Variant report

Variant	rs73416044
Chromosome Location	chr11:9159775-9159776
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:36)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:36 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:9157947-9160285	K562	blood:	n/a	n/a
2	CTCF	chr11:9159742-9159858	GM12892	blood:	n/a	n/a
3	SMC3	chr11:9158360-9159884	SK-N-SH	brain:	n/a	n/a
4	POLR2A	chr11:9159248-9160216	HepG2	liver:	n/a	n/a
5	CTCF	chr11:9159760-9159910	GM12864	blood:	n/a	n/a
6	CTCF	chr11:9159760-9159910	HA-sp	spinal cord:	n/a	n/a
7	POLR2A	chr11:9159056-9161161	PANC-1	pancreas:	n/a	n/a
8	CTCF	chr11:9159078-9160114	A549	lung:	n/a	n/a
9	TCF12	chr11:9159525-9161083	ECC-1	luminal epithelium:	n/a	chr11:9160011-9160018
10	RAD21	chr11:9159084-9159789	HCT-116	colon:	n/a	n/a
11	STAT5A	chr11:9159124-9159797	GM12878	blood:	n/a	n/a
12	FOXA2	chr11:9159278-9159881	A549	lung:	n/a	n/a
13	CTCF	chr11:9159750-9159819	GM19239	blood:	n/a	n/a
14	CTCF	chr11:9159740-9159890	SAEC	small airway:	n/a	n/a
15	POLR2A	chr11:9159180-9159839	K562	blood:	n/a	n/a
16	RAD21	chr11:9159038-9159854	HCT-116	colon:	n/a	n/a
17	CTCF	chr11:9159720-9159870	HUVEC	blood vessel:	n/a	n/a
18	POLR2A	chr11:9159522-9159888	HepG2	liver:	n/a	n/a
19	CTCF	chr11:9159700-9159850	GM12869	blood:	n/a	n/a
20	RAD21	chr11:9159078-9159824	A549	lung:	n/a	n/a
21	EP300	chr11:9159385-9161084	ECC-1	luminal epithelium:	n/a	n/a
22	CTCF	chr11:9159735-9159851	K562	blood:	n/a	n/a
23	POLR2A	chr11:9159775-9160331	K562	blood:	n/a	n/a
24	RAD21	chr11:9158955-9159874	SK-N-SH	brain:	n/a	n/a
25	POLR2A	chr11:9159767-9159867	K562	blood:	n/a	n/a
26	CTCF	chr11:9159016-9159909	SK-N-SH	brain:	n/a	n/a
27	FOXA1	chr11:9159617-9159869	T-47D	breast:	n/a	n/a
28	POLR2A	chr11:9159218-9159856	PFSK-1	brain:	n/a	n/a
29	CTCF	chr11:9159188-9159830	HCT-116	colon:	n/a	n/a
30	CTCF	chr11:9159680-9159830	MCF-7	breast:	n/a	n/a
31	CTCF	chr11:9159771-9159799	HUVEC	blood vessel:	n/a	n/a
32	CTCF	chr11:9159741-9159843	GM19238	blood:	n/a	n/a
33	CTCF	chr11:9159767-9159805	NHEK	skin:	n/a	n/a
34	MTA3	chr11:9158927-9159782	GM12878	blood:	n/a	n/a
35	RAD21	chr11:9159122-9159800	MCF-7	breast:	n/a	n/a
36	CTCF	chr11:9159760-9159910	GM12871	blood:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:9108004..9116385-chr11:9156452..9162678,21	MCF-7	breast:
2	chr11:9109700..9116224-chr11:9155740..9163743,14	MCF-7	breast:
3	chr11:8983863..8986997-chr11:9158044..9162292,6	MCF-7	breast:
4	chr11:9041862..9044730-chr11:9157486..9160225,2	MCF-7	breast:

No data

Variant related genes	Relation type
SCUBE2	TF binding region
ENSG00000264984	Chromatin interaction
ENSG00000254860	Chromatin interaction
ENSG00000213538	Chromatin interaction
ENSG00000175348	Chromatin interaction
ENSG00000175356	Chromatin interaction

Extended variants
information (count: 64 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs10743100	1.00[EUR][1000 genomes]
rs10743102	1.00[EUR][1000 genomes]
rs10743103	1.00[EUR][1000 genomes]
rs10840197	1.00[EUR][1000 genomes]
rs10840198	1.00[EUR][1000 genomes]
rs11042254	1.00[EUR][1000 genomes]
rs12225143	1.00[EUR][1000 genomes]
rs1809855	1.00[EUR][1000 genomes]
rs1874821	1.00[EUR][1000 genomes]
rs2016375	1.00[EUR][1000 genomes]
rs4243946	1.00[EUR][1000 genomes]
rs4331093	1.00[EUR][1000 genomes]
rs4420271	1.00[EUR][1000 genomes]
rs4450172	1.00[EUR][1000 genomes]
rs4589301	1.00[EUR][1000 genomes]
rs4601780	1.00[EUR][1000 genomes]
rs4625467	1.00[EUR][1000 genomes]
rs4644643	1.00[EUR][1000 genomes]
rs4910448	1.00[EUR][1000 genomes]
rs56306422	1.00[EUR][1000 genomes]
rs57052969	1.00[EUR][1000 genomes]
rs57655359	1.00[EUR][1000 genomes]
rs58309260	1.00[EUR][1000 genomes]
rs58361373	1.00[EUR][1000 genomes]
rs58795427	1.00[EUR][1000 genomes]
rs59398820	1.00[EUR][1000 genomes]
rs59400072	1.00[EUR][1000 genomes]
rs59618374	1.00[EUR][1000 genomes]
rs59984721	1.00[EUR][1000 genomes]
rs60542289	1.00[EUR][1000 genomes]
rs60602151	1.00[EUR][1000 genomes]
rs60731772	1.00[EUR][1000 genomes]
rs60960132	1.00[EUR][1000 genomes]
rs61217844	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61379640	1.00[EUR][1000 genomes]
rs61409427	1.00[EUR][1000 genomes]
rs6486149	1.00[EUR][1000 genomes]
rs7119158	1.00[EUR][1000 genomes]
rs7119887	1.00[EUR][1000 genomes]
rs73402319	1.00[EUR][1000 genomes]
rs73402323	1.00[EUR][1000 genomes]
rs73402339	1.00[EUR][1000 genomes]
rs73402344	1.00[EUR][1000 genomes]
rs73402346	1.00[EUR][1000 genomes]
rs73402362	1.00[EUR][1000 genomes]
rs73402399	1.00[EUR][1000 genomes]
rs73404303	1.00[EUR][1000 genomes]
rs73404305	1.00[EUR][1000 genomes]
rs73412019	1.00[EUR][1000 genomes]
rs73412032	1.00[EUR][1000 genomes]
rs73416046	1.00[EUR][1000 genomes]
rs73416057	1.00[EUR][1000 genomes]
rs7931491	1.00[EUR][1000 genomes]
rs7932136	1.00[EUR][1000 genomes]
rs7932954	1.00[EUR][1000 genomes]
rs7935518	1.00[EUR][1000 genomes]
rs7942119	1.00[EUR][1000 genomes]
rs7944130	1.00[EUR][1000 genomes]
rs7944713	1.00[EUR][1000 genomes]
rs7948651	1.00[EUR][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	esv3413845	chr11:8887279-9285127	Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	esv33264	chr11:9007612-9311131	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv1040049	chr11:9152536-9363488	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
4	nsv526778	chr11:9159739-9185077	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region	7 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	chr11:9113600-9159800	Weak transcription	Right Ventricle	heart
2	chr11:9134800-9161200	Weak transcription	Fetal Brain Male	brain
3	chr11:9142400-9163000	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr11:9142600-9175000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr11:9143400-9161200	Weak transcription	Aorta	Aorta
6	chr11:9144400-9161200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr11:9150600-9160000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr11:9151800-9160800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr11:9151800-9175800	Strong transcription	Fetal Muscle Trunk	muscle
10	chr11:9152000-9159800	Weak transcription	Liver	Liver
11	chr11:9152200-9160600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr11:9152600-9160200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr11:9152800-9175800	Strong transcription	Fetal Muscle Leg	muscle
14	chr11:9153000-9160200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr11:9153000-9179800	Strong transcription	Monocytes-CD14+_RO01746	blood
16	chr11:9153600-9160600	Weak transcription	Colon Smooth Muscle	Colon
17	chr11:9153600-9164400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
18	chr11:9154200-9160000	Weak transcription	Left Ventricle	heart
19	chr11:9154600-9160000	Strong transcription	HSMM	muscle
20	chr11:9154600-9160600	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr11:9155000-9163000	Weak transcription	Psoas Muscle	Psoas
22	chr11:9155000-9203400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr11:9155600-9161200	Weak transcription	Fetal Kidney	kidney
24	chr11:9156000-9163000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr11:9156800-9167200	Strong transcription	Placenta	Placenta
26	chr11:9157000-9160000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr11:9157000-9180000	Strong transcription	Primary monocytes fromperipheralblood	blood
28	chr11:9157200-9159800	Strong transcription	NHLF	lung
29	chr11:9157400-9160800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr11:9158000-9183200	Strong transcription	Primary neutrophils fromperipheralblood	blood
31	chr11:9158400-9159800	Genic enhancers	Brain Cingulate Gyrus	brain
32	chr11:9158400-9160200	Strong transcription	HSMMtube	muscle
33	chr11:9158400-9160800	Enhancers	Pancreas	Pancrea
34	chr11:9158400-9161000	Enhancers	Gastric	stomach
35	chr11:9158400-9164600	Strong transcription	GM12878-XiMat	blood
36	chr11:9158600-9160200	Strong transcription	Fetal Stomach	stomach
37	chr11:9158600-9165600	Strong transcription	Primary hematopoietic stem cells	blood
38	chr11:9158800-9159800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
39	chr11:9158800-9160000	Genic enhancers	Brain Angular Gyrus	brain
40	chr11:9158800-9160800	Enhancers	Colonic Mucosa	Colon
41	chr11:9158800-9161200	Enhancers	Stomach Mucosa	stomach
42	chr11:9158800-9161800	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr11:9158800-9162400	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
44	chr11:9158800-9162400	Genic enhancers	A549	lung
45	chr11:9158800-9162600	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr11:9158800-9165000	Strong transcription	Fetal Brain Female	brain
47	chr11:9158800-9166400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
48	chr11:9158800-9166600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr11:9159000-9159800	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr11:9159000-9159800	Genic enhancers	Adipose Nuclei	Adipose

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