Variant report

Variant	rs141579938
Chromosome Location	chr12:26110978-26110979
allele	-/TTTC
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	chr12:26110872-26111111	MCF10A-Er-Src	breast:	n/a	n/a
2	SMC3	chr12:26110849-26111757	Hela-S3	cervix:	n/a	n/a
3	TCF7L2	chr12:26110958-26111641	PANC-1	pancreas:	n/a	n/a
4	TAF1	chr12:26110836-26111194	Hela-S3	cervix:	n/a	n/a
5	SMC3	chr12:26110022-26114054	SK-N-SH	brain:	n/a	chr12:26111781-26111791
6	FOS	chr12:26110780-26111197	MCF10A-Er-Src	breast:	n/a	chr12:26110884-26110893 chr12:26110941-26110952
7	TCF7L2	chr12:26110930-26112368	HCT-116	colon:	n/a	n/a
8	RAD21	chr12:26110968-26111730	ECC-1	luminal epithelium:	n/a	n/a
9	POLR2A	chr12:26110747-26111817	U87	brain:	n/a	n/a
10	STAT3	chr12:26110922-26111092	MCF10A-Er-Src	breast:	n/a	n/a
11	PBX3	chr12:26110721-26111508	SK-N-SH	brain:	n/a	n/a
12	POLR2A	chr12:26110848-26111953	PANC-1	pancreas:	n/a	n/a
13	FOS	chr12:26110934-26111068	MCF10A-Er-Src	breast:	n/a	chr12:26110941-26110952
14	RAD21	chr12:26110041-26114263	SK-N-SH	brain:	n/a	chr12:26111781-26111791
15	CHD2	chr12:26110731-26113022	Hela-S3	cervix:	n/a	chr12:26111241-26111251
16	MAX	chr12:26110966-26111980	HepG2	liver:	n/a	n/a
17	GATA3	chr12:26110587-26111322	SK-N-SH	brain:	n/a	chr12:26110670-26110679
18	STAT3	chr12:26110934-26111099	MCF10A-Er-Src	breast:	n/a	n/a
19	TCF12	chr12:26110510-26111710	SK-N-SH	brain:	n/a	n/a
20	TBP	chr12:26110915-26111155	Hela-S3	cervix:	n/a	n/a
21	POLR2A	chr12:26110664-26112424	HUVEC	blood vessel:	n/a	n/a
22	SIN3AK20	chr12:26110858-26111550	SK-N-SH	brain:	n/a	n/a
23	JUND	chr12:26110936-26111409	H1-hESC	embryonic stem cell:	n/a	n/a
24	NFIC	chr12:26110933-26111490	ECC-1	luminal epithelium:	n/a	n/a
25	MAX	chr12:26110853-26113036	Hela-S3	cervix:	n/a	chr12:26112239-26112249 chr12:26112912-26112920
26	POLR2A	chr12:26110826-26113301	HUVEC	blood vessel:	n/a	n/a
27	POLR2A	chr12:26110425-26111443	U87	brain:	n/a	n/a
28	POLR2A	chr12:26110543-26112977	HUVEC	blood vessel:	n/a	n/a
29	STAT3	chr12:26110931-26111008	MCF10A-Er-Src	breast:	n/a	n/a
30	POLR2A	chr12:26110670-26111527	SK-N-SH	brain:	n/a	n/a
31	MXI1	chr12:26110512-26114891	SK-N-SH	brain:	n/a	n/a
32	FOS	chr12:26110722-26111235	HUVEC	blood vessel:	n/a	chr12:26110884-26110893 chr12:26110941-26110952
33	MAZ	chr12:26110601-26113503	IMR90	lung:	n/a	chr12:26112239-26112249 chr12:26110615-26110625 chr12:26112912-26112920
34	POLR2A	chr12:26110804-26113064	Hela-S3	cervix:	n/a	n/a
35	FOSL2	chr12:26110657-26111329	SK-N-SH	brain:	n/a	chr12:26110884-26110893
36	MAX	chr12:26110926-26112569	A549	lung:	n/a	chr12:26112239-26112249
37	RAD21	chr12:26110805-26111201	SK-N-SH_RA	brain:	n/a	n/a
38	SIN3AK20	chr12:26110814-26111291	PFSK-1	brain:	n/a	n/a
39	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
40	POLR2A	chr12:26110921-26112511	HUVEC	blood vessel:	n/a	n/a
41	HA-E2F1	chr12:26110977-26112796	MCF-7	breast:	n/a	chr12:26111715-26111726 chr12:26111073-26111082 chr12:26111756-26111767
42	MAX	chr12:26110940-26111485	H1-hESC	embryonic stem cell:	n/a	n/a
43	GATA2	chr12:26110546-26111227	HUVEC	blood vessel:	n/a	chr12:26110670-26110679
44	RCOR1	chr12:26110787-26111541	Hela-S3	cervix:	n/a	n/a
45	RFX5	chr12:26110788-26111501	Hela-S3	cervix:	n/a	n/a
46	TAF1	chr12:26110897-26111555	SK-N-SH	brain:	n/a	n/a
47	FOS	chr12:26110765-26111167	MCF10A-Er-Src	breast:	n/a	chr12:26110884-26110893 chr12:26110941-26110952
48	CHD2	chr12:26110923-26111653	H1-hESC	embryonic stem cell:	n/a	chr12:26111241-26111251
49	POLR2A	chr12:26110095-26114059	IMR90	lung:	n/a	n/a
50	EP300	chr12:26110547-26112446	SK-N-SH	brain:	n/a	chr12:26110571-26110585 chr12:26111523-26111539 chr12:26111625-26111641

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-BHLHE41-2	chr12:26110952-26111511	ENSG00000246695
2	lnc-BHLHE41-2	chr12:26110952-26110979	ENSG00000246695
3	lnc-BHLHE41-2	chr12:26110952-26111496	NONHSAT027366
4	lnc-BHLHE41-2	chr12:26110952-26111408	NONHSAT027374
5	lnc-BHLHE41-2	chr12:26110952-26111426	NONHSAT027381
6	lnc-BHLHE41-2	chr12:26110952-26111426	NONHSAT027382
7	lnc-BHLHE41-2	chr12:26110952-26111483	NONHSAT027384
8	lnc-BHLHE41-2	chr12:26110952-26111408	NONHSAT140062
9	lnc-BHLHE41-2	chr12:26110952-26111030	NONHSAT027371

Variant related genes	Relation type
RASSF8-AS1	TF binding region
RASSF8	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	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	nsv557802	chr12:26093161-26112158	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
4	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
5	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
6	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
7	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
8	esv1840315	chr12:26110484-26112134	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
9	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
10	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:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:26095800-26111000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr12:26110000-26111000	Flanking Active TSS	Hela-S3	cervix
3	chr12:26110000-26113600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr12:26110200-26111000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr12:26110200-26111000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr12:26110200-26111000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr12:26110200-26112800	Active TSS	HUES48 Cell Line	embryonic stem cell
8	chr12:26110200-26113400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
9	chr12:26110200-26115200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr12:26110400-26111000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr12:26110400-26111000	Flanking Active TSS	HUVEC	blood vessel
12	chr12:26110400-26113200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr12:26110400-26113200	Active TSS	Fetal Muscle Trunk	muscle
14	chr12:26110400-26113400	Active TSS	ES-I3 Cell Line	embryonic stem cell
15	chr12:26110400-26113400	Active TSS	iPS-15b Cell Line	embryonic stem cell
16	chr12:26110400-26113400	Active TSS	Fetal Kidney	kidney
17	chr12:26110400-26113600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr12:26110400-26114000	Active TSS	Pancreatic Islets	Pancreatic Islet
19	chr12:26110400-26114400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr12:26110600-26111000	Flanking Active TSS	Stomach Smooth Muscle	stomach
21	chr12:26110600-26111000	Flanking Active TSS	A549	lung
22	chr12:26110600-26111200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr12:26110600-26111200	Flanking Active TSS	Adipose Nuclei	Adipose
24	chr12:26110600-26111200	Flanking Active TSS	Liver	Liver
25	chr12:26110600-26111200	Flanking Active TSS	Fetal Muscle Leg	muscle
26	chr12:26110600-26111200	Flanking Active TSS	NHEK	skin
27	chr12:26110600-26111400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
28	chr12:26110600-26112200	Active TSS	Rectal Mucosa Donor 29	rectum
29	chr12:26110600-26112400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr12:26110600-26112600	Active TSS	Fetal Brain Female	brain
31	chr12:26110600-26112800	Active TSS	H1 Cell Line	embryonic stem cell
32	chr12:26110600-26112800	Active TSS	iPS-18 Cell Line	embryonic stem cell
33	chr12:26110600-26112800	Active TSS	Brain Cingulate Gyrus	brain
34	chr12:26110600-26112800	Active TSS	Fetal Intestine Small	intestine
35	chr12:26110600-26112800	Active TSS	Fetal Stomach	stomach
36	chr12:26110600-26112800	Active TSS	Skeletal Muscle Male	skeletal muscle
37	chr12:26110600-26112800	Active TSS	HSMMtube	muscle
38	chr12:26110600-26112800	Active TSS	NH-A	brain
39	chr12:26110600-26113000	Active TSS	iPS-20b Cell Line	embryonic stem cell
40	chr12:26110600-26113000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr12:26110600-26113000	Active TSS	Brain Substantia Nigra	brain
42	chr12:26110600-26113200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr12:26110600-26113200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr12:26110600-26113200	Active TSS	Fetal Lung	lung
45	chr12:26110600-26113200	Active TSS	Left Ventricle	heart
46	chr12:26110600-26113200	Active TSS	HSMM	muscle
47	chr12:26110600-26113400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr12:26110600-26113400	Active TSS	H9 Cell Line	embryonic stem cell
49	chr12:26110600-26113400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr12:26110600-26113400	Active TSS	Breast Myoepithelial Primary Cells	Breast

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