Variant report

Variant	rs568752983
Chromosome Location	chr4:26861968-26861969
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	NFYB	chr4:26861962-26862769	K562	blood:	n/a	n/a
2	POLR2A	chr4:26861812-26862658	Hela-S3	cervix:	n/a	n/a
3	POLR2A	chr4:26861478-26862812	HCT-116	colon:	n/a	n/a
4	HEY1	chr4:26861767-26862571	K562	blood:	n/a	chr4:26862282-26862297
5	RAD21	chr4:26861940-26862240	GM12878	blood:	n/a	n/a
6	CEBPD	chr4:26861939-26862311	HepG2	liver:	n/a	n/a
7	TBP	chr4:26861775-26862364	GM12878	blood:	n/a	n/a
8	POLR2A	chr4:26861961-26862560	A549	lung:	n/a	n/a
9	CTCF	chr4:26861960-26862110	WI-38	lung:	n/a	n/a
10	MYC	chr4:26861744-26863421	K562	blood:	n/a	n/a
11	ZNF143	chr4:26861819-26863610	GM12878	blood:	n/a	n/a
12	POLR2A	chr4:26861917-26863292	GM12878	blood:	n/a	n/a
13	POLR2A	chr4:26861623-26862751	GM12891	blood:	n/a	n/a
14	TAF1	chr4:26861961-26862321	GM12891	blood:	n/a	n/a
15	EP300	chr4:26861855-26863567	SK-N-SH	brain:	n/a	n/a
16	NR2F2	chr4:26861749-26862442	K562	blood:	n/a	n/a
17	EP300	chr4:26861929-26862124	GM12878	blood:	n/a	n/a
18	MXI1	chr4:26861480-26863616	HepG2	liver:	n/a	n/a
19	CTCF	chr4:26861907-26862529	H1-hESC	embryonic stem cell:	n/a	n/a
20	MYBL2	chr4:26861723-26862395	HepG2	liver:	n/a	n/a
21	STAT3	chr4:26861888-26862023	MCF10A-Er-Src	breast:	n/a	n/a
22	MAX	chr4:26861760-26863605	GM12878	blood:	n/a	n/a
23	E2F4	chr4:26861964-26862427	GM12878	blood:	n/a	chr4:26862287-26862296 chr4:26862263-26862272 chr4:26862312-26862321 chr4:26862284-26862294
24	POLR2A	chr4:26861881-26863450	GM12892	blood:	n/a	n/a
25	POLR2A	chr4:26861723-26862684	HCT-116	colon:	n/a	n/a
26	POLR2A	chr4:26861729-26862627	HepG2	liver:	n/a	n/a
27	NFIC	chr4:26861890-26862357	HepG2	liver:	n/a	n/a
28	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
29	ZBTB7A	chr4:26861824-26862592	K562	blood:	n/a	n/a
30	EP300	chr4:26861890-26862708	K562	blood:	n/a	n/a
31	ATF2	chr4:26861869-26862290	GM12878	blood:	n/a	n/a
32	CBX3	chr4:26861687-26862574	K562	blood:	n/a	n/a
33	TBP	chr4:26861551-26863177	K562	blood:	n/a	n/a
34	TAF1	chr4:26861939-26863342	H1-neurons	neurons:	n/a	n/a
35	REST	chr4:26861911-26862526	SK-N-SH	brain:	n/a	chr4:26862293-26862306 chr4:26862476-26862494
36	GATA3	chr4:26861788-26862397	T-47D	breast:	n/a	n/a
37	MXI1	chr4:26861835-26862511	Hela-S3	cervix:	n/a	n/a
38	ZKSCAN1	chr4:26861917-26862395	Hela-S3	cervix:	n/a	n/a
39	E2F6	chr4:26861963-26863281	K562	blood:	n/a	chr4:26862287-26862296 chr4:26862451-26862458 chr4:26862263-26862272 chr4:26862347-26862358 chr4:26862312-26862321 chr4:26862284-26862294
40	RFX5	chr4:26861835-26862207	GM12878	blood:	n/a	n/a
41	SIN3AK20	chr4:26861871-26862229	PFSK-1	brain:	n/a	n/a
42	POLR2A	chr4:26861851-26862624	GM12891	blood:	n/a	n/a
43	POLR2A	chr4:26861835-26863270	MCF-7	breast:	n/a	n/a
44	CHD2	chr4:26861646-26862608	GM12878	blood:	n/a	n/a
45	GTF2F1	chr4:26861953-26862334	K562	blood:	n/a	n/a
46	USF2	chr4:26861959-26862231	Hela-S3	cervix:	n/a	n/a
47	RCOR1	chr4:26861672-26862577	HepG2	liver:	n/a	n/a
48	MEF2A	chr4:26861817-26862586	GM12878	blood:	n/a	n/a
49	CTBP2	chr4:26861766-26863483	H1-hESC	embryonic stem cell:	n/a	n/a
50	JUND	chr4:26861713-26862227	HepG2	liver:	n/a	n/a

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

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

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	chr4:26859400-26862200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr4:26859600-26862000	Flanking Active TSS	Fetal Thymus	thymus
4	chr4:26859800-26862000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr4:26859800-26862000	Flanking Active TSS	Primary T cells from cord blood	blood
6	chr4:26859800-26862000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
7	chr4:26859800-26862000	Flanking Active TSS	Dnd41	blood
8	chr4:26859800-26862000	Flanking Active TSS	Hela-S3	cervix
9	chr4:26860200-26864600	Active TSS	Fetal Muscle Trunk	muscle
10	chr4:26860600-26862000	Flanking Active TSS	GM12878-XiMat	blood
11	chr4:26860600-26862000	Flanking Active TSS	HMEC	breast
12	chr4:26860600-26862000	Flanking Active TSS	K562	blood
13	chr4:26861000-26862000	Flanking Active TSS	Primary B cells from cord blood	blood
14	chr4:26861000-26862200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr4:26861200-26862000	Flanking Active TSS	Primary hematopoietic stem cells	blood
16	chr4:26861200-26862000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr4:26861200-26862000	Flanking Active TSS	Liver	Liver
18	chr4:26861200-26862000	Flanking Active TSS	Fetal Muscle Leg	muscle
19	chr4:26861200-26862200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
20	chr4:26861200-26864000	Active TSS	Fetal Kidney	kidney
21	chr4:26861400-26862000	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr4:26861400-26862000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr4:26861400-26862000	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
24	chr4:26861400-26862000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
25	chr4:26861400-26862000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
26	chr4:26861400-26862000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
27	chr4:26861400-26862000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
28	chr4:26861400-26862000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
29	chr4:26861400-26862000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr4:26861400-26862000	Flanking Active TSS	Adipose Nuclei	Adipose
31	chr4:26861400-26862000	Flanking Active TSS	Fetal Intestine Small	intestine
32	chr4:26861400-26862000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
33	chr4:26861400-26862000	Flanking Active TSS	HSMMtube	muscle
34	chr4:26861400-26862000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
35	chr4:26861400-26862000	Flanking Active TSS	NH-A	brain
36	chr4:26861400-26862200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
37	chr4:26861400-26862200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
38	chr4:26861400-26862200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
39	chr4:26861400-26862200	Active TSS	Fetal Brain Male	brain
40	chr4:26861400-26862200	Flanking Active TSS	HUVEC	blood vessel
41	chr4:26861400-26862800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr4:26861400-26864200	Active TSS	H1 Cell Line	embryonic stem cell
43	chr4:26861400-26864400	Active TSS	Rectal Smooth Muscle	rectum
44	chr4:26861600-26862000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
45	chr4:26861600-26862000	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
46	chr4:26861600-26862000	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
47	chr4:26861600-26862000	Flanking Active TSS	Primary B cells from peripheral blood	blood
48	chr4:26861600-26862000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
49	chr4:26861600-26862000	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
50	chr4:26861600-26862000	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood

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