Variant report

Variant	rs11537993
Chromosome Location	chr11:66109033-66109034
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:7)
CpG islands
(count:61)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:7 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BCL3	chr11:66108680-66109648	GM12878	blood:	n/a	n/a
2	POLR2A	chr11:66108704-66110024	GM12878	blood:	n/a	n/a
3	POLR2A	chr11:66108952-66109595	GM12892	blood:	n/a	n/a
4	POLR2A	chr11:66108956-66109539	GM12892	blood:	n/a	n/a
5	POLR2A	chr11:66108960-66109694	HepG2	liver:	n/a	n/a
6	STAT5A	chr11:66108956-66109252	GM12878	blood:	n/a	chr11:66109014-66109038
7	POLR2A	chr11:66108929-66109127	K562	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:66109018-66109068	HMEC	breast:	n/a
2	chr11:66109018-66109068	HCF	heart:	n/a
3	chr11:66109018-66109068	PANC-1	pancreas:	n/a
4	chr11:66109018-66109068	PrEC	prostate:	n/a
5	chr11:66109018-66109068	LNCaP	prostate:	n/a
6	chr11:66109018-66109068	AG04450	lung:	fetal
7	chr11:66109018-66109068	GM06990	blood:	n/a
8	chr11:66109018-66109068	AG09319	gingival:	n/a
9	chr11:66109018-66109068	HPAEpiC	pulmonary alveolar:	n/a
10	chr11:66109018-66109068	HNPCEpiC	eye:	n/a
11	chr11:66109018-66109068	HCT-116	colon:	n/a
12	chr11:66109018-66109068	HEK293	kidney:	embryo
13	chr11:66109018-66109068	ProgFib	skin:	n/a
14	chr11:66109018-66109068	SKMC	muscle:	n/a
15	chr11:66109018-66109068	BE2_C	brain:	n/a
16	chr11:66109018-66109068	HAEpiC	amniotic membrane:	n/a
17	chr11:66109018-66109068	Jurkat	blood:	n/a
18	chr11:66109018-66109068	A549	lung:	n/a
19	chr11:66109018-66109068	HUVEC	blood vessel:	n/a
20	chr11:66109018-66109068	SAEC	small airway:	n/a
21	chr11:66109018-66109068	HepG2	liver:	n/a
22	chr11:66109018-66109068	ECC-1	luminal epithelium:	n/a
23	chr11:66109018-66109068	PFSK-1	brain:	n/a
24	chr11:66109018-66109068	NT2-D1	testis:	n/a
25	chr11:66109018-66109068	IMR90	lung:	fetal
26	chr11:66109018-66109068	NB4	blood:	n/a
27	chr11:66109018-66109068	K562	blood:	n/a
28	chr11:66109018-66109068	CMK	blood:	n/a
29	chr11:66109018-66109068	NHBE	bronchial:	n/a
30	chr11:66109018-66109068	HRCEpiC	kidney:	n/a
31	chr11:66109018-66109068	BJ	skin:	n/a
32	chr11:66109018-66109068	MCF-7	breast:	n/a
33	chr11:66109018-66109068	U87	brain:	n/a
34	chr11:66109018-66109068	GM12892	blood:	n/a
35	chr11:66109018-66109068	HL-60	blood:	n/a
36	chr11:66109018-66109068	H1-hESC	embryonic stem cell:	embryo
37	chr11:66109018-66109068	AG10803	skin:	n/a
38	chr11:66109018-66109068	NHDF-neo	bronchial:	n/a
39	chr11:66109018-66109068	Caco-2	colon:	n/a
40	chr11:66109018-66109068	SK-N-MC	brain:	n/a
41	chr11:66109018-66109068	Hepatocyte	liver:	n/a
42	chr11:66109018-66109068	ovcar-3	ovarian:	n/a
43	chr11:66109018-66109068	HCPEpiC	choroid plexus:	n/a
44	chr11:66109018-66109068	AG09309	skin:	n/a
45	chr11:66109018-66109068	HCM	heart:	n/a
46	chr11:66109018-66109068	AoSMC	blood vessel:	n/a
47	chr11:66109018-66109068	GM12891	blood:	n/a
48	chr11:66109018-66109068	GM19239	blood:	n/a
49	chr11:66109018-66109068	HRE	kidney:	n/a
50	chr11:66109018-66109068	HRPEpiC	eye:	n/a

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:66108839..66110813-chr11:66110934..66112585,3	K562	blood:
2	chr11:66108764..66111622-chr11:66204863..66206886,2	K562	blood:
3	chr11:66108426..66118730-chr11:66133678..66141000,25	MCF-7	breast:
4	chr11:66092468..66094191-chr11:66107437..66109172,2	K562	blood:
5	chr11:66103854..66118324-chr11:66119048..66141728,55	K562	blood:

No data

Variant related genes	Relation type
RIN1	TF binding region
RIN1	CpG island
ENSG00000174744	Chromatin interaction
ENSG00000174669	Chromatin interaction
ENSG00000174547	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 7 )

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

rs_ID	r²[population]
rs17496250	1.00[YRI][hapmap]
rs2282529	1.00[YRI][hapmap]
rs35166611	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3741367	0.81[CEU][hapmap]
rs3816492	1.00[YRI][hapmap]
rs523583	0.81[CEU][hapmap]
rs72940579	0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 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
6	nsv897780	chr11:66083129-66362997	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
7	nsv897781	chr11:66095967-66116911	Flanking Active TSS Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
8	nsv897782	chr11:66099222-66116911	Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
9	esv3328878	chr11:66107076-66111474	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases
10	nsv897783	chr11:66107527-66118676	Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs11537993	SLC25A45	cis	parietal	SCAN
rs11537993	SCGB2A2	cis	parietal	SCAN
rs11537993	ASRGL1	cis	parietal	SCAN
rs11537993	ESRRA	cis	cerebellum	SCAN
rs11537993	PTPRCAP	cis	parietal	SCAN
rs11537993	ALDH3B1	cis	parietal	SCAN
rs11537993	MACROD1	cis	parietal	SCAN

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:66104400-66110400	Strong transcription	Dnd41	blood
2	chr11:66104600-66109800	Strong transcription	Colonic Mucosa	Colon
3	chr11:66104600-66109800	Strong transcription	Lung	lung
4	chr11:66104600-66110000	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr11:66104600-66110400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr11:66104600-66110400	Strong transcription	Fetal Intestine Large	intestine
7	chr11:66104600-66110400	Strong transcription	Right Ventricle	heart
8	chr11:66104600-66110800	Strong transcription	Primary neutrophils fromperipheralblood	blood
9	chr11:66104600-66111600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr11:66104800-66109600	Strong transcription	Brain Substantia Nigra	brain
11	chr11:66104800-66109600	Strong transcription	Rectal Smooth Muscle	rectum
12	chr11:66104800-66109800	Strong transcription	Left Ventricle	heart
13	chr11:66104800-66110000	Strong transcription	HUES64 Cell Line	embryonic stem cell
14	chr11:66104800-66110000	Strong transcription	Primary monocytes fromperipheralblood	blood
15	chr11:66104800-66110000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr11:66104800-66110400	Strong transcription	Sigmoid Colon	Sigmoid Colon
17	chr11:66104800-66110800	Strong transcription	Adipose Nuclei	Adipose
18	chr11:66104800-66110800	Strong transcription	Brain Cingulate Gyrus	brain
19	chr11:66104800-66110800	Weak transcription	Psoas Muscle	Psoas
20	chr11:66104800-66111000	Strong transcription	Primary T cells from cord blood	blood
21	chr11:66104800-66111200	Strong transcription	HUES48 Cell Line	embryonic stem cell
22	chr11:66104800-66111200	Strong transcription	Placenta	Placenta
23	chr11:66105000-66109600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
24	chr11:66105000-66109800	Strong transcription	Liver	Liver
25	chr11:66105000-66110000	Strong transcription	H9 Cell Line	embryonic stem cell
26	chr11:66105000-66110000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr11:66105000-66110400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr11:66105000-66110600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr11:66105000-66111000	Strong transcription	Duodenum Mucosa	Duodenum
30	chr11:66105000-66111000	Strong transcription	Monocytes-CD14+_RO01746	blood
31	chr11:66105000-66111200	Strong transcription	Fetal Intestine Small	intestine
32	chr11:66105200-66109800	Strong transcription	iPS-15b Cell Line	embryonic stem cell
33	chr11:66105200-66110000	Strong transcription	Brain Hippocampus Middle	brain
34	chr11:66105200-66110400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
35	chr11:66105200-66110400	Strong transcription	Primary T helper cells fromperipheralblood	blood
36	chr11:66105200-66110600	Strong transcription	Primary B cells from peripheral blood	blood
37	chr11:66105200-66110800	Strong transcription	Primary T cells fromperipheralblood	blood
38	chr11:66105200-66110800	Strong transcription	Brain Germinal Matrix	brain
39	chr11:66105200-66110800	Strong transcription	Fetal Stomach	stomach
40	chr11:66105200-66111000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
41	chr11:66105200-66111000	Strong transcription	Fetal Thymus	thymus
42	chr11:66105200-66111000	Strong transcription	Thymus	Thymus
43	chr11:66105200-66111200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr11:66105400-66109600	Strong transcription	Primary hematopoietic stem cells	blood
45	chr11:66105400-66109600	Strong transcription	Brain Inferior Temporal Lobe	brain
46	chr11:66105400-66110800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
47	chr11:66105400-66110800	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
48	chr11:66105400-66111000	Strong transcription	Spleen	Spleen
49	chr11:66105400-66111600	Weak transcription	HUVEC	blood vessel
50	chr11:66105600-66109600	Strong transcription	Skeletal Muscle Female	skeletal muscle

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