Variant report

Variant	rs12251910
Chromosome Location	chr10:45473976-45473977
allele	A/G
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	SRF	chr10:45473877-45474735	HCT-116	colon:	n/a	chr10:45474367-45474377
2	POLR2A	chr10:45473685-45474581	HUVEC	blood vessel:	n/a	n/a
3	POLR2A	chr10:45470953-45474705	HepG2	liver:	n/a	n/a
4	MBD4	chr10:45473974-45474697	HepG2	liver:	n/a	n/a
5	HEY1	chr10:45470947-45474495	HepG2	liver:	n/a	n/a
6	SRF	chr10:45473824-45474795	MCF-7	breast:	n/a	chr10:45474367-45474377
7	KAP1	chr10:45473875-45474719	U2OS	brain:	n/a	n/a
8	STAT5A	chr10:45473889-45474499	GM12878	blood:	n/a	n/a
9	MYBL2	chr10:45470920-45474664	HepG2	liver:	n/a	n/a
10	EP300	chr10:45473669-45474609	K562	blood:	n/a	chr10:45474007-45474017
11	POU2F2	chr10:45473931-45474519	GM12878	blood:	n/a	n/a
12	POLR2A	chr10:45471121-45474585	GM19193	blood:	n/a	n/a
13	POLR2A	chr10:45473937-45474474	ProgFib	skin:	n/a	n/a
14	FOSL2	chr10:45473879-45474566	HepG2	liver:	n/a	n/a
15	STAT1	chr10:45473680-45474517	GM12878	blood:	n/a	chr10:45474488-45474500
16	POLR2A	chr10:45473271-45474480	IMR90	lung:	n/a	n/a
17	STAT3	chr10:45473839-45474918	MCF10A-Er-Src	breast:	n/a	chr10:45474488-45474500 chr10:45474289-45474300
18	MAZ	chr10:45473828-45474517	GM12878	blood:	n/a	chr10:45474367-45474377
19	POLR2A	chr10:45470342-45475147	HepG2	liver:	n/a	n/a
20	JUN	chr10:45473859-45474967	K562	blood:	n/a	n/a
21	POLR2A	chr10:45473918-45474830	Hela-S3	cervix:	n/a	n/a
22	POLR2A	chr10:45473896-45474549	SK-N-SH	brain:	n/a	n/a
23	POLR2A	chr10:45466844-45474598	HepG2	liver:	n/a	n/a
24	SMC3	chr10:45473848-45474468	HepG2	liver:	n/a	n/a
25	STAT3	chr10:45473805-45474948	MCF10A-Er-Src	breast:	n/a	chr10:45474488-45474500 chr10:45474289-45474300
26	FOXA2	chr10:45473811-45474566	HepG2	liver:	n/a	chr10:45474008-45474020
27	MXI1	chr10:45473908-45474643	GM12878	blood:	n/a	n/a
28	POLR2A	chr10:45471912-45474616	GM19099	blood:	n/a	n/a
29	REST	chr10:45473920-45474564	H1-neurons	neurons:	n/a	chr10:45474377-45474390 chr10:45474377-45474390
30	MBD4	chr10:45470183-45474624	HepG2	liver:	n/a	n/a
31	POLR2A	chr10:45469731-45474525	U87	brain:	n/a	n/a
32	POLR2A	chr10:45473942-45474475	HUVEC	blood vessel:	n/a	n/a
33	FOXA1	chr10:45473895-45474692	HepG2	liver:	n/a	chr10:45474008-45474020
34	POLR2A	chr10:45473213-45474630	PANC-1	pancreas:	n/a	n/a
35	POLR2A	chr10:45467323-45474612	GM12878	blood:	n/a	n/a
36	MAX	chr10:45472786-45474507	HepG2	liver:	n/a	chr10:45474367-45474377
37	TBP	chr10:45473783-45474517	K562	blood:	n/a	chr10:45474277-45474288
38	MYBL2	chr10:45473885-45474607	HepG2	liver:	n/a	n/a
39	STAT3	chr10:45473827-45474992	MCF10A-Er-Src	breast:	n/a	chr10:45474488-45474500 chr10:45474289-45474300
40	RCOR1	chr10:45473792-45474536	HepG2	liver:	n/a	n/a
41	POLR2A	chr10:45473764-45474437	HepG2	liver:	n/a	n/a
42	POLR2A	chr10:45473424-45474553	GM18951	blood:	n/a	n/a
43	EP300	chr10:45473973-45474615	ECC-1	luminal epithelium:	n/a	chr10:45474007-45474017
44	POLR2A	chr10:45469911-45474623	HUVEC	blood vessel:	n/a	n/a
45	TCF12	chr10:45473951-45474896	MCF-7	breast:	n/a	chr10:45474045-45474055
46	POLR2A	chr10:45473785-45474558	PANC-1	pancreas:	n/a	n/a
47	POLR2A	chr10:45470919-45474450	HepG2	liver:	n/a	n/a
48	POLR2A	chr10:45473925-45474591	HCT-116	colon:	n/a	n/a
49	SRF	chr10:45473883-45474798	HCT-116	colon:	n/a	chr10:45474367-45474377
50	POLR2A	chr10:45473944-45474468	PFSK-1	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr10:45472874..45476114-chr10:45485945..45489321,3	MCF-7	breast:
2	chr10:45472768..45475523-chr10:45475664..45479867,4	MCF-7	breast:
3	chr10:45424948..45427085-chr10:45472059..45474210,2	K562	blood:
4	chr10:45472874..45475868-chr10:45493532..45497096,3	K562	blood:
5	chr10:45473658..45475931-chr10:46089040..46091906,2	K562	blood:
6	chr10:45469560..45475620-chr10:45475961..45481693,7	MCF-7	breast:
7	chr10:45472274..45474352-chr10:45475240..45477414,3	K562	blood:
8	chr10:45452399..45456775-chr10:45472666..45475790,4	MCF-7	breast:
9	chr10:45424948..45428447-chr10:45472059..45474990,3	K562	blood:

Variant related genes	Relation type
RASSF4	TF binding region
ENSG00000224812	Chromatin interaction
ENSG00000187783	Chromatin interaction
ENSG00000165406	Chromatin interaction
ENSG00000273363	Chromatin interaction
ENSG00000165512	Chromatin interaction
ENSG00000107551	Chromatin interaction
ENSG00000165511	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs11239300	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11815349	1.00[EUR][1000 genomes]
rs11816338	1.00[EUR][1000 genomes]
rs12249378	1.00[EUR][1000 genomes]
rs12250724	1.00[EUR][1000 genomes]
rs17157321	0.95[AFR][1000 genomes]
rs56413731	1.00[EUR][1000 genomes]
rs57792208	1.00[EUR][1000 genomes]
rs58731194	0.95[AFR][1000 genomes]
rs7068974	0.81[AFR][1000 genomes]
rs7085359	1.00[EUR][1000 genomes]
rs7095998	1.00[EUR][1000 genomes]
rs73275092	1.00[EUR][1000 genomes]
rs73287594	1.00[EUR][1000 genomes]
rs74128124	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74131512	1.00[EUR][1000 genomes]
rs74131513	1.00[EUR][1000 genomes]
rs7898705	1.00[EUR][1000 genomes]
rs7899617	1.00[EUR][1000 genomes]
rs7900196	1.00[EUR][1000 genomes]
rs7903078	1.00[EUR][1000 genomes]
rs7903359	1.00[EUR][1000 genomes]
rs7924266	1.00[EUR][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	nsv831846	chr10:45322236-45556370	Bivalent Enhancer Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	nsv526734	chr10:45458485-45492054	Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:45470600-45474000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr10:45470600-45474200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr10:45470800-45474000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr10:45470800-45474000	Weak transcription	Primary T helper cells fromperipheralblood	blood
5	chr10:45470800-45474400	Active TSS	Right Atrium	heart
6	chr10:45470800-45476400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr10:45470800-45477800	Weak transcription	Primary neutrophils fromperipheralblood	blood
8	chr10:45470800-45479400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr10:45471200-45474000	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr10:45471200-45474600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr10:45471400-45474000	Transcr. at gene 5' and 3'	Skeletal Muscle Male	skeletal muscle
12	chr10:45471400-45474400	Transcr. at gene 5' and 3'	Fetal Muscle Trunk	muscle
13	chr10:45471400-45476600	Enhancers	H1 Cell Line	embryonic stem cell
14	chr10:45471600-45474000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr10:45471600-45476800	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr10:45471800-45474200	Transcr. at gene 5' and 3'	Fetal Muscle Leg	muscle
17	chr10:45472000-45474000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr10:45472000-45474000	Transcr. at gene 5' and 3'	Adipose Nuclei	Adipose
19	chr10:45472200-45474400	Active TSS	Duodenum Smooth Muscle	Duodenum
20	chr10:45472600-45474000	Active TSS	Sigmoid Colon	Sigmoid Colon
21	chr10:45472600-45474200	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr10:45472600-45474200	Active TSS	Gastric	stomach
23	chr10:45472600-45474200	Active TSS	Small Intestine	intestine
24	chr10:45472600-45474400	Flanking Active TSS	Primary hematopoietic stem cells	blood
25	chr10:45472600-45474400	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
26	chr10:45472600-45474800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr10:45472800-45474200	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
28	chr10:45472800-45474400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
29	chr10:45472800-45474400	Active TSS	Liver	Liver
30	chr10:45472800-45474400	Genic enhancers	Monocytes-CD14+_RO01746	blood
31	chr10:45472800-45474600	Flanking Active TSS	Osteobl	bone
32	chr10:45473000-45474000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr10:45473000-45474200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr10:45473000-45474200	Bivalent/Poised TSS	HepG2	liver
35	chr10:45473000-45474400	Active TSS	NHDF-Ad	bronchial
36	chr10:45473000-45474600	Flanking Active TSS	HSMM	muscle
37	chr10:45473000-45477800	Enhancers	Placenta Amnion	Placenta Amnion
38	chr10:45473200-45474200	Active TSS	Aorta	Aorta
39	chr10:45473200-45474200	Flanking Active TSS	Brain Substantia Nigra	brain
40	chr10:45473200-45474200	Flanking Active TSS	Fetal Heart	heart
41	chr10:45473200-45474200	Flanking Active TSS	HUVEC	blood vessel
42	chr10:45473200-45474400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr10:45473200-45474400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr10:45473200-45474400	Flanking Active TSS	Brain Angular Gyrus	brain
45	chr10:45473200-45474600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
46	chr10:45473200-45475000	Flanking Active TSS	Stomach Smooth Muscle	stomach
47	chr10:45473400-45474000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr10:45473400-45474000	Enhancers	K562	blood
49	chr10:45473400-45474000	Enhancers	NHEK	skin
50	chr10:45473400-45474000	Active TSS	NHLF	lung

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