Variant report

Variant	rs4988038
Chromosome Location	chr11:108173295-108173296
allele	A/C
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	PBX3	chr11:108173198-108173526	SK-N-SH	brain:	n/a	n/a
2	EP300	chr11:108173220-108173452	SK-N-SH_RA	brain:	n/a	chr11:108173441-108173451
3	EBF1	chr11:108173236-108173436	GM12878	blood:	n/a	n/a
4	BCL11A	chr11:108173189-108173416	GM12878	blood:	n/a	n/a
5	RFX5	chr11:108173175-108173391	GM12878	blood:	n/a	n/a
6	BCL11A	chr11:108173216-108173417	GM12878	blood:	n/a	n/a
7	PBX3	chr11:108173218-108173419	GM12878	blood:	n/a	n/a
8	FOS	chr11:108173126-108173498	MCF10A-Er-Src	breast:	n/a	n/a
9	EP300	chr11:108173224-108173424	GM12878	blood:	n/a	n/a
10	RUNX3	chr11:108173050-108173469	GM12878	blood:	n/a	n/a
11	FOSL2	chr11:108173203-108173539	SK-N-SH	brain:	n/a	n/a
12	FOS	chr11:108173123-108173471	MCF10A-Er-Src	breast:	n/a	n/a
13	BHLHE40	chr11:108173188-108173386	GM12878	blood:	n/a	n/a
14	CEBPB	chr11:108173171-108173440	IMR90	lung:	n/a	n/a
15	EP300	chr11:108173247-108173396	GM12878	blood:	n/a	n/a
16	PBX3	chr11:108173101-108173450	SK-N-SH	brain:	n/a	n/a
17	FOS	chr11:108173125-108173452	MCF10A-Er-Src	breast:	n/a	n/a
18	BATF	chr11:108173186-108173421	GM12878	blood:	n/a	chr11:108173295-108173306
19	FOS	chr11:108173125-108173471	MCF10A-Er-Src	breast:	n/a	n/a
20	EP300	chr11:108173191-108173415	SK-N-SH_RA	brain:	n/a	n/a
21	BATF	chr11:108173229-108173418	GM12878	blood:	n/a	chr11:108173295-108173306

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:108089572..108092261-chr11:108170855..108173467,2	K562	blood:

Variant related genes	Relation type
ATM	TF binding region

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs3218695	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3218712	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4987885	1.00[AMR][1000 genomes]
rs4987894	1.00[AMR][1000 genomes]
rs4987895	1.00[AMR][1000 genomes]
rs4987914	1.00[AMR][1000 genomes]
rs4987921	1.00[AMR][1000 genomes]
rs4987931	0.84[AFR][1000 genomes]
rs4987937	1.00[AMR][1000 genomes]
rs4987979	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4988003	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4988022	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4988062	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4988073	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4988091	1.00[AMR][1000 genomes]
rs4988102	1.00[AMR][1000 genomes]
rs56135055	1.00[AMR][1000 genomes]
rs61913704	0.84[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv898383	chr11:108068954-108251211	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv556430	chr11:108097333-108175462	Genic enhancers Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
3	nsv898384	chr11:108097333-108251211	Weak transcription Genic enhancers ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	6 gene(s)	inside rSNPs	diseases
4	nsv1052254	chr11:108122683-108845008	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
5	nsv541164	chr11:108122683-108845008	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
6	nsv832262	chr11:108123831-108309350	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases
7	esv1821877	chr11:108158134-108219339	Strong transcription Genic enhancers Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:108094800-108244400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr11:108108400-108184800	Weak transcription	NHEK	skin
3	chr11:108131800-108209600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr11:108137800-108212000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr11:108138400-108209400	Strong transcription	Primary monocytes fromperipheralblood	blood
6	chr11:108139200-108208200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr11:108141200-108181800	Weak transcription	Small Intestine	intestine
8	chr11:108143000-108175800	Weak transcription	Right Ventricle	heart
9	chr11:108143000-108186600	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr11:108143800-108175400	Weak transcription	Fetal Brain Male	brain
11	chr11:108144400-108200800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr11:108145800-108174400	Weak transcription	A549	lung
13	chr11:108145800-108235400	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr11:108147200-108210800	Strong transcription	Monocytes-CD14+_RO01746	blood
15	chr11:108148200-108225600	Weak transcription	Esophagus	oesophagus
16	chr11:108148600-108202600	Weak transcription	Psoas Muscle	Psoas
17	chr11:108148600-108208800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr11:108148600-108225600	Weak transcription	Gastric	stomach
19	chr11:108149200-108208600	Strong transcription	HUES48 Cell Line	embryonic stem cell
20	chr11:108149400-108211200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr11:108149600-108181800	Weak transcription	Aorta	Aorta
22	chr11:108149600-108209000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr11:108149600-108209600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr11:108150200-108208800	Strong transcription	HUES64 Cell Line	embryonic stem cell
25	chr11:108151000-108176400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr11:108151400-108210000	Strong transcription	Primary T helper cells fromperipheralblood	blood
27	chr11:108151600-108188600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
28	chr11:108153200-108181600	Weak transcription	Pancreas	Pancrea
29	chr11:108154000-108181800	Weak transcription	Thymus	Thymus
30	chr11:108154000-108193600	Weak transcription	Colonic Mucosa	Colon
31	chr11:108154600-108186600	Weak transcription	K562	blood
32	chr11:108155800-108173600	Weak transcription	Brain Angular Gyrus	brain
33	chr11:108156000-108174000	Weak transcription	HUVEC	blood vessel
34	chr11:108156000-108175400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr11:108158200-108209800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr11:108158600-108176600	Strong transcription	Primary T helper naive cells from peripheral blood	blood
37	chr11:108159200-108173400	Weak transcription	Brain Germinal Matrix	brain
38	chr11:108160200-108183600	Strong transcription	Liver	Liver
39	chr11:108160200-108212600	Strong transcription	Primary T cells fromperipheralblood	blood
40	chr11:108160400-108211000	Strong transcription	Primary B cells from cord blood	blood
41	chr11:108160600-108180600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
42	chr11:108160800-108178200	Weak transcription	Brain Inferior Temporal Lobe	brain
43	chr11:108160800-108190000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr11:108161000-108209600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
45	chr11:108161200-108210400	Strong transcription	Primary B cells from peripheral blood	blood
46	chr11:108161800-108178400	Weak transcription	Fetal Heart	heart
47	chr11:108162000-108208800	Strong transcription	Dnd41	blood
48	chr11:108162800-108181600	Weak transcription	Fetal Brain Female	brain
49	chr11:108162800-108205800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr11:108162800-108209400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood

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