Variant report

Variant	rs72936525
Chromosome Location	chr11:68276385-68276386
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	EP300	chr11:68275962-68277175	SK-N-SH	brain:	n/a	chr11:68276391-68276405 chr11:68276219-68276233
2	GATA3	chr11:68276383-68277128	SK-N-SH	brain:	n/a	chr11:68276484-68276491 chr11:68276393-68276403 chr11:68276437-68276447
3	MYC	chr11:68276314-68276703	H1-hESC	embryonic stem cell:	n/a	chr11:68276682-68276691
4	TCF12	chr11:68276318-68277110	SK-N-SH	brain:	n/a	n/a
5	TCF12	chr11:68276315-68277173	SK-N-SH	brain:	n/a	n/a
6	IRF1	chr11:68276030-68276433	K562	blood:	n/a	chr11:68276363-68276372
7	IRF1	chr11:68276128-68276512	K562	blood:	n/a	chr11:68276363-68276372

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:68274527..68278088-chr11:68291601..68295051,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000222339	TF binding region
ENSG00000212093	TF binding region

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs11228274	0.90[EUR][1000 genomes]
rs12146506	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7115050	0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv897858	chr11:68077238-68293545	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
2	nsv897860	chr11:68102000-68293545	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv1036561	chr11:68123135-68315685	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	esv1792339	chr11:68199008-68299226	Enhancers Weak transcription Genic enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
5	esv1803199	chr11:68199008-68299226	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
6	esv1842405	chr11:68199008-68299226	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:68238600-68287800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr11:68256600-68287200	Weak transcription	NHEK	skin
3	chr11:68261600-68278000	Enhancers	Primary T helper cells fromperipheralblood	blood
4	chr11:68262200-68277000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
5	chr11:68265200-68302600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr11:68265600-68280000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr11:68266200-68277600	Weak transcription	HMEC	breast
8	chr11:68266200-68279000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr11:68266400-68278400	Enhancers	Rectal Smooth Muscle	rectum
10	chr11:68267000-68278200	Weak transcription	Hela-S3	cervix
11	chr11:68267000-68280000	Weak transcription	Thymus	Thymus
12	chr11:68267200-68283000	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr11:68267200-68287800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr11:68267400-68276400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr11:68267400-68287000	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr11:68268000-68279400	Weak transcription	Primary monocytes fromperipheralblood	blood
17	chr11:68268600-68277800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr11:68268600-68290800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr11:68268600-68303800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr11:68270600-68276400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr11:68270600-68276800	Enhancers	Adipose Nuclei	Adipose
22	chr11:68271000-68277000	Enhancers	Osteobl	bone
23	chr11:68271000-68294600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr11:68271200-68279600	Weak transcription	Placenta	Placenta
25	chr11:68271200-68280400	Weak transcription	Fetal Intestine Large	intestine
26	chr11:68271200-68281600	Weak transcription	Fetal Stomach	stomach
27	chr11:68271200-68287400	Weak transcription	Spleen	Spleen
28	chr11:68271200-68287600	Weak transcription	Colonic Mucosa	Colon
29	chr11:68271200-68289000	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr11:68271600-68277600	Weak transcription	Dnd41	blood
31	chr11:68271600-68280000	Weak transcription	Fetal Muscle Trunk	muscle
32	chr11:68271600-68280400	Weak transcription	Fetal Muscle Leg	muscle
33	chr11:68271600-68280400	Weak transcription	Lung	lung
34	chr11:68271600-68280400	Weak transcription	HUVEC	blood vessel
35	chr11:68271600-68280800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr11:68271600-68287200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr11:68271600-68287200	Weak transcription	Brain Germinal Matrix	brain
38	chr11:68272200-68283000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr11:68272400-68280200	Weak transcription	Gastric	stomach
40	chr11:68272400-68280400	Weak transcription	Pancreas	Pancrea
41	chr11:68272400-68287200	Weak transcription	Esophagus	oesophagus
42	chr11:68272400-68287800	Weak transcription	Aorta	Aorta
43	chr11:68272400-68289400	Weak transcription	NHLF	lung
44	chr11:68272400-68291000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
45	chr11:68272600-68284200	Weak transcription	A549	lung
46	chr11:68272800-68280400	Weak transcription	Liver	Liver
47	chr11:68273400-68276800	Enhancers	Primary T killer memory cells from peripheral blood	blood
48	chr11:68273400-68277000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr11:68273600-68276400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr11:68273600-68276600	Weak transcription	Ovary	ovary

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