Variant report

Variant	rs376620119
Chromosome Location	chr4:26862212-26862213
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:428)
CpG islands
(count:183)
Chromatin interactive
region (count:0)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:428 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	NFYB	chr4:26861962-26862769	K562	blood:	n/a	n/a
2	POLR2A	chr4:26861977-26862267	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr4:26861812-26862658	Hela-S3	cervix:	n/a	n/a
4	TEAD4	chr4:26861995-26862552	H1-hESC	embryonic stem cell:	n/a	n/a
5	POLR2A	chr4:26861478-26862812	HCT-116	colon:	n/a	n/a
6	HEY1	chr4:26861767-26862571	K562	blood:	n/a	chr4:26862282-26862297
7	CTCF	chr4:26862046-26862220	GM10266	blood:	n/a	n/a
8	RAD21	chr4:26861940-26862240	GM12878	blood:	n/a	n/a
9	CEBPD	chr4:26861939-26862311	HepG2	liver:	n/a	n/a
10	CTCF	chr4:26862100-26862250	A549	lung:	n/a	n/a
11	TBP	chr4:26861775-26862364	GM12878	blood:	n/a	n/a
12	POLR2A	chr4:26861961-26862560	A549	lung:	n/a	n/a
13	SIN3A	chr4:26862065-26863574	GM12878	blood:	n/a	n/a
14	YY1	chr4:26861998-26863568	GM12892	blood:	n/a	n/a
15	MYC	chr4:26861744-26863421	K562	blood:	n/a	n/a
16	ZNF143	chr4:26861819-26863610	GM12878	blood:	n/a	n/a
17	POLR2A	chr4:26861917-26863292	GM12878	blood:	n/a	n/a
18	POLR2A	chr4:26861978-26862520	A549	lung:	n/a	n/a
19	POLR2A	chr4:26861623-26862751	GM12891	blood:	n/a	n/a
20	REST	chr4:26861969-26862314	SK-N-SH	brain:	n/a	chr4:26862293-26862306
21	CTCF	chr4:26862034-26862239	Kidney_OC	kidney:	n/a	n/a
22	TAF1	chr4:26861961-26862321	GM12891	blood:	n/a	n/a
23	NFYB	chr4:26862193-26862792	GM12878	blood:	n/a	n/a
24	CTCF	chr4:26862038-26862218	MCF-7	breast:	n/a	n/a
25	EP300	chr4:26861855-26863567	SK-N-SH	brain:	n/a	n/a
26	NR2F2	chr4:26861749-26862442	K562	blood:	n/a	n/a
27	MXI1	chr4:26861480-26863616	HepG2	liver:	n/a	n/a
28	TAF1	chr4:26861978-26862516	HepG2	liver:	n/a	n/a
29	HEY1	chr4:26861983-26862616	HepG2	liver:	n/a	chr4:26862282-26862297
30	CTCF	chr4:26861907-26862529	H1-hESC	embryonic stem cell:	n/a	n/a
31	CTCF	chr4:26862100-26862250	K562	blood:	n/a	n/a
32	MYBL2	chr4:26861723-26862395	HepG2	liver:	n/a	n/a
33	KAP1	chr4:26861969-26862234	U2OS	brain:	n/a	n/a
34	CTCF	chr4:26862120-26862270	HFF	foreskin:	n/a	n/a
35	MAX	chr4:26861760-26863605	GM12878	blood:	n/a	n/a
36	E2F4	chr4:26861964-26862427	GM12878	blood:	n/a	chr4:26862287-26862296 chr4:26862263-26862272 chr4:26862312-26862321 chr4:26862284-26862294
37	POLR2A	chr4:26861881-26863450	GM12892	blood:	n/a	n/a
38	POLR2A	chr4:26861723-26862684	HCT-116	colon:	n/a	n/a
39	JUND	chr4:26862148-26862342	H1-hESC	embryonic stem cell:	n/a	chr4:26862311-26862320
40	POLR2A	chr4:26861729-26862627	HepG2	liver:	n/a	n/a
41	NFIC	chr4:26861890-26862357	HepG2	liver:	n/a	n/a
42	SP1	chr4:26861849-26862535	H1-hESC	embryonic stem cell:	n/a	chr4:26862242-26862254 chr4:26862244-26862253 chr4:26862242-26862254 chr4:26862243-26862252 chr4:26862312-26862321 chr4:26862308-26862322 chr4:26862164-26862175 chr4:26862244-26862253
43	ZBTB7A	chr4:26861824-26862592	K562	blood:	n/a	n/a
44	EP300	chr4:26861890-26862708	K562	blood:	n/a	n/a
45	ATF2	chr4:26861869-26862290	GM12878	blood:	n/a	n/a
46	CBX3	chr4:26861687-26862574	K562	blood:	n/a	n/a
47	TBP	chr4:26861551-26863177	K562	blood:	n/a	n/a
48	TAF1	chr4:26861939-26863342	H1-neurons	neurons:	n/a	n/a
49	REST	chr4:26861911-26862526	SK-N-SH	brain:	n/a	chr4:26862293-26862306 chr4:26862476-26862494
50	GATA3	chr4:26861788-26862397	T-47D	breast:	n/a	n/a

(count:183 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:26862197-26862247	HMEC	breast:	n/a
2	chr4:26862189-26862239	HUVEC	blood vessel:	n/a
3	chr4:26862197-26862247	AoSMC	blood vessel:	n/a
4	chr4:26862182-26862232	NHDF-neo	bronchial:	n/a
5	chr4:26862189-26862239	AG09309	skin:	n/a
6	chr4:26862189-26862239	HAEpiC	amniotic membrane:	n/a
7	chr4:26862189-26862239	Jurkat	blood:	n/a
8	chr4:26862182-26862232	GM12891	blood:	n/a
9	chr4:26862189-26862239	HepG2	liver:	n/a
10	chr4:26862182-26862232	ProgFib	skin:	n/a
11	chr4:26862189-26862239	HEK293	kidney:	embryo
12	chr4:26862189-26862239	NT2-D1	testis:	n/a
13	chr4:26862189-26862239	PrEC	prostate:	n/a
14	chr4:26862182-26862232	Caco-2	colon:	n/a
15	chr4:26862189-26862239	IMR90	lung:	fetal
16	chr4:26862182-26862232	ovcar-3	ovarian:	n/a
17	chr4:26862197-26862247	RPTEC	kidney:	n/a
18	chr4:26862197-26862247	SAEC	small airway:	n/a
19	chr4:26862189-26862239	Caco-2	colon:	n/a
20	chr4:26862197-26862247	LNCaP	prostate:	n/a
21	chr4:26862189-26862239	NB4	blood:	n/a
22	chr4:26862197-26862247	HCM	heart:	n/a
23	chr4:26862182-26862232	NHBE	bronchial:	n/a
24	chr4:26862182-26862232	NT2-D1	testis:	n/a
25	chr4:26862182-26862232	HAEpiC	amniotic membrane:	n/a
26	chr4:26862197-26862247	CMK	blood:	n/a
27	chr4:26862189-26862239	HL-60	blood:	n/a
28	chr4:26862189-26862239	CMK	blood:	n/a
29	chr4:26862182-26862232	Hepatocyte	liver:	n/a
30	chr4:26862182-26862232	SAEC	small airway:	n/a
31	chr4:26862182-26862232	GM12878	blood:	n/a
32	chr4:26862182-26862232	SK-N-MC	brain:	n/a
33	chr4:26862182-26862232	HepG2	liver:	n/a
34	chr4:26862197-26862247	NH-A	brain:	n/a
35	chr4:26862189-26862239	AG10803	skin:	n/a
36	chr4:26862197-26862247	PrEC	prostate:	n/a
37	chr4:26862182-26862232	AG09319	gingival:	n/a
38	chr4:26862182-26862232	HEK293	kidney:	embryo
39	chr4:26862197-26862247	HNPCEpiC	eye:	n/a
40	chr4:26862189-26862239	SAEC	small airway:	n/a
41	chr4:26862197-26862247	NT2-D1	testis:	n/a
42	chr4:26862189-26862239	HEEpiC	esophagus:	n/a
43	chr4:26862182-26862232	H1-hESC	embryonic stem cell:	embryo
44	chr4:26862197-26862247	HEK293	kidney:	embryo
45	chr4:26862189-26862239	T-47D	breast:	n/a
46	chr4:26862197-26862247	SKMC	muscle:	n/a
47	chr4:26862189-26862239	GM06990	blood:	n/a
48	chr4:26862182-26862232	GM19239	blood:	n/a
49	chr4:26862182-26862232	HCPEpiC	choroid plexus:	n/a
50	chr4:26862189-26862239	HPAEpiC	pulmonary alveolar:	n/a

No data

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CCKAR-1	chr4:26861963-26862221	XLOC_003912
2	lnc-CCKAR-1	chr4:26861963-26862284	NONHSAT095891
3	lnc-CCKAR-1	chr4:26862132-26862263	NONHSAT095890

No data

Variant related genes	Relation type
STIM2	TF binding region
ENSG00000240005	TF binding region
ENSG00000240005	CpG island
STIM2	CpG island

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	nsv470021	chr4:26721578-27067027	Active TSS Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv1001306	chr4:26821511-26955344	Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv461312	chr4:26844674-27078376	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv593872	chr4:26844674-27078376	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	esv3403917	chr4:26861379-26864227	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:26858600-26862800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr4:26860200-26864600	Active TSS	Fetal Muscle Trunk	muscle
3	chr4:26861200-26864000	Active TSS	Fetal Kidney	kidney
4	chr4:26861400-26862800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr4:26861400-26864200	Active TSS	H1 Cell Line	embryonic stem cell
6	chr4:26861400-26864400	Active TSS	Rectal Smooth Muscle	rectum
7	chr4:26861600-26863800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr4:26861600-26863800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr4:26861600-26863800	Active TSS	Gastric	stomach
10	chr4:26861600-26863800	Active TSS	Pancreas	Pancrea
11	chr4:26861600-26863800	Active TSS	Right Ventricle	heart
12	chr4:26861600-26864000	Active TSS	ES-I3 Cell Line	embryonic stem cell
13	chr4:26861600-26864000	Active TSS	Psoas Muscle	Psoas
14	chr4:26861600-26864200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr4:26861600-26864200	Active TSS	Aorta	Aorta
16	chr4:26861600-26864200	Active TSS	Fetal Intestine Large	intestine
17	chr4:26861600-26864200	Active TSS	Pancreatic Islets	Pancreatic Islet
18	chr4:26861600-26864400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr4:26861600-26864600	Active TSS	HSMM	muscle
20	chr4:26861600-26864800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
21	chr4:26861600-26865400	Active TSS	Breast Myoepithelial Primary Cells	Breast
22	chr4:26861600-26865400	Active TSS	Right Atrium	heart
23	chr4:26861600-26865800	Active TSS	NHLF	lung
24	chr4:26861800-26862400	Bivalent/Poised TSS	HepG2	liver
25	chr4:26861800-26863200	Active TSS	Thymus	Thymus
26	chr4:26861800-26863400	Active TSS	Placenta	Placenta
27	chr4:26861800-26863600	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr4:26861800-26863600	Active TSS	iPS-15b Cell Line	embryonic stem cell
29	chr4:26861800-26863600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
30	chr4:26861800-26863600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr4:26861800-26863600	Active TSS	Placenta Amnion	Placenta Amnion
32	chr4:26861800-26863600	Active TSS	Osteobl	bone
33	chr4:26861800-26863800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr4:26861800-26863800	Active TSS	H9 Cell Line	embryonic stem cell
35	chr4:26861800-26863800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr4:26861800-26863800	Active TSS	Esophagus	oesophagus
37	chr4:26861800-26863800	Active TSS	Left Ventricle	heart
38	chr4:26861800-26863800	Active TSS	Lung	lung
39	chr4:26861800-26863800	Active TSS	Sigmoid Colon	Sigmoid Colon
40	chr4:26861800-26863800	Active TSS	Small Intestine	intestine
41	chr4:26861800-26863800	Active TSS	Stomach Mucosa	stomach
42	chr4:26861800-26864000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr4:26861800-26864000	Active TSS	HUES48 Cell Line	embryonic stem cell
44	chr4:26861800-26864000	Active TSS	HUES6 Cell Line	embryonic stem cell
45	chr4:26861800-26864000	Active TSS	iPS-20b Cell Line	embryonic stem cell
46	chr4:26861800-26864000	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
47	chr4:26861800-26864000	Active TSS	Brain Anterior Caudate	brain
48	chr4:26861800-26864000	Active TSS	Fetal Lung	lung
49	chr4:26861800-26864000	Active TSS	A549	lung
50	chr4:26861800-26864200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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