Variant report

Variant	rs559185347
Chromosome Location	chr4:100870168-100870169
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:348)
CpG islands
(count:0)
Chromatin interactive
region (count:35)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:348 , 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	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	YY1	chr4:100870122-100870526	HCT-116	colon:	n/a	chr4:100870447-100870459
6	SP1	chr4:100870054-100870699	A549	lung:	n/a	n/a
7	NFATC1	chr4:100870045-100870792	GM12878	blood:	n/a	n/a
8	POLR2A	chr4:100870150-100871845	K562	blood:	n/a	n/a
9	ELF1	chr4:100870142-100870521	K562	blood:	n/a	n/a
10	SIN3AK20	chr4:100870007-100871000	MCF-7	breast:	n/a	n/a
11	CHD1	chr4:100869993-100872188	GM12878	blood:	n/a	n/a
12	RAD21	chr4:100870137-100870449	GM12878	blood:	n/a	n/a
13	RAD21	chr4:100870140-100870605	A549	lung:	n/a	n/a
14	POLR2A	chr4:100869904-100871586	GM12891	blood:	n/a	n/a
15	REST	chr4:100870098-100872122	HL-60	blood:	n/a	n/a
16	RAD21	chr4:100870008-100870599	HCT-116	colon:	n/a	n/a
17	RAD21	chr4:100870083-100870602	MCF-7	breast:	n/a	n/a
18	CEBPB	chr4:100870164-100870550	A549	lung:	n/a	chr4:100870347-100870358
19	SIN3A	chr4:100870080-100870930	GM12878	blood:	n/a	n/a
20	POLR2A	chr4:100870127-100872617	Raji	blood:	n/a	n/a
21	HA-E2F1	chr4:100870132-100872374	MCF-7	breast:	n/a	chr4:100871550-100871559
22	POLR2A	chr4:100870146-100872114	PANC-1	pancreas:	n/a	n/a
23	TBP	chr4:100870033-100872440	K562	blood:	n/a	n/a
24	RUNX3	chr4:100870074-100871047	GM12878	blood:	n/a	n/a
25	SIN3AK20	chr4:100870030-100871059	SK-N-SH	brain:	n/a	n/a
26	TCF7L2	chr4:100870151-100872183	HCT-116	colon:	n/a	n/a
27	ATF2	chr4:100869939-100870983	GM12878	blood:	n/a	n/a
28	FOXM1	chr4:100870013-100871005	GM12878	blood:	n/a	n/a
29	ZNF143	chr4:100870121-100872320	K562	blood:	n/a	chr4:100871616-100871634
30	USF2	chr4:100870168-100871029	H1-hESC	embryonic stem cell:	n/a	n/a
31	POLR2A	chr4:100870150-100872017	HUVEC	blood vessel:	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	ATF3	chr4:100870062-100870574	K562	blood:	n/a	n/a
36	CHD2	chr4:100870041-100872130	K562	blood:	n/a	n/a
37	EP300	chr4:100870156-100870587	HepG2	liver:	n/a	n/a
38	STAT5A	chr4:100870137-100870663	GM12878	blood:	n/a	n/a
39	E2F4	chr4:100870128-100872613	MCF10A-Er-Src	breast:	n/a	chr4:100871435-100871446 chr4:100870611-100870619 chr4:100870840-100870848 chr4:100871550-100871559
40	CEBPB	chr4:100869948-100870937	HCT-116	colon:	n/a	chr4:100870347-100870358
41	CTCF	chr4:100870142-100870622	T-47D	breast:	n/a	n/a
42	TCF12	chr4:100870112-100870535	A549	lung:	n/a	n/a
43	MAX	chr4:100870079-100872227	ECC-1	luminal epithelium:	n/a	chr4:100871615-100871624
44	CTCF	chr4:100870059-100870428	A549	lung:	n/a	n/a
45	TEAD4	chr4:100870024-100870455	HepG2	liver:	n/a	n/a
46	RCOR1	chr4:100870147-100872043	Hela-S3	cervix:	n/a	n/a
47	MAX	chr4:100870061-100870921	GM12878	blood:	n/a	n/a
48	MYC	chr4:100870084-100872648	K562	blood:	n/a	chr4:100871615-100871624
49	USF1	chr4:100870112-100870982	ECC-1	luminal epithelium:	n/a	n/a
50	POLR2A	chr4:100869954-100872535	K562	blood:	n/a	n/a

No data

(count:35 , 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	chr4:100813266..100817175-chr4:100865527..100871657,11	MCF-7	breast:
17	chr4:100868745..100870761-chr4:100992723..100994637,2	K562	blood:
18	chr4:100732685..100733656-chr4:100869707..100870512,2	MCF-7	breast:
19	chr4:100729924..100732920-chr4:100868919..100870955,3	K562	blood:
20	chr4:100856020..100858032-chr4:100868560..100871073,2	K562	blood:
21	chr4:99915655..99920524-chr4:100869895..100872849,4	K562	blood:
22	chr4:87927389..87929061-chr4:100868201..100870359,2	K562	blood:
23	chr4:100737053..100739337-chr4:100869822..100871487,2	K562	blood:
24	chr4:100869383..100871934-chr4:102267599..102271042,3	K562	blood:
25	chr4:100737796..100739417-chr4:100869938..100872690,3	MCF-7	breast:
26	chr4:100810623..100827791-chr4:100865444..100874425,55	K562	blood:
27	chr4:100480938..100486909-chr4:100867873..100873651,15	K562	blood:
28	chr4:100733785..100736226-chr4:100868711..100870778,2	MCF-7	breast:
29	chr4:100458736..100461686-chr4:100868132..100870522,2	K562	blood:
30	chr4:100869091..100871239-chr4:103351380..103353176,2	K562	blood:
31	chr4:99915636..99917371-chr4:100869943..100872361,4	K562	blood:
32	chr4:100850716..100855335-chr4:100865818..100872882,15	K562	blood:
33	chr4:100483327..100486538-chr4:100869980..100873651,6	K562	blood:
34	chr4:100840471..100849591-chr4:100866268..100873122,18	K562	blood:
35	chr4:100826139..100827985-chr4:100868304..100870406,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000245322	TF binding region
DNAJB14	TF binding region
ENSG00000109332	Chromatin interaction
ENSG00000138823	Chromatin interaction
ENSG00000138821	Chromatin interaction
ENSG00000265213	Chromatin interaction
ENSG00000248161	Chromatin interaction
ENSG00000241185	Chromatin interaction
ENSG00000238449	Chromatin interaction
ENSG00000070190	Chromatin interaction
ENSG00000198858	Chromatin interaction
ENSG00000164022	Chromatin interaction
ENSG00000254531	Chromatin interaction
ENSG00000164024	Chromatin interaction
ENSG00000164031	Chromatin interaction
ENSG00000109270	Chromatin interaction
ENSG00000138814	Chromatin interaction
ENSG00000250403	Chromatin interaction
ENSG00000077684	Chromatin interaction
ENSG00000172493	Chromatin interaction
ENSG00000065559	Chromatin interaction
ENSG00000145354	Chromatin interaction
ENSG00000145331	Chromatin interaction
ENSG00000151247	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	chr4:100868200-100870200	Transcr. at gene 5' and 3'	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr4:100868200-100870200	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr4:100868200-100870200	Transcr. at gene 5' and 3'	A549	lung
5	chr4:100868200-100870600	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr4:100868400-100870200	Transcr. at gene 5' and 3'	HUES64 Cell Line	embryonic stem cell
7	chr4:100868400-100870200	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood
8	chr4:100868400-100870200	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr4:100868400-100870200	Transcr. at gene 5' and 3'	HUVEC	blood vessel
10	chr4:100868400-100870200	Transcr. at gene 5' and 3'	K562	blood
11	chr4:100868400-100870400	Weak transcription	Lung	lung
12	chr4:100868400-100870400	Weak transcription	Small Intestine	intestine
13	chr4:100868400-100870400	Transcr. at gene 5' and 3'	NHEK	skin
14	chr4:100868400-100870800	Transcr. at gene 5' and 3'	iPS-18 Cell Line	embryonic stem cell
15	chr4:100868400-100870800	Transcr. at gene 5' and 3'	iPS-20b Cell Line	embryonic stem cell
16	chr4:100868600-100870200	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr4:100868600-100870200	Transcr. at gene 5' and 3'	HUES48 Cell Line	embryonic stem cell
18	chr4:100868600-100870200	Transcr. at gene 5' and 3'	HUES6 Cell Line	embryonic stem cell
19	chr4:100868600-100870200	Transcr. at gene 5' and 3'	Hela-S3	cervix
20	chr4:100868600-100870200	Transcr. at gene 5' and 3'	HMEC	breast
21	chr4:100868600-100870400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr4:100868600-100871600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr4:100868600-100872200	Active TSS	Brain Inferior Temporal Lobe	brain
24	chr4:100869000-100872400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr4:100869200-100872400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr4:100869200-100872800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr4:100869400-100870200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
28	chr4:100869400-100870200	Transcr. at gene 5' and 3'	NH-A	brain
29	chr4:100869400-100872200	Active TSS	Brain Hippocampus Middle	brain
30	chr4:100869600-100870200	Transcr. at gene 5' and 3'	H1 Cell Line	embryonic stem cell
31	chr4:100869600-100870200	Transcr. at gene 5' and 3'	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr4:100869600-100870200	Transcr. at gene 5' and 3'	ES-UCSF4 Cell Line	embryonic stem cell
33	chr4:100869600-100870200	Transcr. at gene 5' and 3'	Fetal Thymus	thymus
34	chr4:100869600-100872000	Active TSS	Fetal Brain Female	brain
35	chr4:100869600-100872200	Active TSS	NHLF	lung
36	chr4:100869600-100872400	Active TSS	Breast Myoepithelial Primary Cells	Breast
37	chr4:100869600-100872400	Active TSS	NHDF-Ad	bronchial
38	chr4:100869800-100870200	Transcr. at gene 5' and 3'	ES-I3 Cell Line	embryonic stem cell
39	chr4:100869800-100870200	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
40	chr4:100869800-100870200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr4:100869800-100870200	Transcr. at gene 5' and 3'	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr4:100869800-100870200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
43	chr4:100869800-100870200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
44	chr4:100869800-100870200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
45	chr4:100869800-100870200	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
46	chr4:100869800-100870200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr4:100869800-100870200	Flanking Active TSS	Brain Germinal Matrix	brain
48	chr4:100869800-100870200	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
49	chr4:100869800-100870200	Flanking Active TSS	Fetal Brain Male	brain
50	chr4:100869800-100870200	Transcr. at gene 5' and 3'	Fetal Lung	lung

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