Variant report

Variant	rs12260368
Chromosome Location	chr10:91011953-91011954
allele	G/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	POLR2A	chr10:91011150-91011965	HEK293	kidney:	n/a	n/a
2	MAX	chr10:91010972-91012069	NB4	blood:	n/a	chr10:91011966-91011975
3	ELF1	chr10:91011345-91012041	GM12878	blood:	n/a	chr10:91011652-91011663 chr10:91012022-91012033
4	EGR1	chr10:91011408-91012022	ECC-1	luminal epithelium:	n/a	chr10:91011806-91011817 chr10:91011806-91011816 chr10:91011855-91011868 chr10:91011724-91011733
5	E2F6	chr10:91011623-91011992	A549	lung:	n/a	chr10:91011631-91011640
6	EBF1	chr10:91011443-91011955	GM12878	blood:	n/a	n/a
7	MAX	chr10:91010965-91012068	H1-hESC	embryonic stem cell:	n/a	chr10:91011966-91011975
8	MAX	chr10:91011364-91012095	SK-N-SH	brain:	n/a	chr10:91011966-91011975
9	TBP	chr10:91011495-91011959	GM12878	blood:	n/a	n/a
10	MXI1	chr10:91010891-91012146	GM12878	blood:	n/a	n/a
11	MXI1	chr10:91010333-91012194	IMR90	lung:	n/a	n/a
12	E2F6	chr10:91011495-91012081	A549	lung:	n/a	chr10:91011631-91011640
13	MYC	chr10:91010959-91012066	NB4	blood:	n/a	chr10:91011966-91011975
14	POLR2A	chr10:91011321-91012028	H1-neurons	neurons:	n/a	n/a
15	POLR2A	chr10:91010924-91012095	GM12878	blood:	n/a	n/a
16	POLR2A	chr10:91011330-91012025	MCF10A-Er-Src	breast:	n/a	n/a
17	FOSL2	chr10:91011704-91012166	A549	lung:	n/a	n/a
18	CHD2	chr10:91011333-91011988	Hela-S3	cervix:	n/a	n/a
19	MAX	chr10:91010931-91012129	HepG2	liver:	n/a	chr10:91011966-91011975
20	TAF1	chr10:91011157-91012039	ECC-1	luminal epithelium:	n/a	n/a
21	ELF1	chr10:91011286-91011985	MCF-7	breast:	n/a	chr10:91011652-91011663
22	NRF1	chr10:91011496-91012032	GM12878	blood:	n/a	chr10:91011811-91011822
23	MAX	chr10:91010985-91012046	GM12878	blood:	n/a	chr10:91011966-91011975
24	ARID3A	chr10:91011635-91012246	HepG2	liver:	n/a	n/a
25	SP1	chr10:91011215-91012037	A549	lung:	n/a	chr10:91011671-91011682 chr10:91011630-91011651 chr10:91011854-91011863 chr10:91011852-91011864 chr10:91011853-91011862 chr10:91011852-91011864
26	SP1	chr10:91011278-91012090	A549	lung:	n/a	chr10:91011671-91011682 chr10:91011630-91011651 chr10:91011854-91011863 chr10:91011852-91011864 chr10:91011853-91011862 chr10:91011852-91011864
27	POLR2A	chr10:91011245-91012080	PANC-1	pancreas:	n/a	n/a
28	SIN3A	chr10:91010969-91011953	H1-hESC	embryonic stem cell:	n/a	chr10:91011493-91011502
29	POLR2A	chr10:91011293-91011991	HCT-116	colon:	n/a	n/a
30	POLR2A	chr10:91011240-91012027	GM18951	blood:	n/a	n/a
31	TCF12	chr10:91010937-91012009	ECC-1	luminal epithelium:	n/a	chr10:91011170-91011180 chr10:91011458-91011465
32	MTA3	chr10:91010852-91012030	GM12878	blood:	n/a	n/a
33	POLR2A	chr10:91011284-91012069	U87	brain:	n/a	n/a
34	SIN3AK20	chr10:91011086-91011962	PANC-1	pancreas:	n/a	n/a
35	FOS	chr10:91011700-91011960	MCF10A-Er-Src	breast:	n/a	n/a
36	POLR2A	chr10:91011270-91011954	H1-neurons	neurons:	n/a	n/a
37	FOS	chr10:91011790-91012063	MCF10A-Er-Src	breast:	n/a	n/a
38	MAZ	chr10:91010895-91012003	IMR90	lung:	n/a	chr10:91011966-91011975
39	POLR2A	chr10:91011299-91011997	SK-N-SH	brain:	n/a	n/a
40	MYC	chr10:91011626-91012114	MCF10A-Er-Src	breast:	n/a	chr10:91011966-91011975
41	RFX5	chr10:91011356-91012026	Hela-S3	cervix:	n/a	chr10:91011632-91011641
42	REST	chr10:91010654-91012051	H1-neurons	neurons:	n/a	chr10:91011496-91011505 chr10:91011240-91011249 chr10:91011548-91011558 chr10:91011229-91011249 chr10:91011460-91011473
43	MAX	chr10:91010950-91012125	MCF-7	breast:	n/a	chr10:91011966-91011975
44	POLR2A	chr10:91011135-91012004	Raji	blood:	n/a	n/a
45	POLR2A	chr10:91011053-91012004	GM12892	blood:	n/a	n/a
46	YY1	chr10:91011495-91012035	HepG2	liver:	n/a	chr10:91011544-91011555 chr10:91011686-91011697
47	POLR2A	chr10:91011270-91012074	GM12891	blood:	n/a	n/a
48	BHLHE40	chr10:91011304-91012040	GM12878	blood:	n/a	chr10:91011458-91011474
49	EP300	chr10:91011587-91011978	A549	lung:	n/a	n/a
50	MAX	chr10:91010905-91012230	HCT-116	colon:	n/a	chr10:91011966-91011975

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:91009631..91012227-chr10:91174311..91176643,2	MCF-7	breast:
2	chr10:90610616..90613278-chr10:91010263..91012632,2	MCF-7	breast:

Variant related genes	Relation type
LIPA	TF binding region
ENSG00000152778	Chromatin interaction
ENSG00000107798	Chromatin interaction
ENSG00000152766	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs10887952	1.00[MEX][hapmap]
rs7096890	1.00[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1042848	chr10:90466032-91318474	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv540741	chr10:90466032-91318474	Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
3	esv2758235	chr10:90835064-91017486	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	esv2759775	chr10:90835064-91017486	Weak transcription Bivalent/Poised TSS Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv1041964	chr10:90861380-91378356	Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
6	nsv895882	chr10:91002927-91021645	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 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	chr10:91009400-91012000	Active TSS	Fetal Intestine Large	intestine
2	chr10:91009800-91012000	Active TSS	GM12878-XiMat	blood
3	chr10:91010200-91012000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr10:91010200-91012000	Active TSS	Right Atrium	heart
5	chr10:91010200-91012400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
6	chr10:91010400-91012000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr10:91010400-91012000	Active TSS	NHDF-Ad	bronchial
8	chr10:91010600-91012000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr10:91010600-91012000	Active TSS	Brain Anterior Caudate	brain
10	chr10:91010600-91012000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
11	chr10:91010600-91012000	Active TSS	Colonic Mucosa	Colon
12	chr10:91010800-91012000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr10:91010800-91012000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr10:91010800-91012000	Active TSS	Brain Germinal Matrix	brain
15	chr10:91010800-91012000	Active TSS	Fetal Kidney	kidney
16	chr10:91010800-91012000	Active TSS	Pancreatic Islets	Pancreatic Islet
17	chr10:91010800-91012000	Active TSS	Ovary	ovary
18	chr10:91010800-91012000	Active TSS	Psoas Muscle	Psoas
19	chr10:91010800-91012000	Active TSS	Right Ventricle	heart
20	chr10:91011000-91012000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr10:91011000-91012000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr10:91011000-91012000	Active TSS	Rectal Smooth Muscle	rectum
23	chr10:91011000-91012000	Active TSS	A549	lung
24	chr10:91011000-91012000	Active TSS	NHEK	skin
25	chr10:91011000-91012200	Active TSS	Breast Myoepithelial Primary Cells	Breast
26	chr10:91011000-91012400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr10:91011200-91012000	Active TSS	H1 Cell Line	embryonic stem cell
28	chr10:91011200-91012000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr10:91011200-91012000	Active TSS	Primary monocytes fromperipheralblood	blood
30	chr10:91011200-91012000	Active TSS	Primary B cells from peripheral blood	blood
31	chr10:91011200-91012000	Active TSS	Primary T cells from cord blood	blood
32	chr10:91011200-91012000	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
33	chr10:91011200-91012000	Active TSS	Primary T helper cells PMA-I stimulated	--
34	chr10:91011200-91012000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr10:91011200-91012000	Active TSS	Brain Hippocampus Middle	brain
36	chr10:91011200-91012000	Active TSS	Duodenum Smooth Muscle	Duodenum
37	chr10:91011200-91012000	Active TSS	Fetal Adrenal Gland	Adrenal Gland
38	chr10:91011200-91012000	Active TSS	Fetal Lung	lung
39	chr10:91011200-91012000	Active TSS	Fetal Stomach	stomach
40	chr10:91011200-91012000	Active TSS	Left Ventricle	heart
41	chr10:91011200-91012000	Active TSS	Pancreas	Pancrea
42	chr10:91011200-91012000	Active TSS	Rectal Mucosa Donor 31	rectum
43	chr10:91011200-91012000	Active TSS	Skeletal Muscle Male	skeletal muscle
44	chr10:91011200-91012000	Active TSS	HSMM	muscle
45	chr10:91011200-91012000	Active TSS	HSMMtube	muscle
46	chr10:91011200-91012000	Active TSS	NHLF	lung
47	chr10:91011200-91012000	Active TSS	Osteobl	bone
48	chr10:91011200-91012200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr10:91011200-91012200	Active TSS	Primary T regulatory cells fromperipheralblood	blood
50	chr10:91011200-91012200	Active TSS	Brain Substantia Nigra	brain

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