Variant report

Variant	rs369162146
Chromosome Location	chr2:133427973-133427974
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	USF1	chr2:133427560-133428056	H1-hESC	embryonic stem cell:	n/a	chr2:133427566-133427582 chr2:133427837-133427858 chr2:133427608-133427624 chr2:133427691-133427707 chr2:133427844-133427853 chr2:133427580-133427596 chr2:133427841-133427854 chr2:133427843-133427852 chr2:133427843-133427852
2	MAX	chr2:133426800-133429516	A549	lung:	n/a	chr2:133429294-133429305 chr2:133427838-133427857 chr2:133427843-133427852 chr2:133427843-133427852 chr2:133428962-133428972
3	POLR2A	chr2:133426781-133429482	H1-neurons	neurons:	n/a	n/a
4	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
5	POLR2A	chr2:133427525-133427985	HUVEC	blood vessel:	n/a	n/a
6	SIN3AK20	chr2:133426720-133429555	MCF-7	breast:	n/a	n/a
7	USF1	chr2:133427560-133428040	A549	lung:	n/a	chr2:133427566-133427582 chr2:133427837-133427858 chr2:133427608-133427624 chr2:133427691-133427707 chr2:133427844-133427853 chr2:133427580-133427596 chr2:133427841-133427854 chr2:133427843-133427852 chr2:133427843-133427852
8	MAX	chr2:133427420-133428523	A549	lung:	n/a	chr2:133427838-133427857 chr2:133427843-133427852 chr2:133427843-133427852
9	MAX	chr2:133427333-133428955	MCF-7	breast:	n/a	chr2:133427838-133427857 chr2:133427843-133427852 chr2:133427843-133427852
10	POLR2A	chr2:133426851-133429032	MCF-7	breast:	n/a	n/a
11	USF1	chr2:133427591-133428146	SK-N-SH	brain:	n/a	chr2:133427837-133427858 chr2:133427608-133427624 chr2:133427691-133427707 chr2:133427844-133427853 chr2:133427841-133427854 chr2:133427843-133427852 chr2:133427843-133427852
12	MYC	chr2:133427739-133428629	MCF-7	breast:	n/a	chr2:133427838-133427857 chr2:133427843-133427852 chr2:133427843-133427852
13	RCOR1	chr2:133426142-133429474	IMR90	lung:	n/a	n/a
14	POLR2A	chr2:133427398-133429097	HUVEC	blood vessel:	n/a	n/a
15	E2F6	chr2:133426853-133428031	H1-hESC	embryonic stem cell:	n/a	chr2:133427935-133427947 chr2:133427973-133427985 chr2:133427745-133427754 chr2:133428015-133428024 chr2:133427877-133427889 chr2:133427877-133427886
16	ATF3	chr2:133427676-133428034	H1-hESC	embryonic stem cell:	n/a	chr2:133427843-133427852
17	USF2	chr2:133427680-133427993	Hela-S3	cervix:	n/a	chr2:133427841-133427852 chr2:133427837-133427858 chr2:133427691-133427707 chr2:133427844-133427853 chr2:133427841-133427854 chr2:133427843-133427852 chr2:133427843-133427852
18	USF2	chr2:133427672-133428017	H1-hESC	embryonic stem cell:	n/a	chr2:133427841-133427852 chr2:133427837-133427858 chr2:133427691-133427707 chr2:133427844-133427853 chr2:133427841-133427854 chr2:133427843-133427852 chr2:133427843-133427852
19	ZBTB7A	chr2:133427752-133428461	ECC-1	luminal epithelium:	n/a	chr2:133427962-133427969
20	NFIC	chr2:133427893-133428629	ECC-1	luminal epithelium:	n/a	n/a
21	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
22	POLR2A	chr2:133427910-133428414	ECC-1	luminal epithelium:	n/a	n/a
23	EP300	chr2:133427047-133428696	ECC-1	luminal epithelium:	n/a	chr2:133427073-133427082 chr2:133428203-133428219 chr2:133427692-133427708
24	MAZ	chr2:133427591-133429540	IMR90	lung:	n/a	chr2:133429294-133429305 chr2:133427838-133427857 chr2:133427843-133427852 chr2:133427843-133427852 chr2:133428962-133428972
25	USF1	chr2:133427487-133428183	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 chr2:133427841-133427854 chr2:133427843-133427852 chr2:133427843-133427852
26	POLR2A	chr2:133427529-133428199	ProgFib	skin:	n/a	n/a
27	FOXP2	chr2:133427714-133428024	SK-N-MC	brain:	n/a	n/a
28	USF1	chr2:133427418-133428133	SK-N-SH	brain:	n/a	chr2:133427566-133427582 chr2:133427837-133427858 chr2:133427608-133427624 chr2:133427691-133427707 chr2:133427556-133427572 chr2:133427844-133427853 chr2:133427580-133427596 chr2:133427841-133427854 chr2:133427843-133427852 chr2:133427843-133427852
29	USF1	chr2:133427608-133427982	H1-hESC	embryonic stem cell:	n/a	chr2:133427837-133427858 chr2:133427608-133427624 chr2:133427691-133427707 chr2:133427844-133427853 chr2:133427841-133427854 chr2:133427843-133427852 chr2:133427843-133427852
30	POLR2A	chr2:133426596-133428578	SK-N-MC	brain:	n/a	n/a
31	USF1	chr2:133427609-133427990	A549	lung:	n/a	chr2:133427837-133427858 chr2:133427691-133427707 chr2:133427844-133427853 chr2:133427841-133427854 chr2:133427843-133427852 chr2:133427843-133427852
32	USF1	chr2:133427588-133427998	SK-N-SH_RA	brain:	n/a	chr2:133427837-133427858 chr2:133427608-133427624 chr2:133427691-133427707 chr2:133427844-133427853 chr2:133427841-133427854 chr2:133427843-133427852 chr2:133427843-133427852
33	POLR2A	chr2:133427478-133428335	HUVEC	blood vessel:	n/a	n/a
34	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
35	ZNF263	chr2:133426898-133429020	HEK293-T-REx	kidney:	n/a	n/a
36	POLR2A	chr2:133427428-133429411	HUVEC	blood vessel:	n/a	n/a
37	MAX	chr2:133427740-133428666	ECC-1	luminal epithelium:	n/a	chr2:133427838-133427857 chr2:133427843-133427852 chr2:133427843-133427852
38	USF1	chr2:133427656-133427976	K562	blood:	n/a	chr2:133427837-133427858 chr2:133427691-133427707 chr2:133427844-133427853 chr2:133427841-133427854 chr2:133427843-133427852 chr2:133427843-133427852
39	MAX	chr2:133426847-133428133	H1-hESC	embryonic stem cell:	n/a	chr2:133427838-133427857 chr2:133427843-133427852 chr2:133427843-133427852
40	MAX	chr2:133427407-133429036	H1-hESC	embryonic stem cell:	n/a	chr2:133427838-133427857 chr2:133427843-133427852 chr2:133427843-133427852 chr2:133428962-133428972
41	USF1	chr2:133427560-133428025	SK-N-SH_RA	brain:	n/a	chr2:133427566-133427582 chr2:133427837-133427858 chr2:133427608-133427624 chr2:133427691-133427707 chr2:133427844-133427853 chr2:133427580-133427596 chr2:133427841-133427854 chr2:133427843-133427852 chr2:133427843-133427852
42	POLR2A	chr2:133427583-133427989	MCF-7	breast:	n/a	n/a
43	TAF1	chr2:133427940-133428465	H1-neurons	neurons:	n/a	n/a
44	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
45	POLR2A	chr2:133427498-133428757	U87	brain:	n/a	n/a
46	USF1	chr2:133427589-133428064	A549	lung:	n/a	chr2:133427837-133427858 chr2:133427608-133427624 chr2:133427691-133427707 chr2:133427844-133427853 chr2:133427841-133427854 chr2:133427843-133427852 chr2:133427843-133427852
47	USF1	chr2:133427667-133428020	A549	lung:	n/a	chr2:133427837-133427858 chr2:133427691-133427707 chr2:133427844-133427853 chr2:133427841-133427854 chr2:133427843-133427852 chr2:133427843-133427852
48	USF1	chr2:133427605-133428035	A549	lung:	n/a	chr2:133427837-133427858 chr2:133427608-133427624 chr2:133427691-133427707 chr2:133427844-133427853 chr2:133427841-133427854 chr2:133427843-133427852 chr2:133427843-133427852
49	MAX	chr2:133427180-133428578	ECC-1	luminal epithelium:	n/a	chr2:133427838-133427857 chr2:133427843-133427852 chr2:133427843-133427852
50	USF1	chr2:133427627-133428041	A549	lung:	n/a	chr2:133427837-133427858 chr2:133427691-133427707 chr2:133427844-133427853 chr2:133427841-133427854 chr2:133427843-133427852 chr2:133427843-133427852

No.	Distal block	Cell Line	Cell type	Cell Stage
1	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:97 , 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	chr2:133426000-133428200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr2:133426000-133428200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr2:133426000-133428800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
10	chr2:133426000-133428800	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
11	chr2:133426000-133429000	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr2:133426000-133429000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr2:133426000-133429000	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
14	chr2:133426000-133429200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
15	chr2:133426000-133429400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
16	chr2:133426000-133429400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
17	chr2:133426200-133428000	Bivalent/Poised TSS	Fetal Intestine Small	intestine
18	chr2:133426200-133428800	Active TSS	Brain Anterior Caudate	brain
19	chr2:133426400-133428000	Active TSS	Fetal Brain Female	brain
20	chr2:133426400-133428400	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr2:133426400-133429000	Active TSS	Pancreatic Islets	Pancreatic Islet
22	chr2:133426600-133428600	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr2:133426600-133428600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr2:133426600-133428600	Flanking Bivalent TSS/Enh	NHEK	skin
25	chr2:133426600-133428800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr2:133426600-133428800	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr2:133426600-133429000	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
28	chr2:133426600-133429000	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
29	chr2:133426600-133429000	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
30	chr2:133426600-133429000	Bivalent Enhancer	Spleen	Spleen
31	chr2:133426600-133429200	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr2:133426800-133428200	Bivalent/Poised TSS	Thymus	Thymus
33	chr2:133426800-133428400	Flanking Bivalent TSS/Enh	Lung	lung
34	chr2:133426800-133428800	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
35	chr2:133426800-133428800	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
36	chr2:133426800-133429000	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr2:133427000-133428000	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
38	chr2:133427000-133428000	Active TSS	HUVEC	blood vessel
39	chr2:133427000-133428200	Bivalent Enhancer	Fetal Brain Male	brain
40	chr2:133427000-133428600	Enhancers	Fetal Heart	heart
41	chr2:133427000-133429000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
42	chr2:133427000-133429000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr2:133427000-133429000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr2:133427000-133429000	Flanking Active TSS	Liver	Liver
45	chr2:133427000-133429000	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
46	chr2:133427200-133428000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr2:133427200-133428000	Bivalent/Poised TSS	Psoas Muscle	Psoas
48	chr2:133427200-133428000	Active TSS	NHLF	lung
49	chr2:133427200-133428200	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
50	chr2:133427200-133428200	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain

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