Variant report

Variant	rs2497703
Chromosome Location	chr10:116264702-116264703
allele	C/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	ESR1	chr10:116264633-116265388	ECC-1	luminal epithelium:	n/a	n/a
2	TCF12	chr10:116264359-116265569	ECC-1	luminal epithelium:	n/a	chr10:116265140-116265148 chr10:116265221-116265231 chr10:116265220-116265227
3	POLR2A	chr10:116264684-116265628	HUVEC	blood vessel:	n/a	n/a
4	FOS	chr10:116264566-116265394	MCF10A-Er-Src	breast:	n/a	chr10:116264687-116264695 chr10:116264688-116264695 chr10:116264683-116264694 chr10:116265123-116265134
5	TCF12	chr10:116264445-116265712	ECC-1	luminal epithelium:	n/a	chr10:116265140-116265148 chr10:116265221-116265231 chr10:116265220-116265227
6	EP300	chr10:116264336-116265914	ECC-1	luminal epithelium:	n/a	n/a
7	CEBPB	chr10:116264661-116265296	HepG2	liver:	n/a	chr10:116264716-116264733 chr10:116264719-116264732
8	USF2	chr10:116264548-116265271	Hela-S3	cervix:	n/a	n/a
9	NFIC	chr10:116264479-116265714	ECC-1	luminal epithelium:	n/a	n/a
10	CEBPB	chr10:116264561-116265433	IMR90	lung:	n/a	chr10:116264716-116264733 chr10:116264719-116264732
11	MAX	chr10:116264633-116265534	ECC-1	luminal epithelium:	n/a	n/a
12	TEAD4	chr10:116264320-116265726	ECC-1	luminal epithelium:	n/a	chr10:116264831-116264840
13	TEAD4	chr10:116264436-116266032	ECC-1	luminal epithelium:	n/a	chr10:116264831-116264840
14	ESR1	chr10:116264545-116265525	ECC-1	luminal epithelium:	n/a	n/a
15	ESR1	chr10:116264436-116265440	ECC-1	luminal epithelium:	n/a	n/a
16	FOXM1	chr10:116264460-116265727	ECC-1	luminal epithelium:	n/a	n/a
17	RCOR1	chr10:116264615-116265417	IMR90	lung:	n/a	n/a
18	RCOR1	chr10:116264668-116265392	Hela-S3	cervix:	n/a	n/a
19	FOXM1	chr10:116264427-116265780	ECC-1	luminal epithelium:	n/a	n/a
20	MYC	chr10:116264686-116265431	MCF10A-Er-Src	breast:	n/a	n/a
21	SIN3AK20	chr10:116264603-116265436	MCF-7	breast:	n/a	n/a
22	NR2F2	chr10:116264699-116265392	MCF-7	breast:	n/a	n/a
23	NR2F2	chr10:116264664-116265377	MCF-7	breast:	n/a	n/a
24	SP1	chr10:116264672-116265363	A549	lung:	n/a	n/a
25	CEBPB	chr10:116264606-116265275	A549	lung:	n/a	chr10:116264716-116264733 chr10:116264719-116264732
26	EP300	chr10:116264518-116265620	ECC-1	luminal epithelium:	n/a	n/a
27	REST	chr10:116264700-116265339	ECC-1	luminal epithelium:	n/a	n/a
28	CEBPB	chr10:116264550-116265463	Hela-S3	cervix:	n/a	chr10:116264716-116264733 chr10:116264719-116264732
29	NFIC	chr10:116264538-116265629	ECC-1	luminal epithelium:	n/a	n/a
30	SRF	chr10:116264678-116265525	ECC-1	luminal epithelium:	n/a	n/a
31	CEBPB	chr10:116264537-116265692	ECC-1	luminal epithelium:	n/a	chr10:116264716-116264733 chr10:116264719-116264732
32	FOS	chr10:116264658-116264750	MCF10A-Er-Src	breast:	n/a	chr10:116264687-116264695 chr10:116264688-116264695 chr10:116264683-116264694
33	ZBTB7A	chr10:116264432-116265371	ECC-1	luminal epithelium:	n/a	n/a
34	ESR1	chr10:116264664-116265385	ECC-1	luminal epithelium:	n/a	n/a
35	JUND	chr10:116264662-116265387	Hela-S3	cervix:	n/a	chr10:116264687-116264695 chr10:116264688-116264695 chr10:116264683-116264694
36	CEBPB	chr10:116264535-116265468	ECC-1	luminal epithelium:	n/a	chr10:116264716-116264733 chr10:116264719-116264732
37	TCF12	chr10:116264431-116265555	A549	lung:	n/a	chr10:116265140-116265148 chr10:116265221-116265231 chr10:116265220-116265227
38	ZBTB7A	chr10:116264527-116265052	ECC-1	luminal epithelium:	n/a	n/a
39	NR3C1	chr10:116264690-116265537	ECC-1	luminal epithelium:	n/a	n/a
40	MYC	chr10:116264695-116265450	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:116263250..116265111-chr10:116285269..116286971,2	MCF-7	breast:
2	chr10:116263421..116264995-chr10:116278964..116280973,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000229668	TF binding region
ENSG00000099204	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs1923285	0.92[ASN][1000 genomes]
rs2145896	0.97[AFR][1000 genomes]
rs2475226	0.89[AFR][1000 genomes]
rs2475228	0.97[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs2475230	0.92[ASN][1000 genomes]
rs2475231	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2497701	0.86[ASN][1000 genomes]
rs2497702	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7096193	0.99[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9421177	0.86[ASN][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:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:116225000-116267200	Weak transcription	Aorta	Aorta
2	chr10:116225600-116278800	Weak transcription	HSMM	muscle
3	chr10:116243000-116286200	Weak transcription	Spleen	Spleen
4	chr10:116249600-116264800	Weak transcription	Pancreas	Pancrea
5	chr10:116250200-116265200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr10:116252000-116267200	Weak transcription	Fetal Muscle Trunk	muscle
7	chr10:116252200-116264800	Weak transcription	Brain Substantia Nigra	brain
8	chr10:116252600-116264800	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr10:116252600-116264800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr10:116252600-116264800	Weak transcription	Stomach Smooth Muscle	stomach
11	chr10:116253200-116264800	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr10:116256800-116264800	Weak transcription	Brain Hippocampus Middle	brain
13	chr10:116258000-116271400	Enhancers	Stomach Mucosa	stomach
14	chr10:116259600-116272000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr10:116259800-116264800	Weak transcription	Brain Anterior Caudate	brain
16	chr10:116259800-116267200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr10:116259800-116267200	Weak transcription	Lung	lung
18	chr10:116259800-116276800	Weak transcription	Thymus	Thymus
19	chr10:116260000-116264800	Weak transcription	Liver	Liver
20	chr10:116260000-116267200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr10:116260000-116268800	Weak transcription	Gastric	stomach
22	chr10:116260000-116269800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
23	chr10:116260000-116272800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
24	chr10:116260200-116265200	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr10:116260200-116268800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr10:116260400-116264800	Weak transcription	Right Atrium	heart
27	chr10:116260400-116267200	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr10:116260400-116268600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
29	chr10:116260400-116272800	Enhancers	Primary T helper naive cells from peripheral blood	blood
30	chr10:116260800-116264800	Weak transcription	Duodenum Mucosa	Duodenum
31	chr10:116260800-116269600	Enhancers	Primary T killer memory cells from peripheral blood	blood
32	chr10:116261000-116264800	Weak transcription	Rectal Mucosa Donor 29	rectum
33	chr10:116261000-116267000	Weak transcription	Colonic Mucosa	Colon
34	chr10:116261000-116267200	Weak transcription	Esophagus	oesophagus
35	chr10:116261200-116264800	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr10:116261200-116279400	Weak transcription	GM12878-XiMat	blood
37	chr10:116261600-116264800	Enhancers	HUVEC	blood vessel
38	chr10:116261800-116264800	Weak transcription	Small Intestine	intestine
39	chr10:116262000-116268600	Weak transcription	Primary B cells from cord blood	blood
40	chr10:116262200-116267200	Weak transcription	Right Ventricle	heart
41	chr10:116262600-116266800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr10:116262600-116267600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr10:116262600-116274800	Weak transcription	Fetal Thymus	thymus
44	chr10:116262800-116265000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr10:116262800-116266200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr10:116263000-116267200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
47	chr10:116263000-116268200	Enhancers	Fetal Stomach	stomach
48	chr10:116263000-116268600	Enhancers	Fetal Lung	lung
49	chr10:116263000-116269000	Weak transcription	Primary hematopoietic stem cells	blood
50	chr10:116263000-116269000	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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