Variant report

Variant	rs528898664
Chromosome Location	chr2:36582333-36582334
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	MAX	chr2:36582212-36585359	HepG2	liver:	n/a	chr2:36583787-36583797 chr2:36583171-36583181 chr2:36582816-36582825
2	REST	chr2:36581908-36583257	H1-neurons	neurons:	n/a	chr2:36582210-36582220 chr2:36582623-36582643 chr2:36582119-36582127 chr2:36583054-36583067 chr2:36583095-36583108 chr2:36582513-36582526
3	MAX	chr2:36581818-36583228	A549	lung:	n/a	chr2:36583171-36583181 chr2:36582816-36582825
4	JUND	chr2:36582209-36582572	H1-hESC	embryonic stem cell:	n/a	n/a
5	STAT3	chr2:36581888-36582346	MCF10A-Er-Src	breast:	n/a	n/a
6	POLR2A	chr2:36581529-36586771	HUVEC	blood vessel:	n/a	n/a
7	ZNF263	chr2:36581792-36585657	HEK293-T-REx	kidney:	n/a	chr2:36582682-36582691 chr2:36583058-36583067 chr2:36584305-36584314 chr2:36583408-36583417 chr2:36582841-36582850 chr2:36582722-36582731 chr2:36583047-36583068
8	POLR2A	chr2:36581491-36585794	HepG2	liver:	n/a	n/a
9	POLR2A	chr2:36581666-36586427	IMR90	lung:	n/a	n/a
10	SMARCB1	chr2:36582328-36585091	Hela-S3	cervix:	n/a	n/a
11	SIN3AK20	chr2:36581837-36582338	PANC-1	pancreas:	n/a	n/a
12	POLR2A	chr2:36581831-36582345	PANC-1	pancreas:	n/a	n/a
13	CREB1	chr2:36581986-36585508	HepG2	liver:	n/a	n/a
14	SIN3AK20	chr2:36581880-36583285	SK-N-SH	brain:	n/a	n/a
15	YY1	chr2:36582292-36584083	HepG2	liver:	n/a	chr2:36582858-36582872 chr2:36583242-36583256 chr2:36583060-36583074 chr2:36583072-36583086 chr2:36583416-36583425 chr2:36583109-36583118 chr2:36582439-36582450 chr2:36582785-36582799 chr2:36583892-36583901 chr2:36583103-36583114 chr2:36583063-36583077 chr2:36583419-36583428 chr2:36583066-36583080 chr2:36583889-36583898 chr2:36583806-36583820 chr2:36583890-36583904 chr2:36583069-36583083 chr2:36583106-36583117 chr2:36583806-36583815 chr2:36583912-36583921 chr2:36583025-36583036 chr2:36582530-36582544 chr2:36583098-36583112 chr2:36583413-36583427 chr2:36583106-36583115 chr2:36583801-36583815 chr2:36583417-36583428 chr2:36583028-36583042 chr2:36583884-36583898
16	YY1	chr2:36582193-36582500	A549	lung:	n/a	chr2:36582439-36582450
17	POLR2A	chr2:36582062-36583824	MCF10A-Er-Src	breast:	n/a	n/a
18	SP1	chr2:36581527-36583149	A549	lung:	n/a	chr2:36582999-36583008 chr2:36582821-36582831 chr2:36582782-36582791 chr2:36582817-36582831 chr2:36582836-36582850 chr2:36582821-36582830 chr2:36582998-36583007 chr2:36582994-36583008 chr2:36582720-36582734 chr2:36582794-36582815
19	MAZ	chr2:36582258-36585263	HepG2	liver:	n/a	chr2:36583787-36583797 chr2:36583171-36583181 chr2:36582816-36582825
20	TCF12	chr2:36581573-36583314	A549	lung:	n/a	n/a
21	SIN3A	chr2:36581674-36585662	H1-hESC	embryonic stem cell:	n/a	chr2:36583069-36583082 chr2:36582118-36582126
22	MAZ	chr2:36581703-36585862	IMR90	lung:	n/a	chr2:36583787-36583797 chr2:36583171-36583181 chr2:36582816-36582825
23	CHD1	chr2:36581051-36590233	IMR90	lung:	n/a	chr2:36584898-36584908
24	MXI1	chr2:36581371-36586962	IMR90	lung:	n/a	chr2:36583794-36583803
25	POLR2A	chr2:36581471-36582333	PANC-1	pancreas:	n/a	n/a
26	MAX	chr2:36581645-36586064	A549	lung:	n/a	chr2:36583787-36583797 chr2:36583171-36583181 chr2:36582816-36582825
27	POLR2A	chr2:36582321-36582764	H1-neurons	neurons:	n/a	n/a
28	POLR2A	chr2:36581876-36585852	ProgFib	skin:	n/a	n/a
29	MXI1	chr2:36582196-36585539	HepG2	liver:	n/a	chr2:36583794-36583803
30	POLR2A	chr2:36582264-36583312	H1-hESC	embryonic stem cell:	n/a	n/a
31	CHD2	chr2:36582155-36585159	Hela-S3	cervix:	n/a	chr2:36584898-36584908
32	POLR2A	chr2:36582314-36586160	HUVEC	blood vessel:	n/a	n/a
33	CHD2	chr2:36582085-36582946	H1-hESC	embryonic stem cell:	n/a	n/a
34	TBP	chr2:36582054-36583277	H1-hESC	embryonic stem cell:	n/a	n/a
35	RAD21	chr2:36582272-36582472	HepG2	liver:	n/a	n/a
36	POLR2A	chr2:36581428-36586725	HUVEC	blood vessel:	n/a	n/a
37	RCOR1	chr2:36582259-36583492	Hela-S3	cervix:	n/a	n/a
38	RAD21	chr2:36582189-36582736	H1-hESC	embryonic stem cell:	n/a	chr2:36582530-36582543
39	POLR2A	chr2:36582093-36585368	Hela-S3	cervix:	n/a	n/a
40	MAX	chr2:36582163-36585517	HepG2	liver:	n/a	chr2:36583787-36583797 chr2:36583171-36583181 chr2:36582816-36582825
41	RAD21	chr2:36582329-36583197	H1-hESC	embryonic stem cell:	n/a	chr2:36582530-36582543
42	POLR2A	chr2:36582258-36585512	H1-hESC	embryonic stem cell:	n/a	n/a
43	EP300	chr2:36581809-36583797	SK-N-SH	brain:	n/a	chr2:36583770-36583786 chr2:36582660-36582676 chr2:36583082-36583098 chr2:36583418-36583427 chr2:36583107-36583116 chr2:36583068-36583077 chr2:36583066-36583075 chr2:36583069-36583085 chr2:36583070-36583086
44	SMC3	chr2:36581869-36583056	Hela-S3	cervix:	n/a	n/a
45	RAD21	chr2:36582260-36583069	HepG2	liver:	n/a	chr2:36582530-36582543
46	CEBPB	chr2:36582093-36582445	HepG2	liver:	n/a	chr2:36582300-36582313
47	MAZ	chr2:36582068-36585332	Hela-S3	cervix:	n/a	chr2:36583787-36583797 chr2:36583171-36583181 chr2:36582816-36582825
48	GATA3	chr2:36581389-36586752	A549	lung:	n/a	chr2:36584490-36584497 chr2:36585752-36585763
49	TEAD4	chr2:36582238-36584146	SK-N-SH	brain:	n/a	n/a
50	POLR2A	chr2:36582019-36585717	Hela-S3	cervix:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:36582293-36582343	NB4	blood:	n/a
2	chr2:36582293-36582343	HUVEC	blood vessel:	n/a
3	chr2:36582293-36582343	Jurkat	blood:	n/a
4	chr2:36582293-36582343	GM12878	blood:	n/a
5	chr2:36582293-36582343	A549	lung:	n/a
6	chr2:36582293-36582343	Caco-2	colon:	n/a
7	chr2:36582293-36582343	PrEC	prostate:	n/a
8	chr2:36582293-36582343	AoSMC	blood vessel:	n/a
9	chr2:36582293-36582343	K562	blood:	n/a
10	chr2:36582293-36582343	MCF10A-Er-Src	breast:	n/a
11	chr2:36582293-36582343	HCF	heart:	n/a
12	chr2:36582293-36582343	U87	brain:	n/a
13	chr2:36582293-36582343	LNCaP	prostate:	n/a
14	chr2:36582293-36582343	GM12892	blood:	n/a
15	chr2:36582293-36582343	SAEC	small airway:	n/a
16	chr2:36582293-36582343	HRE	kidney:	n/a
17	chr2:36582293-36582343	HCPEpiC	choroid plexus:	n/a
18	chr2:36582293-36582343	HNPCEpiC	eye:	n/a
19	chr2:36582293-36582343	RPTEC	kidney:	n/a
20	chr2:36582293-36582343	HEEpiC	esophagus:	n/a
21	chr2:36582293-36582343	SK-N-SH_RA	brain:	n/a
22	chr2:36582293-36582343	SKMC	muscle:	n/a
23	chr2:36582293-36582343	HRPEpiC	eye:	n/a
24	chr2:36582293-36582343	PFSK-1	brain:	n/a
25	chr2:36582293-36582343	AG09319	gingival:	n/a
26	chr2:36582293-36582343	GM19239	blood:	n/a
27	chr2:36582293-36582343	H1-hESC	embryonic stem cell:	embryo
28	chr2:36582293-36582343	SK-N-SH	brain:	n/a
29	chr2:36582293-36582343	AG09309	skin:	n/a
30	chr2:36582293-36582343	HAEpiC	amniotic membrane:	n/a
31	chr2:36582293-36582343	ECC-1	luminal epithelium:	n/a
32	chr2:36582293-36582343	ovcar-3	ovarian:	n/a
33	chr2:36582293-36582343	GM12891	blood:	n/a
34	chr2:36582293-36582343	NHBE	bronchial:	n/a
35	chr2:36582293-36582343	HepG2	liver:	n/a
36	chr2:36582293-36582343	GM06990	blood:	n/a
37	chr2:36582293-36582343	BE2_C	brain:	n/a
38	chr2:36582293-36582343	HEK293	kidney:	embryo
39	chr2:36582293-36582343	MCF-7	breast:	n/a
40	chr2:36582293-36582343	HIPEpiC	eye:	n/a
41	chr2:36582293-36582343	SK-N-MC	brain:	n/a
42	chr2:36582293-36582343	NH-A	brain:	n/a
43	chr2:36582293-36582343	HRCEpiC	kidney:	n/a
44	chr2:36582293-36582343	AG04449	skin:	fetal
45	chr2:36582293-36582343	Hela-S3	cervix:	n/a
46	chr2:36582293-36582343	BJ	skin:	n/a
47	chr2:36582293-36582343	T-47D	breast:	n/a
48	chr2:36582293-36582343	CMK	blood:	n/a
49	chr2:36582293-36582343	HL-60	blood:	n/a
50	chr2:36582293-36582343	NHDF-neo	bronchial:	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:36582124..36584781-chr2:36595194..36598033,3	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AC007401.2.1-1	chr2:36582231-36582636	XLOC_002048
2	lnc-AC007401.2.1-1	chr2:36582231-36582763	NONHSAT070077
3	lnc-AC007401.2.1-1	chr2:36582262-36582739	NONHSAT070079
4	lnc-AC007401.2.1-1	chr2:36582231-36582713	NR_037631

Variant related genes	Relation type
CRIM1	TF binding region
ENSG00000260025	TF binding region
ENSG00000260025	CpG island
CRIM1	CpG island
ENSG00000150938	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	esv2757792	chr2:36243452-36590658	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	esv2759040	chr2:36243452-36590658	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	esv3408557	chr2:36581673-36584221	Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	esv3447532	chr2:36581748-36584896	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	esv3441143	chr2:36581973-36584821	Bivalent/Poised TSS Bivalent Enhancer Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:36579800-36582400	Enhancers	Primary B cells from peripheral blood	blood
2	chr2:36581200-36586400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr2:36581400-36585800	Active TSS	Fetal Brain Female	brain
4	chr2:36581400-36586400	Active TSS	ES-I3 Cell Line	embryonic stem cell
5	chr2:36581600-36582400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
6	chr2:36581600-36582400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr2:36581600-36582400	Flanking Active TSS	Adipose Nuclei	Adipose
8	chr2:36581600-36582400	Active TSS	Brain Germinal Matrix	brain
9	chr2:36581600-36582400	Flanking Active TSS	Hela-S3	cervix
10	chr2:36581600-36584400	Active TSS	Rectal Mucosa Donor 29	rectum
11	chr2:36581600-36585000	Active TSS	Rectal Smooth Muscle	rectum
12	chr2:36581600-36585400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr2:36581800-36582400	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr2:36581800-36582400	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
15	chr2:36581800-36582400	Active TSS	Fetal Brain Male	brain
16	chr2:36581800-36582400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
17	chr2:36581800-36582600	Flanking Active TSS	Duodenum Mucosa	Duodenum
18	chr2:36581800-36583000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr2:36581800-36583000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr2:36581800-36583800	Active TSS	NHLF	lung
21	chr2:36581800-36585400	Active TSS	Fetal Intestine Large	intestine
22	chr2:36581800-36585400	Active TSS	Pancreatic Islets	Pancreatic Islet
23	chr2:36581800-36585600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
24	chr2:36581800-36585600	Active TSS	Fetal Stomach	stomach
25	chr2:36581800-36587000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr2:36581800-36587000	Active TSS	Aorta	Aorta
27	chr2:36582000-36582400	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr2:36582000-36582400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr2:36582000-36582400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
30	chr2:36582000-36582400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
31	chr2:36582000-36582400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
32	chr2:36582000-36582400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
33	chr2:36582000-36582400	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
34	chr2:36582000-36582400	Flanking Active TSS	Fetal Intestine Small	intestine
35	chr2:36582000-36582400	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
36	chr2:36582000-36582600	Flanking Active TSS	Primary hematopoietic stem cells	blood
37	chr2:36582000-36582600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr2:36582000-36582600	Flanking Active TSS	Liver	Liver
39	chr2:36582000-36582600	Bivalent/Poised TSS	Fetal Muscle Trunk	muscle
40	chr2:36582000-36583000	Flanking Active TSS	Primary B cells from cord blood	blood
41	chr2:36582000-36583400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr2:36582000-36583400	Active TSS	Pancreas	Pancrea
43	chr2:36582000-36583600	Active TSS	Right Ventricle	heart
44	chr2:36582000-36584000	Active TSS	Colonic Mucosa	Colon
45	chr2:36582000-36584000	Active TSS	A549	lung
46	chr2:36582000-36584400	Active TSS	Duodenum Smooth Muscle	Duodenum
47	chr2:36582000-36585000	Active TSS	Brain Substantia Nigra	brain
48	chr2:36582000-36585200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr2:36582000-36585200	Active TSS	Esophagus	oesophagus
50	chr2:36582000-36585200	Active TSS	Fetal Kidney	kidney

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