Variant report

Variant	rs562179230
Chromosome Location	chr12:26112180-26112181
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	SIN3AK20	chr12:26111968-26112917	MCF-7	breast:	n/a	n/a
2	EGR1	chr12:26111757-26112586	HCT-116	colon:	n/a	chr12:26112053-26112067 chr12:26111779-26111792 chr12:26112210-26112223 chr12:26112210-26112220
3	HMGN3	chr12:26111256-26112411	K562	blood:	n/a	n/a
4	POLR2A	chr12:26112067-26112329	A549	lung:	n/a	n/a
5	SMC3	chr12:26110022-26114054	SK-N-SH	brain:	n/a	chr12:26111781-26111791
6	CCNT2	chr12:26111238-26112215	K562	blood:	n/a	n/a
7	TCF7L2	chr12:26110930-26112368	HCT-116	colon:	n/a	n/a
8	ZBTB7A	chr12:26111641-26112403	ECC-1	luminal epithelium:	n/a	n/a
9	RAD21	chr12:26110041-26114263	SK-N-SH	brain:	n/a	chr12:26111781-26111791
10	CHD2	chr12:26110731-26113022	Hela-S3	cervix:	n/a	chr12:26111241-26111251
11	UBTF	chr12:26111085-26112300	K562	blood:	n/a	n/a
12	POLR2A	chr12:26111155-26112413	ProgFib	skin:	n/a	n/a
13	CEBPB	chr12:26111874-26112285	IMR90	lung:	n/a	n/a
14	CEBPD	chr12:26111949-26112217	HepG2	liver:	n/a	n/a
15	EGR1	chr12:26111590-26112330	H1-hESC	embryonic stem cell:	n/a	chr12:26112053-26112067 chr12:26111779-26111792 chr12:26112210-26112223 chr12:26111662-26111676 chr12:26112210-26112220 chr12:26111645-26111659
16	POLR2A	chr12:26110664-26112424	HUVEC	blood vessel:	n/a	n/a
17	POLR2A	chr12:26111010-26112908	Hela-S3	cervix:	n/a	n/a
18	TBP	chr12:26112175-26113073	Hela-S3	cervix:	n/a	n/a
19	EGR1	chr12:26111884-26112401	HCT-116	colon:	n/a	chr12:26112053-26112067 chr12:26112210-26112223 chr12:26112210-26112220
20	SIN3AK20	chr12:26111019-26113072	PANC-1	pancreas:	n/a	n/a
21	SMARCC1	chr12:26112076-26113448	Hela-S3	cervix:	n/a	n/a
22	HA-E2F1	chr12:26111201-26112330	Hela-S3	cervix:	n/a	chr12:26111715-26111726 chr12:26111756-26111767
23	MAX	chr12:26110853-26113036	Hela-S3	cervix:	n/a	chr12:26112239-26112249 chr12:26112912-26112920
24	SMARCB1	chr12:26111073-26112790	Hela-S3	cervix:	n/a	n/a
25	POLR2A	chr12:26110826-26113301	HUVEC	blood vessel:	n/a	n/a
26	POLR2A	chr12:26110543-26112977	HUVEC	blood vessel:	n/a	n/a
27	POLR2A	chr12:26111131-26112338	HEK293	kidney:	n/a	n/a
28	CTBP2	chr12:26111692-26112349	H1-hESC	embryonic stem cell:	n/a	n/a
29	SIN3AK20	chr12:26112078-26112507	SK-N-SH	brain:	n/a	n/a
30	CTCF	chr12:26111844-26113535	SK-N-SH	brain:	n/a	n/a
31	RFX5	chr12:26112147-26112883	Hela-S3	cervix:	n/a	n/a
32	MXI1	chr12:26110512-26114891	SK-N-SH	brain:	n/a	n/a
33	MAZ	chr12:26110601-26113503	IMR90	lung:	n/a	chr12:26112239-26112249 chr12:26110615-26110625 chr12:26112912-26112920
34	EGR1	chr12:26111976-26112323	MCF-7	breast:	n/a	chr12:26112053-26112067 chr12:26112210-26112223 chr12:26112210-26112220
35	POLR2A	chr12:26110804-26113064	Hela-S3	cervix:	n/a	n/a
36	MAX	chr12:26110926-26112569	A549	lung:	n/a	chr12:26112239-26112249
37	CREB1	chr12:26111109-26112471	A549	lung:	n/a	n/a
38	E2F6	chr12:26111177-26112304	K562	blood:	n/a	chr12:26111755-26111766
39	POLR2A	chr12:26111988-26112369	H1-hESC	embryonic stem cell:	n/a	n/a
40	POLR2A	chr12:26112072-26112473	H1-neurons	neurons:	n/a	n/a
41	TCF7L2	chr12:26112176-26113401	Hela-S3	cervix:	n/a	chr12:26113179-26113193 chr12:26113182-26113191
42	TFAP2A	chr12:26110960-26112452	Hela-S3	cervix:	n/a	chr12:26111185-26111199 chr12:26111188-26111196 chr12:26111188-26111196 chr12:26111188-26111196 chr12:26112226-26112238 chr12:26111187-26111202 chr12:26111260-26111272 chr12:26111338-26111346
43	POLR2A	chr12:26112135-26112229	MCF-7	breast:	n/a	n/a
44	POLR2A	chr12:26110921-26112511	HUVEC	blood vessel:	n/a	n/a
45	POLR2A	chr12:26111971-26112473	PANC-1	pancreas:	n/a	n/a
46	HA-E2F1	chr12:26110977-26112796	MCF-7	breast:	n/a	chr12:26111715-26111726 chr12:26111073-26111082 chr12:26111756-26111767
47	EGR1	chr12:26111956-26112190	GM12878	blood:	n/a	chr12:26112053-26112067
48	EGR1	chr12:26111934-26112477	ECC-1	luminal epithelium:	n/a	chr12:26112053-26112067 chr12:26112210-26112223 chr12:26112210-26112220
49	POLR2A	chr12:26112012-26112349	HepG2	liver:	n/a	n/a
50	POLR2A	chr12:26110095-26114059	IMR90	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:25986954..25988487-chr12:26111623..26114201,2	MCF-7	breast:

Variant related genes	Relation type
RASSF8-AS1	TF binding region
ENSG00000256440	Chromatin interaction

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

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758300	chr12:25992331-26161116	Enhancers Weak transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	38 gene(s)	inside rSNPs	diseases
2	esv2759886	chr12:25992331-26161116	Enhancers Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	38 gene(s)	inside rSNPs	diseases
3	esv17456	chr12:26108846-26114910	Active TSS Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
4	esv3337985	chr12:26109585-26113883	Flanking Bivalent TSS/Enh Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
5	esv3385039	chr12:26110185-26113083	Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
6	esv3323230	chr12:26110310-26112858	Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
7	esv3366350	chr12:26110485-26113208	Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
8	esv3405562	chr12:26110910-26113458	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:26110000-26113600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr12:26110200-26112800	Active TSS	HUES48 Cell Line	embryonic stem cell
3	chr12:26110200-26113400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
4	chr12:26110200-26115200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr12:26110400-26113200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr12:26110400-26113200	Active TSS	Fetal Muscle Trunk	muscle
7	chr12:26110400-26113400	Active TSS	ES-I3 Cell Line	embryonic stem cell
8	chr12:26110400-26113400	Active TSS	iPS-15b Cell Line	embryonic stem cell
9	chr12:26110400-26113400	Active TSS	Fetal Kidney	kidney
10	chr12:26110400-26113600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr12:26110400-26114000	Active TSS	Pancreatic Islets	Pancreatic Islet
12	chr12:26110400-26114400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr12:26110600-26112200	Active TSS	Rectal Mucosa Donor 29	rectum
14	chr12:26110600-26112400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr12:26110600-26112600	Active TSS	Fetal Brain Female	brain
16	chr12:26110600-26112800	Active TSS	H1 Cell Line	embryonic stem cell
17	chr12:26110600-26112800	Active TSS	iPS-18 Cell Line	embryonic stem cell
18	chr12:26110600-26112800	Active TSS	Brain Cingulate Gyrus	brain
19	chr12:26110600-26112800	Active TSS	Fetal Intestine Small	intestine
20	chr12:26110600-26112800	Active TSS	Fetal Stomach	stomach
21	chr12:26110600-26112800	Active TSS	Skeletal Muscle Male	skeletal muscle
22	chr12:26110600-26112800	Active TSS	HSMMtube	muscle
23	chr12:26110600-26112800	Active TSS	NH-A	brain
24	chr12:26110600-26113000	Active TSS	iPS-20b Cell Line	embryonic stem cell
25	chr12:26110600-26113000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr12:26110600-26113000	Active TSS	Brain Substantia Nigra	brain
27	chr12:26110600-26113200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr12:26110600-26113200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr12:26110600-26113200	Active TSS	Fetal Lung	lung
30	chr12:26110600-26113200	Active TSS	Left Ventricle	heart
31	chr12:26110600-26113200	Active TSS	HSMM	muscle
32	chr12:26110600-26113400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr12:26110600-26113400	Active TSS	H9 Cell Line	embryonic stem cell
34	chr12:26110600-26113400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr12:26110600-26113400	Active TSS	Breast Myoepithelial Primary Cells	Breast
36	chr12:26110600-26113400	Active TSS	Aorta	Aorta
37	chr12:26110600-26113400	Active TSS	Brain Angular Gyrus	brain
38	chr12:26110600-26113600	Active TSS	Brain Inferior Temporal Lobe	brain
39	chr12:26110600-26113600	Active TSS	Duodenum Smooth Muscle	Duodenum
40	chr12:26110600-26113600	Active TSS	Rectal Smooth Muscle	rectum
41	chr12:26110600-26113600	Active TSS	NHDF-Ad	bronchial
42	chr12:26110600-26113800	Active TSS	Right Ventricle	heart
43	chr12:26110600-26114000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr12:26110600-26114000	Active TSS	Right Atrium	heart
45	chr12:26110800-26112200	Active TSS	Primary T cells from cord blood	blood
46	chr12:26110800-26112200	Active TSS	Cortex derived primary cultured neurospheres	brain
47	chr12:26110800-26112200	Active TSS	Brain Germinal Matrix	brain
48	chr12:26110800-26112200	Active TSS	Small Intestine	intestine
49	chr12:26110800-26112200	Bivalent/Poised TSS	Monocytes-CD14+_RO01746	blood
50	chr12:26110800-26112600	Active TSS	Duodenum Mucosa	Duodenum

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