Variant report

Variant	rs140728063
Chromosome Location	chr12:1702294-1702295
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	POLR2A	chr12:1701544-1703295	GM12891	blood:	n/a	n/a
2	POLR2A	chr12:1701471-1702402	PFSK-1	brain:	n/a	n/a
3	POLR2A	chr12:1701805-1702328	ProgFib	skin:	n/a	n/a
4	MAZ	chr12:1701409-1704769	IMR90	lung:	n/a	chr12:1703239-1703249 chr12:1704066-1704075 chr12:1703785-1703795
5	POU2F2	chr12:1701612-1702361	GM12891	blood:	n/a	chr12:1701621-1701629 chr12:1701754-1701766 chr12:1701618-1701633
6	GATA3	chr12:1702047-1704421	A549	lung:	n/a	n/a
7	UBTF	chr12:1701676-1704682	K562	blood:	n/a	n/a
8	POLR2A	chr12:1701614-1704251	GM12878	blood:	n/a	n/a
9	POU2F2	chr12:1701674-1702430	GM12891	blood:	n/a	chr12:1701754-1701766
10	POLR2A	chr12:1702075-1702433	HepG2	liver:	n/a	n/a
11	POLR2A	chr12:1701802-1704293	MCF-7	breast:	n/a	n/a
12	MAX	chr12:1701918-1704587	A549	lung:	n/a	chr12:1703239-1703249 chr12:1704066-1704075 chr12:1703785-1703795
13	E2F6	chr12:1702288-1703474	H1-hESC	embryonic stem cell:	n/a	chr12:1703266-1703275
14	POLR2A	chr12:1701557-1704680	GM12878	blood:	n/a	n/a
15	ZNF263	chr12:1701547-1703312	HEK293-T-REx	kidney:	n/a	chr12:1703261-1703270 chr12:1703236-1703245 chr12:1701882-1701891
16	MXI1	chr12:1702086-1703169	H1-hESC	embryonic stem cell:	n/a	n/a
17	SIN3A	chr12:1701670-1702303	GM12878	blood:	n/a	chr12:1702014-1702023
18	CHD1	chr12:1701397-1706266	IMR90	lung:	n/a	chr12:1703237-1703247 chr12:1704434-1704444 chr12:1703259-1703269 chr12:1703926-1703936
19	POLR2A	chr12:1701662-1704382	HL-60	blood:	n/a	n/a
20	POLR2A	chr12:1701747-1704350	GM18526	blood:	n/a	n/a
21	POLR2A	chr12:1701585-1703296	GM12892	blood:	n/a	n/a
22	ELF1	chr12:1701648-1704313	GM12878	blood:	n/a	chr12:1703240-1703252 chr12:1703814-1703823 chr12:1703285-1703297
23	POLR2A	chr12:1701590-1702407	GM12892	blood:	n/a	n/a
24	POLR2A	chr12:1701487-1702973	IMR90	lung:	n/a	n/a
25	CHD2	chr12:1701565-1703513	GM12878	blood:	n/a	chr12:1703237-1703247 chr12:1703259-1703269
26	POLR2A	chr12:1701569-1704320	K562	blood:	n/a	n/a
27	CCNT2	chr12:1701679-1704259	K562	blood:	n/a	chr12:1701691-1701700 chr12:1704222-1704231
28	POLR2A	chr12:1701656-1704503	GM19099	blood:	n/a	n/a
29	CTCF	chr12:1702293-1702391	GM12892	blood:	n/a	n/a
30	POLR2A	chr12:1701486-1703512	K562	blood:	n/a	n/a
31	POLR2A	chr12:1702022-1702501	MCF10A-Er-Src	breast:	n/a	n/a
32	SIN3A	chr12:1701627-1704836	H1-hESC	embryonic stem cell:	n/a	chr12:1702014-1702023
33	TAF1	chr12:1701690-1702713	H1-neurons	neurons:	n/a	n/a
34	POLR2A	chr12:1701855-1704255	A549	lung:	n/a	n/a
35	POLR2A	chr12:1701662-1704238	GM12878	blood:	n/a	n/a
36	NFATC1	chr12:1701598-1702621	GM12878	blood:	n/a	n/a
37	POLR2A	chr12:1701556-1704552	GM18505	blood:	n/a	n/a
38	E2F6	chr12:1702057-1704765	K562	blood:	n/a	chr12:1704131-1704140 chr12:1703266-1703275
39	PML	chr12:1701520-1702409	GM12878	blood:	n/a	n/a
40	KAP1	chr12:1701660-1702368	U2OS	brain:	n/a	n/a
41	MXI1	chr12:1701399-1704818	SK-N-SH	brain:	n/a	chr12:1704064-1704079 chr12:1704066-1704081
42	POLR2A	chr12:1701516-1702400	GM12891	blood:	n/a	n/a
43	POLR2A	chr12:1701585-1703308	GM12891	blood:	n/a	n/a
44	STAT5A	chr12:1701605-1702597	GM12878	blood:	n/a	chr12:1701758-1701770
45	MTA3	chr12:1701529-1703319	GM12878	blood:	n/a	n/a
46	POLR2A	chr12:1701586-1704853	H1-neurons	neurons:	n/a	n/a
47	POLR2A	chr12:1701555-1704387	GM19193	blood:	n/a	n/a
48	MAX	chr12:1701764-1703632	MCF-7	breast:	n/a	chr12:1703239-1703249
49	USF2	chr12:1701859-1702382	GM12878	blood:	n/a	n/a
50	MAX	chr12:1701794-1702396	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:547432..549780-chr12:1702241..1704941,2	MCF-7	breast:
2	chr12:1057714..1059446-chr12:1702277..1704204,2	MCF-7	breast:

Variant related genes	Relation type
FBXL14	TF binding region
ENSG00000002016	Chromatin interaction
ENSG00000120647	Chromatin interaction

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	nsv529398	chr12:941915-1741311	Weak transcription Strong transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv1042863	chr12:1163817-1902302	Enhancers Genic enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
3	nsv541345	chr12:1163817-1902302	Strong transcription Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
4	esv3397478	chr12:1535455-1730159	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
5	nsv898584	chr12:1607390-1783251	Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
6	nsv826180	chr12:1614395-1759431	Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
7	nsv826181	chr12:1619798-1754941	Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
8	nsv898586	chr12:1690140-1734365	Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
9	nsv556979	chr12:1700134-1704325	Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
10	esv3438770	chr12:1701716-1704664	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:1699200-1703200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr12:1699400-1703000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
3	chr12:1699400-1703000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
4	chr12:1699400-1703000	Flanking Active TSS	Osteobl	bone
5	chr12:1699600-1703200	Flanking Active TSS	HMEC	breast
6	chr12:1699800-1703000	Transcr. at gene 5' and 3'	Dnd41	blood
7	chr12:1699800-1703200	Flanking Active TSS	HUVEC	blood vessel
8	chr12:1700000-1703200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr12:1700400-1703200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr12:1700400-1703200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
11	chr12:1700600-1702600	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
12	chr12:1700600-1702600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
13	chr12:1700600-1703000	Flanking Active TSS	K562	blood
14	chr12:1700600-1703200	Flanking Active TSS	Primary B cells from cord blood	blood
15	chr12:1700600-1704400	Active TSS	Brain Germinal Matrix	brain
16	chr12:1700800-1702400	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
17	chr12:1700800-1702800	Flanking Active TSS	Fetal Intestine Large	intestine
18	chr12:1700800-1703000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
19	chr12:1700800-1703000	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
20	chr12:1700800-1703000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
21	chr12:1700800-1703000	Transcr. at gene 5' and 3'	Fetal Stomach	stomach
22	chr12:1700800-1704600	Active TSS	Ovary	ovary
23	chr12:1701000-1703000	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
24	chr12:1701000-1704800	Active TSS	Pancreatic Islets	Pancreatic Islet
25	chr12:1701200-1702400	Active TSS	Primary T killer memory cells from peripheral blood	blood
26	chr12:1701200-1702600	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr12:1701200-1703200	Active TSS	Stomach Mucosa	stomach
28	chr12:1701200-1704200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr12:1701400-1702600	Flanking Active TSS	HepG2	liver
30	chr12:1701400-1703000	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
31	chr12:1701400-1703000	Flanking Active TSS	NHEK	skin
32	chr12:1701400-1703200	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
33	chr12:1701400-1703200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
34	chr12:1701600-1702400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
35	chr12:1701600-1702400	Enhancers	Placenta Amnion	Placenta Amnion
36	chr12:1701600-1702600	Transcr. at gene 5' and 3'	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr12:1701600-1702600	Flanking Active TSS	Left Ventricle	heart
38	chr12:1701600-1702600	Flanking Active TSS	Lung	lung
39	chr12:1701600-1702600	Flanking Active TSS	Rectal Smooth Muscle	rectum
40	chr12:1701600-1702600	Flanking Active TSS	A549	lung
41	chr12:1701600-1702800	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr12:1701600-1702800	Flanking Bivalent TSS/Enh	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr12:1701600-1702800	Flanking Active TSS	Esophagus	oesophagus
44	chr12:1701600-1702800	Transcr. at gene 5' and 3'	Fetal Muscle Leg	muscle
45	chr12:1701600-1702800	Flanking Active TSS	Hela-S3	cervix
46	chr12:1701600-1703000	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
47	chr12:1701600-1703000	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr12:1701600-1703000	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
49	chr12:1701600-1703000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr12:1701600-1703000	Flanking Active TSS	Primary B cells from peripheral blood	blood

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