72936669	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72936679	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72936683	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72936686	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72936689	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72938506	0.92[AMR][1000 genomes];0.92[EUR][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	chr11:66009800-66024000	Weak transcription	Colon Smooth Muscle	Colon
17	chr11:66010400-66024200	Weak transcription	Stomach Mucosa	stomach
18	chr11:66010600-66024000	Weak transcription	Primary B cells from cord blood	blood
19	chr11:66010600-66024200	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr11:66010600-66024200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr11:66010600-66024600	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr11:66010800-66024000	Weak transcription	Dnd41	blood
23	chr11:66010800-66024200	Weak transcription	Colonic Mucosa	Colon
24	chr11:66011000-66024400	Weak transcription	Right Atrium	heart
25	chr11:66011800-66024200	Weak transcription	Duodenum Mucosa	Duodenum
26	chr11:66011800-66024400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr11:66012400-66024200	Weak transcription	Primary hematopoietic stem cells	blood
28	chr11:66012600-66024000	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr11:66012600-66024200	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr11:66012600-66024200	Weak transcription	Rectal Mucosa Donor 29	rectum
31	chr11:66012600-66024200	Weak transcription	NH-A	brain
32	chr11:66012600-66024200	Weak transcription	NHEK	skin
33	chr11:66012600-66024400	Weak transcription	Fetal Kidney	kidney
34	chr11:66012600-66024600	Weak transcription	Aorta	Aorta
35	chr11:66012600-66024600	Weak transcription	Liver	Liver
36	chr11:66012800-66023800	Weak transcription	Skeletal Muscle Female	skeletal muscle
37	chr11:66012800-66024200	Weak transcription	Placenta Amnion	Placenta Amnion
38	chr11:66012800-66024200	Weak transcription	Right Ventricle	heart
39	chr11:66013000-66023600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
40	chr11:66013800-66024200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr11:66014000-66024200	Weak transcription	HSMMtube	muscle
42	chr11:66014600-66023800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr11:66015200-66023800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr11:66015400-66024200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr11:66017000-66024000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr11:66017600-66023800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
47	chr11:66018000-66024200	Weak transcription	Muscle Satellite Cultured Cells	--
48	chr11:66018200-66024000	Weak transcription	Fetal Heart	heart
49	chr11:66018200-66024200	Weak transcription	Brain Hippocampus Middle	brain
50	chr11:66018200-66024400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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