Variant report

Variant	rs1078154
Chromosome Location	chr3:101293565-101293566
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:249)
CpG islands
(count:0)
Chromatin interactive
region (count:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:249 , 50 per page) page: 1 2 3 4 5

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr3:101292392-101293981	HUVEC	blood vessel:	n/a	n/a
2	POLR2A	chr3:101292316-101293989	Hela-S3	cervix:	n/a	n/a
3	POLR2A	chr3:101292546-101293661	A549	lung:	n/a	n/a
4	CHD1	chr3:101292462-101294186	H1-hESC	embryonic stem cell:	n/a	n/a
5	POLR2A	chr3:101292472-101293977	GM12891	blood:	n/a	n/a
6	YY1	chr3:101292419-101293675	SK-N-SH_RA	brain:	n/a	chr3:101293049-101293069
7	USF2	chr3:101293550-101294101	Hela-S3	cervix:	n/a	n/a
8	CTCF	chr3:101291996-101293654	SK-N-SH	brain:	n/a	chr3:101292581-101292597
9	MYC	chr3:101292327-101294134	A549	lung:	n/a	chr3:101294017-101294024
10	UBTF	chr3:101292321-101293988	K562	blood:	n/a	n/a
11	YY1	chr3:101292633-101293576	NT2-D1	testis:	n/a	chr3:101293049-101293069
12	POLR2A	chr3:101292266-101293947	PANC-1	pancreas:	n/a	n/a
13	POLR2A	chr3:101293372-101293950	U87	brain:	n/a	n/a
14	POLR2A	chr3:101292382-101294161	IMR90	lung:	n/a	n/a
15	POLR2A	chr3:101292210-101294038	A549	lung:	n/a	n/a
16	POLR2A	chr3:101292326-101294017	K562	blood:	n/a	n/a
17	UBTF	chr3:101292734-101294023	K562	blood:	n/a	n/a
18	TCF7L2	chr3:101292511-101293956	HCT-116	colon:	n/a	chr3:101293787-101293803 chr3:101293791-101293800
19	RELA	chr3:101292454-101293900	GM18951	blood:	n/a	n/a
20	POLR2A	chr3:101292215-101294005	HUVEC	blood vessel:	n/a	n/a
21	POLR2A	chr3:101292470-101294002	MCF-7	breast:	n/a	n/a
22	MXI1	chr3:101292384-101294168	GM12878	blood:	n/a	chr3:101293538-101293553
23	MYC	chr3:101292665-101293601	MCF-7	breast:	n/a	n/a
24	RUNX3	chr3:101292270-101293973	GM12878	blood:	n/a	n/a
25	POLR2A	chr3:101292177-101293909	HUVEC	blood vessel:	n/a	n/a
26	HEY1	chr3:101292194-101293587	HepG2	liver:	n/a	n/a
27	TAF1	chr3:101292701-101293783	Hela-S3	cervix:	n/a	n/a
28	TAF1	chr3:101292423-101294014	H1-hESC	embryonic stem cell:	n/a	n/a
29	MAX	chr3:101292357-101293957	HepG2	liver:	n/a	n/a
30	RFX5	chr3:101292463-101293613	HepG2	liver:	n/a	n/a
31	CREB1	chr3:101292556-101293687	A549	lung:	n/a	n/a
32	POLR2A	chr3:101292350-101294000	GM19099	blood:	n/a	n/a
33	MXI1	chr3:101293480-101294109	H1-hESC	embryonic stem cell:	n/a	chr3:101293538-101293553
34	POLR2A	chr3:101291764-101294002	HepG2	liver:	n/a	n/a
35	TAF1	chr3:101292387-101293684	GM12878	blood:	n/a	n/a
36	STAT5A	chr3:101293503-101293885	GM12878	blood:	n/a	n/a
37	POU2F2	chr3:101292352-101293609	GM12878	blood:	n/a	n/a
38	TAF1	chr3:101292589-101293660	HepG2	liver:	n/a	n/a
39	REST	chr3:101292166-101294104	H1-neurons	neurons:	n/a	n/a
40	SIN3A	chr3:101292433-101293903	GM12878	blood:	n/a	n/a
41	MAZ	chr3:101292565-101293688	Hela-S3	cervix:	n/a	n/a
42	POLR2A	chr3:101292546-101293853	ECC-1	luminal epithelium:	n/a	n/a
43	POLR2A	chr3:101292557-101293930	K562	blood:	n/a	n/a
44	POLR2A	chr3:101292612-101293633	A549	lung:	n/a	n/a
45	YY1	chr3:101292459-101293811	A549	lung:	n/a	chr3:101293049-101293069
46	TCF7L2	chr3:101293508-101293987	Hela-S3	cervix:	n/a	chr3:101293787-101293803 chr3:101293791-101293800
47	WRNIP1	chr3:101292195-101294066	GM12878	blood:	n/a	n/a
48	POLR2A	chr3:101292114-101293964	K562	blood:	n/a	n/a
49	CHD2	chr3:101292469-101293601	GM12878	blood:	n/a	n/a
50	E2F6	chr3:101292565-101293672	K562	blood:	n/a	chr3:101293386-101293401 chr3:101293385-101293396 chr3:101293382-101293399

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:101230224..101236227-chr3:101287209..101294479,8	K562	blood:
2	chr3:101293011..101294602-chr3:101404209..101407193,2	K562	blood:
3	chr3:101293029..101293955-chr5:43120888..43121551,2	Hela-S3	cervix:
4	chr3:101230669..101232356-chr3:101291492..101293831,2	K562	blood:
5	chr3:101289369..101294999-chr3:101391357..101396813,8	K562	blood:
6	chr2:85766179..85766731-chr3:101293054..101293595,2	Hela-S3	cervix:
7	chr3:101291696..101294315-chr3:101429379..101432021,3	K562	blood:
8	chr3:101291104..101295547-chr3:101393750..101397705,12	MCF-7	breast:
9	chr3:101230038..101233245-chr3:101289410..101293829,6	MCF-7	breast:
10	chr3:101291780..101294720-chr3:101394004..101396565,4	K562	blood:
11	chr3:101293308..101296113-chr3:101394030..101397396,3	MCF-7	breast:
12	chr11:319941..320900-chr3:101293102..101293622,2	Hela-S3	cervix:
13	chr3:101290641..101295184-chr3:101404268..101406806,5	MCF-7	breast:
14	chr3:101291201..101295304-chr3:101402286..101407928,8	MCF-7	breast:
15	chr3:101240327..101242182-chr3:101291977..101294150,2	MCF-7	breast:

No data

Variant related genes	Relation type
PCNP	TF binding region
ENSG00000256628	Chromatin interaction
ENSG00000138468	Chromatin interaction
ENSG00000244119	Chromatin interaction
ENSG00000175841	Chromatin interaction
ENSG00000168906	Chromatin interaction
ENSG00000114391	Chromatin interaction
ENSG00000066422	Chromatin interaction
ENSG00000172262	Chromatin interaction
ENSG00000142089	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs11556582	0.80[AMR][1000 genomes]
rs12629395	0.80[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs12631729	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13062695	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs13063994	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13065665	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13070567	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13078121	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13097625	0.90[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13097712	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16844078	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1976944	0.86[CHB][hapmap];0.88[JPT][hapmap];1.00[ASN][1000 genomes]
rs2303475	0.86[CHB][hapmap]
rs34408425	0.93[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34774691	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34930373	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35917542	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3762735	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56899303	0.82[AMR][1000 genomes]
rs6441619	1.00[CEU][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs6762367	1.00[CEU][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6792847	1.00[CEU][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs71315243	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs71315244	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71315245	0.85[EUR][1000 genomes]
rs71315246	0.87[EUR][1000 genomes]
rs7619122	0.93[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7630598	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs7632449	1.00[YRI][hapmap]
rs7637805	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:101291400-101294800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr3:101291600-101295000	Active TSS	K562	blood
3	chr3:101292000-101293600	Active TSS	Colonic Mucosa	Colon
4	chr3:101292000-101293800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr3:101292000-101293800	Active TSS	Rectal Mucosa Donor 29	rectum
6	chr3:101292000-101294400	Active TSS	iPS-20b Cell Line	embryonic stem cell
7	chr3:101292000-101294400	Active TSS	Fetal Muscle Leg	muscle
8	chr3:101292000-101294600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr3:101292000-101294800	Active TSS	H1 Cell Line	embryonic stem cell
10	chr3:101292000-101294800	Active TSS	Right Ventricle	heart
11	chr3:101292000-101295000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr3:101292000-101295200	Active TSS	Psoas Muscle	Psoas
13	chr3:101292200-101294000	Active TSS	Esophagus	oesophagus
14	chr3:101292200-101294000	Active TSS	Left Ventricle	heart
15	chr3:101292200-101294000	Bivalent/Poised TSS	HepG2	liver
16	chr3:101292200-101294200	Active TSS	H9 Cell Line	embryonic stem cell
17	chr3:101292200-101294200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr3:101292200-101294200	Active TSS	Fetal Muscle Trunk	muscle
19	chr3:101292200-101294400	Active TSS	iPS-18 Cell Line	embryonic stem cell
20	chr3:101292200-101294400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr3:101292200-101294400	Active TSS	Placenta Amnion	Placenta Amnion
22	chr3:101292200-101294600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr3:101292200-101295000	Active TSS	Right Atrium	heart
24	chr3:101292400-101293600	Active TSS	Primary T cells fromperipheralblood	blood
25	chr3:101292400-101293600	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
26	chr3:101292400-101293800	Active TSS	Fetal Adrenal Gland	Adrenal Gland
27	chr3:101292400-101294000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr3:101292400-101294000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr3:101292400-101294000	Active TSS	Cortex derived primary cultured neurospheres	brain
30	chr3:101292400-101294000	Active TSS	Brain Hippocampus Middle	brain
31	chr3:101292400-101294000	Active TSS	Duodenum Smooth Muscle	Duodenum
32	chr3:101292400-101294000	Active TSS	Fetal Brain Male	brain
33	chr3:101292400-101294000	Active TSS	Ovary	ovary
34	chr3:101292400-101294000	Active TSS	Pancreas	Pancrea
35	chr3:101292400-101294000	Active TSS	Rectal Mucosa Donor 31	rectum
36	chr3:101292400-101294000	Active TSS	Skeletal Muscle Male	skeletal muscle
37	chr3:101292400-101294000	Active TSS	HUVEC	blood vessel
38	chr3:101292400-101294200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
39	chr3:101292400-101294200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr3:101292400-101294200	Active TSS	HUES64 Cell Line	embryonic stem cell
41	chr3:101292400-101294200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr3:101292400-101294200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr3:101292400-101294200	Active TSS	Primary hematopoietic stem cells short term culture	blood
44	chr3:101292400-101294200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr3:101292400-101294200	Active TSS	Fetal Heart	heart
46	chr3:101292400-101294200	Active TSS	Fetal Intestine Large	intestine
47	chr3:101292400-101294200	Active TSS	Placenta	Placenta
48	chr3:101292400-101294200	Active TSS	Rectal Smooth Muscle	rectum
49	chr3:101292400-101294400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr3:101292400-101294400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell

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