Variant report

Variant	rs41556122
Chromosome Location	chr11:65046145-65046146
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:7)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
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	TEAD4	chr11:65045786-65046331	SK-N-SH	brain:	n/a	n/a
2	GATA3	chr11:65045674-65046352	SK-N-SH	brain:	n/a	n/a
3	TEAD4	chr11:65045893-65046225	ECC-1	luminal epithelium:	n/a	n/a
4	TCF12	chr11:65045668-65046405	SK-N-SH	brain:	n/a	n/a
5	PBX3	chr11:65045857-65046289	SK-N-SH	brain:	n/a	n/a
6	TCF12	chr11:65045709-65046372	SK-N-SH	brain:	n/a	n/a
7	PBX3	chr11:65045702-65046353	SK-N-SH	brain:	n/a	n/a

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:65045775..65048085-chr11:65080584..65082394,3	K562	blood:
2	chr11:65045537..65047496-chr11:65048160..65049775,2	K562	blood:
3	chr11:65045088..65048799-chr11:65081591..65084821,5	MCF-7	breast:
4	chr11:65044749..65047601-chr11:65075341..65077443,2	K562	blood:
5	chr11:65046026..65048425-chr11:65053292..65055276,2	K562	blood:
6	chr11:65045328..65049022-chr11:65119140..65122878,4	MCF-7	breast:
7	chr11:65045586..65047170-chr11:65078296..65080185,2	MCF-7	breast:
8	chr11:65045374..65047604-chr11:65109962..65112215,2	MCF-7	breast:
9	chr11:65045097..65047406-chr11:65195158..65197268,2	K562	blood:
10	chr11:65028819..65033300-chr11:65042859..65047253,5	MCF-7	breast:

No data

Variant related genes	Relation type
POLA2	TF binding region
ENSG00000133884	Chromatin interaction
ENSG00000149798	Chromatin interaction
ENSG00000173825	Chromatin interaction
ENSG00000014138	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs11819804	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11821423	1.00[AMR][1000 genomes]
rs11821851	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11823327	1.00[AMR][1000 genomes]
rs11824738	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11824827	1.00[AMR][1000 genomes]
rs11826426	1.00[AMR][1000 genomes]
rs11826954	1.00[AMR][1000 genomes]
rs34286323	1.00[AMR][1000 genomes]
rs35225270	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs41544519	0.85[AFR][1000 genomes]
rs58771438	1.00[AMR][1000 genomes]
rs7107815	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7108941	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7114046	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7121464	1.00[AMR][1000 genomes]
rs7123885	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73484944	1.00[AMR][1000 genomes]
rs73484972	1.00[AMR][1000 genomes]
rs7926687	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv526181	chr11:64638041-65257329	Flanking Active TSS Enhancers Strong transcription Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1539 gene(s)	inside rSNPs	diseases
2	nsv832190	chr11:64978144-65127613	Flanking Active TSS Weak transcription Enhancers Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Active TSS 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	48 gene(s)	inside rSNPs	diseases
3	nsv976461	chr11:65000821-65054446	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
4	esv2422285	chr11:65013294-65254540	Genic enhancers Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	474 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:65030200-65058800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr11:65030600-65046200	Weak transcription	Gastric	stomach
3	chr11:65030600-65047800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr11:65030600-65048200	Weak transcription	Aorta	Aorta
5	chr11:65030600-65049400	Weak transcription	Right Ventricle	heart
6	chr11:65030600-65056800	Weak transcription	Right Atrium	heart
7	chr11:65030600-65058000	Weak transcription	Fetal Brain Male	brain
8	chr11:65030600-65058800	Weak transcription	Psoas Muscle	Psoas
9	chr11:65031000-65046200	Weak transcription	Small Intestine	intestine
10	chr11:65031000-65046400	Weak transcription	Lung	lung
11	chr11:65031000-65049800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr11:65031200-65064800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr11:65031800-65058000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
14	chr11:65038200-65047000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
15	chr11:65038400-65046200	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr11:65038400-65046400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr11:65038600-65046200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr11:65038600-65046200	Weak transcription	Brain Germinal Matrix	brain
19	chr11:65038600-65046200	Weak transcription	Esophagus	oesophagus
20	chr11:65038600-65048400	Weak transcription	Left Ventricle	heart
21	chr11:65038800-65046200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
22	chr11:65038800-65046800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr11:65039000-65046400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr11:65040000-65047600	Weak transcription	Spleen	Spleen
25	chr11:65040000-65048200	Weak transcription	Ovary	ovary
26	chr11:65040000-65049000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr11:65042200-65046200	Enhancers	Fetal Intestine Large	intestine
28	chr11:65042400-65068800	Strong transcription	Fetal Thymus	thymus
29	chr11:65042800-65059000	Strong transcription	HUES48 Cell Line	embryonic stem cell
30	chr11:65042800-65065000	Strong transcription	Primary T cells from cord blood	blood
31	chr11:65042800-65072800	Strong transcription	Dnd41	blood
32	chr11:65043000-65047200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr11:65043000-65048000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr11:65043000-65048200	Weak transcription	Skeletal Muscle Female	skeletal muscle
35	chr11:65043000-65066200	Strong transcription	H9 Cell Line	embryonic stem cell
36	chr11:65043000-65067600	Strong transcription	HUES6 Cell Line	embryonic stem cell
37	chr11:65043200-65046200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr11:65043200-65046200	Weak transcription	Skeletal Muscle Male	skeletal muscle
39	chr11:65043200-65046200	Weak transcription	NHEK	skin
40	chr11:65043200-65047200	Weak transcription	Brain Anterior Caudate	brain
41	chr11:65043200-65048400	Weak transcription	Colonic Mucosa	Colon
42	chr11:65043200-65066400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
43	chr11:65043200-65066600	Strong transcription	Primary T helper cells fromperipheralblood	blood
44	chr11:65043400-65047000	Strong transcription	Monocytes-CD14+_RO01746	blood
45	chr11:65043400-65047200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
46	chr11:65043400-65048000	Weak transcription	Brain Substantia Nigra	brain
47	chr11:65043400-65048200	Strong transcription	Fetal Muscle Trunk	muscle
48	chr11:65043400-65049600	Weak transcription	Brain Angular Gyrus	brain
49	chr11:65043400-65056000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr11:65043400-65056000	Weak transcription	Fetal Heart	heart

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