Variant report

Variant	rs558977671
Chromosome Location	chr12:1704218-1704219
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	POLR2A	chr12:1703311-1704323	K562	blood:	n/a	n/a
2	ZMIZ1	chr12:1703763-1704271	K562	blood:	n/a	n/a
3	BHLHE40	chr12:1703541-1704274	HepG2	liver:	n/a	chr12:1703756-1703772 chr12:1703860-1703876 chr12:1703887-1703903
4	CTCF	chr12:1704160-1704310	AG04450	lung:	n/a	n/a
5	POLR2A	chr12:1703298-1704227	IMR90	lung:	n/a	n/a
6	USF1	chr12:1703875-1704416	HCT-116	colon:	n/a	chr12:1703887-1703903
7	IRF1	chr12:1703792-1704224	K562	blood:	n/a	n/a
8	POLR2A	chr12:1702979-1704298	HUVEC	blood vessel:	n/a	n/a
9	CTCF	chr12:1704120-1704270	AG09319	gingival:	n/a	n/a
10	RCOR1	chr12:1703405-1704727	K562	blood:	n/a	n/a
11	MAZ	chr12:1703066-1704776	K562	blood:	n/a	chr12:1703239-1703249 chr12:1704066-1704075 chr12:1703785-1703795
12	POLR2A	chr12:1703830-1704288	SK-N-SH	brain:	n/a	n/a
13	MAZ	chr12:1701409-1704769	IMR90	lung:	n/a	chr12:1703239-1703249 chr12:1704066-1704075 chr12:1703785-1703795
14	ZNF143	chr12:1703782-1704272	GM12878	blood:	n/a	chr12:1703866-1703876
15	GATA3	chr12:1702047-1704421	A549	lung:	n/a	n/a
16	UBTF	chr12:1701676-1704682	K562	blood:	n/a	n/a
17	ZKSCAN1	chr12:1703943-1704310	Hela-S3	cervix:	n/a	n/a
18	POLR2A	chr12:1701614-1704251	GM12878	blood:	n/a	n/a
19	POLR2A	chr12:1703678-1704373	GM12892	blood:	n/a	n/a
20	IRF1	chr12:1703918-1704228	K562	blood:	n/a	n/a
21	HCFC1	chr12:1703269-1704249	K562	blood:	n/a	n/a
22	JUND	chr12:1703379-1704339	K562	blood:	n/a	n/a
23	POLR2A	chr12:1701802-1704293	MCF-7	breast:	n/a	n/a
24	MAX	chr12:1702649-1704355	NB4	blood:	n/a	chr12:1703239-1703249 chr12:1704066-1704075 chr12:1703785-1703795
25	CTCF	chr12:1704200-1704350	BE2_C	brain:	n/a	n/a
26	MAZ	chr12:1702673-1704275	Hela-S3	cervix:	n/a	chr12:1703239-1703249 chr12:1704066-1704075 chr12:1703785-1703795
27	USF1	chr12:1703970-1704300	SK-N-SH	brain:	n/a	n/a
28	POLR2A	chr12:1703055-1704342	HUVEC	blood vessel:	n/a	n/a
29	MAX	chr12:1703844-1704437	SK-N-SH	brain:	n/a	chr12:1704066-1704075
30	MAX	chr12:1703980-1704285	K562	blood:	n/a	chr12:1704066-1704075
31	TBP	chr12:1703363-1704374	K562	blood:	n/a	n/a
32	MAX	chr12:1701918-1704587	A549	lung:	n/a	chr12:1703239-1703249 chr12:1704066-1704075 chr12:1703785-1703795
33	HDAC2	chr12:1704012-1704258	K562	blood:	n/a	chr12:1704233-1704247
34	E2F6	chr12:1703801-1704283	K562	blood:	n/a	chr12:1704131-1704140
35	GTF2F1	chr12:1703961-1704262	Hela-S3	cervix:	n/a	n/a
36	RFX5	chr12:1703941-1704248	Hela-S3	cervix:	n/a	chr12:1704065-1704080 chr12:1704065-1704080 chr12:1704065-1704080 chr12:1704065-1704078 chr12:1704064-1704081
37	SREBP1	chr12:1703347-1704797	GM12878	blood:	n/a	chr12:1704368-1704379 chr12:1704065-1704079 chr12:1704066-1704080
38	BACH1	chr12:1704012-1704359	H1-hESC	embryonic stem cell:	n/a	n/a
39	MAX	chr12:1703648-1704248	A549	lung:	n/a	chr12:1704066-1704075 chr12:1703785-1703795
40	PAX5	chr12:1703273-1704225	GM12892	blood:	n/a	n/a
41	CTCF	chr12:1704160-1704310	HCM	heart:	n/a	n/a
42	BCLAF1	chr12:1703961-1704290	GM12878	blood:	n/a	n/a
43	POLR2A	chr12:1701557-1704680	GM12878	blood:	n/a	n/a
44	REST	chr12:1704105-1704328	A549	lung:	n/a	n/a
45	HDAC2	chr12:1703938-1704239	H1-hESC	embryonic stem cell:	n/a	n/a
46	CTCF	chr12:1704118-1704218	GM19240	blood:	n/a	n/a
47	USF2	chr12:1703907-1704304	GM12878	blood:	n/a	n/a
48	YY1	chr12:1702764-1704244	GM12892	blood:	n/a	chr12:1703253-1703264 chr12:1703269-1703283 chr12:1703885-1703894 chr12:1704220-1704231 chr12:1703865-1703879 chr12:1703263-1703277
49	POLR2A	chr12:1703128-1704506	HUVEC	blood vessel:	n/a	n/a
50	HDAC2	chr12:1703848-1704257	HepG2	liver:	n/a	chr12:1704233-1704247

No.	Distal block	Cell Line	Cell type
1	chr12:1224466..1226137-chr12:1702484..1704918,2	MCF-7	breast:
2	chr12:1700363..1702369-chr12:1703399..1707703,4	K562	blood:
3	chr12:1703565..1707939-chr12:1709383..1712701,6	MCF-7	breast:
4	chr12:1703157..1705505-chr12:1739226..1741204,2	MCF-7	breast:
5	chr12:547432..549780-chr12:1702241..1704941,2	MCF-7	breast:
6	chr12:1703685..1705372-chr12:1898619..1900530,2	K562	blood:
7	chr12:1703426..1704364-chr18:71959175..71959778,2	NB4	blood:

Variant related genes	Relation type
FBXL14	TF binding region
ENSG00000166347	Chromatin interaction
ENSG00000082805	Chromatin interaction
ENSG00000171823	Chromatin interaction
ENSG00000120647	Chromatin interaction
ENSG00000111186	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:25 , 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
11	esv1793457	chr12:1702470-1704325	Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
12	esv1793746	chr12:1702470-1704325	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
13	esv1799354	chr12:1702470-1704325	Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
14	esv1820484	chr12:1702470-1704325	Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
15	esv1834585	chr12:1702470-1704325	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
16	esv1836763	chr12:1702470-1704325	Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
17	esv1837561	chr12:1702470-1704325	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
18	esv1839669	chr12:1702470-1704325	Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
19	esv1844404	chr12:1702470-1704325	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
20	nsv556985	chr12:1702470-1704325	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
21	nsv556986	chr12:1702470-1705852	Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
22	esv18273	chr12:1702491-1704405	Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
23	esv3403028	chr12:1702616-1704989	Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
24	nsv556993	chr12:1703070-1704325	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
25	esv1834423	chr12:1703324-1727170	Active TSS Weak transcription Genic enhancers Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	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	chr12:1700600-1704400	Active TSS	Brain Germinal Matrix	brain
2	chr12:1700800-1704600	Active TSS	Ovary	ovary
3	chr12:1701000-1704800	Active TSS	Pancreatic Islets	Pancreatic Islet
4	chr12:1701800-1704400	Active TSS	Fetal Kidney	kidney
5	chr12:1701800-1704600	Active TSS	Small Intestine	intestine
6	chr12:1702400-1704400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
7	chr12:1702400-1705000	Active TSS	Right Atrium	heart
8	chr12:1702600-1704400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr12:1702600-1704400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
10	chr12:1702600-1704400	Active TSS	Primary T cells from cord blood	blood
11	chr12:1702600-1704400	Active TSS	Brain Angular Gyrus	brain
12	chr12:1702600-1704400	Active TSS	Brain Anterior Caudate	brain
13	chr12:1702600-1704400	Active TSS	Colon Smooth Muscle	Colon
14	chr12:1702600-1704400	Active TSS	Lung	lung
15	chr12:1702600-1704400	Active TSS	Thymus	Thymus
16	chr12:1702600-1704400	Active TSS	A549	lung
17	chr12:1702600-1704600	Active TSS	Duodenum Smooth Muscle	Duodenum
18	chr12:1702600-1704600	Active TSS	Fetal Brain Female	brain
19	chr12:1702600-1704600	Active TSS	Left Ventricle	heart
20	chr12:1702600-1704600	Active TSS	Psoas Muscle	Psoas
21	chr12:1702600-1705200	Active TSS	Aorta	Aorta
22	chr12:1702800-1704400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr12:1702800-1704400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
24	chr12:1702800-1704400	Active TSS	Fetal Intestine Small	intestine
25	chr12:1702800-1704400	Active TSS	Sigmoid Colon	Sigmoid Colon
26	chr12:1702800-1704600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr12:1702800-1704600	Active TSS	Brain Substantia Nigra	brain
28	chr12:1702800-1704600	Active TSS	Esophagus	oesophagus
29	chr12:1702800-1705000	Active TSS	HSMMtube	muscle
30	chr12:1703000-1704400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr12:1703000-1704400	Active TSS	H9 Cell Line	embryonic stem cell
32	chr12:1703000-1704400	Active TSS	HUES48 Cell Line	embryonic stem cell
33	chr12:1703000-1704400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr12:1703000-1704400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr12:1703000-1704400	Active TSS	Brain Inferior Temporal Lobe	brain
36	chr12:1703000-1704400	Active TSS	Duodenum Mucosa	Duodenum
37	chr12:1703000-1704400	Active TSS	Fetal Adrenal Gland	Adrenal Gland
38	chr12:1703000-1704400	Active TSS	Fetal Stomach	stomach
39	chr12:1703000-1704400	Active TSS	Gastric	stomach
40	chr12:1703000-1704600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr12:1703000-1704600	Active TSS	Brain Hippocampus Middle	brain
42	chr12:1703000-1704600	Active TSS	Pancreas	Pancrea
43	chr12:1703000-1704600	Active TSS	Right Ventricle	heart
44	chr12:1703000-1704600	Active TSS	K562	blood
45	chr12:1703200-1704400	Active TSS	iPS-15b Cell Line	embryonic stem cell
46	chr12:1703200-1704400	Active TSS	Fetal Lung	lung
47	chr12:1703200-1704400	Active TSS	Placenta Amnion	Placenta Amnion
48	chr12:1703200-1704600	Active TSS	HUES6 Cell Line	embryonic stem cell
49	chr12:1703200-1704600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr12:1703200-1704600	Active TSS	Fetal Muscle Trunk	muscle

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