Variant report

Variant	rs569098774
Chromosome Location	chr12:40500004-40500005
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	POLR2A	chr12:40499486-40500099	HUVEC	blood vessel:	n/a	n/a
2	SP1	chr12:40499686-40500115	GM12878	blood:	n/a	chr12:40499957-40499967 chr12:40499943-40499957 chr12:40499994-40500005 chr12:40499995-40500004 chr12:40499881-40499895 chr12:40499995-40500005 chr12:40499958-40499967 chr12:40499943-40499952 chr12:40499994-40500006 chr12:40499884-40499896 chr12:40499995-40500009 chr12:40499956-40499967 chr12:40499996-40500005 chr12:40499922-40499933 chr12:40499942-40499954 chr12:40499944-40499953 chr12:40499994-40500006 chr12:40499942-40499953 chr12:40499975-40499984 chr12:40499942-40499954 chr12:40499956-40499968
3	POLR2A	chr12:40499244-40500094	HepG2	liver:	n/a	n/a
4	CREB1	chr12:40499618-40500115	A549	lung:	n/a	n/a
5	TAF1	chr12:40499611-40500259	PFSK-1	brain:	n/a	n/a
6	POLR2A	chr12:40499624-40500031	A549	lung:	n/a	n/a
7	ZNF263	chr12:40499084-40500634	HEK293-T-REx	kidney:	n/a	n/a
8	SP4	chr12:40499629-40500122	H1-hESC	embryonic stem cell:	n/a	chr12:40499942-40499958 chr12:40499994-40500005 chr12:40499992-40500008 chr12:40499956-40499967 chr12:40499954-40499970 chr12:40499922-40499933 chr12:40499942-40499953
9	HCFC1	chr12:40499308-40500012	K562	blood:	n/a	n/a
10	GTF2F1	chr12:40499808-40500008	K562	blood:	n/a	n/a
11	HMGN3	chr12:40498748-40500071	K562	blood:	n/a	n/a
12	BHLHE40	chr12:40499733-40500047	A549	lung:	n/a	chr12:40499900-40499909
13	ZBTB7A	chr12:40498631-40500049	ECC-1	luminal epithelium:	n/a	n/a
14	USF2	chr12:40499720-40500095	HepG2	liver:	n/a	chr12:40499899-40499910 chr12:40499900-40499909
15	USF1	chr12:40499714-40500173	HCT-116	colon:	n/a	chr12:40499899-40499910 chr12:40499900-40499909
16	USF1	chr12:40499667-40500110	A549	lung:	n/a	chr12:40499899-40499910 chr12:40499900-40499909
17	BHLHE40	chr12:40498581-40500322	K562	blood:	n/a	chr12:40499900-40499909
18	YY1	chr12:40499111-40500241	HepG2	liver:	n/a	chr12:40499867-40499878
19	RFX5	chr12:40499699-40500191	Hela-S3	cervix:	n/a	n/a
20	POLR2A	chr12:40498571-40500049	K562	blood:	n/a	n/a
21	E2F4	chr12:40498599-40500108	K562	blood:	n/a	chr12:40499879-40499890 chr12:40499878-40499890 chr12:40499961-40499971
22	POLR2A	chr12:40499666-40500028	HCT-116	colon:	n/a	n/a
23	TBP	chr12:40498555-40500307	K562	blood:	n/a	chr12:40500270-40500281
24	POLR2A	chr12:40499044-40500024	ECC-1	luminal epithelium:	n/a	n/a
25	POLR2A	chr12:40499631-40500177	Hela-S3	cervix:	n/a	n/a
26	USF1	chr12:40499686-40500079	H1-hESC	embryonic stem cell:	n/a	chr12:40499899-40499910 chr12:40499900-40499909
27	E2F6	chr12:40498565-40500142	K562	blood:	n/a	chr12:40499878-40499890 chr12:40499961-40499971
28	MAX	chr12:40498595-40500262	HepG2	liver:	n/a	chr12:40498818-40498825 chr12:40499945-40499955 chr12:40498817-40498826
29	MAX	chr12:40498593-40500350	NB4	blood:	n/a	chr12:40498818-40498825 chr12:40499945-40499955 chr12:40498817-40498826
30	USF1	chr12:40499654-40500142	A549	lung:	n/a	chr12:40499899-40499910 chr12:40499900-40499909
31	MAX	chr12:40498540-40500343	HepG2	liver:	n/a	chr12:40498818-40498825 chr12:40499945-40499955 chr12:40498817-40498826
32	TBP	chr12:40499790-40500192	Hela-S3	cervix:	n/a	n/a
33	POLR2A	chr12:40499109-40500019	IMR90	lung:	n/a	n/a
34	POLR2A	chr12:40499634-40500022	MCF10A-Er-Src	breast:	n/a	n/a
35	CREB1	chr12:40499005-40500250	HepG2	liver:	n/a	n/a
36	POLR2A	chr12:40499108-40500022	K562	blood:	n/a	n/a
37	MAX	chr12:40498557-40500235	Hela-S3	cervix:	n/a	chr12:40498818-40498825 chr12:40499945-40499955 chr12:40498817-40498826
38	SIN3A	chr12:40498592-40500212	H1-hESC	embryonic stem cell:	n/a	chr12:40499870-40499881 chr12:40499864-40499873
39	SMC3	chr12:40499691-40500274	Hela-S3	cervix:	n/a	n/a
40	POLR2A	chr12:40499635-40500208	Hela-S3	cervix:	n/a	n/a
41	POLR2A	chr12:40499557-40500006	K562	blood:	n/a	n/a
42	FOXP2	chr12:40499629-40500058	PFSK-1	brain:	n/a	n/a
43	CEBPB	chr12:40499734-40500440	Hela-S3	cervix:	n/a	n/a
44	POLR2A	chr12:40499227-40500145	NB4	blood:	n/a	n/a
45	POLR2A	chr12:40499614-40500069	ProgFib	skin:	n/a	n/a
46	POLR2A	chr12:40499525-40500279	PFSK-1	brain:	n/a	n/a
47	HA-E2F1	chr12:40498773-40500267	MCF-7	breast:	n/a	chr12:40499878-40499890 chr12:40499961-40499971
48	POLR2A	chr12:40499015-40500210	Raji	blood:	n/a	n/a
49	MAZ	chr12:40498456-40500202	K562	blood:	n/a	chr12:40498818-40498825 chr12:40499945-40499955 chr12:40498817-40498826
50	EGR1	chr12:40499770-40500080	K562	blood:	n/a	chr12:40499996-40500006 chr12:40499945-40499958 chr12:40499946-40499956 chr12:40499944-40499959

Variant related genes	Relation type
SLC2A13	TF binding region

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

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv558596	chr12:40413698-40591117	Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv899028	chr12:40478652-40524180	Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
3	nsv899029	chr12:40478652-40536061	Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	esv1836585	chr12:40492814-40540939	Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	esv1839483	chr12:40492814-40540939	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	esv3359383	chr12:40498110-40500658	Flanking Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	n/a
7	esv3436452	chr12:40498510-40501058	Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	n/a
8	esv1846566	chr12:40498683-40527395	Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
9	esv19723	chr12:40499468-40500027	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	n/a
10	esv1838306	chr12:40499495-40527395	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:40496800-40500400	Active TSS	Stomach Smooth Muscle	stomach
2	chr12:40496800-40501600	Active TSS	Brain Cingulate Gyrus	brain
3	chr12:40496800-40501600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
4	chr12:40496800-40501600	Active TSS	Pancreatic Islets	Pancreatic Islet
5	chr12:40497000-40500200	Active TSS	Brain Angular Gyrus	brain
6	chr12:40497000-40501600	Active TSS	Brain Inferior Temporal Lobe	brain
7	chr12:40497000-40501600	Active TSS	Fetal Kidney	kidney
8	chr12:40497200-40502200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr12:40497400-40501600	Active TSS	Right Atrium	heart
10	chr12:40497600-40500400	Active TSS	Fetal Brain Female	brain
11	chr12:40497800-40500200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr12:40497800-40500400	Active TSS	Brain Hippocampus Middle	brain
13	chr12:40497800-40500600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
14	chr12:40497800-40501400	Active TSS	Brain Substantia Nigra	brain
15	chr12:40497800-40501400	Active TSS	Sigmoid Colon	Sigmoid Colon
16	chr12:40498000-40500200	Active TSS	H9 Cell Line	embryonic stem cell
17	chr12:40498000-40500400	Active TSS	Colon Smooth Muscle	Colon
18	chr12:40498000-40500800	Active TSS	Rectal Smooth Muscle	rectum
19	chr12:40498000-40501600	Active TSS	Ovary	ovary
20	chr12:40498200-40500200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr12:40498200-40500200	Active TSS	A549	lung
22	chr12:40498200-40501800	Active TSS	Duodenum Smooth Muscle	Duodenum
23	chr12:40498200-40501800	Active TSS	NHLF	lung
24	chr12:40498400-40501600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr12:40498600-40500200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr12:40498600-40500200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr12:40498600-40500200	Enhancers	Fetal Brain Male	brain
28	chr12:40498600-40500200	Active TSS	Small Intestine	intestine
29	chr12:40498600-40500400	Active TSS	HSMM	muscle
30	chr12:40498600-40500400	Active TSS	HSMMtube	muscle
31	chr12:40498600-40501600	Active TSS	Aorta	Aorta
32	chr12:40498800-40500200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr12:40498800-40500200	Active TSS	Fetal Lung	lung
34	chr12:40498800-40500200	Active TSS	Stomach Mucosa	stomach
35	chr12:40498800-40500200	Active TSS	NHDF-Ad	bronchial
36	chr12:40498800-40500400	Active TSS	HepG2	liver
37	chr12:40498800-40501000	Active TSS	Pancreas	Pancrea
38	chr12:40498800-40501600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr12:40498800-40501600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr12:40499000-40500200	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr12:40499000-40500200	Active TSS	iPS-15b Cell Line	embryonic stem cell
42	chr12:40499000-40500200	Active TSS	iPS-20b Cell Line	embryonic stem cell
43	chr12:40499000-40500200	Active TSS	Cortex derived primary cultured neurospheres	brain
44	chr12:40499000-40500200	Active TSS	Lung	lung
45	chr12:40499000-40500200	Active TSS	Rectal Mucosa Donor 29	rectum
46	chr12:40499000-40500200	Active TSS	Right Ventricle	heart
47	chr12:40499000-40500200	Active TSS	HUVEC	blood vessel
48	chr12:40499000-40500200	Active TSS	NHEK	skin
49	chr12:40499000-40500200	Active TSS	Osteobl	bone
50	chr12:40499000-40500400	Active TSS	iPS-18 Cell Line	embryonic stem cell

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