Variant report

Variant	rs188620236
Chromosome Location	chr2:20212468-20212469
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:85)
CpG islands
(count:122)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:85 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr2:20212260-20212811	HepG2	liver:	n/a	n/a
2	FOXA2	chr2:20212421-20212688	HepG2	liver:	n/a	n/a
3	POLR2A	chr2:20211998-20212835	A549	lung:	n/a	n/a
4	POLR2A	chr2:20212050-20212781	A549	lung:	n/a	n/a
5	POLR2A	chr2:20212434-20212680	H1-hESC	embryonic stem cell:	n/a	n/a
6	HDAC2	chr2:20212028-20213272	HepG2	liver:	n/a	chr2:20212924-20212938 chr2:20212921-20212935 chr2:20212926-20212940 chr2:20212917-20212931 chr2:20212920-20212934 chr2:20212925-20212939
7	TEAD4	chr2:20212283-20213452	HepG2	liver:	n/a	n/a
8	MAX	chr2:20212340-20212618	K562	blood:	n/a	n/a
9	SIN3AK20	chr2:20212162-20212724	SK-N-SH	brain:	n/a	n/a
10	POLR2A	chr2:20212291-20212758	HUVEC	blood vessel:	n/a	n/a
11	MAX	chr2:20212430-20212725	Hela-S3	cervix:	n/a	n/a
12	CREB1	chr2:20212164-20212716	A549	lung:	n/a	n/a
13	TEAD4	chr2:20212330-20212861	H1-hESC	embryonic stem cell:	n/a	n/a
14	HEY1	chr2:20211853-20212959	HepG2	liver:	n/a	chr2:20211886-20211901
15	MXI1	chr2:20211955-20212704	HepG2	liver:	n/a	n/a
16	EP300	chr2:20212452-20212566	HepG2	liver:	n/a	n/a
17	POLR2A	chr2:20212440-20212854	HepG2	liver:	n/a	n/a
18	TEAD4	chr2:20212401-20212839	ECC-1	luminal epithelium:	n/a	n/a
19	E2F6	chr2:20211866-20212879	A549	lung:	n/a	chr2:20212761-20212771 chr2:20212148-20212160
20	POLR2A	chr2:20212452-20212771	ECC-1	luminal epithelium:	n/a	n/a
21	E2F6	chr2:20212309-20212771	A549	lung:	n/a	chr2:20212761-20212771
22	MAX	chr2:20211686-20213307	A549	lung:	n/a	n/a
23	ZBTB7A	chr2:20212319-20213092	ECC-1	luminal epithelium:	n/a	n/a
24	SIN3A	chr2:20211979-20213337	H1-hESC	embryonic stem cell:	n/a	n/a
25	FOXP2	chr2:20212017-20212856	PFSK-1	brain:	n/a	n/a
26	POLR2A	chr2:20212280-20212707	HepG2	liver:	n/a	n/a
27	YY1	chr2:20212404-20212761	H1-hESC	embryonic stem cell:	n/a	chr2:20212696-20212707 chr2:20212724-20212738 chr2:20212699-20212713
28	TAF1	chr2:20212416-20212795	ECC-1	luminal epithelium:	n/a	n/a
29	NR3C1	chr2:20212366-20213341	A549	lung:	n/a	chr2:20213072-20213086 chr2:20213071-20213087 chr2:20213071-20213086 chr2:20213069-20213090 chr2:20213071-20213087 chr2:20213071-20213087 chr2:20213071-20213087 chr2:20213072-20213086 chr2:20213071-20213088
30	TAF1	chr2:20212458-20212649	H1-hESC	embryonic stem cell:	n/a	n/a
31	FOXA1	chr2:20212375-20212683	T-47D	breast:	n/a	n/a
32	TEAD4	chr2:20212343-20212809	H1-hESC	embryonic stem cell:	n/a	n/a
33	HEY1	chr2:20212323-20212964	HepG2	liver:	n/a	n/a
34	POLR2A	chr2:20212458-20212740	H1-hESC	embryonic stem cell:	n/a	n/a
35	BACH1	chr2:20212407-20212580	H1-hESC	embryonic stem cell:	n/a	n/a
36	FOXA1	chr2:20212290-20213320	HepG2	liver:	n/a	n/a
37	POLR2A	chr2:20212074-20212778	HUVEC	blood vessel:	n/a	n/a
38	FOXA2	chr2:20212313-20212817	A549	lung:	n/a	n/a
39	TBP	chr2:20211750-20212781	H1-hESC	embryonic stem cell:	n/a	n/a
40	TEAD4	chr2:20212455-20212716	HepG2	liver:	n/a	n/a
41	FOXA2	chr2:20212240-20212845	A549	lung:	n/a	n/a
42	POLR2A	chr2:20212157-20212806	HepG2	liver:	n/a	n/a
43	FOXA1	chr2:20212317-20213341	HepG2	liver:	n/a	n/a
44	MAX	chr2:20212353-20212959	A549	lung:	n/a	n/a
45	E2F6	chr2:20212338-20212574	K562	blood:	n/a	n/a
46	MAX	chr2:20212305-20212751	SK-N-SH	brain:	n/a	n/a
47	POLR2A	chr2:20212331-20212793	HUVEC	blood vessel:	n/a	n/a
48	POLR2A	chr2:20212345-20212781	Gliobla	brain:	n/a	n/a
49	POLR2A	chr2:20212119-20212797	MCF-7	breast:	n/a	n/a
50	MAX	chr2:20212378-20212753	HepG2	liver:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:20212423-20212473	ECC-1	luminal epithelium:	n/a
2	chr2:20212423-20212473	RPTEC	kidney:	n/a
3	chr2:20212423-20212473	Jurkat	blood:	n/a
4	chr2:20212423-20212473	HUVEC	blood vessel:	n/a
5	chr2:20212440-20212490	HepG2	liver:	n/a
6	chr2:20212423-20212473	AG04450	lung:	fetal
7	chr2:20212440-20212490	ovcar-3	ovarian:	n/a
8	chr2:20212440-20212490	U87	brain:	n/a
9	chr2:20212440-20212490	HRCEpiC	kidney:	n/a
10	chr2:20212440-20212490	RPTEC	kidney:	n/a
11	chr2:20212440-20212490	BJ	skin:	n/a
12	chr2:20212423-20212473	SK-N-SH	brain:	n/a
13	chr2:20212440-20212490	HMEC	breast:	n/a
14	chr2:20212423-20212473	HMEC	breast:	n/a
15	chr2:20212440-20212490	NHBE	bronchial:	n/a
16	chr2:20212440-20212490	IMR90	lung:	fetal
17	chr2:20212423-20212473	IMR90	lung:	fetal
18	chr2:20212423-20212473	SAEC	small airway:	n/a
19	chr2:20212423-20212473	K562	blood:	n/a
20	chr2:20212423-20212473	NT2-D1	testis:	n/a
21	chr2:20212423-20212473	MCF10A-Er-Src	breast:	n/a
22	chr2:20212423-20212473	SK-N-SH_RA	brain:	n/a
23	chr2:20212423-20212473	AG04449	skin:	fetal
24	chr2:20212440-20212490	AoSMC	blood vessel:	n/a
25	chr2:20212423-20212473	HepG2	liver:	n/a
26	chr2:20212423-20212473	A549	lung:	n/a
27	chr2:20212440-20212490	HNPCEpiC	eye:	n/a
28	chr2:20212440-20212490	HUVEC	blood vessel:	n/a
29	chr2:20212440-20212490	ProgFib	skin:	n/a
30	chr2:20212423-20212473	HCT-116	colon:	n/a
31	chr2:20212423-20212473	BE2_C	brain:	n/a
32	chr2:20212440-20212490	H1-hESC	embryonic stem cell:	embryo
33	chr2:20212423-20212473	PrEC	prostate:	n/a
34	chr2:20212440-20212490	AG09309	skin:	n/a
35	chr2:20212423-20212473	HEK293	kidney:	embryo
36	chr2:20212440-20212490	HCF	heart:	n/a
37	chr2:20212440-20212490	NHDF-neo	bronchial:	n/a
38	chr2:20212423-20212473	SK-N-MC	brain:	n/a
39	chr2:20212423-20212473	HRPEpiC	eye:	n/a
40	chr2:20212440-20212490	HRE	kidney:	n/a
41	chr2:20212440-20212490	GM12878	blood:	n/a
42	chr2:20212423-20212473	LNCaP	prostate:	n/a
43	chr2:20212423-20212473	AoSMC	blood vessel:	n/a
44	chr2:20212423-20212473	AG09319	gingival:	n/a
45	chr2:20212440-20212490	AG04450	lung:	fetal
46	chr2:20212440-20212490	PrEC	prostate:	n/a
47	chr2:20212423-20212473	ovcar-3	ovarian:	n/a
48	chr2:20212440-20212490	HPAEpiC	pulmonary alveolar:	n/a
49	chr2:20212423-20212473	HL-60	blood:	n/a
50	chr2:20212440-20212490	A549	lung:	n/a

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:20188544..20190994-chr2:20211302..20213941,2	MCF-7	breast:
2	chr2:20209928..20212604-chr2:20250418..20252144,2	MCF-7	breast:
3	chr2:20196234..20199275-chr2:20211073..20214096,3	MCF-7	breast:
4	chr11:356190..356865-chr2:20212456..20212956,2	MCF-7	breast:
5	chr2:20208645..20229804-chr2:20247969..20254330,37	MCF-7	breast:

No data

Variant related genes	Relation type
MATN3	TF binding region
MATN3	CpG island
ENSG00000227210	Chromatin interaction
ENSG00000132031	Chromatin interaction
ENSG00000068697	Chromatin interaction
ENSG00000223734	Chromatin interaction
ENSG00000118965	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1006404	chr2:20167688-20216509	Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS ZNF genes & repeats 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
2	nsv1011244	chr2:20174676-20216204	Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription 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
3	esv3327327	chr2:20211296-20213844	Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
4	esv3393710	chr2:20211621-20213469	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:20210400-20212800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr2:20211400-20213200	Active TSS	H9 Cell Line	embryonic stem cell
3	chr2:20211600-20212800	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr2:20211600-20212800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
5	chr2:20211600-20213000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
6	chr2:20211600-20213000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
7	chr2:20211800-20212600	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
8	chr2:20211800-20212600	Bivalent Enhancer	Primary B cells from peripheral blood	blood
9	chr2:20211800-20212600	Bivalent Enhancer	Primary T cells from cord blood	blood
10	chr2:20211800-20212600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
11	chr2:20211800-20212600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
12	chr2:20211800-20212600	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
13	chr2:20211800-20212600	Active TSS	Aorta	Aorta
14	chr2:20211800-20212600	Enhancers	Fetal Lung	lung
15	chr2:20211800-20212600	Active TSS	Right Ventricle	heart
16	chr2:20211800-20212800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr2:20211800-20212800	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr2:20211800-20212800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr2:20211800-20213000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
20	chr2:20211800-20213000	Bivalent/Poised TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr2:20211800-20213000	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
22	chr2:20211800-20213000	Active TSS	HSMM	muscle
23	chr2:20211800-20213200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr2:20211800-20213200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr2:20211800-20213200	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
26	chr2:20211800-20213200	Enhancers	Fetal Heart	heart
27	chr2:20211800-20213200	Enhancers	Spleen	Spleen
28	chr2:20212000-20212600	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr2:20212000-20212600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr2:20212000-20212600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
31	chr2:20212000-20212600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr2:20212000-20212600	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
33	chr2:20212000-20212600	Active TSS	Muscle Satellite Cultured Cells	--
34	chr2:20212000-20212600	Bivalent Enhancer	Fetal Brain Male	brain
35	chr2:20212000-20212600	Bivalent/Poised TSS	Fetal Intestine Small	intestine
36	chr2:20212000-20212600	Active TSS	Left Ventricle	heart
37	chr2:20212000-20212600	Active TSS	Psoas Muscle	Psoas
38	chr2:20212000-20212600	Active TSS	Right Atrium	heart
39	chr2:20212000-20212600	Bivalent Enhancer	GM12878-XiMat	blood
40	chr2:20212000-20212600	Active TSS	HepG2	liver
41	chr2:20212000-20212600	Active TSS	HSMMtube	muscle
42	chr2:20212000-20212800	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
43	chr2:20212000-20212800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
44	chr2:20212000-20212800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
45	chr2:20212000-20212800	Flanking Active TSS	Primary hematopoietic stem cells	blood
46	chr2:20212000-20212800	Active TSS	Primary T helper naive cells fromperipheralblood	blood
47	chr2:20212000-20212800	Active TSS	Brain Cingulate Gyrus	brain
48	chr2:20212000-20212800	Active TSS	A549	lung
49	chr2:20212000-20212800	Active TSS	Hela-S3	cervix
50	chr2:20212000-20213000	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell

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