Variant report

Variant	rs11153451
Chromosome Location	chr6:114194523-114194524
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:67)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:67 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr6:114194109-114194898	HepG2	liver:	n/a	n/a
2	HNF4G	chr6:114194142-114194701	HepG2	liver:	n/a	n/a
3	MTA3	chr6:114194061-114194864	GM12878	blood:	n/a	n/a
4	ELK1	chr6:114194293-114194743	GM12878	blood:	n/a	n/a
5	SPI1	chr6:114194405-114194690	GM12891	blood:	n/a	n/a
6	SPI1	chr6:114194420-114194659	GM12878	blood:	n/a	n/a
7	HDAC2	chr6:114194314-114194731	HepG2	liver:	n/a	n/a
8	ATF2	chr6:114194306-114194665	GM12878	blood:	n/a	n/a
9	TEAD4	chr6:114194181-114194857	HepG2	liver:	n/a	n/a
10	EP300	chr6:114194242-114194868	GM12878	blood:	n/a	n/a
11	POLR2A	chr6:114194205-114194817	HepG2	liver:	n/a	n/a
12	SPI1	chr6:114194238-114194798	HL-60	blood:	n/a	n/a
13	NFIC	chr6:114194291-114194855	HepG2	liver:	n/a	n/a
14	NFIC	chr6:114194247-114194812	GM12878	blood:	n/a	n/a
15	REST	chr6:114194370-114194899	HL-60	blood:	n/a	chr6:114194869-114194889
16	SPI1	chr6:114194296-114194750	GM12891	blood:	n/a	n/a
17	CEBPB	chr6:114194378-114194714	HepG2	liver:	n/a	n/a
18	YY1	chr6:114194293-114194638	HepG2	liver:	n/a	n/a
19	POLR2A	chr6:114194279-114194763	GM12878	blood:	n/a	n/a
20	EBF1	chr6:114194314-114194872	GM12878	blood:	n/a	n/a
21	POLR2A	chr6:114194141-114194752	HL-60	blood:	n/a	n/a
22	SMC3	chr6:114194258-114194729	HepG2	liver:	n/a	n/a
23	YY1	chr6:114194174-114194727	GM12878	blood:	n/a	n/a
24	STAT1	chr6:114194303-114194675	GM12878	blood:	n/a	n/a
25	POLR2A	chr6:114194326-114194808	HepG2	liver:	n/a	n/a
26	EBF1	chr6:114194381-114194719	GM12878	blood:	n/a	n/a
27	ELF1	chr6:114194320-114194765	HepG2	liver:	n/a	n/a
28	EP300	chr6:114194275-114194752	HepG2	liver:	n/a	n/a
29	YY1	chr6:114194230-114194749	HepG2	liver:	n/a	n/a
30	EBF1	chr6:114194321-114194783	GM12878	blood:	n/a	n/a
31	CEBPB	chr6:114194433-114194587	HepG2	liver:	n/a	n/a
32	POLR2A	chr6:114194072-114194760	Raji	blood:	n/a	n/a
33	TAF1	chr6:114194443-114194649	GM12892	blood:	n/a	n/a
34	RCOR1	chr6:114194363-114194663	HepG2	liver:	n/a	n/a
35	SMC3	chr6:114194336-114194783	GM12878	blood:	n/a	n/a
36	TCF12	chr6:114194447-114194634	GM12878	blood:	n/a	n/a
37	RAD21	chr6:114194327-114194821	HepG2	liver:	n/a	n/a
38	HNF4A	chr6:114194266-114194723	HepG2	liver:	n/a	chr6:114194522-114194537
39	CHD2	chr6:114194317-114194837	GM12878	blood:	n/a	n/a
40	PBX3	chr6:114194448-114194651	GM12878	blood:	n/a	n/a
41	MYBL2	chr6:114194130-114194839	HepG2	liver:	n/a	n/a
42	YY1	chr6:114194292-114194666	GM12892	blood:	n/a	n/a
43	POLR2A	chr6:114194313-114194687	HepG2	liver:	n/a	n/a
44	EP300	chr6:114194295-114194980	GM12878	blood:	n/a	n/a
45	SPI1	chr6:114194012-114194786	GM12878	blood:	n/a	n/a
46	POLR2A	chr6:114194450-114194738	ProgFib	skin:	n/a	n/a
47	NFYB	chr6:114194466-114194781	GM12878	blood:	n/a	n/a
48	MXI1	chr6:114194220-114194866	GM12878	blood:	n/a	n/a
49	SPI1	chr6:114194365-114194745	GM12878	blood:	n/a	n/a
50	REST	chr6:114194341-114194703	HepG2	liver:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:114178176..114180807-chr6:114192347..114194542,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-HDAC2-1	chr6:114194159-114194729	XLOC_005811

No data

Variant related genes	Relation type
ENSG00000227502	TF binding region
ENSG00000155130	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10499076	0.93[ASW][hapmap];0.81[MKK][hapmap];0.85[YRI][hapmap]
rs12210945	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12223	0.81[YRI][hapmap]
rs2146178	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2348779	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4945978	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4945980	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs638614	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6920267	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6934011	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7771208	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs922329	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9372383	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9384885	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9387181	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9400677	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9400679	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9488271	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs975257	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1021774	chr6:114063971-114407280	Enhancers Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	nsv538422	chr6:114063971-114407280	Genic enhancers Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
3	esv3363275	chr6:114101331-114302866	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:114181000-114200200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr6:114183200-114196200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr6:114183600-114196400	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr6:114183800-114196200	Weak transcription	NHLF	lung
5	chr6:114183800-114200200	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr6:114183800-114200400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr6:114184000-114200200	Weak transcription	Fetal Kidney	kidney
8	chr6:114184200-114195800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr6:114184200-114196000	Weak transcription	HSMM	muscle
10	chr6:114184200-114196400	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr6:114184400-114196200	Weak transcription	NH-A	brain
12	chr6:114192000-114195800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr6:114192000-114196200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr6:114192600-114195000	Active TSS	Primary hematopoietic stem cells short term culture	blood
15	chr6:114193200-114195000	Active TSS	Duodenum Mucosa	Duodenum
16	chr6:114193200-114195000	Active TSS	Duodenum Smooth Muscle	Duodenum
17	chr6:114193200-114195000	Active TSS	Fetal Intestine Large	intestine
18	chr6:114193200-114195000	Active TSS	Fetal Intestine Small	intestine
19	chr6:114193200-114195200	Active TSS	Rectal Mucosa Donor 29	rectum
20	chr6:114193400-114194600	Enhancers	Primary monocytes fromperipheralblood	blood
21	chr6:114193400-114195000	Active TSS	Rectal Mucosa Donor 31	rectum
22	chr6:114193400-114195000	Active TSS	Osteobl	bone
23	chr6:114193400-114196200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr6:114193600-114194600	Weak transcription	NHDF-Ad	bronchial
25	chr6:114193600-114194800	Active TSS	HepG2	liver
26	chr6:114194000-114194800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
27	chr6:114194000-114194800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr6:114194000-114194800	Active TSS	Colonic Mucosa	Colon
29	chr6:114194000-114195000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr6:114194000-114195000	Active TSS	A549	lung
31	chr6:114194000-114195000	Flanking Active TSS	Dnd41	blood
32	chr6:114194200-114194600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
33	chr6:114194200-114194600	Flanking Active TSS	Primary hematopoietic stem cells	blood
34	chr6:114194200-114194600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr6:114194200-114194600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
36	chr6:114194200-114194600	Active TSS	Brain Substantia Nigra	brain
37	chr6:114194200-114194600	Enhancers	Fetal Lung	lung
38	chr6:114194200-114194600	Active TSS	Gastric	stomach
39	chr6:114194200-114194600	Active TSS	Lung	lung
40	chr6:114194200-114194600	Flanking Active TSS	Pancreas	Pancrea
41	chr6:114194200-114194600	Enhancers	Thymus	Thymus
42	chr6:114194200-114194800	Flanking Active TSS	Primary B cells from cord blood	blood
43	chr6:114194200-114194800	Flanking Active TSS	Primary B cells from peripheral blood	blood
44	chr6:114194200-114194800	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
45	chr6:114194200-114194800	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
46	chr6:114194200-114194800	Active TSS	Brain Cingulate Gyrus	brain
47	chr6:114194200-114194800	Active TSS	Brain Hippocampus Middle	brain
48	chr6:114194200-114194800	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
49	chr6:114194200-114194800	Flanking Active TSS	Fetal Thymus	thymus
50	chr6:114194200-114194800	Active TSS	Rectal Smooth Muscle	rectum

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