Variant report

Variant	rs548484365
Chromosome Location	chr2:234263800-234263801
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:21)
CpG islands
(count:61)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:21 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RCOR1	chr2:234263792-234263858	HepG2	liver:	n/a	n/a
2	POLR2A	chr2:234263694-234264275	MCF-7	breast:	n/a	n/a
3	MAZ	chr2:234262464-234264013	IMR90	lung:	n/a	chr2:234263057-234263067 chr2:234262959-234262969 chr2:234263026-234263035
4	BHLHE40	chr2:234263584-234263970	GM12878	blood:	n/a	chr2:234263690-234263706 chr2:234263683-234263699
5	SIN3A	chr2:234263645-234264237	H1-hESC	embryonic stem cell:	n/a	chr2:234264179-234264190
6	MAX	chr2:234263579-234264404	A549	lung:	n/a	n/a
7	SIN3AK20	chr2:234263539-234263964	PANC-1	pancreas:	n/a	n/a
8	HMGN3	chr2:234263606-234263806	K562	blood:	n/a	n/a
9	MAX	chr2:234263790-234263956	Hela-S3	cervix:	n/a	n/a
10	BACH1	chr2:234263723-234263984	H1-hESC	embryonic stem cell:	n/a	n/a
11	CHD2	chr2:234263733-234263918	GM12878	blood:	n/a	n/a
12	MAX	chr2:234263576-234263832	K562	blood:	n/a	n/a
13	MAZ	chr2:234263644-234263840	K562	blood:	n/a	n/a
14	CHD1	chr2:234263792-234263916	H1-hESC	embryonic stem cell:	n/a	n/a
15	POLR2A	chr2:234261829-234264046	GM18951	blood:	n/a	n/a
16	MTA3	chr2:234263600-234264254	GM12878	blood:	n/a	n/a
17	ZNF263	chr2:234263654-234264339	HEK293-T-REx	kidney:	n/a	chr2:234263831-234263852
18	MXI1	chr2:234262293-234264155	IMR90	lung:	n/a	chr2:234262351-234262360 chr2:234264104-234264113
19	MAX	chr2:234263734-234264112	NB4	blood:	n/a	n/a
20	MYC	chr2:234263681-234263967	K562	blood:	n/a	n/a
21	WRNIP1	chr2:234263767-234264091	GM12878	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:234263768-234263818	Caco-2	colon:	n/a
2	chr2:234263768-234263818	AoSMC	blood vessel:	n/a
3	chr2:234263768-234263818	HIPEpiC	eye:	n/a
4	chr2:234263768-234263818	BE2_C	brain:	n/a
5	chr2:234263768-234263818	AG04450	lung:	fetal
6	chr2:234263768-234263818	BJ	skin:	n/a
7	chr2:234263768-234263818	T-47D	breast:	n/a
8	chr2:234263768-234263818	RPTEC	kidney:	n/a
9	chr2:234263768-234263818	HAEpiC	amniotic membrane:	n/a
10	chr2:234263768-234263818	HCT-116	colon:	n/a
11	chr2:234263768-234263818	HRPEpiC	eye:	n/a
12	chr2:234263768-234263818	AG10803	skin:	n/a
13	chr2:234263768-234263818	NB4	blood:	n/a
14	chr2:234263768-234263818	PFSK-1	brain:	n/a
15	chr2:234263768-234263818	SKMC	muscle:	n/a
16	chr2:234263768-234263818	PANC-1	pancreas:	n/a
17	chr2:234263768-234263818	AG09309	skin:	n/a
18	chr2:234263768-234263818	NHBE	bronchial:	n/a
19	chr2:234263768-234263818	SK-N-SH_RA	brain:	n/a
20	chr2:234263768-234263818	Hela-S3	cervix:	n/a
21	chr2:234263768-234263818	SK-N-SH	brain:	n/a
22	chr2:234263768-234263818	HepG2	liver:	n/a
23	chr2:234263768-234263818	NH-A	brain:	n/a
24	chr2:234263768-234263818	ProgFib	skin:	n/a
25	chr2:234263768-234263818	Hepatocyte	liver:	n/a
26	chr2:234263768-234263818	U87	brain:	n/a
27	chr2:234263768-234263818	GM12878	blood:	n/a
28	chr2:234263768-234263818	Jurkat	blood:	n/a
29	chr2:234263768-234263818	AG04449	skin:	fetal
30	chr2:234263768-234263818	SAEC	small airway:	n/a
31	chr2:234263768-234263818	GM19239	blood:	n/a
32	chr2:234263768-234263818	MCF10A-Er-Src	breast:	n/a
33	chr2:234263768-234263818	HL-60	blood:	n/a
34	chr2:234263768-234263818	ovcar-3	ovarian:	n/a
35	chr2:234263768-234263818	HEEpiC	esophagus:	n/a
36	chr2:234263768-234263818	GM12892	blood:	n/a
37	chr2:234263768-234263818	GM06990	blood:	n/a
38	chr2:234263768-234263818	HMEC	breast:	n/a
39	chr2:234263768-234263818	HCF	heart:	n/a
40	chr2:234263768-234263818	HRE	kidney:	n/a
41	chr2:234263768-234263818	ECC-1	luminal epithelium:	n/a
42	chr2:234263768-234263818	NHDF-neo	bronchial:	n/a
43	chr2:234263768-234263818	LNCaP	prostate:	n/a
44	chr2:234263768-234263818	HNPCEpiC	eye:	n/a
45	chr2:234263768-234263818	K562	blood:	n/a
46	chr2:234263768-234263818	A549	lung:	n/a
47	chr2:234263768-234263818	NT2-D1	testis:	n/a
48	chr2:234263768-234263818	HCM	heart:	n/a
49	chr2:234263768-234263818	HRCEpiC	kidney:	n/a
50	chr2:234263768-234263818	CMK	blood:	n/a

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:234238246..234240780-chr2:234263095..234264681,2	K562	blood:
2	chr2:234198551..234200102-chr2:234262598..234264638,2	MCF-7	breast:
3	chr2:234195095..234197515-chr2:234263227..234265841,2	MCF-7	breast:
4	chr2:234242282..234244298-chr2:234262922..234265541,2	MCF-7	breast:
5	chr2:234245499..234247293-chr2:234261946..234264130,2	K562	blood:
6	chr2:234263404..234265699-chr2:234319043..234321996,3	MCF-7	breast:
7	chr2:234263725..234265766-chr2:234287688..234290576,3	MCF-7	breast:
8	chr2:234259434..234265610-chr2:234290886..234296562,9	MCF-7	breast:
9	chr2:234160002..234161727-chr2:234263204..234265213,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000259793	TF binding region
ENSG00000259793	CpG island
ENSG00000130561	Chromatin interaction
ENSG00000085978	Chromatin interaction
ENSG00000251791	Chromatin interaction
ENSG00000077044	Chromatin interaction
ENSG00000201013	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv584700	chr2:234199401-234364426	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv1002075	chr2:234225979-234277508	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv529419	chr2:234229606-234670426	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
4	nsv460135	chr2:234242347-234288048	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv584701	chr2:234242347-234288048	ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv460136	chr2:234244395-234288048	Weak transcription Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
7	nsv584702	chr2:234244395-234288048	Flanking Active TSS Bivalent/Poised TSS Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
8	esv3421822	chr2:234262038-234264786	Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
9	esv3363039	chr2:234262388-234264686	Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
10	esv1796836	chr2:234263212-234266842	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
11	esv1820563	chr2:234263212-234282210	Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:180 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:234262000-234263800	Active TSS	H9 Cell Line	embryonic stem cell
2	chr2:234262200-234264000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
3	chr2:234262200-234264000	Active TSS	Rectal Smooth Muscle	rectum
4	chr2:234262200-234264200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
5	chr2:234262400-234263800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr2:234262400-234263800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr2:234262400-234264200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr2:234262400-234264400	Active TSS	Fetal Kidney	kidney
9	chr2:234262400-234265000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
10	chr2:234262600-234263800	Active TSS	Spleen	Spleen
11	chr2:234262600-234264000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
12	chr2:234262600-234264000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr2:234262600-234264000	Active TSS	Colon Smooth Muscle	Colon
14	chr2:234262600-234264000	Active TSS	Lung	lung
15	chr2:234262600-234264000	Bivalent/Poised TSS	HepG2	liver
16	chr2:234262600-234264200	Active TSS	Aorta	Aorta
17	chr2:234262600-234264200	Active TSS	Gastric	stomach
18	chr2:234262600-234264600	Active TSS	Pancreatic Islets	Pancreatic Islet
19	chr2:234262600-234265000	Active TSS	Duodenum Smooth Muscle	Duodenum
20	chr2:234262800-234263800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr2:234262800-234263800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr2:234262800-234263800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr2:234262800-234263800	Active TSS	Primary neutrophils fromperipheralblood	blood
24	chr2:234262800-234263800	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
25	chr2:234262800-234263800	Active TSS	Primary T helper cells fromperipheralblood	blood
26	chr2:234262800-234263800	Active TSS	Primary T regulatory cells fromperipheralblood	blood
27	chr2:234262800-234263800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr2:234262800-234263800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr2:234262800-234263800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr2:234262800-234263800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr2:234262800-234263800	Active TSS	Brain Anterior Caudate	brain
32	chr2:234262800-234263800	Active TSS	Brain Cingulate Gyrus	brain
33	chr2:234262800-234263800	Active TSS	Brain Inferior Temporal Lobe	brain
34	chr2:234262800-234263800	Active TSS	Brain Substantia Nigra	brain
35	chr2:234262800-234263800	Active TSS	Duodenum Mucosa	Duodenum
36	chr2:234262800-234263800	Active TSS	Fetal Adrenal Gland	Adrenal Gland
37	chr2:234262800-234263800	Active TSS	Fetal Muscle Leg	muscle
38	chr2:234262800-234263800	Active TSS	Fetal Stomach	stomach
39	chr2:234262800-234263800	Active TSS	Right Ventricle	heart
40	chr2:234262800-234263800	Active TSS	Skeletal Muscle Female	skeletal muscle
41	chr2:234262800-234263800	Weak transcription	Stomach Mucosa	stomach
42	chr2:234262800-234263800	Active TSS	Stomach Smooth Muscle	stomach
43	chr2:234262800-234263800	Active TSS	HUVEC	blood vessel
44	chr2:234262800-234263800	Active TSS	Osteobl	bone
45	chr2:234262800-234264000	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
46	chr2:234262800-234264000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr2:234262800-234264000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr2:234262800-234264000	Active TSS	Primary B cells from peripheral blood	blood
49	chr2:234262800-234264000	Active TSS	Primary T cells from cord blood	blood
50	chr2:234262800-234264000	Active TSS	Primary T helper memory cells from peripheral blood 2	blood

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