Variant report

Variant	rs34097789
Chromosome Location	chr11:16631969-16631970
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:61)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SUZ12	chr11:16631604-16635872	NT2-D1	testis:	n/a	n/a
2	CTBP2	chr11:16631947-16632772	H1-hESC	embryonic stem cell:	n/a	n/a
3	SUZ12	chr11:16631338-16633859	H1-hESC	embryonic stem cell:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:16631939-16631989	Hela-S3	cervix:	n/a
2	chr11:16631939-16631989	CMK	blood:	n/a
3	chr11:16631939-16631989	GM12891	blood:	n/a
4	chr11:16631939-16631989	HEEpiC	esophagus:	n/a
5	chr11:16631939-16631989	NHBE	bronchial:	n/a
6	chr11:16631939-16631989	SAEC	small airway:	n/a
7	chr11:16631939-16631989	SKMC	muscle:	n/a
8	chr11:16631939-16631989	GM12878	blood:	n/a
9	chr11:16631939-16631989	HIPEpiC	eye:	n/a
10	chr11:16631939-16631989	AG09319	gingival:	n/a
11	chr11:16631939-16631989	AoSMC	blood vessel:	n/a
12	chr11:16631939-16631989	PANC-1	pancreas:	n/a
13	chr11:16631939-16631989	PrEC	prostate:	n/a
14	chr11:16631939-16631989	HCPEpiC	choroid plexus:	n/a
15	chr11:16631939-16631989	K562	blood:	n/a
16	chr11:16631939-16631989	HRE	kidney:	n/a
17	chr11:16631939-16631989	MCF10A-Er-Src	breast:	n/a
18	chr11:16631939-16631989	HUVEC	blood vessel:	n/a
19	chr11:16631939-16631989	NHDF-neo	bronchial:	n/a
20	chr11:16631939-16631989	HepG2	liver:	n/a
21	chr11:16631939-16631989	GM19239	blood:	n/a
22	chr11:16631939-16631989	Caco-2	colon:	n/a
23	chr11:16631939-16631989	SK-N-SH_RA	brain:	n/a
24	chr11:16631939-16631989	BJ	skin:	n/a
25	chr11:16631939-16631989	ProgFib	skin:	n/a
26	chr11:16631939-16631989	HEK293	kidney:	embryo
27	chr11:16631939-16631989	AG10803	skin:	n/a
28	chr11:16631939-16631989	HRPEpiC	eye:	n/a
29	chr11:16631939-16631989	U87	brain:	n/a
30	chr11:16631939-16631989	SK-N-SH	brain:	n/a
31	chr11:16631939-16631989	ovcar-3	ovarian:	n/a
32	chr11:16631939-16631989	HMEC	breast:	n/a
33	chr11:16631939-16631989	HCT-116	colon:	n/a
34	chr11:16631939-16631989	NH-A	brain:	n/a
35	chr11:16631939-16631989	AG09309	skin:	n/a
36	chr11:16631939-16631989	Hepatocyte	liver:	n/a
37	chr11:16631939-16631989	NT2-D1	testis:	n/a
38	chr11:16631939-16631989	HCM	heart:	n/a
39	chr11:16631939-16631989	HL-60	blood:	n/a
40	chr11:16631939-16631989	MCF-7	breast:	n/a
41	chr11:16631939-16631989	HNPCEpiC	eye:	n/a
42	chr11:16631939-16631989	LNCaP	prostate:	n/a
43	chr11:16631939-16631989	HPAEpiC	pulmonary alveolar:	n/a
44	chr11:16631939-16631989	A549	lung:	n/a
45	chr11:16631939-16631989	BE2_C	brain:	n/a
46	chr11:16631939-16631989	HCF	heart:	n/a
47	chr11:16631939-16631989	H1-hESC	embryonic stem cell:	embryo
48	chr11:16631939-16631989	HAEpiC	amniotic membrane:	n/a
49	chr11:16631939-16631989	GM06990	blood:	n/a
50	chr11:16631939-16631989	ECC-1	luminal epithelium:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:16630638..16632254-chr11:16638335..16640512,2	K562	blood:
2	chr11:16594124..16596937-chr11:16631797..16633860,2	K562	blood:

No data

Variant related genes	Relation type
C11orf58	TF binding region
SOX6	TF binding region
SOX6	CpG island
C11orf58	CpG island

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10734249	0.84[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs10741708	0.85[EUR][1000 genomes]
rs12791781	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12793714	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12794768	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12799800	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12799969	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12800576	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12804277	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1501451	0.93[EUR][1000 genomes]
rs1846936	0.89[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs1967192	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1995343	0.89[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs2221243	0.81[EUR][1000 genomes]
rs34168776	0.86[ASN][1000 genomes]
rs34241215	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34391086	0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs34793179	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34812104	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35199438	1.00[ASN][1000 genomes]
rs35359042	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35384953	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35563581	0.82[ASN][1000 genomes]
rs35925952	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs36141792	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3802963	0.89[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs3921675	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4756860	0.84[EUR][1000 genomes]
rs4756862	0.93[EUR][1000 genomes]
rs4757428	0.81[EUR][1000 genomes]
rs57897281	0.81[ASN][1000 genomes]
rs60406205	0.80[ASN][1000 genomes]
rs6486310	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6486312	0.85[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs66601782	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs66670205	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7110136	0.85[EUR][1000 genomes]
rs7117140	0.93[EUR][1000 genomes]
rs7125262	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7128484	0.94[EUR][1000 genomes]
rs7939889	0.86[EUR][1000 genomes]
rs7944906	0.89[AFR][1000 genomes];0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv553566	chr11:16329009-16799044	Strong transcription Weak transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
2	nsv897016	chr11:16455794-16691743	Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:16629800-16634200	Weak transcription	Pancreas	Pancrea
2	chr11:16630000-16633200	Weak transcription	Right Atrium	heart
3	chr11:16630000-16633600	Weak transcription	Left Ventricle	heart
4	chr11:16630000-16633600	Weak transcription	Right Ventricle	heart
5	chr11:16630000-16634200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr11:16630000-16634200	Weak transcription	Psoas Muscle	Psoas
7	chr11:16630000-16634400	Weak transcription	K562	blood
8	chr11:16630600-16633200	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr11:16630600-16633800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
10	chr11:16631000-16632200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr11:16631200-16632200	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr11:16631400-16632800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
13	chr11:16631600-16632000	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr11:16631600-16632200	Active TSS	Brain Germinal Matrix	brain
15	chr11:16631600-16632400	Bivalent/Poised TSS	Fetal Brain Female	brain
16	chr11:16631800-16632000	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
17	chr11:16631800-16632400	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
18	chr11:16631800-16632800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
19	chr11:16631800-16633400	Bivalent Enhancer	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr11:16631800-16633800	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
21	chr11:16631800-16635000	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell

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