Variant report

Variant	rs567636102
Chromosome Location	chr2:36583120-36583121
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	POLR2A	chr2:36582472-36585107	GM19099	blood:	n/a	n/a
2	MAX	chr2:36582212-36585359	HepG2	liver:	n/a	chr2:36583787-36583797 chr2:36583171-36583181 chr2:36582816-36582825
3	POLR2A	chr2:36582766-36585414	GM12892	blood:	n/a	n/a
4	SIN3AK20	chr2:36582338-36585437	MCF-7	breast:	n/a	n/a
5	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
6	PBX3	chr2:36582434-36583275	SK-N-SH	brain:	n/a	chr2:36582796-36582805
7	MAX	chr2:36581818-36583228	A549	lung:	n/a	chr2:36583171-36583181 chr2:36582816-36582825
8	POLR2A	chr2:36582793-36583122	HepG2	liver:	n/a	n/a
9	ZKSCAN1	chr2:36582864-36583346	Hela-S3	cervix:	n/a	n/a
10	HA-E2F1	chr2:36582630-36583808	Hela-S3	cervix:	n/a	chr2:36583417-36583427 chr2:36582998-36583007 chr2:36583031-36583041 chr2:36583107-36583117 chr2:36582795-36582804
11	POLR2A	chr2:36581529-36586771	HUVEC	blood vessel:	n/a	n/a
12	JUND	chr2:36582409-36583286	A549	lung:	n/a	chr2:36582797-36582806 chr2:36582997-36583006
13	RAD21	chr2:36582419-36583131	ECC-1	luminal epithelium:	n/a	chr2:36582530-36582543
14	POLR2A	chr2:36582782-36583225	Hela-S3	cervix:	n/a	n/a
15	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
16	POLR2A	chr2:36581491-36585794	HepG2	liver:	n/a	n/a
17	POLR2A	chr2:36581666-36586427	IMR90	lung:	n/a	n/a
18	POLR2A	chr2:36582556-36583252	U87	brain:	n/a	n/a
19	SMARCB1	chr2:36582328-36585091	Hela-S3	cervix:	n/a	n/a
20	POLR2A	chr2:36582756-36583145	HepG2	liver:	n/a	n/a
21	POLR2A	chr2:36582817-36583154	A549	lung:	n/a	n/a
22	CREB1	chr2:36581986-36585508	HepG2	liver:	n/a	n/a
23	MAX	chr2:36582565-36583168	HepG2	liver:	n/a	chr2:36582816-36582825
24	POLR2A	chr2:36582793-36583231	SK-N-SH	brain:	n/a	n/a
25	SIN3AK20	chr2:36581880-36583285	SK-N-SH	brain:	n/a	n/a
26	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
27	MXI1	chr2:36582977-36583212	H1-hESC	embryonic stem cell:	n/a	n/a
28	POLR2A	chr2:36582794-36583271	Hela-S3	cervix:	n/a	n/a
29	POLR2A	chr2:36582062-36583824	MCF10A-Er-Src	breast:	n/a	n/a
30	POLR2A	chr2:36582472-36583174	H1-neurons	neurons:	n/a	n/a
31	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
32	MAZ	chr2:36582258-36585263	HepG2	liver:	n/a	chr2:36583787-36583797 chr2:36583171-36583181 chr2:36582816-36582825
33	POLR2A	chr2:36582825-36583165	ECC-1	luminal epithelium:	n/a	n/a
34	POLR2A	chr2:36582364-36584323	A549	lung:	n/a	n/a
35	TCF12	chr2:36581573-36583314	A549	lung:	n/a	n/a
36	SIN3A	chr2:36581674-36585662	H1-hESC	embryonic stem cell:	n/a	chr2:36583069-36583082 chr2:36582118-36582126
37	MAZ	chr2:36581703-36585862	IMR90	lung:	n/a	chr2:36583787-36583797 chr2:36583171-36583181 chr2:36582816-36582825
38	POLR2A	chr2:36582578-36583299	GM18505	blood:	n/a	n/a
39	POLR2A	chr2:36582492-36583334	MCF-7	breast:	n/a	n/a
40	CREB1	chr2:36582690-36583167	H1-hESC	embryonic stem cell:	n/a	n/a
41	CHD1	chr2:36581051-36590233	IMR90	lung:	n/a	chr2:36584898-36584908
42	RAD21	chr2:36582783-36583125	SK-N-SH_RA	brain:	n/a	n/a
43	TAF1	chr2:36582630-36583203	A549	lung:	n/a	n/a
44	POLR2A	chr2:36582775-36583141	A549	lung:	n/a	n/a
45	MXI1	chr2:36581371-36586962	IMR90	lung:	n/a	chr2:36583794-36583803
46	MAX	chr2:36581645-36586064	A549	lung:	n/a	chr2:36583787-36583797 chr2:36583171-36583181 chr2:36582816-36582825
47	POLR2A	chr2:36582380-36584385	MCF-7	breast:	n/a	n/a
48	FOXA1	chr2:36582606-36583208	HepG2	liver:	n/a	n/a
49	TAF1	chr2:36582824-36583219	H1-hESC	embryonic stem cell:	n/a	n/a
50	EP300	chr2:36582463-36583163	HepG2	liver:	n/a	chr2:36582660-36582676 chr2:36583082-36583098 chr2:36583107-36583116 chr2:36583068-36583077 chr2:36583066-36583075 chr2:36583069-36583085 chr2:36583070-36583086

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:36583117-36583167	AG04449	skin:	fetal
2	chr2:36583117-36583167	GM19239	blood:	n/a
3	chr2:36583117-36583167	AG10803	skin:	n/a
4	chr2:36583117-36583167	LNCaP	prostate:	n/a
5	chr2:36583117-36583167	BJ	skin:	n/a
6	chr2:36583117-36583167	BE2_C	brain:	n/a
7	chr2:36583117-36583167	AG09309	skin:	n/a
8	chr2:36583117-36583167	HCPEpiC	choroid plexus:	n/a
9	chr2:36583117-36583167	HL-60	blood:	n/a
10	chr2:36583117-36583167	ProgFib	skin:	n/a
11	chr2:36583117-36583167	HCM	heart:	n/a
12	chr2:36583117-36583167	Hepatocyte	liver:	n/a
13	chr2:36583117-36583167	CMK	blood:	n/a
14	chr2:36583117-36583167	AG09319	gingival:	n/a
15	chr2:36583117-36583167	Caco-2	colon:	n/a
16	chr2:36583117-36583167	HCT-116	colon:	n/a
17	chr2:36583117-36583167	MCF10A-Er-Src	breast:	n/a
18	chr2:36583117-36583167	NB4	blood:	n/a
19	chr2:36583117-36583167	HPAEpiC	pulmonary alveolar:	n/a
20	chr2:36583117-36583167	K562	blood:	n/a
21	chr2:36583117-36583167	HCF	heart:	n/a
22	chr2:36583117-36583167	PFSK-1	brain:	n/a
23	chr2:36583117-36583167	HEK293	kidney:	embryo
24	chr2:36583117-36583167	HMEC	breast:	n/a
25	chr2:36583117-36583167	HIPEpiC	eye:	n/a
26	chr2:36583117-36583167	GM12878	blood:	n/a
27	chr2:36583117-36583167	AG04450	lung:	fetal
28	chr2:36583117-36583167	PANC-1	pancreas:	n/a
29	chr2:36583117-36583167	NT2-D1	testis:	n/a
30	chr2:36583117-36583167	HepG2	liver:	n/a
31	chr2:36583117-36583167	HEEpiC	esophagus:	n/a
32	chr2:36583117-36583167	HRPEpiC	eye:	n/a
33	chr2:36583117-36583167	GM12891	blood:	n/a
34	chr2:36583117-36583167	ovcar-3	ovarian:	n/a
35	chr2:36583117-36583167	NHDF-neo	bronchial:	n/a
36	chr2:36583117-36583167	A549	lung:	n/a
37	chr2:36583117-36583167	HAEpiC	amniotic membrane:	n/a
38	chr2:36583117-36583167	MCF-7	breast:	n/a
39	chr2:36583117-36583167	HRCEpiC	kidney:	n/a
40	chr2:36583117-36583167	RPTEC	kidney:	n/a
41	chr2:36583117-36583167	GM06990	blood:	n/a
42	chr2:36583117-36583167	PrEC	prostate:	n/a
43	chr2:36583117-36583167	IMR90	lung:	fetal
44	chr2:36583117-36583167	HNPCEpiC	eye:	n/a
45	chr2:36583117-36583167	NH-A	brain:	n/a
46	chr2:36583117-36583167	ECC-1	luminal epithelium:	n/a
47	chr2:36583117-36583167	HRE	kidney:	n/a
48	chr2:36583117-36583167	AoSMC	blood vessel:	n/a
49	chr2:36583117-36583167	GM12892	blood:	n/a
50	chr2:36583117-36583167	T-47D	breast:	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:36582902..36585503-chr2:36823410..36825462,3	MCF-7	breast:
2	chr2:36582124..36584781-chr2:36595194..36598033,3	MCF-7	breast:

Variant related genes	Relation type
CRIM1	TF binding region
ENSG00000260025	TF binding region
ENSG00000260025	CpG island
CRIM1	CpG island
ENSG00000171055	Chromatin interaction
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:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:36581200-36586400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr2:36581400-36585800	Active TSS	Fetal Brain Female	brain
3	chr2:36581400-36586400	Active TSS	ES-I3 Cell Line	embryonic stem cell
4	chr2:36581600-36584400	Active TSS	Rectal Mucosa Donor 29	rectum
5	chr2:36581600-36585000	Active TSS	Rectal Smooth Muscle	rectum
6	chr2:36581600-36585400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr2:36581800-36583800	Active TSS	NHLF	lung
8	chr2:36581800-36585400	Active TSS	Fetal Intestine Large	intestine
9	chr2:36581800-36585400	Active TSS	Pancreatic Islets	Pancreatic Islet
10	chr2:36581800-36585600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
11	chr2:36581800-36585600	Active TSS	Fetal Stomach	stomach
12	chr2:36581800-36587000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr2:36581800-36587000	Active TSS	Aorta	Aorta
14	chr2:36582000-36583400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr2:36582000-36583400	Active TSS	Pancreas	Pancrea
16	chr2:36582000-36583600	Active TSS	Right Ventricle	heart
17	chr2:36582000-36584000	Active TSS	Colonic Mucosa	Colon
18	chr2:36582000-36584000	Active TSS	A549	lung
19	chr2:36582000-36584400	Active TSS	Duodenum Smooth Muscle	Duodenum
20	chr2:36582000-36585000	Active TSS	Brain Substantia Nigra	brain
21	chr2:36582000-36585200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr2:36582000-36585200	Active TSS	Esophagus	oesophagus
23	chr2:36582000-36585200	Active TSS	Fetal Kidney	kidney
24	chr2:36582000-36585400	Active TSS	H9 Cell Line	embryonic stem cell
25	chr2:36582000-36585400	Active TSS	Brain Cingulate Gyrus	brain
26	chr2:36582000-36585600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr2:36582000-36585600	Active TSS	Brain Inferior Temporal Lobe	brain
28	chr2:36582000-36585600	Active TSS	NH-A	brain
29	chr2:36582000-36585800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
30	chr2:36582000-36585800	Active TSS	Lung	lung
31	chr2:36582000-36586000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr2:36582000-36586000	Active TSS	HSMM	muscle
33	chr2:36582000-36586200	Active TSS	Psoas Muscle	Psoas
34	chr2:36582000-36586400	Active TSS	Right Atrium	heart
35	chr2:36582000-36586400	Active TSS	NHDF-Ad	bronchial
36	chr2:36582000-36586400	Active TSS	NHEK	skin
37	chr2:36582000-36586600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr2:36582000-36587000	Active TSS	Breast Myoepithelial Primary Cells	Breast
39	chr2:36582200-36583400	Active TSS	Primary T cells from cord blood	blood
40	chr2:36582200-36583400	Bivalent/Poised TSS	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr2:36582200-36583800	Active TSS	Primary T killer naive cells fromperipheralblood	blood
42	chr2:36582200-36584000	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
43	chr2:36582200-36584000	Active TSS	Cortex derived primary cultured neurospheres	brain
44	chr2:36582200-36584200	Active TSS	Fetal Lung	lung
45	chr2:36582200-36584600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr2:36582200-36584600	Active TSS	Sigmoid Colon	Sigmoid Colon
47	chr2:36582200-36585000	Active TSS	Brain Anterior Caudate	brain
48	chr2:36582200-36585000	Active TSS	Brain Hippocampus Middle	brain
49	chr2:36582200-36585000	Active TSS	Gastric	stomach
50	chr2:36582200-36585000	Active TSS	Spleen	Spleen

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