Variant report

Variant	rs377735103
Chromosome Location	chr4:100870594-100870595
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:328)
CpG islands
(count:0)
Chromatin interactive
region (count:38)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:328 , 50 per page) page: 1 2 3 4 5 6 7

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	POLR2A	chr4:100870314-100872085	GM10847	blood:	n/a	n/a
3	SP1	chr4:100870054-100870699	A549	lung:	n/a	n/a
4	NFATC1	chr4:100870045-100870792	GM12878	blood:	n/a	n/a
5	POLR2A	chr4:100870150-100871845	K562	blood:	n/a	n/a
6	SIN3AK20	chr4:100870007-100871000	MCF-7	breast:	n/a	n/a
7	CHD1	chr4:100869993-100872188	GM12878	blood:	n/a	n/a
8	MAZ	chr4:100870191-100870857	HepG2	liver:	n/a	n/a
9	RAD21	chr4:100870140-100870605	A549	lung:	n/a	n/a
10	POLR2A	chr4:100869904-100871586	GM12891	blood:	n/a	n/a
11	REST	chr4:100870098-100872122	HL-60	blood:	n/a	n/a
12	POLR2A	chr4:100870227-100870934	ProgFib	skin:	n/a	n/a
13	RAD21	chr4:100870008-100870599	HCT-116	colon:	n/a	n/a
14	RAD21	chr4:100870083-100870602	MCF-7	breast:	n/a	n/a
15	POLR2A	chr4:100870217-100872164	MCF-7	breast:	n/a	n/a
16	SIN3A	chr4:100870080-100870930	GM12878	blood:	n/a	n/a
17	YY1	chr4:100870253-100871084	ECC-1	luminal epithelium:	n/a	chr4:100870447-100870459
18	POLR2A	chr4:100870127-100872617	Raji	blood:	n/a	n/a
19	HA-E2F1	chr4:100870132-100872374	MCF-7	breast:	n/a	chr4:100871550-100871559
20	POLR2A	chr4:100870146-100872114	PANC-1	pancreas:	n/a	n/a
21	TBP	chr4:100870033-100872440	K562	blood:	n/a	n/a
22	RUNX3	chr4:100870074-100871047	GM12878	blood:	n/a	n/a
23	SIN3AK20	chr4:100870030-100871059	SK-N-SH	brain:	n/a	n/a
24	TCF7L2	chr4:100870151-100872183	HCT-116	colon:	n/a	n/a
25	ATF2	chr4:100869939-100870983	GM12878	blood:	n/a	n/a
26	FOXM1	chr4:100870013-100871005	GM12878	blood:	n/a	n/a
27	CTCF	chr4:100870460-100870610	HFF-Myc	foreskin:	n/a	n/a
28	ZNF143	chr4:100870121-100872320	K562	blood:	n/a	chr4:100871616-100871634
29	USF2	chr4:100870168-100871029	H1-hESC	embryonic stem cell:	n/a	n/a
30	POLR2A	chr4:100870150-100872017	HUVEC	blood vessel:	n/a	n/a
31	GTF2F1	chr4:100870225-100870941	H1-hESC	embryonic stem cell:	n/a	n/a
32	BACH1	chr4:100870166-100871420	H1-hESC	embryonic stem cell:	n/a	n/a
33	NFATC1	chr4:100869943-100871057	GM12878	blood:	n/a	n/a
34	STAT5A	chr4:100869911-100870936	GM12878	blood:	n/a	chr4:100870710-100870721
35	E2F4	chr4:100870192-100872121	K562	blood:	n/a	chr4:100871435-100871446 chr4:100870611-100870619 chr4:100870840-100870848 chr4:100871550-100871559
36	CHD2	chr4:100870041-100872130	K562	blood:	n/a	n/a
37	STAT5A	chr4:100870137-100870663	GM12878	blood:	n/a	n/a
38	E2F4	chr4:100870128-100872613	MCF10A-Er-Src	breast:	n/a	chr4:100871435-100871446 chr4:100870611-100870619 chr4:100870840-100870848 chr4:100871550-100871559
39	CEBPB	chr4:100869948-100870937	HCT-116	colon:	n/a	chr4:100870347-100870358
40	TAF1	chr4:100870578-100871949	K562	blood:	n/a	n/a
41	CTCF	chr4:100870142-100870622	T-47D	breast:	n/a	n/a
42	MAX	chr4:100870079-100872227	ECC-1	luminal epithelium:	n/a	chr4:100871615-100871624
43	RCOR1	chr4:100870147-100872043	Hela-S3	cervix:	n/a	n/a
44	MAX	chr4:100870061-100870921	GM12878	blood:	n/a	n/a
45	MYC	chr4:100870084-100872648	K562	blood:	n/a	chr4:100871615-100871624
46	USF1	chr4:100870112-100870982	ECC-1	luminal epithelium:	n/a	n/a
47	POLR2A	chr4:100869954-100872535	K562	blood:	n/a	n/a
48	POLR2A	chr4:100870252-100872126	HEK293	kidney:	n/a	n/a
49	PML	chr4:100870056-100870978	K562	blood:	n/a	n/a
50	POLR2A	chr4:100870015-100872234	H1-neurons	neurons:	n/a	n/a

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	chr4:99850379..99851880-chr4:100869996..100872136,2	K562	blood:
7	chr4:100483953..100487087-chr4:100868908..100871675,3	MCF-7	breast:
8	chr4:99848589..99851336-chr4:100870396..100872880,2	MCF-7	breast:
9	chr4:100814600..100817376-chr4:100869817..100872742,4	MCF-7	breast:
10	chr4:99848722..99851880-chr4:100870275..100872713,4	K562	blood:
11	chr4:100870088..100872119-chr4:103789876..103793001,3	K562	blood:
12	chr4:99917543..99919718-chr4:100869895..100871909,3	K562	blood:
13	chr19:899198..902071-chr4:100869985..100872075,2	K562	blood:
14	chr4:100869528..100871186-chr4:107235611..107237116,2	K562	blood:
15	chr4:100733036..100733650-chr4:100869824..100870747,2	K562	blood:
16	chr4:100868036..100870819-chr4:100983381..100985122,2	K562	blood:
17	chr4:100784573..100786604-chr4:100870218..100872169,2	K562	blood:
18	chr4:76597989..76600371-chr4:100870169..100871877,2	K562	blood:
19	chr4:100813266..100817175-chr4:100865527..100871657,11	MCF-7	breast:
20	chr4:100868745..100870761-chr4:100992723..100994637,2	K562	blood:
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	chr4:100870517..100873586-chr4:103747603..103750269,4	K562	blood:
25	chr4:100737053..100739337-chr4:100869822..100871487,2	K562	blood:
26	chr12:50135277..50135820-chr4:100870509..100871438,2	Hela-S3	cervix:
27	chr4:100869383..100871934-chr4:102267599..102271042,3	K562	blood:
28	chr4:100737796..100739417-chr4:100869938..100872690,3	MCF-7	breast:
29	chr4:100810623..100827791-chr4:100865444..100874425,55	K562	blood:
30	chr4:100480938..100486909-chr4:100867873..100873651,15	K562	blood:
31	chr4:100733785..100736226-chr4:100868711..100870778,2	MCF-7	breast:
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	chr4:100483475..100486481-chr4:100870338..100872441,3	MCF-7	breast:
37	chr4:100483327..100486538-chr4:100869980..100873651,6	K562	blood:
38	chr4:100840471..100849591-chr4:100866268..100873122,18	K562	blood:

No data

Variant related genes	Relation type
ENSG00000245322	TF binding region
DNAJB14	TF binding region
ENSG00000151247	Chromatin interaction
ENSG00000109270	Chromatin interaction
ENSG00000138757	Chromatin interaction
ENSG00000250403	Chromatin interaction
ENSG00000254531	Chromatin interaction
ENSG00000241185	Chromatin interaction
ENSG00000139644	Chromatin interaction
ENSG00000065559	Chromatin interaction
ENSG00000070190	Chromatin interaction
ENSG00000164022	Chromatin interaction
ENSG00000238449	Chromatin interaction
ENSG00000198858	Chromatin interaction
ENSG00000164024	Chromatin interaction
ENSG00000248161	Chromatin interaction
ENSG00000077684	Chromatin interaction
ENSG00000263923	Chromatin interaction
ENSG00000138823	Chromatin interaction
ENSG00000109332	Chromatin interaction
ENSG00000246560	Chromatin interaction
ENSG00000138814	Chromatin interaction
ENSG00000164031	Chromatin interaction
ENSG00000145354	Chromatin interaction
ENSG00000145331	Chromatin interaction
ENSG00000138821	Chromatin interaction
ENSG00000265213	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	chr4:100868400-100870800	Transcr. at gene 5' and 3'	iPS-18 Cell Line	embryonic stem cell
4	chr4:100868400-100870800	Transcr. at gene 5' and 3'	iPS-20b Cell Line	embryonic stem cell
5	chr4:100868600-100871600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr4:100868600-100872200	Active TSS	Brain Inferior Temporal Lobe	brain
7	chr4:100869000-100872400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr4:100869200-100872400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr4:100869200-100872800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr4:100869400-100872200	Active TSS	Brain Hippocampus Middle	brain
11	chr4:100869600-100872000	Active TSS	Fetal Brain Female	brain
12	chr4:100869600-100872200	Active TSS	NHLF	lung
13	chr4:100869600-100872400	Active TSS	Breast Myoepithelial Primary Cells	Breast
14	chr4:100869600-100872400	Active TSS	NHDF-Ad	bronchial
15	chr4:100869800-100870600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
16	chr4:100869800-100870800	Flanking Active TSS	Primary B cells from cord blood	blood
17	chr4:100869800-100872000	Active TSS	Primary T regulatory cells fromperipheralblood	blood
18	chr4:100869800-100872000	Active TSS	Skeletal Muscle Female	skeletal muscle
19	chr4:100869800-100872000	Active TSS	Thymus	Thymus
20	chr4:100869800-100872200	Active TSS	Fetal Intestine Small	intestine
21	chr4:100869800-100872400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr4:100869800-100872400	Active TSS	Fetal Intestine Large	intestine
23	chr4:100869800-100872600	Active TSS	H9 Cell Line	embryonic stem cell
24	chr4:100869800-100872600	Active TSS	Stomach Smooth Muscle	stomach
25	chr4:100869800-100872600	Active TSS	HSMMtube	muscle
26	chr4:100870000-100870800	Flanking Active TSS	Adipose Nuclei	Adipose
27	chr4:100870000-100870800	Flanking Active TSS	Liver	Liver
28	chr4:100870000-100871000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
29	chr4:100870000-100871000	Flanking Active TSS	Primary hematopoietic stem cells	blood
30	chr4:100870000-100871400	Transcr. at gene 5' and 3'	Primary T helper naive cells fromperipheralblood	blood
31	chr4:100870000-100871400	Active TSS	Right Atrium	heart
32	chr4:100870000-100872400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr4:100870000-100872400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr4:100870000-100872400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr4:100870000-100872400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr4:100870000-100872400	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
37	chr4:100870000-100872400	Active TSS	Esophagus	oesophagus
38	chr4:100870000-100872400	Active TSS	Pancreatic Islets	Pancreatic Islet
39	chr4:100870000-100872400	Active TSS	Ovary	ovary
40	chr4:100870000-100872400	Active TSS	Pancreas	Pancrea
41	chr4:100870000-100872600	Active TSS	Aorta	Aorta
42	chr4:100870000-100872600	Active TSS	Fetal Muscle Trunk	muscle
43	chr4:100870000-100872600	Active TSS	Left Ventricle	heart
44	chr4:100870000-100872600	Active TSS	Right Ventricle	heart
45	chr4:100870200-100870600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr4:100870200-100870800	Active TSS	Brain Germinal Matrix	brain
47	chr4:100870200-100871800	Active TSS	Placenta Amnion	Placenta Amnion
48	chr4:100870200-100872000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
49	chr4:100870200-100872000	Active TSS	Primary B cells from peripheral blood	blood
50	chr4:100870200-100872000	Active TSS	Primary T cells from cord blood	blood

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