Variant report

Variant	rs574814761
Chromosome Location	chr2:133428219-133428220
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	MAX	chr2:133426800-133429516	A549	lung:	n/a	chr2:133429294-133429305 chr2:133427838-133427857 chr2:133427843-133427852 chr2:133427843-133427852 chr2:133428962-133428972
2	POLR2A	chr2:133426781-133429482	H1-neurons	neurons:	n/a	n/a
3	E2F6	chr2:133426955-133428272	H1-hESC	embryonic stem cell:	n/a	chr2:133427935-133427947 chr2:133428246-133428260 chr2:133427973-133427985 chr2:133427745-133427754 chr2:133428015-133428024 chr2:133427877-133427889 chr2:133428223-133428233 chr2:133427877-133427886
4	SIN3AK20	chr2:133426720-133429555	MCF-7	breast:	n/a	n/a
5	MAX	chr2:133427420-133428523	A549	lung:	n/a	chr2:133427838-133427857 chr2:133427843-133427852 chr2:133427843-133427852
6	MAX	chr2:133427333-133428955	MCF-7	breast:	n/a	chr2:133427838-133427857 chr2:133427843-133427852 chr2:133427843-133427852
7	POLR2A	chr2:133426851-133429032	MCF-7	breast:	n/a	n/a
8	MYC	chr2:133427739-133428629	MCF-7	breast:	n/a	chr2:133427838-133427857 chr2:133427843-133427852 chr2:133427843-133427852
9	RCOR1	chr2:133426142-133429474	IMR90	lung:	n/a	n/a
10	POLR2A	chr2:133427398-133429097	HUVEC	blood vessel:	n/a	n/a
11	MAX	chr2:133428092-133428532	Hela-S3	cervix:	n/a	n/a
12	ZBTB7A	chr2:133427752-133428461	ECC-1	luminal epithelium:	n/a	chr2:133427962-133427969
13	NFIC	chr2:133427893-133428629	ECC-1	luminal epithelium:	n/a	n/a
14	CTCF	chr2:133428120-133428270	GM12868	blood:	n/a	n/a
15	USF1	chr2:133427463-133428347	ECC-1	luminal epithelium:	n/a	chr2:133427566-133427582 chr2:133427837-133427858 chr2:133427608-133427624 chr2:133427691-133427707 chr2:133427556-133427572 chr2:133427844-133427853 chr2:133427580-133427596 chr2:133428204-133428220 chr2:133427841-133427854 chr2:133427843-133427852 chr2:133427843-133427852
16	POLR2A	chr2:133427910-133428414	ECC-1	luminal epithelium:	n/a	n/a
17	CHD2	chr2:133428162-133428485	Hela-S3	cervix:	n/a	n/a
18	EP300	chr2:133427047-133428696	ECC-1	luminal epithelium:	n/a	chr2:133427073-133427082 chr2:133428203-133428219 chr2:133427692-133427708
19	SMC3	chr2:133428195-133428643	Hela-S3	cervix:	n/a	n/a
20	MAZ	chr2:133427591-133429540	IMR90	lung:	n/a	chr2:133429294-133429305 chr2:133427838-133427857 chr2:133427843-133427852 chr2:133427843-133427852 chr2:133428962-133428972
21	FOXP2	chr2:133428029-133428363	SK-N-MC	brain:	n/a	n/a
22	POLR2A	chr2:133426596-133428578	SK-N-MC	brain:	n/a	n/a
23	CTCF	chr2:133428140-133428290	GM12872	blood:	n/a	n/a
24	POLR2A	chr2:133427478-133428335	HUVEC	blood vessel:	n/a	n/a
25	REST	chr2:133425587-133429568	H1-neurons	neurons:	n/a	chr2:133426710-133426723 chr2:133428057-133428067 chr2:133427604-133427622 chr2:133427825-133427838 chr2:133427252-133427265 chr2:133427250-133427260 chr2:133427567-133427580 chr2:133427197-133427215
26	ZNF263	chr2:133426898-133429020	HEK293-T-REx	kidney:	n/a	n/a
27	POLR2A	chr2:133428071-133428694	Hela-S3	cervix:	n/a	n/a
28	POLR2A	chr2:133427428-133429411	HUVEC	blood vessel:	n/a	n/a
29	MAX	chr2:133427740-133428666	ECC-1	luminal epithelium:	n/a	chr2:133427838-133427857 chr2:133427843-133427852 chr2:133427843-133427852
30	MAX	chr2:133427407-133429036	H1-hESC	embryonic stem cell:	n/a	chr2:133427838-133427857 chr2:133427843-133427852 chr2:133427843-133427852 chr2:133428962-133428972
31	MYC	chr2:133428076-133428398	MCF-7	breast:	n/a	n/a
32	EP300	chr2:133427989-133428557	ECC-1	luminal epithelium:	n/a	chr2:133428203-133428219
33	TAF1	chr2:133427940-133428465	H1-neurons	neurons:	n/a	n/a
34	HA-E2F1	chr2:133426907-133428727	MCF-7	breast:	n/a	chr2:133427935-133427947 chr2:133428246-133428260 chr2:133427973-133427985 chr2:133428436-133428448 chr2:133427745-133427754 chr2:133428015-133428024 chr2:133427877-133427889 chr2:133428223-133428233 chr2:133427877-133427886
35	POLR2A	chr2:133427498-133428757	U87	brain:	n/a	n/a
36	MAX	chr2:133427180-133428578	ECC-1	luminal epithelium:	n/a	chr2:133427838-133427857 chr2:133427843-133427852 chr2:133427843-133427852
37	TEAD4	chr2:133428023-133428662	ECC-1	luminal epithelium:	n/a	n/a
38	TCF12	chr2:133427048-133428669	ECC-1	luminal epithelium:	n/a	chr2:133428032-133428042 chr2:133427193-133427203
39	POLR2A	chr2:133427575-133428399	U87	brain:	n/a	n/a
40	NFIC	chr2:133427939-133428636	ECC-1	luminal epithelium:	n/a	n/a
41	POLR2A	chr2:133426756-133429398	H1-neurons	neurons:	n/a	n/a
42	POLR2A	chr2:133427543-133428874	MCF-7	breast:	n/a	n/a
43	TCF12	chr2:133427065-133428758	ECC-1	luminal epithelium:	n/a	chr2:133428032-133428042 chr2:133427193-133427203
44	CTBP2	chr2:133426895-133429093	H1-hESC	embryonic stem cell:	n/a	n/a
45	TFAP2C	chr2:133428058-133429318	Hela-S3	cervix:	n/a	chr2:133429095-133429110

No.	Distal block	Cell Line	Cell type
1	chr2:133428080..133428797-chr2:133928852..133929367,2	MCF-7	breast:
2	chr2:133395862..133396428-chr2:133427987..133428958,2	MCF-7	breast:
3	chr2:133173744..133175513-chr2:133427199..133429009,2	MCF-7	breast:

Variant related genes	Relation type
LYPD1	TF binding region
ENSG00000183840	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	nsv1011421	chr2:132895241-133682185	Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv875137	chr2:133167263-133714142	Enhancers Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
3	nsv583158	chr2:133316092-133862100	Weak transcription ZNF genes & repeats Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
4	nsv875138	chr2:133410921-133761794	Enhancers Bivalent/Poised TSS Strong transcription Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS 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 target site	7 gene(s)	inside rSNPs	diseases
5	esv3393724	chr2:133427132-133429630	Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription Enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:133425400-133429200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
2	chr2:133425800-133429000	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
3	chr2:133425800-133429200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
4	chr2:133425800-133429200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
5	chr2:133425800-133429200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr2:133425800-133429200	Active TSS	Fetal Kidney	kidney
7	chr2:133426000-133428800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
8	chr2:133426000-133428800	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
9	chr2:133426000-133429000	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr2:133426000-133429000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr2:133426000-133429000	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
12	chr2:133426000-133429200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
13	chr2:133426000-133429400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
14	chr2:133426000-133429400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
15	chr2:133426200-133428800	Active TSS	Brain Anterior Caudate	brain
16	chr2:133426400-133428400	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr2:133426400-133429000	Active TSS	Pancreatic Islets	Pancreatic Islet
18	chr2:133426600-133428600	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr2:133426600-133428600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr2:133426600-133428600	Flanking Bivalent TSS/Enh	NHEK	skin
21	chr2:133426600-133428800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr2:133426600-133428800	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr2:133426600-133429000	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
24	chr2:133426600-133429000	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
25	chr2:133426600-133429000	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
26	chr2:133426600-133429000	Bivalent Enhancer	Spleen	Spleen
27	chr2:133426600-133429200	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr2:133426800-133428400	Flanking Bivalent TSS/Enh	Lung	lung
29	chr2:133426800-133428800	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
30	chr2:133426800-133428800	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
31	chr2:133426800-133429000	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr2:133427000-133428600	Enhancers	Fetal Heart	heart
33	chr2:133427000-133429000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
34	chr2:133427000-133429000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr2:133427000-133429000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr2:133427000-133429000	Flanking Active TSS	Liver	Liver
37	chr2:133427000-133429000	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
38	chr2:133427200-133428400	Bivalent/Poised TSS	Fetal Intestine Large	intestine
39	chr2:133427200-133428600	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr2:133427200-133428800	Bivalent/Poised TSS	A549	lung
41	chr2:133427200-133429000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
42	chr2:133427200-133429000	Active TSS	Brain Substantia Nigra	brain
43	chr2:133427400-133428400	Bivalent/Poised TSS	HSMMtube	muscle
44	chr2:133427400-133428400	Active TSS	NH-A	brain
45	chr2:133427400-133428600	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr2:133427400-133428600	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
47	chr2:133427400-133428600	Active TSS	Right Atrium	heart
48	chr2:133427400-133428600	Active TSS	Hela-S3	cervix
49	chr2:133427400-133429000	Active TSS	Brain Angular Gyrus	brain
50	chr2:133427600-133428400	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links