Variant report

Variant	rs569763623
Chromosome Location	chr4:100870271-100870272
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:544)
CpG islands
(count:0)
Chromatin interactive
region (count:38)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:544 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	REST	chr4:100869811-100872485	H1-neurons	neurons:	n/a	n/a
2	CREB1	chr4:100870163-100870557	A549	lung:	n/a	n/a
3	FOXP2	chr4:100870164-100870528	SK-N-MC	brain:	n/a	n/a
4	IRF4	chr4:100870016-100870540	GM12878	blood:	n/a	n/a
5	CEBPD	chr4:100870242-100870479	HepG2	liver:	n/a	n/a
6	YY1	chr4:100870122-100870526	HCT-116	colon:	n/a	chr4:100870447-100870459
7	SP1	chr4:100870054-100870699	A549	lung:	n/a	n/a
8	NFATC1	chr4:100870045-100870792	GM12878	blood:	n/a	n/a
9	POLR2A	chr4:100870150-100871845	K562	blood:	n/a	n/a
10	ELF1	chr4:100870142-100870521	K562	blood:	n/a	n/a
11	SIN3AK20	chr4:100870007-100871000	MCF-7	breast:	n/a	n/a
12	CHD1	chr4:100869993-100872188	GM12878	blood:	n/a	n/a
13	RAD21	chr4:100870137-100870449	GM12878	blood:	n/a	n/a
14	MAZ	chr4:100870191-100870857	HepG2	liver:	n/a	n/a
15	RAD21	chr4:100870140-100870605	A549	lung:	n/a	n/a
16	CTCF	chr4:100870200-100870350	HFF-Myc	foreskin:	n/a	n/a
17	CTCF	chr4:100870240-100870390	HFF	foreskin:	n/a	n/a
18	POLR2A	chr4:100869904-100871586	GM12891	blood:	n/a	n/a
19	REST	chr4:100870098-100872122	HL-60	blood:	n/a	n/a
20	POLR2A	chr4:100870227-100870934	ProgFib	skin:	n/a	n/a
21	RAD21	chr4:100870008-100870599	HCT-116	colon:	n/a	n/a
22	RAD21	chr4:100870083-100870602	MCF-7	breast:	n/a	n/a
23	CTCF	chr4:100870181-100870453	GM13976	blood:	n/a	n/a
24	POLR2A	chr4:100870217-100872164	MCF-7	breast:	n/a	n/a
25	CEBPB	chr4:100870164-100870550	A549	lung:	n/a	chr4:100870347-100870358
26	CTCF	chr4:100870240-100870390	GM12867	blood:	n/a	n/a
27	SIN3A	chr4:100870080-100870930	GM12878	blood:	n/a	n/a
28	YY1	chr4:100870253-100871084	ECC-1	luminal epithelium:	n/a	chr4:100870447-100870459
29	POLR2A	chr4:100870127-100872617	Raji	blood:	n/a	n/a
30	HA-E2F1	chr4:100870132-100872374	MCF-7	breast:	n/a	chr4:100871550-100871559
31	POLR2A	chr4:100870146-100872114	PANC-1	pancreas:	n/a	n/a
32	CTCF	chr4:100870205-100870405	GM20000	blood:	n/a	n/a
33	TBP	chr4:100870033-100872440	K562	blood:	n/a	n/a
34	RUNX3	chr4:100870074-100871047	GM12878	blood:	n/a	n/a
35	SIN3AK20	chr4:100870030-100871059	SK-N-SH	brain:	n/a	n/a
36	TCF7L2	chr4:100870151-100872183	HCT-116	colon:	n/a	n/a
37	CTCF	chr4:100870240-100870390	AG04450	lung:	n/a	n/a
38	CTCF	chr4:100870240-100870390	HUVEC	blood vessel:	n/a	n/a
39	CEBPD	chr4:100870183-100870536	HepG2	liver:	n/a	n/a
40	ATF2	chr4:100869939-100870983	GM12878	blood:	n/a	n/a
41	CTCF	chr4:100870240-100870390	AG09309	skin:	n/a	n/a
42	FOXM1	chr4:100870013-100871005	GM12878	blood:	n/a	n/a
43	ZNF143	chr4:100870121-100872320	K562	blood:	n/a	chr4:100871616-100871634
44	USF2	chr4:100870168-100871029	H1-hESC	embryonic stem cell:	n/a	n/a
45	CTCF	chr4:100870260-100870410	GM12801	blood:	n/a	n/a
46	POLR2A	chr4:100870150-100872017	HUVEC	blood vessel:	n/a	n/a
47	GTF2F1	chr4:100870225-100870941	H1-hESC	embryonic stem cell:	n/a	n/a
48	BACH1	chr4:100870166-100871420	H1-hESC	embryonic stem cell:	n/a	n/a
49	NFATC1	chr4:100869943-100871057	GM12878	blood:	n/a	n/a
50	STAT5A	chr4:100869911-100870936	GM12878	blood:	n/a	chr4:100870710-100870721

No data

(count:38 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:100869660..100871292-chr4:129732222..129733752,2	K562	blood:
2	chr4:100777426..100780201-chr4:100868427..100870605,2	K562	blood:
3	chr4:100799869..100822436-chr4:100866015..100873106,54	K562	blood:
4	chr4:100869894..100871447-chr4:100910758..100913096,2	K562	blood:
5	chr17:11923049..11926004-chr4:100870025..100871677,2	MCF-7	breast:
6	chr4:100868231..100870491-chr4:101024426..101027309,2	K562	blood:
7	chr4:99850379..99851880-chr4:100869996..100872136,2	K562	blood:
8	chr4:100483953..100487087-chr4:100868908..100871675,3	MCF-7	breast:
9	chr4:100814600..100817376-chr4:100869817..100872742,4	MCF-7	breast:
10	chr4:100870088..100872119-chr4:103789876..103793001,3	K562	blood:
11	chr4:99917543..99919718-chr4:100869895..100871909,3	K562	blood:
12	chr19:899198..902071-chr4:100869985..100872075,2	K562	blood:
13	chr4:100869528..100871186-chr4:107235611..107237116,2	K562	blood:
14	chr4:100733036..100733650-chr4:100869824..100870747,2	K562	blood:
15	chr4:100868036..100870819-chr4:100983381..100985122,2	K562	blood:
16	chr4:100784573..100786604-chr4:100870218..100872169,2	K562	blood:
17	chr4:76597989..76600371-chr4:100870169..100871877,2	K562	blood:
18	chr4:100813266..100817175-chr4:100865527..100871657,11	MCF-7	breast:
19	chr4:100868745..100870761-chr4:100992723..100994637,2	K562	blood:
20	chr4:100732685..100733656-chr4:100869707..100870512,2	MCF-7	breast:
21	chr4:100729924..100732920-chr4:100868919..100870955,3	K562	blood:
22	chr4:100856020..100858032-chr4:100868560..100871073,2	K562	blood:
23	chr4:99915655..99920524-chr4:100869895..100872849,4	K562	blood:
24	chr4:87927389..87929061-chr4:100868201..100870359,2	K562	blood:
25	chr4:100737053..100739337-chr4:100869822..100871487,2	K562	blood:
26	chr4:100869383..100871934-chr4:102267599..102271042,3	K562	blood:
27	chr4:100737796..100739417-chr4:100869938..100872690,3	MCF-7	breast:
28	chr4:100810623..100827791-chr4:100865444..100874425,55	K562	blood:
29	chr4:100480938..100486909-chr4:100867873..100873651,15	K562	blood:
30	chr4:100733785..100736226-chr4:100868711..100870778,2	MCF-7	breast:
31	chr4:100458736..100461686-chr4:100868132..100870522,2	K562	blood:
32	chr4:100784573..100786137-chr4:100870218..100872755,2	K562	blood:
33	chr4:100869091..100871239-chr4:103351380..103353176,2	K562	blood:
34	chr4:99915636..99917371-chr4:100869943..100872361,4	K562	blood:
35	chr4:100850716..100855335-chr4:100865818..100872882,15	K562	blood:
36	chr4:100483327..100486538-chr4:100869980..100873651,6	K562	blood:
37	chr4:100840471..100849591-chr4:100866268..100873122,18	K562	blood:
38	chr4:100826139..100827985-chr4:100868304..100870406,2	K562	blood:

No data

Variant related genes	Relation type
DNAJB14	TF binding region
ENSG00000245322	TF binding region
ENSG00000138821	Chromatin interaction
ENSG00000241185	Chromatin interaction
ENSG00000238449	Chromatin interaction
ENSG00000138757	Chromatin interaction
ENSG00000164022	Chromatin interaction
ENSG00000070190	Chromatin interaction
ENSG00000172493	Chromatin interaction
ENSG00000145354	Chromatin interaction
ENSG00000151247	Chromatin interaction
ENSG00000248161	Chromatin interaction
ENSG00000164024	Chromatin interaction
ENSG00000265213	Chromatin interaction
ENSG00000164031	Chromatin interaction
ENSG00000254531	Chromatin interaction
ENSG00000250403	Chromatin interaction
ENSG00000138823	Chromatin interaction
ENSG00000109270	Chromatin interaction
ENSG00000198858	Chromatin interaction
ENSG00000077684	Chromatin interaction
ENSG00000138814	Chromatin interaction
ENSG00000145331	Chromatin interaction
ENSG00000109332	Chromatin interaction
ENSG00000065559	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	nsv879662	chr4:100849466-100876648	Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	51 gene(s)	inside rSNPs	diseases
2	nsv879663	chr4:100866460-100876648	Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	51 gene(s)	inside rSNPs	diseases
3	nsv967776	chr4:100869249-100872047	Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
4	nsv822668	chr4:100869757-100872113	Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:100868000-100871000	Transcr. at gene 5' and 3'	Dnd41	blood
2	chr4:100868200-100870600	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr4:100868400-100870400	Weak transcription	Lung	lung
4	chr4:100868400-100870400	Weak transcription	Small Intestine	intestine
5	chr4:100868400-100870400	Transcr. at gene 5' and 3'	NHEK	skin
6	chr4:100868400-100870800	Transcr. at gene 5' and 3'	iPS-18 Cell Line	embryonic stem cell
7	chr4:100868400-100870800	Transcr. at gene 5' and 3'	iPS-20b Cell Line	embryonic stem cell
8	chr4:100868600-100870400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr4:100868600-100871600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr4:100868600-100872200	Active TSS	Brain Inferior Temporal Lobe	brain
11	chr4:100869000-100872400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr4:100869200-100872400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr4:100869200-100872800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr4:100869400-100872200	Active TSS	Brain Hippocampus Middle	brain
15	chr4:100869600-100872000	Active TSS	Fetal Brain Female	brain
16	chr4:100869600-100872200	Active TSS	NHLF	lung
17	chr4:100869600-100872400	Active TSS	Breast Myoepithelial Primary Cells	Breast
18	chr4:100869600-100872400	Active TSS	NHDF-Ad	bronchial
19	chr4:100869800-100870400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
20	chr4:100869800-100870400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
21	chr4:100869800-100870400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr4:100869800-100870600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
23	chr4:100869800-100870800	Flanking Active TSS	Primary B cells from cord blood	blood
24	chr4:100869800-100872000	Active TSS	Primary T regulatory cells fromperipheralblood	blood
25	chr4:100869800-100872000	Active TSS	Skeletal Muscle Female	skeletal muscle
26	chr4:100869800-100872000	Active TSS	Thymus	Thymus
27	chr4:100869800-100872200	Active TSS	Fetal Intestine Small	intestine
28	chr4:100869800-100872400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr4:100869800-100872400	Active TSS	Fetal Intestine Large	intestine
30	chr4:100869800-100872600	Active TSS	H9 Cell Line	embryonic stem cell
31	chr4:100869800-100872600	Active TSS	Stomach Smooth Muscle	stomach
32	chr4:100869800-100872600	Active TSS	HSMMtube	muscle
33	chr4:100870000-100870400	Transcr. at gene 5' and 3'	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr4:100870000-100870400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr4:100870000-100870400	Enhancers	Gastric	stomach
36	chr4:100870000-100870800	Flanking Active TSS	Adipose Nuclei	Adipose
37	chr4:100870000-100870800	Flanking Active TSS	Liver	Liver
38	chr4:100870000-100871000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
39	chr4:100870000-100871000	Flanking Active TSS	Primary hematopoietic stem cells	blood
40	chr4:100870000-100871400	Transcr. at gene 5' and 3'	Primary T helper naive cells fromperipheralblood	blood
41	chr4:100870000-100871400	Active TSS	Right Atrium	heart
42	chr4:100870000-100872400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr4:100870000-100872400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr4:100870000-100872400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr4:100870000-100872400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr4:100870000-100872400	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
47	chr4:100870000-100872400	Active TSS	Esophagus	oesophagus
48	chr4:100870000-100872400	Active TSS	Pancreatic Islets	Pancreatic Islet
49	chr4:100870000-100872400	Active TSS	Ovary	ovary
50	chr4:100870000-100872400	Active TSS	Pancreas	Pancrea

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