Variant report

Variant	rs142488934
Chromosome Location	chr1:84543163-84543164
allele	G/T
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	GABPA	chr1:84543042-84543882	SK-N-SH	brain:	n/a	n/a
2	ETS1	chr1:84543144-84543619	K562	blood:	n/a	chr1:84543482-84543495 chr1:84543601-84543612
3	HEY1	chr1:84543060-84543700	K562	blood:	n/a	chr1:84543529-84543544 chr1:84543640-84543655
4	POLR2A	chr1:84543032-84543968	HCT-116	colon:	n/a	n/a
5	POLR2A	chr1:84543051-84544048	ECC-1	luminal epithelium:	n/a	n/a
6	MAX	chr1:84542943-84543742	SK-N-SH	brain:	n/a	chr1:84543151-84543161 chr1:84543360-84543369
7	POLR2A	chr1:84543024-84544026	GM12891	blood:	n/a	n/a
8	RAD21	chr1:84543103-84543565	Hela-S3	cervix:	n/a	n/a
9	GABPA	chr1:84543094-84544099	K562	blood:	n/a	n/a
10	POLR2A	chr1:84542986-84544447	Hela-S3	cervix:	n/a	n/a
11	BCLAF1	chr1:84543128-84543608	GM12878	blood:	n/a	chr1:84543570-84543579
12	HEY1	chr1:84543045-84543875	HepG2	liver:	n/a	chr1:84543529-84543544 chr1:84543640-84543655
13	MAX	chr1:84543002-84544430	K562	blood:	n/a	chr1:84543151-84543161 chr1:84543360-84543369 chr1:84544133-84544143
14	BACH1	chr1:84543125-84543656	H1-hESC	embryonic stem cell:	n/a	n/a
15	POLR2A	chr1:84543116-84543863	K562	blood:	n/a	n/a
16	MYC	chr1:84543058-84543191	K562	blood:	n/a	chr1:84543151-84543161
17	MYC	chr1:84543092-84543631	HepG2	liver:	n/a	chr1:84543151-84543161 chr1:84543360-84543369
18	POLR2A	chr1:84543085-84543668	GM12891	blood:	n/a	n/a
19	TAF1	chr1:84543113-84543852	K562	blood:	n/a	n/a
20	MAX	chr1:84542945-84544346	NB4	blood:	n/a	chr1:84543151-84543161 chr1:84543360-84543369 chr1:84544133-84544143
21	GTF2F1	chr1:84543035-84543694	K562	blood:	n/a	n/a
22	MYC	chr1:84542974-84543827	MCF10A-Er-Src	breast:	n/a	chr1:84543151-84543161 chr1:84543360-84543369
23	MAFK	chr1:84543117-84543475	HepG2	liver:	n/a	n/a
24	RAD21	chr1:84543056-84543546	IMR90	lung:	n/a	n/a
25	POLR2A	chr1:84543116-84543603	GM12892	blood:	n/a	n/a
26	HCFC1	chr1:84542987-84543859	K562	blood:	n/a	n/a
27	POLR2A	chr1:84543146-84543988	HepG2	liver:	n/a	n/a
28	ETS1	chr1:84543120-84543892	K562	blood:	n/a	chr1:84543482-84543495 chr1:84543635-84543644 chr1:84543637-84543646 chr1:84543635-84543644 chr1:84543635-84543651 chr1:84543635-84543644 chr1:84543635-84543644 chr1:84543633-84543643 chr1:84543635-84543644 chr1:84543601-84543612 chr1:84543634-84543647
29	ZBTB7A	chr1:84543051-84544273	ECC-1	luminal epithelium:	n/a	n/a
30	MXI1	chr1:84543005-84544827	IMR90	lung:	n/a	n/a
31	ELF1	chr1:84543055-84544451	GM12878	blood:	n/a	chr1:84544159-84544171 chr1:84543570-84543582 chr1:84543604-84543616
32	CTCF	chr1:84543120-84543270	HVMF	connective:	n/a	n/a
33	HMGN3	chr1:84543146-84544289	K562	blood:	n/a	n/a
34	POLR2A	chr1:84543145-84544121	MCF-7	breast:	n/a	n/a
35	RAD21	chr1:84543078-84543809	SK-N-SH_RA	brain:	n/a	chr1:84543583-84543595
36	POLR2A	chr1:84543092-84543725	HUVEC	blood vessel:	n/a	n/a
37	HA-E2F1	chr1:84543137-84544263	Hela-S3	cervix:	n/a	chr1:84544092-84544101 chr1:84543706-84543715 chr1:84543605-84543614 chr1:84543861-84543872
38	MXI1	chr1:84541895-84545296	SK-N-SH	brain:	n/a	n/a
39	MYC	chr1:84542965-84543931	NB4	blood:	n/a	chr1:84543151-84543161 chr1:84543360-84543369
40	POLR2A	chr1:84543102-84544159	HEK293	kidney:	n/a	n/a
41	GTF2F1	chr1:84543029-84543617	Hela-S3	cervix:	n/a	n/a
42	MAX	chr1:84543041-84544089	HepG2	liver:	n/a	chr1:84543151-84543161 chr1:84543360-84543369
43	POLR2A	chr1:84543018-84543953	K562	blood:	n/a	n/a
44	MTA3	chr1:84542951-84543714	GM12878	blood:	n/a	n/a
45	MXI1	chr1:84543048-84544534	HepG2	liver:	n/a	n/a
46	POLR2A	chr1:84543072-84544196	GM12878	blood:	n/a	n/a
47	CTCF	chr1:84543100-84543250	NHDF-neo	bronchial:	n/a	n/a
48	BHLHE40	chr1:84543122-84543669	K562	blood:	n/a	n/a
49	RFX5	chr1:84542856-84544256	Hela-S3	cervix:	n/a	n/a
50	MYC	chr1:84542463-84543380	MCF10A-Er-Src	breast:	n/a	chr1:84543151-84543161 chr1:84543360-84543369

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:84543156-84543206	NT2-D1	testis:	n/a
2	chr1:84543156-84543206	GM19239	blood:	n/a
3	chr1:84543156-84543206	HCM	heart:	n/a
4	chr1:84543156-84543206	SK-N-SH_RA	brain:	n/a
5	chr1:84543156-84543206	Caco-2	colon:	n/a
6	chr1:84543156-84543206	NHDF-neo	bronchial:	n/a
7	chr1:84543156-84543206	AG10803	skin:	n/a
8	chr1:84543156-84543206	GM12878	blood:	n/a
9	chr1:84543156-84543206	MCF10A-Er-Src	breast:	n/a
10	chr1:84543156-84543206	HEK293	kidney:	embryo
11	chr1:84543156-84543206	GM12892	blood:	n/a
12	chr1:84543156-84543206	CMK	blood:	n/a
13	chr1:84543156-84543206	NHBE	bronchial:	n/a
14	chr1:84543156-84543206	MCF-7	breast:	n/a
15	chr1:84543156-84543206	AG09309	skin:	n/a
16	chr1:84543156-84543206	RPTEC	kidney:	n/a
17	chr1:84543156-84543206	HL-60	blood:	n/a
18	chr1:84543156-84543206	HRE	kidney:	n/a
19	chr1:84543156-84543206	K562	blood:	n/a
20	chr1:84543156-84543206	GM12891	blood:	n/a
21	chr1:84543156-84543206	AG04449	skin:	fetal
22	chr1:84543156-84543206	HPAEpiC	pulmonary alveolar:	n/a
23	chr1:84543156-84543206	HepG2	liver:	n/a
24	chr1:84543156-84543206	HIPEpiC	eye:	n/a
25	chr1:84543156-84543206	Jurkat	blood:	n/a
26	chr1:84543156-84543206	HMEC	breast:	n/a
27	chr1:84543156-84543206	HRPEpiC	eye:	n/a
28	chr1:84543156-84543206	HCF	heart:	n/a
29	chr1:84543156-84543206	GM06990	blood:	n/a
30	chr1:84543156-84543206	LNCaP	prostate:	n/a
31	chr1:84543156-84543206	U87	brain:	n/a
32	chr1:84543156-84543206	BJ	skin:	n/a
33	chr1:84543156-84543206	HEEpiC	esophagus:	n/a
34	chr1:84543156-84543206	SKMC	muscle:	n/a
35	chr1:84543156-84543206	Hepatocyte	liver:	n/a
36	chr1:84543156-84543206	NB4	blood:	n/a
37	chr1:84543156-84543206	AoSMC	blood vessel:	n/a
38	chr1:84543156-84543206	HUVEC	blood vessel:	n/a
39	chr1:84543156-84543206	Hela-S3	cervix:	n/a
40	chr1:84543156-84543206	NH-A	brain:	n/a
41	chr1:84543156-84543206	ovcar-3	ovarian:	n/a
42	chr1:84543156-84543206	SK-N-MC	brain:	n/a
43	chr1:84543156-84543206	ProgFib	skin:	n/a
44	chr1:84543156-84543206	PANC-1	pancreas:	n/a
45	chr1:84543156-84543206	PFSK-1	brain:	n/a
46	chr1:84543156-84543206	A549	lung:	n/a
47	chr1:84543156-84543206	IMR90	lung:	fetal
48	chr1:84543156-84543206	HAEpiC	amniotic membrane:	n/a
49	chr1:84543156-84543206	HCT-116	colon:	n/a
50	chr1:84543156-84543206	SK-N-SH	brain:	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:84463410..84466364-chr1:84542152..84546505,5	K562	blood:
2	chr1:84543103..84544767-chr1:84969541..84972530,2	K562	blood:
3	chr1:84542242..84543745-chr1:85154770..85157524,2	K562	blood:
4	chr1:84542977..84543701-chr9:140135375..140136244,2	Hela-S3	cervix:
5	chr1:84387778..84389882-chr1:84541236..84543359,2	K562	blood:
6	chr1:84540590..84543508-chr1:84558962..84560991,2	K562	blood:
7	chr1:84541598..84548799-chr1:84549003..84554628,15	K562	blood:
8	chr1:84377090..84379247-chr1:84542414..84544902,2	K562	blood:
9	chr1:84542759..84543477-chr10:17272146..17272948,2	Hela-S3	cervix:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TTLL7-3	chr1:84542062-84543325	XLOC_000889
2	lnc-TTLL7-3	chr1:84542014-84543614	ENSG00000271576.1
3	lnc-TTLL7-3	chr1:84542014-84543655	NONHSAT004184

Variant related genes	Relation type
PRKACB	TF binding region
PRKACB	CpG island
ENSG00000174021	Chromatin interaction
ENSG00000026025	Chromatin interaction
ENSG00000213540	Chromatin interaction
ENSG00000117155	Chromatin interaction
ENSG00000137941	Chromatin interaction
ENSG00000122432	Chromatin interaction
ENSG00000188229	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1732	chr1:84499098-84544635	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv871655	chr1:84517261-84550849	Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	nsv546689	chr1:84531117-84670816	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	esv3379138	chr1:84531980-84545128	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
5	esv3411922	chr1:84542914-84544812	Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:84542000-84544600	Active TSS	iPS-20b Cell Line	embryonic stem cell
2	chr1:84542000-84544800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr1:84542000-84545200	Active TSS	HUES64 Cell Line	embryonic stem cell
4	chr1:84542400-84543200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr1:84542400-84543200	Flanking Active TSS	Dnd41	blood
6	chr1:84542400-84543200	Flanking Active TSS	GM12878-XiMat	blood
7	chr1:84542400-84543400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr1:84542400-84543400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr1:84542400-84544400	Active TSS	HMEC	breast
10	chr1:84542400-84544600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr1:84542400-84544600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr1:84542400-84544600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr1:84542400-84544600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
14	chr1:84542400-84544800	Active TSS	H1 Cell Line	embryonic stem cell
15	chr1:84542400-84544800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr1:84542400-84544800	Active TSS	HUES48 Cell Line	embryonic stem cell
17	chr1:84542400-84544800	Active TSS	HUES6 Cell Line	embryonic stem cell
18	chr1:84542400-84545000	Active TSS	H9 Cell Line	embryonic stem cell
19	chr1:84542400-84545000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr1:84542600-84543200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
21	chr1:84542600-84543200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
22	chr1:84542600-84543200	Flanking Active TSS	Fetal Brain Female	brain
23	chr1:84542600-84543200	Flanking Active TSS	HUVEC	blood vessel
24	chr1:84542600-84543400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr1:84542600-84544200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr1:84542600-84544400	Active TSS	Brain Anterior Caudate	brain
27	chr1:84542600-84544400	Active TSS	Fetal Muscle Leg	muscle
28	chr1:84542600-84544400	Active TSS	Skeletal Muscle Male	skeletal muscle
29	chr1:84542600-84544400	Active TSS	K562	blood
30	chr1:84542600-84544400	Active TSS	Osteobl	bone
31	chr1:84542600-84544800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr1:84542600-84544800	Active TSS	A549	lung
33	chr1:84542600-84545000	Active TSS	ES-I3 Cell Line	embryonic stem cell
34	chr1:84542600-84545000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
35	chr1:84542600-84545000	Active TSS	Brain Cingulate Gyrus	brain
36	chr1:84542600-84545000	Active TSS	NHLF	lung
37	chr1:84542800-84543200	Flanking Active TSS	Primary T cells from cord blood	blood
38	chr1:84542800-84543200	Flanking Active TSS	Primary hematopoietic stem cells	blood
39	chr1:84542800-84543200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
40	chr1:84542800-84543200	Flanking Active TSS	Fetal Kidney	kidney
41	chr1:84542800-84543200	Flanking Active TSS	Fetal Stomach	stomach
42	chr1:84542800-84543200	Flanking Active TSS	Rectal Smooth Muscle	rectum
43	chr1:84542800-84543200	Active TSS	Right Atrium	heart
44	chr1:84542800-84543400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
45	chr1:84542800-84543400	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
46	chr1:84542800-84543800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr1:84542800-84544200	Active TSS	Brain Germinal Matrix	brain
48	chr1:84542800-84544200	Active TSS	Fetal Thymus	thymus
49	chr1:84542800-84544200	Active TSS	Rectal Mucosa Donor 31	rectum
50	chr1:84542800-84544200	Active TSS	Skeletal Muscle Female	skeletal muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links