Variant report

Variant	rs566240987
Chromosome Location	chr1:166136311-166136312
allele	C/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	TBL1XR1	chr1:166135886-166136696	GM12878	blood:	n/a	n/a
2	MAX	chr1:166135835-166136581	HepG2	liver:	n/a	chr1:166136334-166136343 chr1:166136335-166136342 chr1:166136336-166136345 chr1:166136269-166136279
3	MAZ	chr1:166136121-166136774	HepG2	liver:	n/a	chr1:166136334-166136343 chr1:166136335-166136342 chr1:166136336-166136345 chr1:166136269-166136279
4	ETS1	chr1:166136172-166136457	K562	blood:	n/a	chr1:166136269-166136280
5	EBF1	chr1:166136245-166136552	GM12878	blood:	n/a	n/a
6	REST	chr1:166136219-166136784	ECC-1	luminal epithelium:	n/a	chr1:166136445-166136465 chr1:166136445-166136454
7	CHD2	chr1:166136125-166136616	GM12878	blood:	n/a	n/a
8	ZNF143	chr1:166136118-166136480	H1-hESC	embryonic stem cell:	n/a	chr1:166136260-166136278 chr1:166136119-166136137
9	MAX	chr1:166135665-166136629	K562	blood:	n/a	chr1:166136334-166136343 chr1:166136335-166136342 chr1:166136336-166136345 chr1:166135699-166135709 chr1:166136269-166136279 chr1:166135744-166135754 chr1:166135691-166135700
10	SIN3AK20	chr1:166136181-166136357	PFSK-1	brain:	n/a	n/a
11	POLR2A	chr1:166135446-166136699	GM18951	blood:	n/a	n/a
12	POLR2A	chr1:166136054-166136705	MCF10A-Er-Src	breast:	n/a	n/a
13	ELF1	chr1:166135882-166136670	GM12878	blood:	n/a	chr1:166136084-166136096 chr1:166136344-166136356
14	MAX	chr1:166136103-166136574	K562	blood:	n/a	chr1:166136334-166136343 chr1:166136335-166136342 chr1:166136336-166136345 chr1:166136269-166136279
15	POLR2A	chr1:166136102-166136607	HCT-116	colon:	n/a	n/a
16	REST	chr1:166136278-166136524	U87	brain:	n/a	chr1:166136445-166136465 chr1:166136445-166136454
17	REST	chr1:166135989-166136788	HL-60	blood:	n/a	chr1:166136445-166136465 chr1:166136004-166136017 chr1:166136445-166136454
18	YY1	chr1:166135835-166136386	GM12892	blood:	n/a	chr1:166136083-166136097 chr1:166135986-166135997 chr1:166136083-166136094 chr1:166136016-166136027
19	YY1	chr1:166135894-166136342	K562	blood:	n/a	chr1:166136083-166136097 chr1:166135986-166135997 chr1:166136083-166136094 chr1:166136016-166136027
20	E2F6	chr1:166135566-166136593	K562	blood:	n/a	chr1:166136086-166136096 chr1:166135698-166135707 chr1:166136147-166136157
21	MAX	chr1:166135925-166136628	HCT-116	colon:	n/a	chr1:166136334-166136343 chr1:166136335-166136342 chr1:166136336-166136345 chr1:166136269-166136279
22	MYC	chr1:166135980-166136418	MCF-7	breast:	n/a	chr1:166136334-166136343 chr1:166136335-166136342 chr1:166136336-166136345 chr1:166136269-166136279
23	REST	chr1:166136219-166136691	PANC-1	pancreas:	n/a	chr1:166136445-166136465 chr1:166136445-166136454
24	YY1	chr1:166135891-166136467	HepG2	liver:	n/a	chr1:166136083-166136097 chr1:166135986-166135997 chr1:166136083-166136094 chr1:166136016-166136027
25	USF1	chr1:166136129-166136542	ECC-1	luminal epithelium:	n/a	n/a
26	MYC	chr1:166135927-166136511	K562	blood:	n/a	chr1:166136334-166136343 chr1:166136335-166136342 chr1:166136336-166136345 chr1:166136269-166136279
27	REST	chr1:166136283-166136638	SK-N-SH	brain:	n/a	chr1:166136445-166136465 chr1:166136445-166136454
28	CTCF	chr1:166135907-166136654	K562	blood:	n/a	chr1:166136150-166136163 chr1:166136412-166136425
29	MYC	chr1:166136275-166136456	HepG2	liver:	n/a	chr1:166136334-166136343 chr1:166136335-166136342 chr1:166136336-166136345
30	MXI1	chr1:166136165-166136559	K562	blood:	n/a	n/a
31	REST	chr1:166136260-166136631	U87	brain:	n/a	chr1:166136445-166136465 chr1:166136445-166136454
32	TCF7L2	chr1:166136048-166136497	HCT-116	colon:	n/a	n/a
33	MYC	chr1:166136047-166136507	MCF10A-Er-Src	breast:	n/a	chr1:166136334-166136343 chr1:166136335-166136342 chr1:166136336-166136345 chr1:166136269-166136279
34	REST	chr1:166136294-166136520	GM12878	blood:	n/a	chr1:166136445-166136465 chr1:166136445-166136454
35	EGR1	chr1:166135847-166136454	K562	blood:	n/a	chr1:166136269-166136279 chr1:166136268-166136278 chr1:166136380-166136393 chr1:166136291-166136305 chr1:166135949-166135963
36	REST	chr1:166136294-166136524	U87	brain:	n/a	chr1:166136445-166136465 chr1:166136445-166136454
37	MAX	chr1:166135854-166136587	H1-hESC	embryonic stem cell:	n/a	chr1:166136334-166136343 chr1:166136335-166136342 chr1:166136336-166136345 chr1:166136269-166136279
38	REST	chr1:166136293-166136779	PANC-1	pancreas:	n/a	chr1:166136445-166136465 chr1:166136445-166136454
39	REST	chr1:166136032-166136791	PFSK-1	brain:	n/a	chr1:166136445-166136465 chr1:166136445-166136454
40	SP1	chr1:166136021-166136558	A549	lung:	n/a	chr1:166136351-166136360 chr1:166136089-166136101 chr1:166136385-166136395 chr1:166136089-166136101 chr1:166136320-166136332 chr1:166136352-166136361 chr1:166136091-166136100 chr1:166136347-166136356 chr1:166136322-166136331 chr1:166136350-166136362 chr1:166136385-166136394 chr1:166136090-166136104 chr1:166136272-166136281 chr1:166136350-166136362 chr1:166136090-166136099 chr1:166136352-166136361 chr1:166136090-166136099 chr1:166136381-166136395
41	MAX	chr1:166136063-166136599	A549	lung:	n/a	chr1:166136334-166136343 chr1:166136335-166136342 chr1:166136336-166136345 chr1:166136269-166136279
42	REST	chr1:166136066-166136579	HepG2	liver:	n/a	chr1:166136445-166136465 chr1:166136445-166136454
43	REST	chr1:166136218-166136739	MCF-7	breast:	n/a	chr1:166136445-166136465 chr1:166136445-166136454
44	TBP	chr1:166136071-166136561	K562	blood:	n/a	n/a
45	BHLHE40	chr1:166136074-166136823	K562	blood:	n/a	chr1:166136078-166136094
46	RCOR1	chr1:166135969-166136607	K562	blood:	n/a	n/a
47	REST	chr1:166136183-166136746	A549	lung:	n/a	chr1:166136445-166136465 chr1:166136445-166136454
48	HCFC1	chr1:166136037-166136615	K562	blood:	n/a	n/a
49	NFIC	chr1:166135984-166136488	ECC-1	luminal epithelium:	n/a	n/a
50	TCF7L2	chr1:166136042-166136339	PANC-1	pancreas:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:166136262-166136312	HNPCEpiC	eye:	n/a
2	chr1:166136262-166136312	AG10803	skin:	n/a
3	chr1:166136262-166136312	GM19239	blood:	n/a
4	chr1:166136262-166136312	CMK	blood:	n/a
5	chr1:166136262-166136312	NT2-D1	testis:	n/a
6	chr1:166136262-166136312	BE2_C	brain:	n/a
7	chr1:166136262-166136312	MCF-7	breast:	n/a
8	chr1:166136262-166136312	Jurkat	blood:	n/a
9	chr1:166136262-166136312	HEEpiC	esophagus:	n/a
10	chr1:166136262-166136312	HCM	heart:	n/a
11	chr1:166136262-166136312	GM12878	blood:	n/a
12	chr1:166136262-166136312	HPAEpiC	pulmonary alveolar:	n/a
13	chr1:166136262-166136312	SK-N-SH_RA	brain:	n/a
14	chr1:166136262-166136312	SKMC	muscle:	n/a
15	chr1:166136262-166136312	Hepatocyte	liver:	n/a
16	chr1:166136262-166136312	RPTEC	kidney:	n/a
17	chr1:166136262-166136312	PFSK-1	brain:	n/a
18	chr1:166136262-166136312	GM12891	blood:	n/a
19	chr1:166136262-166136312	HMEC	breast:	n/a
20	chr1:166136262-166136312	HRPEpiC	eye:	n/a
21	chr1:166136262-166136312	A549	lung:	n/a
22	chr1:166136262-166136312	AG04450	lung:	fetal
23	chr1:166136262-166136312	NH-A	brain:	n/a
24	chr1:166136262-166136312	HEK293	kidney:	embryo
25	chr1:166136262-166136312	HRCEpiC	kidney:	n/a
26	chr1:166136262-166136312	HUVEC	blood vessel:	n/a
27	chr1:166136262-166136312	HCT-116	colon:	n/a
28	chr1:166136262-166136312	LNCaP	prostate:	n/a
29	chr1:166136262-166136312	GM12892	blood:	n/a
30	chr1:166136262-166136312	SK-N-SH	brain:	n/a
31	chr1:166136262-166136312	PrEC	prostate:	n/a
32	chr1:166136262-166136312	HAEpiC	amniotic membrane:	n/a
33	chr1:166136262-166136312	PANC-1	pancreas:	n/a
34	chr1:166136262-166136312	HepG2	liver:	n/a
35	chr1:166136262-166136312	K562	blood:	n/a
36	chr1:166136262-166136312	NHDF-neo	bronchial:	n/a
37	chr1:166136262-166136312	GM06990	blood:	n/a
38	chr1:166136262-166136312	SK-N-MC	brain:	n/a
39	chr1:166136262-166136312	H1-hESC	embryonic stem cell:	embryo
40	chr1:166136262-166136312	MCF10A-Er-Src	breast:	n/a
41	chr1:166136262-166136312	SAEC	small airway:	n/a
42	chr1:166136262-166136312	AG09309	skin:	n/a
43	chr1:166136262-166136312	T-47D	breast:	n/a
44	chr1:166136262-166136312	AG09319	gingival:	n/a
45	chr1:166136262-166136312	BJ	skin:	n/a
46	chr1:166136262-166136312	ovcar-3	ovarian:	n/a
47	chr1:166136262-166136312	U87	brain:	n/a
48	chr1:166136262-166136312	ECC-1	luminal epithelium:	n/a
49	chr1:166136262-166136312	Hela-S3	cervix:	n/a
50	chr1:166136262-166136312	HIPEpiC	eye:	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:54411116..54412005-chr1:166135690..166136342,2	HCT-116	colon:

Variant related genes	Relation type
ENSG00000230898	TF binding region
FAM78B	TF binding region
ENSG00000230898	CpG island
FAM78B	CpG island
ENSG00000081870	Chromatin interaction
ENSG00000116212	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	nsv916491	chr1:166000783-166948513	Bivalent/Poised TSS Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	esv3332610	chr1:166111288-166282689	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
3	esv3356306	chr1:166134753-166137301	Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
4	esv3380611	chr1:166135003-166137251	Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
5	esv3328889	chr1:166135153-166137701	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:166133800-166136600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
2	chr1:166134000-166136600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
3	chr1:166134000-166136600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
4	chr1:166134000-166136600	Active TSS	Breast Myoepithelial Primary Cells	Breast
5	chr1:166134000-166136600	Active TSS	Brain Angular Gyrus	brain
6	chr1:166134000-166136600	Active TSS	Brain Anterior Caudate	brain
7	chr1:166134000-166136600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
8	chr1:166134000-166137000	Active TSS	Psoas Muscle	Psoas
9	chr1:166134200-166137000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
10	chr1:166134400-166136600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr1:166134400-166136800	Active TSS	Aorta	Aorta
12	chr1:166134400-166136800	Active TSS	Colon Smooth Muscle	Colon
13	chr1:166134400-166137000	Active TSS	Pancreatic Islets	Pancreatic Islet
14	chr1:166134400-166137000	Active TSS	Left Ventricle	heart
15	chr1:166135000-166136800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
16	chr1:166135200-166136600	Active TSS	Primary T killer naive cells fromperipheralblood	blood
17	chr1:166135200-166136600	Active TSS	Duodenum Smooth Muscle	Duodenum
18	chr1:166135200-166136600	Bivalent/Poised TSS	HepG2	liver
19	chr1:166135200-166136600	Bivalent/Poised TSS	NHLF	lung
20	chr1:166135200-166136800	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr1:166135200-166136800	Bivalent/Poised TSS	Thymus	Thymus
22	chr1:166135400-166136400	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr1:166135400-166136400	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
24	chr1:166135400-166136400	Active TSS	Primary T helper cells fromperipheralblood	blood
25	chr1:166135400-166136400	Active TSS	Primary T regulatory cells fromperipheralblood	blood
26	chr1:166135400-166136400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr1:166135400-166136400	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr1:166135400-166136400	Active TSS	Duodenum Mucosa	Duodenum
29	chr1:166135400-166136400	Bivalent/Poised TSS	Fetal Muscle Leg	muscle
30	chr1:166135400-166136600	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
31	chr1:166135400-166136600	Active TSS	H9 Cell Line	embryonic stem cell
32	chr1:166135400-166136600	Active TSS	iPS-15b Cell Line	embryonic stem cell
33	chr1:166135400-166136600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr1:166135400-166136600	Active TSS	Primary T helper naive cells fromperipheralblood	blood
35	chr1:166135400-166136600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr1:166135400-166136600	Bivalent/Poised TSS	Brain Germinal Matrix	brain
37	chr1:166135400-166136600	Active TSS	Brain Hippocampus Middle	brain
38	chr1:166135400-166136600	Active TSS	Brain Inferior Temporal Lobe	brain
39	chr1:166135400-166136600	Active TSS	Brain Substantia Nigra	brain
40	chr1:166135400-166136600	Active TSS	Fetal Brain Female	brain
41	chr1:166135400-166136600	Active TSS	Rectal Mucosa Donor 31	rectum
42	chr1:166135400-166136600	Active TSS	Skeletal Muscle Male	skeletal muscle
43	chr1:166135400-166136600	Active TSS	Skeletal Muscle Female	skeletal muscle
44	chr1:166135400-166136600	Active TSS	GM12878-XiMat	blood
45	chr1:166135400-166136600	Active TSS	HSMMtube	muscle
46	chr1:166135400-166136800	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr1:166135400-166136800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr1:166135400-166137000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr1:166135400-166137000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr1:166135400-166137000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links