Variant report

Variant	rs3773719
Chromosome Location	chr3:156272486-156272487
allele	A/C
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	ELF1	chr3:156272477-156273302	K562	blood:	n/a	chr3:156272991-156273000 chr3:156273092-156273103 chr3:156272992-156273004 chr3:156273092-156273103
2	POLR2A	chr3:156271592-156273408	HUVEC	blood vessel:	n/a	n/a
3	MYC	chr3:156271575-156273303	K562	blood:	n/a	chr3:156271916-156271923 chr3:156273112-156273121 chr3:156273110-156273123 chr3:156273110-156273123 chr3:156273110-156273118 chr3:156273110-156273123 chr3:156273112-156273121 chr3:156273111-156273122 chr3:156273271-156273280 chr3:156271915-156271924
4	MAX	chr3:156272486-156273361	H1-hESC	embryonic stem cell:	n/a	chr3:156273112-156273121 chr3:156273110-156273123 chr3:156273110-156273123 chr3:156273110-156273118 chr3:156273110-156273123 chr3:156273112-156273121 chr3:156273111-156273122 chr3:156273271-156273280
5	POLR2A	chr3:156272408-156273401	GM15510	blood:	n/a	n/a
6	MAX	chr3:156272305-156273401	MCF-7	breast:	n/a	chr3:156273112-156273121 chr3:156273110-156273123 chr3:156273110-156273123 chr3:156273110-156273118 chr3:156273110-156273123 chr3:156273112-156273121 chr3:156273111-156273122 chr3:156273271-156273280
7	POLR2A	chr3:156272419-156273146	K562	blood:	n/a	n/a
8	MYC	chr3:156271711-156273321	K562	blood:	n/a	chr3:156271916-156271923 chr3:156273112-156273121 chr3:156273110-156273123 chr3:156273110-156273123 chr3:156273110-156273118 chr3:156273110-156273123 chr3:156273112-156273121 chr3:156273111-156273122 chr3:156273271-156273280 chr3:156271915-156271924
9	POLR2A	chr3:156272418-156273106	Hela-S3	cervix:	n/a	n/a
10	TAF1	chr3:156272477-156273540	H1-hESC	embryonic stem cell:	n/a	n/a
11	BHLHE40	chr3:156271773-156273471	GM12878	blood:	n/a	chr3:156272945-156272961
12	CEBPB	chr3:156271516-156273211	Hela-S3	cervix:	n/a	chr3:156271682-156271693 chr3:156271681-156271694 chr3:156272271-156272282 chr3:156272271-156272284 chr3:156271681-156271692 chr3:156272271-156272282 chr3:156271681-156271694 chr3:156272271-156272284
13	STAT5A	chr3:156272357-156273387	GM12878	blood:	n/a	n/a
14	POLR2A	chr3:156272431-156273306	K562	blood:	n/a	n/a
15	EP300	chr3:156272470-156273525	ECC-1	luminal epithelium:	n/a	chr3:156273093-156273100 chr3:156272986-156273002 chr3:156273323-156273337 chr3:156272953-156272962
16	MAX	chr3:156271698-156273375	Hela-S3	cervix:	n/a	chr3:156271916-156271923 chr3:156273112-156273121 chr3:156273110-156273123 chr3:156273110-156273123 chr3:156273110-156273118 chr3:156273110-156273123 chr3:156273112-156273121 chr3:156273111-156273122 chr3:156273271-156273280 chr3:156271915-156271924
17	CEBPB	chr3:156271505-156272584	K562	blood:	n/a	chr3:156271682-156271693 chr3:156271681-156271694 chr3:156272271-156272282 chr3:156272271-156272284 chr3:156271681-156271692 chr3:156272271-156272282 chr3:156271681-156271694 chr3:156272271-156272284
18	SREBP1	chr3:156271429-156274240	GM12878	blood:	n/a	n/a
19	POLR2A	chr3:156272437-156273093	GM12891	blood:	n/a	n/a
20	MAX	chr3:156272373-156273348	SK-N-SH	brain:	n/a	chr3:156273112-156273121 chr3:156273110-156273123 chr3:156273110-156273123 chr3:156273110-156273118 chr3:156273110-156273123 chr3:156273112-156273121 chr3:156273111-156273122 chr3:156273271-156273280
21	POLR2A	chr3:156272295-156273550	HUVEC	blood vessel:	n/a	n/a
22	TAF1	chr3:156272434-156273634	ECC-1	luminal epithelium:	n/a	n/a
23	MXI1	chr3:156271033-156273803	IMR90	lung:	n/a	chr3:156273113-156273122
24	MYC	chr3:156271532-156273382	K562	blood:	n/a	chr3:156271916-156271923 chr3:156273112-156273121 chr3:156273110-156273123 chr3:156273110-156273123 chr3:156273110-156273118 chr3:156273110-156273123 chr3:156273112-156273121 chr3:156273111-156273122 chr3:156273271-156273280 chr3:156271915-156271924
25	SIN3AK20	chr3:156271612-156273644	MCF-7	breast:	n/a	n/a
26	TAF1	chr3:156272375-156273476	A549	lung:	n/a	n/a
27	EGR1	chr3:156272473-156273407	ECC-1	luminal epithelium:	n/a	chr3:156272990-156273004 chr3:156272688-156272698 chr3:156272989-156273002
28	MAX	chr3:156272303-156273485	A549	lung:	n/a	chr3:156273112-156273121 chr3:156273110-156273123 chr3:156273110-156273123 chr3:156273110-156273118 chr3:156273110-156273123 chr3:156273112-156273121 chr3:156273111-156273122 chr3:156273271-156273280
29	EGR1	chr3:156272334-156273572	HCT-116	colon:	n/a	chr3:156272990-156273004 chr3:156272688-156272698 chr3:156272989-156273002
30	MAZ	chr3:156272470-156273351	Hela-S3	cervix:	n/a	chr3:156273112-156273121 chr3:156273110-156273123 chr3:156273110-156273123 chr3:156273110-156273118 chr3:156273110-156273123 chr3:156273112-156273121 chr3:156273111-156273122 chr3:156273271-156273280
31	HEY1	chr3:156272453-156273026	HepG2	liver:	n/a	chr3:156272945-156272960
32	POLR2A	chr3:156272394-156273065	GM12878	blood:	n/a	n/a
33	SIN3A	chr3:156272417-156273461	GM12878	blood:	n/a	chr3:156273113-156273122 chr3:156272690-156272701 chr3:156273111-156273120 chr3:156272641-156272654
34	POLR2A	chr3:156272462-156273192	MCF-7	breast:	n/a	n/a
35	POLR2A	chr3:156272452-156273423	GM12892	blood:	n/a	n/a
36	POLR2A	chr3:156272481-156273012	GM12892	blood:	n/a	n/a
37	TEAD4	chr3:156272449-156273417	SK-N-SH	brain:	n/a	n/a
38	ETS1	chr3:156272479-156273345	GM12878	blood:	n/a	chr3:156273144-156273157
39	TAF1	chr3:156272458-156273454	H1-hESC	embryonic stem cell:	n/a	n/a
40	MAX	chr3:156272396-156273375	SK-N-SH	brain:	n/a	chr3:156273112-156273121 chr3:156273110-156273123 chr3:156273110-156273123 chr3:156273110-156273118 chr3:156273110-156273123 chr3:156273112-156273121 chr3:156273111-156273122 chr3:156273271-156273280
41	POLR2A	chr3:156272435-156273463	GM19099	blood:	n/a	n/a
42	MXI1	chr3:156271443-156273802	SK-N-SH	brain:	n/a	chr3:156273113-156273122
43	POLR2A	chr3:156272427-156273069	H1-hESC	embryonic stem cell:	n/a	n/a
44	YY1	chr3:156272423-156273205	HepG2	liver:	n/a	chr3:156272946-156272957 chr3:156272985-156272999
45	GABPA	chr3:156272390-156273523	MCF-7	breast:	n/a	chr3:156272988-156272997
46	YY1	chr3:156272406-156273560	A549	lung:	n/a	chr3:156272946-156272957 chr3:156272985-156272999
47	EP300	chr3:156272439-156273192	T-47D	breast:	n/a	chr3:156273093-156273100 chr3:156272986-156273002 chr3:156272953-156272962
48	TCF12	chr3:156272466-156273438	ECC-1	luminal epithelium:	n/a	chr3:156272617-156272627
49	CHD1	chr3:156272057-156273401	H1-hESC	embryonic stem cell:	n/a	n/a
50	POLR2A	chr3:156272361-156273057	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr3:156268357..156274553-chr3:156389283..156394606,15	MCF-7	breast:
2	chr3:156271607..156273392-chr3:156891262..156894145,2	K562	blood:
3	chr3:156260735..156275674-chr3:156389736..156397850,44	K562	blood:
4	chr3:156272367..156273011-chr6:42018008..42018602,2	Hela-S3	cervix:
5	chr3:156270403..156273229-chr3:156876136..156878579,3	K562	blood:
6	chr3:156271311..156273163-chr3:156875258..156877901,2	MCF-7	breast:
7	chr3:156268894..156273100-chr3:156541711..156545313,4	MCF-7	breast:
8	chr3:156270771..156274735-chr3:156390391..156394038,18	K562	blood:
9	chr3:156270417..156272669-chr3:156876892..156879496,3	MCF-7	breast:
10	chr3:156269857..156276442-chr3:156389324..156394083,11	MCF-7	breast:
11	chr3:156272378..156273447-chr3:156391539..156392497,3	NB4	blood:

Variant related genes	Relation type
SSR3	TF binding region
ENSG00000243176	Chromatin interaction
ENSG00000163660	Chromatin interaction
ENSG00000112576	Chromatin interaction
ENSG00000222675	Chromatin interaction
ENSG00000163659	Chromatin interaction
ENSG00000197980	Chromatin interaction
ENSG00000243926	Chromatin interaction
ENSG00000137413	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10936027	0.96[ASN][1000 genomes]
rs11710396	0.90[ASN][1000 genomes]
rs13065924	0.88[EUR][1000 genomes]
rs13068904	0.96[ASN][1000 genomes]
rs13083246	0.96[ASN][1000 genomes]
rs17354147	1.00[ASN][1000 genomes]
rs2874390	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3773713	0.82[EUR][1000 genomes]
rs3773717	1.00[ASN][1000 genomes]
rs6764265	0.96[ASN][1000 genomes]
rs6764992	0.96[ASN][1000 genomes]
rs6771728	1.00[ASN][1000 genomes]
rs6802811	1.00[ASN][1000 genomes]
rs71310479	0.96[ASN][1000 genomes]
rs71310481	1.00[ASN][1000 genomes]
rs8665	0.82[EUR][1000 genomes]
rs9837799	1.00[ASN][1000 genomes]
rs9917691	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1014755	chr3:155889430-156411894	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
2	nsv829764	chr3:156174824-156347774	Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs3773719	KCNAB1	Cis_1M	lymphoblastoid	RTeQTL
rs3773719	SSR3	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:156268200-156273400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr3:156270600-156273400	Active TSS	HSMMtube	muscle
3	chr3:156270800-156273800	Active TSS	Breast Myoepithelial Primary Cells	Breast
4	chr3:156271000-156273400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr3:156271000-156273400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr3:156271000-156273400	Active TSS	Left Ventricle	heart
7	chr3:156271000-156273400	Active TSS	Right Atrium	heart
8	chr3:156271000-156273400	Active TSS	Right Ventricle	heart
9	chr3:156271000-156273400	Active TSS	A549	lung
10	chr3:156271000-156273400	Active TSS	HMEC	breast
11	chr3:156271000-156273600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr3:156271000-156273600	Active TSS	Aorta	Aorta
13	chr3:156271000-156273600	Active TSS	Ovary	ovary
14	chr3:156271000-156273800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr3:156271200-156273400	Active TSS	NHLF	lung
16	chr3:156271200-156273600	Active TSS	iPS-15b Cell Line	embryonic stem cell
17	chr3:156271200-156273600	Active TSS	iPS-18 Cell Line	embryonic stem cell
18	chr3:156271200-156273600	Active TSS	Psoas Muscle	Psoas
19	chr3:156271200-156273800	Active TSS	ES-I3 Cell Line	embryonic stem cell
20	chr3:156271200-156273800	Active TSS	GM12878-XiMat	blood
21	chr3:156271400-156272600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr3:156271400-156273200	Active TSS	Fetal Muscle Leg	muscle
23	chr3:156271400-156273400	Active TSS	H1 Cell Line	embryonic stem cell
24	chr3:156271400-156273400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr3:156271400-156273600	Active TSS	Colonic Mucosa	Colon
26	chr3:156271600-156272800	Flanking Active TSS	Primary B cells from cord blood	blood
27	chr3:156271600-156272800	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
28	chr3:156271600-156273200	Active TSS	Muscle Satellite Cultured Cells	--
29	chr3:156271600-156273200	Active TSS	Rectal Smooth Muscle	rectum
30	chr3:156271600-156273200	Active TSS	NH-A	brain
31	chr3:156271600-156273400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr3:156271600-156273400	Active TSS	Fetal Intestine Large	intestine
33	chr3:156271600-156273400	Active TSS	NHDF-Ad	bronchial
34	chr3:156271600-156273600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
35	chr3:156271600-156273600	Active TSS	H9 Cell Line	embryonic stem cell
36	chr3:156271600-156273600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr3:156271600-156273800	Active TSS	HUES48 Cell Line	embryonic stem cell
38	chr3:156271600-156273800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr3:156271800-156272800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
40	chr3:156271800-156273000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr3:156271800-156273000	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
42	chr3:156271800-156273200	Active TSS	HUES64 Cell Line	embryonic stem cell
43	chr3:156271800-156273200	Active TSS	Thymus	Thymus
44	chr3:156271800-156273200	Active TSS	Hela-S3	cervix
45	chr3:156271800-156273200	Active TSS	Osteobl	bone
46	chr3:156271800-156273400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr3:156271800-156273400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr3:156271800-156273400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr3:156271800-156273400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr3:156271800-156273400	Active TSS	Duodenum Mucosa	Duodenum

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