Variant report

Variant	rs11196753
Chromosome Location	chr10:116232080-116232081
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	USF1	chr10:116232023-116232448	ECC-1	luminal epithelium:	n/a	chr10:116232172-116232183
2	MAX	chr10:116232080-116232614	H1-hESC	embryonic stem cell:	n/a	n/a
3	ZBTB7A	chr10:116232039-116232715	ECC-1	luminal epithelium:	n/a	n/a
4	MAX	chr10:116231964-116232298	H1-hESC	embryonic stem cell:	n/a	n/a
5	NFIC	chr10:116231828-116232979	ECC-1	luminal epithelium:	n/a	n/a
6	TCF12	chr10:116231985-116232593	ECC-1	luminal epithelium:	n/a	n/a
7	USF1	chr10:116231904-116232679	ECC-1	luminal epithelium:	n/a	chr10:116232172-116232183
8	MAX	chr10:116231865-116232879	ECC-1	luminal epithelium:	n/a	n/a
9	MAX	chr10:116231912-116232739	ECC-1	luminal epithelium:	n/a	n/a
10	USF1	chr10:116232034-116232372	H1-hESC	embryonic stem cell:	n/a	chr10:116232172-116232183
11	USF1	chr10:116232008-116232445	H1-hESC	embryonic stem cell:	n/a	chr10:116232172-116232183
12	EP300	chr10:116231823-116233041	ECC-1	luminal epithelium:	n/a	chr10:116232960-116232969 chr10:116232429-116232442
13	TCF12	chr10:116231805-116232786	ECC-1	luminal epithelium:	n/a	n/a
14	MAX	chr10:116232010-116232438	H1-hESC	embryonic stem cell:	n/a	n/a
15	CEBPB	chr10:116231746-116232605	ECC-1	luminal epithelium:	n/a	chr10:116232572-116232580
16	ZBTB7A	chr10:116231542-116232875	ECC-1	luminal epithelium:	n/a	chr10:116231721-116231732
17	USF2	chr10:116232074-116232335	H1-hESC	embryonic stem cell:	n/a	n/a
18	MAX	chr10:116232048-116232442	MCF-7	breast:	n/a	n/a
19	USF1	chr10:116232052-116232257	HepG2	liver:	n/a	chr10:116232172-116232183
20	POLR2A	chr10:116231621-116232355	PANC-1	pancreas:	n/a	n/a
21	NFIC	chr10:116232044-116232797	ECC-1	luminal epithelium:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:116229710..116232429-chr10:116312044..116314451,2	MCF-7	breast:
2	chr10:116230461..116232413-chr10:116308199..116309115,10	MCF-7	breast:

Variant related genes	Relation type
ABLIM1	TF binding region

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11196752	0.85[EUR][1000 genomes]
rs11196766	0.82[AMR][1000 genomes]
rs2475224	0.81[AMR][1000 genomes]
rs2475225	0.81[AMR][1000 genomes]
rs2475227	0.82[AMR][1000 genomes]
rs34374858	0.90[AMR][1000 genomes]
rs7912323	0.91[AMR][1000 genomes]
rs9421175	0.90[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	nsv1037308	chr10:116141946-116519765	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	nsv540780	chr10:116141946-116519765	Enhancers Genic enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:116189800-116232200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr10:116194400-116251600	Weak transcription	Small Intestine	intestine
3	chr10:116199200-116243400	Weak transcription	Brain Hippocampus Middle	brain
4	chr10:116199600-116244600	Weak transcription	A549	lung
5	chr10:116199800-116249200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr10:116200800-116232400	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr10:116201000-116232400	Weak transcription	Colonic Mucosa	Colon
8	chr10:116201000-116242400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr10:116204600-116232400	Weak transcription	Brain Anterior Caudate	brain
10	chr10:116206600-116232400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr10:116207000-116232800	Weak transcription	HUVEC	blood vessel
12	chr10:116209600-116232600	Weak transcription	Brain Substantia Nigra	brain
13	chr10:116211000-116232400	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr10:116211200-116232200	Weak transcription	Fetal Kidney	kidney
15	chr10:116214600-116263600	Weak transcription	Rectal Smooth Muscle	rectum
16	chr10:116218400-116249200	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr10:116220200-116236600	Weak transcription	Colon Smooth Muscle	Colon
18	chr10:116222200-116264400	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr10:116225000-116232200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr10:116225000-116236800	Weak transcription	Stomach Smooth Muscle	stomach
21	chr10:116225000-116267200	Weak transcription	Aorta	Aorta
22	chr10:116225600-116232200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr10:116225600-116232200	Weak transcription	Fetal Lung	lung
24	chr10:116225600-116232200	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr10:116225600-116236600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr10:116225600-116242800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr10:116225600-116246800	Weak transcription	NHEK	skin
28	chr10:116225600-116278800	Weak transcription	HSMM	muscle
29	chr10:116225800-116236800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr10:116226400-116235800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
31	chr10:116227200-116247400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr10:116228000-116236600	Weak transcription	Adipose Nuclei	Adipose
33	chr10:116228200-116232400	Strong transcription	Fetal Stomach	stomach
34	chr10:116229000-116232600	Strong transcription	Fetal Muscle Trunk	muscle
35	chr10:116229400-116240800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
36	chr10:116229400-116244800	Weak transcription	Thymus	Thymus
37	chr10:116229600-116233400	Enhancers	Fetal Intestine Large	intestine
38	chr10:116229800-116232600	Weak transcription	Rectal Mucosa Donor 29	rectum
39	chr10:116229800-116239200	Weak transcription	Duodenum Mucosa	Duodenum
40	chr10:116230000-116234600	Weak transcription	Fetal Heart	heart
41	chr10:116230000-116234800	Weak transcription	Right Ventricle	heart
42	chr10:116230000-116236600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr10:116230000-116240800	Weak transcription	Esophagus	oesophagus
44	chr10:116230000-116243600	Weak transcription	Lung	lung
45	chr10:116230200-116239000	Weak transcription	Gastric	stomach
46	chr10:116230600-116235800	Weak transcription	Right Atrium	heart
47	chr10:116230600-116237000	Weak transcription	Primary B cells from cord blood	blood
48	chr10:116230600-116241800	Weak transcription	HSMMtube	muscle
49	chr10:116230800-116232400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr10:116230800-116232400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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