Variant report

Variant	rs12217279
Chromosome Location	chr10:116252603-116252604
allele	C/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	MAX	chr10:116252436-116252758	NB4	blood:	n/a	chr10:116252599-116252608 chr10:116252599-116252608 chr10:116252600-116252609 chr10:116252598-116252609 chr10:116252598-116252609 chr10:116252597-116252610 chr10:116252599-116252608 chr10:116252597-116252610 chr10:116252594-116252613
2	USF1	chr10:116252350-116252763	SK-N-SH	brain:	n/a	chr10:116252658-116252671
3	USF1	chr10:116252355-116252824	ECC-1	luminal epithelium:	n/a	chr10:116252658-116252671
4	RUNX3	chr10:116252460-116252823	GM12878	blood:	n/a	n/a
5	RUNX3	chr10:116252336-116252845	GM12878	blood:	n/a	n/a
6	STAT3	chr10:116252446-116252790	MCF10A-Er-Src	breast:	n/a	n/a
7	REST	chr10:116252012-116252700	H1-neurons	neurons:	n/a	n/a
8	USF1	chr10:116252545-116252666	GM12878	blood:	n/a	n/a
9	FOS	chr10:116252409-116252720	MCF10A-Er-Src	breast:	n/a	n/a
10	USF1	chr10:116252473-116252741	SK-N-SH_RA	brain:	n/a	chr10:116252658-116252671
11	FOS	chr10:116252417-116252723	MCF10A-Er-Src	breast:	n/a	n/a
12	USF2	chr10:116252431-116252612	Hela-S3	cervix:	n/a	n/a
13	USF2	chr10:116252418-116252785	GM12878	blood:	n/a	chr10:116252658-116252671
14	STAT3	chr10:116252482-116252747	MCF10A-Er-Src	breast:	n/a	n/a
15	E2F4	chr10:116252517-116252843	MCF10A-Er-Src	breast:	n/a	n/a
16	NFE2	chr10:116252506-116252733	GM12878	blood:	n/a	chr10:116252599-116252608
17	STAT3	chr10:116252482-116252774	MCF10A-Er-Src	breast:	n/a	n/a
18	BHLHE40	chr10:116252450-116252854	GM12878	blood:	n/a	chr10:116252658-116252671
19	FOS	chr10:116252421-116252722	MCF10A-Er-Src	breast:	n/a	n/a
20	JUND	chr10:116251663-116252656	SK-N-SH	brain:	n/a	chr10:116251940-116251949 chr10:116251939-116251948 chr10:116251938-116251950
21	USF1	chr10:116252348-116252938	HCT-116	colon:	n/a	chr10:116252658-116252671
22	MAX	chr10:116252466-116252653	H1-hESC	embryonic stem cell:	n/a	chr10:116252599-116252608 chr10:116252599-116252608 chr10:116252600-116252609 chr10:116252598-116252609 chr10:116252598-116252609 chr10:116252597-116252610 chr10:116252599-116252608 chr10:116252597-116252610 chr10:116252594-116252613
23	STAT3	chr10:116252587-116252741	MCF10A-Er-Src	breast:	n/a	n/a
24	MYC	chr10:116252484-116252770	MCF10A-Er-Src	breast:	n/a	chr10:116252599-116252608 chr10:116252599-116252608 chr10:116252600-116252609 chr10:116252598-116252609 chr10:116252598-116252609 chr10:116252597-116252610 chr10:116252599-116252608 chr10:116252597-116252610 chr10:116252594-116252613
25	USF1	chr10:116252412-116252678	SK-N-SH_RA	brain:	n/a	chr10:116252658-116252671

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:116245877..116247978-chr10:116251219..116253992,2	MCF-7	breast:

Variant related genes	Relation type
ABLIM1	TF binding region
ENSG00000099204	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11196757	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11196759	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11196760	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11196762	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11196765	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11196767	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41284346	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61867861	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61867862	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61870097	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61870098	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61870100	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61870101	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:116214600-116263600	Weak transcription	Rectal Smooth Muscle	rectum
2	chr10:116222200-116264400	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr10:116225000-116267200	Weak transcription	Aorta	Aorta
4	chr10:116225600-116278800	Weak transcription	HSMM	muscle
5	chr10:116243000-116286200	Weak transcription	Spleen	Spleen
6	chr10:116245000-116258800	Weak transcription	Colonic Mucosa	Colon
7	chr10:116247000-116255200	Weak transcription	Fetal Kidney	kidney
8	chr10:116248000-116258200	Weak transcription	Fetal Intestine Large	intestine
9	chr10:116249600-116264800	Weak transcription	Pancreas	Pancrea
10	chr10:116249800-116252800	Strong transcription	Liver	Liver
11	chr10:116249800-116259400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr10:116250000-116256600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr10:116250000-116256600	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr10:116250000-116256600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr10:116250000-116258400	Weak transcription	Fetal Intestine Small	intestine
16	chr10:116250000-116259400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr10:116250200-116256600	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr10:116250200-116256600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr10:116250200-116264600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr10:116250200-116265200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr10:116250400-116252800	Enhancers	Breast Myoepithelial Primary Cells	Breast
22	chr10:116250800-116253000	Enhancers	Ovary	ovary
23	chr10:116251000-116253000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr10:116251000-116253200	Enhancers	Fetal Lung	lung
25	chr10:116251000-116253200	Enhancers	Fetal Muscle Leg	muscle
26	chr10:116251000-116253200	Enhancers	Stomach Mucosa	stomach
27	chr10:116251000-116259000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
28	chr10:116251200-116253000	Enhancers	HMEC	breast
29	chr10:116251400-116252800	Enhancers	Skeletal Muscle Male	skeletal muscle
30	chr10:116251400-116253000	Enhancers	Skeletal Muscle Female	skeletal muscle
31	chr10:116251400-116253200	Enhancers	Thymus	Thymus
32	chr10:116251400-116253600	Enhancers	Pancreatic Islets	Pancreatic Islet
33	chr10:116251400-116254600	Weak transcription	Duodenum Mucosa	Duodenum
34	chr10:116251400-116258400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr10:116251400-116259200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
36	chr10:116251600-116252800	Enhancers	Right Atrium	heart
37	chr10:116251600-116253000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
38	chr10:116251600-116253000	Enhancers	Adipose Nuclei	Adipose
39	chr10:116251600-116253000	Enhancers	Fetal Heart	heart
40	chr10:116251600-116253000	Enhancers	Right Ventricle	heart
41	chr10:116251600-116253000	Enhancers	Small Intestine	intestine
42	chr10:116251600-116253200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr10:116251600-116253200	Enhancers	Primary B cells from peripheral blood	blood
44	chr10:116251600-116253200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
45	chr10:116251600-116253200	Enhancers	GM12878-XiMat	blood
46	chr10:116251600-116254200	Enhancers	Primary T killer memory cells from peripheral blood	blood
47	chr10:116251600-116254200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr10:116251600-116254600	Weak transcription	Rectal Mucosa Donor 29	rectum
49	chr10:116251600-116255600	Weak transcription	HSMMtube	muscle
50	chr10:116251800-116252800	Enhancers	Sigmoid Colon	Sigmoid Colon

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