Variant report

Variant	rs7114949
Chromosome Location	chr11:16632703-16632704
allele	A/T
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	E2F6	chr11:16632105-16632939	H1-hESC	embryonic stem cell:	n/a	chr11:16632272-16632281 chr11:16632713-16632720
2	TCF12	chr11:16632531-16632788	H1-hESC	embryonic stem cell:	n/a	n/a
3	SUZ12	chr11:16631604-16635872	NT2-D1	testis:	n/a	n/a
4	MAX	chr11:16632048-16632761	H1-hESC	embryonic stem cell:	n/a	chr11:16632503-16632512 chr11:16632259-16632268 chr11:16632254-16632273 chr11:16632257-16632270
5	MAX	chr11:16632105-16632802	H1-hESC	embryonic stem cell:	n/a	chr11:16632503-16632512 chr11:16632259-16632268 chr11:16632254-16632273 chr11:16632257-16632270
6	CTBP2	chr11:16631947-16632772	H1-hESC	embryonic stem cell:	n/a	n/a
7	MAX	chr11:16632102-16632847	H1-hESC	embryonic stem cell:	n/a	chr11:16632503-16632512 chr11:16632259-16632268 chr11:16632254-16632273 chr11:16632257-16632270
8	SUZ12	chr11:16631338-16633859	H1-hESC	embryonic stem cell:	n/a	n/a
9	E2F6	chr11:16632381-16632884	H1-hESC	embryonic stem cell:	n/a	chr11:16632713-16632720

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

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

Extended variants
information (count: 15 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs6486292	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7103077	1.00[AMR][1000 genomes]
rs73417112	1.00[AMR][1000 genomes]
rs73417116	1.00[AMR][1000 genomes]
rs73417126	1.00[AMR][1000 genomes]
rs73417127	1.00[AMR][1000 genomes]
rs73417195	1.00[AMR][1000 genomes]
rs73417201	1.00[AMR][1000 genomes]
rs73435536	1.00[AMR][1000 genomes]
rs73435553	1.00[AMR][1000 genomes]
rs73435556	1.00[AMR][1000 genomes]
rs7927489	1.00[AMR][1000 genomes]
rs7937336	1.00[AMR][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:38 , 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	chr11:16631400-16632800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
11	chr11:16631800-16632800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
12	chr11:16631800-16633400	Bivalent Enhancer	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr11:16631800-16633800	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
14	chr11:16631800-16635000	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
15	chr11:16632200-16632800	Bivalent Enhancer	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr11:16632200-16633600	Bivalent/Poised TSS	Brain Germinal Matrix	brain
17	chr11:16632400-16632800	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr11:16632400-16632800	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
19	chr11:16632400-16632800	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
20	chr11:16632400-16632800	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr11:16632400-16632800	Flanking Bivalent TSS/Enh	Fetal Brain Female	brain
22	chr11:16632400-16632800	Flanking Bivalent TSS/Enh	Fetal Intestine Large	intestine
23	chr11:16632400-16632800	Bivalent Enhancer	Fetal Thymus	thymus
24	chr11:16632400-16633000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr11:16632400-16633600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
26	chr11:16632600-16632800	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
27	chr11:16632600-16632800	Bivalent Enhancer	Brain Substantia Nigra	brain
28	chr11:16632600-16632800	Bivalent Enhancer	Colonic Mucosa	Colon
29	chr11:16632600-16632800	Bivalent Enhancer	Duodenum Mucosa	Duodenum
30	chr11:16632600-16633000	Bivalent Enhancer	Fetal Muscle Leg	muscle
31	chr11:16632600-16633400	Bivalent Enhancer	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr11:16632600-16633400	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr11:16632600-16633400	Flanking Bivalent TSS/Enh	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr11:16632600-16633400	Bivalent Enhancer	Fetal Intestine Small	intestine
35	chr11:16632600-16634200	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr11:16632600-16634200	Bivalent Enhancer	Fetal Lung	lung
37	chr11:16632600-16634400	Bivalent Enhancer	Liver	Liver
38	chr11:16632600-16635000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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