Variant report

Variant	rs545809934
Chromosome Location	chr12:29936307-29936308
allele	A/C
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	MYC	chr12:29936252-29936392	MCF10A-Er-Src	breast:	n/a	n/a
2	CTBP2	chr12:29935729-29936977	H1-hESC	embryonic stem cell:	n/a	n/a
3	E2F6	chr12:29935779-29936618	H1-hESC	embryonic stem cell:	n/a	chr12:29935823-29935833 chr12:29936271-29936282 chr12:29936268-29936285
4	E2F6	chr12:29936008-29936558	H1-hESC	embryonic stem cell:	n/a	chr12:29936271-29936282 chr12:29936268-29936285
5	RAD21	chr12:29935245-29936659	IMR90	lung:	n/a	n/a
6	POLR2A	chr12:29934284-29937016	MCF10A-Er-Src	breast:	n/a	n/a
7	MYC	chr12:29936271-29936654	MCF-7	breast:	n/a	n/a
8	TCF7L2	chr12:29935061-29936358	Hela-S3	cervix:	n/a	chr12:29935275-29935284
9	POLR2A	chr12:29936240-29936347	MCF-7	breast:	n/a	n/a
10	RFX5	chr12:29936298-29936403	Hela-S3	cervix:	n/a	n/a
11	POLR2A	chr12:29935324-29936574	Hela-S3	cervix:	n/a	n/a
12	POLR2A	chr12:29936120-29936446	Hela-S3	cervix:	n/a	n/a
13	SIN3A	chr12:29934958-29937743	H1-hESC	embryonic stem cell:	n/a	chr12:29936999-29937010 chr12:29936827-29936838 chr12:29937288-29937302 chr12:29937289-29937298 chr12:29937059-29937068 chr12:29935826-29935837
14	ZNF263	chr12:29935067-29937647	HEK293-T-REx	kidney:	n/a	n/a
15	POLR2A	chr12:29936293-29937098	Gliobla	brain:	n/a	n/a
16	E2F4	chr12:29936071-29936464	MCF10A-Er-Src	breast:	n/a	chr12:29936271-29936282 chr12:29936268-29936285
17	MAZ	chr12:29935094-29937598	Hela-S3	cervix:	n/a	chr12:29936882-29936892 chr12:29937117-29937126
18	POLR2A	chr12:29935659-29937158	ECC-1	luminal epithelium:	n/a	n/a
19	POLR2A	chr12:29935038-29937024	MCF10A-Er-Src	breast:	n/a	n/a
20	MAX	chr12:29935810-29936610	H1-hESC	embryonic stem cell:	n/a	n/a
21	POLR2A	chr12:29935165-29936578	Hela-S3	cervix:	n/a	n/a
22	RCOR1	chr12:29935147-29936950	Hela-S3	cervix:	n/a	n/a
23	GTF2F1	chr12:29936165-29936313	H1-hESC	embryonic stem cell:	n/a	n/a
24	MAX	chr12:29935040-29937585	Hela-S3	cervix:	n/a	chr12:29936882-29936892 chr12:29937117-29937126
25	POLR2A	chr12:29935133-29937633	Hela-S3	cervix:	n/a	n/a
26	MAZ	chr12:29934937-29937647	IMR90	lung:	n/a	chr12:29936882-29936892 chr12:29937117-29937126
27	MAX	chr12:29935855-29936601	ECC-1	luminal epithelium:	n/a	n/a
28	MXI1	chr12:29934749-29936429	Hela-S3	cervix:	n/a	n/a
29	MAX	chr12:29935809-29936588	ECC-1	luminal epithelium:	n/a	n/a
30	TBP	chr12:29936039-29937015	H1-hESC	embryonic stem cell:	n/a	n/a
31	CHD2	chr12:29935989-29936421	Hela-S3	cervix:	n/a	n/a
32	TAF1	chr12:29935783-29936432	ECC-1	luminal epithelium:	n/a	n/a
33	YY1	chr12:29936024-29936491	ECC-1	luminal epithelium:	n/a	chr12:29936475-29936489
34	POLR2A	chr12:29935246-29936971	Hela-S3	cervix:	n/a	n/a
35	POLR2A	chr12:29936116-29937093	H1-hESC	embryonic stem cell:	n/a	n/a
36	ELK1	chr12:29936199-29936333	Hela-S3	cervix:	n/a	n/a
37	POLR2A	chr12:29936213-29936571	H1-hESC	embryonic stem cell:	n/a	n/a
38	RAD21	chr12:29936141-29936583	H1-hESC	embryonic stem cell:	n/a	n/a
39	TCF12	chr12:29935761-29936531	ECC-1	luminal epithelium:	n/a	n/a
40	CHD1	chr12:29934973-29937715	IMR90	lung:	n/a	chr12:29936887-29936897
41	MXI1	chr12:29934395-29937646	IMR90	lung:	n/a	n/a
42	POLR2A	chr12:29936282-29937042	MCF-7	breast:	n/a	n/a
43	POLR2A	chr12:29935513-29937181	H1-hESC	embryonic stem cell:	n/a	n/a
44	POLR2A	chr12:29935321-29937129	GM18951	blood:	n/a	n/a
45	SMARCB1	chr12:29935592-29937600	Hela-S3	cervix:	n/a	n/a
46	RCOR1	chr12:29934833-29937689	IMR90	lung:	n/a	n/a
47	SMARCC1	chr12:29935164-29936557	Hela-S3	cervix:	n/a	chr12:29935275-29935284
48	CHD1	chr12:29935672-29936902	H1-hESC	embryonic stem cell:	n/a	chr12:29936887-29936897
49	TAF1	chr12:29935835-29937105	H1-hESC	embryonic stem cell:	n/a	n/a
50	POLR2A	chr12:29935912-29936555	H1-hESC	embryonic stem cell:	n/a	n/a

Variant related genes	Relation type
TMTC1	TF binding region

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529328	chr12:29692414-30246209	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv898953	chr12:29905322-29989292	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv826294	chr12:29934604-29940372	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases
4	esv3400754	chr12:29935710-29938558	Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:29933000-29937800	Active TSS	Aorta	Aorta
2	chr12:29933800-29937800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr12:29934000-29936400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
4	chr12:29934000-29937800	Active TSS	Duodenum Smooth Muscle	Duodenum
5	chr12:29934000-29937800	Active TSS	Fetal Kidney	kidney
6	chr12:29934000-29937800	Active TSS	NHLF	lung
7	chr12:29934000-29938000	Active TSS	Right Ventricle	heart
8	chr12:29934200-29937400	Active TSS	Lung	lung
9	chr12:29934200-29937600	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
10	chr12:29934200-29937600	Active TSS	Rectal Smooth Muscle	rectum
11	chr12:29934200-29937800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr12:29934400-29936400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
13	chr12:29934400-29937600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr12:29934400-29937600	Active TSS	Brain Inferior Temporal Lobe	brain
15	chr12:29934400-29937600	Bivalent/Poised TSS	Thymus	Thymus
16	chr12:29934400-29937800	Active TSS	Brain Anterior Caudate	brain
17	chr12:29934400-29937800	Active TSS	Brain Hippocampus Middle	brain
18	chr12:29934400-29937800	Active TSS	Fetal Brain Female	brain
19	chr12:29934600-29936600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr12:29934600-29937400	Active TSS	Pancreatic Islets	Pancreatic Islet
21	chr12:29934600-29937800	Active TSS	Right Atrium	heart
22	chr12:29934600-29937800	Active TSS	Stomach Smooth Muscle	stomach
23	chr12:29934800-29936600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr12:29934800-29937400	Active TSS	Rectal Mucosa Donor 31	rectum
25	chr12:29934800-29937400	Bivalent/Poised TSS	NHEK	skin
26	chr12:29934800-29937600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr12:29934800-29937600	Active TSS	Brain Cingulate Gyrus	brain
28	chr12:29934800-29937600	Active TSS	Brain Substantia Nigra	brain
29	chr12:29934800-29937800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr12:29934800-29937800	Active TSS	Breast Myoepithelial Primary Cells	Breast
31	chr12:29934800-29937800	Active TSS	Cortex derived primary cultured neurospheres	brain
32	chr12:29934800-29937800	Active TSS	Left Ventricle	heart
33	chr12:29934800-29937800	Active TSS	Ovary	ovary
34	chr12:29934800-29937800	Active TSS	Psoas Muscle	Psoas
35	chr12:29934800-29937800	Active TSS	Skeletal Muscle Male	skeletal muscle
36	chr12:29934800-29937800	Active TSS	HSMM	muscle
37	chr12:29935000-29936400	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
38	chr12:29935000-29936400	Active TSS	GM12878-XiMat	blood
39	chr12:29935000-29937200	Active TSS	Primary monocytes fromperipheralblood	blood
40	chr12:29935000-29937400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
41	chr12:29935000-29937400	Active TSS	HMEC	breast
42	chr12:29935000-29937800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr12:29935000-29937800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr12:29935000-29937800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr12:29935000-29937800	Active TSS	Brain Angular Gyrus	brain
46	chr12:29935000-29937800	Active TSS	Skeletal Muscle Female	skeletal muscle
47	chr12:29935000-29937800	Active TSS	Hela-S3	cervix
48	chr12:29935000-29937800	Active TSS	HSMMtube	muscle
49	chr12:29935200-29936400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
50	chr12:29935200-29936600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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