Variant report

Variant	rs373818691
Chromosome Location	chr2:20212738-20212739
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	POLR2A	chr2:20212524-20212752	HepG2	liver:	n/a	n/a
2	POLR2A	chr2:20212260-20212811	HepG2	liver:	n/a	n/a
3	CTBP2	chr2:20212493-20212832	H1-hESC	embryonic stem cell:	n/a	n/a
4	POLR2A	chr2:20211998-20212835	A549	lung:	n/a	n/a
5	POLR2A	chr2:20212050-20212781	A549	lung:	n/a	n/a
6	ZBTB7A	chr2:20212536-20212938	HepG2	liver:	n/a	n/a
7	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
8	TEAD4	chr2:20212283-20213452	HepG2	liver:	n/a	n/a
9	CEBPB	chr2:20212541-20212819	HepG2	liver:	n/a	n/a
10	TAF1	chr2:20212474-20212921	H1-hESC	embryonic stem cell:	n/a	n/a
11	POLR2A	chr2:20212291-20212758	HUVEC	blood vessel:	n/a	n/a
12	REST	chr2:20212729-20213197	HepG2	liver:	n/a	chr2:20213066-20213079
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	POLR2A	chr2:20212440-20212854	HepG2	liver:	n/a	n/a
16	TEAD4	chr2:20212401-20212839	ECC-1	luminal epithelium:	n/a	n/a
17	E2F6	chr2:20211866-20212879	A549	lung:	n/a	chr2:20212761-20212771 chr2:20212148-20212160
18	POLR2A	chr2:20212452-20212771	ECC-1	luminal epithelium:	n/a	n/a
19	E2F6	chr2:20212309-20212771	A549	lung:	n/a	chr2:20212761-20212771
20	MAX	chr2:20211686-20213307	A549	lung:	n/a	n/a
21	ZBTB7A	chr2:20212319-20213092	ECC-1	luminal epithelium:	n/a	n/a
22	SIN3A	chr2:20211979-20213337	H1-hESC	embryonic stem cell:	n/a	n/a
23	FOXP2	chr2:20212017-20212856	PFSK-1	brain:	n/a	n/a
24	YY1	chr2:20212404-20212761	H1-hESC	embryonic stem cell:	n/a	chr2:20212696-20212707 chr2:20212724-20212738 chr2:20212699-20212713
25	TAF1	chr2:20212416-20212795	ECC-1	luminal epithelium:	n/a	n/a
26	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
27	TEAD4	chr2:20212343-20212809	H1-hESC	embryonic stem cell:	n/a	n/a
28	HEY1	chr2:20212323-20212964	HepG2	liver:	n/a	n/a
29	PAX5	chr2:20212536-20212838	GM12892	blood:	n/a	chr2:20212704-20212722
30	POLR2A	chr2:20212458-20212740	H1-hESC	embryonic stem cell:	n/a	n/a
31	FOXA1	chr2:20212290-20213320	HepG2	liver:	n/a	n/a
32	POLR2A	chr2:20212074-20212778	HUVEC	blood vessel:	n/a	n/a
33	FOXA2	chr2:20212313-20212817	A549	lung:	n/a	n/a
34	TBP	chr2:20211750-20212781	H1-hESC	embryonic stem cell:	n/a	n/a
35	FOXA2	chr2:20212240-20212845	A549	lung:	n/a	n/a
36	POLR2A	chr2:20212157-20212806	HepG2	liver:	n/a	n/a
37	FOXA1	chr2:20212317-20213341	HepG2	liver:	n/a	n/a
38	MAX	chr2:20212353-20212959	A549	lung:	n/a	n/a
39	MAX	chr2:20212305-20212751	SK-N-SH	brain:	n/a	n/a
40	POLR2A	chr2:20212331-20212793	HUVEC	blood vessel:	n/a	n/a
41	POLR2A	chr2:20212345-20212781	Gliobla	brain:	n/a	n/a
42	CEBPB	chr2:20212535-20212750	IMR90	lung:	n/a	n/a
43	POLR2A	chr2:20212119-20212797	MCF-7	breast:	n/a	n/a
44	MAX	chr2:20212378-20212753	HepG2	liver:	n/a	n/a
45	JUND	chr2:20212616-20212760	H1-hESC	embryonic stem cell:	n/a	n/a
46	YY1	chr2:20211741-20212886	HepG2	liver:	n/a	chr2:20212696-20212707 chr2:20212724-20212738 chr2:20212699-20212713
47	ZBTB7A	chr2:20212411-20212892	HepG2	liver:	n/a	n/a
48	SIN3AK20	chr2:20211950-20212806	PANC-1	pancreas:	n/a	n/a
49	POLR2A	chr2:20212071-20212756	HepG2	liver:	n/a	n/a
50	CEBPB	chr2:20212498-20212957	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:20188544..20190994-chr2:20211302..20213941,2	MCF-7	breast:
2	chr2:20212605..20214922-chr2:20216980..20220655,3	MCF-7	breast:
3	chr2:20212620..20214988-chr2:20250395..20252051,2	MCF-7	breast:
4	chr2:20196234..20199275-chr2:20211073..20214096,3	MCF-7	breast:
5	chr11:356190..356865-chr2:20212456..20212956,2	MCF-7	breast:
6	chr2:20187710..20189541-chr2:20212607..20214933,2	K562	blood:
7	chr2:20208645..20229804-chr2:20247969..20254330,37	MCF-7	breast:
8	chr2:20187189..20189541-chr2:20212582..20214933,2	K562	blood:

Variant related genes	Relation type
MATN3	TF binding region
ENSG00000223734	Chromatin interaction
ENSG00000227210	Chromatin interaction
ENSG00000118965	Chromatin interaction
ENSG00000068697	Chromatin interaction
ENSG00000132031	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:121 , 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	chr2:20211800-20212800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr2:20211800-20212800	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr2:20211800-20212800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr2:20211800-20213000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
11	chr2:20211800-20213000	Bivalent/Poised TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr2:20211800-20213000	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
13	chr2:20211800-20213000	Active TSS	HSMM	muscle
14	chr2:20211800-20213200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr2:20211800-20213200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr2:20211800-20213200	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
17	chr2:20211800-20213200	Enhancers	Fetal Heart	heart
18	chr2:20211800-20213200	Enhancers	Spleen	Spleen
19	chr2:20212000-20212800	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
20	chr2:20212000-20212800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
21	chr2:20212000-20212800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
22	chr2:20212000-20212800	Flanking Active TSS	Primary hematopoietic stem cells	blood
23	chr2:20212000-20212800	Active TSS	Primary T helper naive cells fromperipheralblood	blood
24	chr2:20212000-20212800	Active TSS	Brain Cingulate Gyrus	brain
25	chr2:20212000-20212800	Active TSS	A549	lung
26	chr2:20212000-20212800	Active TSS	Hela-S3	cervix
27	chr2:20212000-20213000	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
28	chr2:20212000-20213000	Active TSS	Breast Myoepithelial Primary Cells	Breast
29	chr2:20212000-20213000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr2:20212000-20213000	Bivalent/Poised TSS	Primary mononuclear cells fromperipheralblood	Blood
31	chr2:20212000-20213000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
32	chr2:20212000-20213000	Active TSS	Colon Smooth Muscle	Colon
33	chr2:20212000-20213000	Bivalent/Poised TSS	Fetal Stomach	stomach
34	chr2:20212000-20213000	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
35	chr2:20212000-20213000	Active TSS	Rectal Smooth Muscle	rectum
36	chr2:20212000-20213000	Flanking Active TSS	Stomach Smooth Muscle	stomach
37	chr2:20212000-20213000	Active TSS	NH-A	brain
38	chr2:20212000-20213200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
39	chr2:20212000-20213200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr2:20212000-20213200	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
41	chr2:20212000-20213400	Enhancers	Placenta	Placenta
42	chr2:20212200-20212800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr2:20212200-20212800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr2:20212200-20212800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr2:20212200-20212800	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr2:20212200-20212800	Active TSS	Pancreatic Islets	Pancreatic Islet
47	chr2:20212200-20212800	Active TSS	K562	blood
48	chr2:20212200-20212800	Active TSS	NHDF-Ad	bronchial
49	chr2:20212200-20212800	Active TSS	NHEK	skin
50	chr2:20212200-20212800	Active TSS	Osteobl	bone

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