Variant report

Variant	rs3019294
Chromosome Location	chr8:99838531-99838532
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:135)
CpG islands
(count:61)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:135 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr8:99837471-99838544	GM15510	blood:	n/a	n/a
2	EGR1	chr8:99838201-99838627	K562	blood:	n/a	n/a
3	JUND	chr8:99838149-99838655	K562	blood:	n/a	n/a
4	SIN3AK20	chr8:99837129-99838842	MCF-7	breast:	n/a	n/a
5	MYC	chr8:99838270-99838607	MCF10A-Er-Src	breast:	n/a	n/a
6	CEBPB	chr8:99838311-99838854	K562	blood:	n/a	chr8:99838620-99838633
7	ARID3A	chr8:99838272-99838703	HepG2	liver:	n/a	n/a
8	POLR2A	chr8:99838222-99838680	HepG2	liver:	n/a	n/a
9	SP1	chr8:99838213-99838574	H1-hESC	embryonic stem cell:	n/a	chr8:99838361-99838373 chr8:99838361-99838372 chr8:99838362-99838376 chr8:99838362-99838371 chr8:99838297-99838311
10	RCOR1	chr8:99838228-99838587	K562	blood:	n/a	n/a
11	STAT3	chr8:99838202-99838538	MCF10A-Er-Src	breast:	n/a	n/a
12	JUND	chr8:99838300-99838566	HepG2	liver:	n/a	n/a
13	TCF7L2	chr8:99838297-99838616	Hela-S3	cervix:	n/a	n/a
14	RAD21	chr8:99838232-99838531	IMR90	lung:	n/a	n/a
15	EP300	chr8:99838274-99838666	GM12878	blood:	n/a	n/a
16	POLR2A	chr8:99837509-99838607	HEK293	kidney:	n/a	n/a
17	GTF2F1	chr8:99838367-99838557	H1-hESC	embryonic stem cell:	n/a	n/a
18	MAZ	chr8:99837369-99838736	GM12878	blood:	n/a	chr8:99838261-99838270
19	KAP1	chr8:99838404-99838758	K562	blood:	n/a	n/a
20	BHLHE40	chr8:99838187-99838590	K562	blood:	n/a	chr8:99838303-99838319
21	BATF	chr8:99838226-99838579	GM12878	blood:	n/a	chr8:99838408-99838418 chr8:99838407-99838418
22	FOS	chr8:99838239-99838647	MCF10A-Er-Src	breast:	n/a	n/a
23	MXI1	chr8:99838236-99838597	Hela-S3	cervix:	n/a	n/a
24	POLR2A	chr8:99838255-99838572	K562	blood:	n/a	n/a
25	MAX	chr8:99838100-99838594	K562	blood:	n/a	chr8:99838261-99838270
26	POLR2A	chr8:99838237-99838650	MCF10A-Er-Src	breast:	n/a	n/a
27	ZMIZ1	chr8:99838321-99838639	K562	blood:	n/a	n/a
28	IRF1	chr8:99837529-99838706	K562	blood:	n/a	chr8:99837600-99837614 chr8:99838406-99838415 chr8:99838407-99838416
29	MAZ	chr8:99837106-99838755	IMR90	lung:	n/a	chr8:99838261-99838270
30	ZNF143	chr8:99838247-99838594	K562	blood:	n/a	n/a
31	USF1	chr8:99838202-99838540	A549	lung:	n/a	chr8:99838303-99838319
32	POLR2A	chr8:99837513-99838636	IMR90	lung:	n/a	n/a
33	POLR2A	chr8:99837631-99838645	K562	blood:	n/a	n/a
34	POLR2A	chr8:99837692-99838614	GM12878	blood:	n/a	n/a
35	POLR2A	chr8:99838165-99838601	SK-N-MC	brain:	n/a	n/a
36	POLR2A	chr8:99838236-99838627	SK-N-SH	brain:	n/a	n/a
37	FOSL2	chr8:99838242-99838657	A549	lung:	n/a	n/a
38	MAX	chr8:99838093-99838718	A549	lung:	n/a	chr8:99838261-99838270
39	CUX1	chr8:99838299-99838638	K562	blood:	n/a	n/a
40	ELK1	chr8:99838505-99838585	K562	blood:	n/a	n/a
41	POLR2A	chr8:99838221-99838539	ECC-1	luminal epithelium:	n/a	n/a
42	POLR2A	chr8:99838129-99838629	HCT-116	colon:	n/a	n/a
43	CBX3	chr8:99838123-99838593	K562	blood:	n/a	n/a
44	POLR2A	chr8:99838243-99838618	Hela-S3	cervix:	n/a	n/a
45	RCOR1	chr8:99838237-99838709	Hela-S3	cervix:	n/a	n/a
46	FOS	chr8:99838243-99838579	MCF10A-Er-Src	breast:	n/a	n/a
47	POLR2A	chr8:99837408-99838591	Hela-S3	cervix:	n/a	n/a
48	USF2	chr8:99838198-99838553	Hela-S3	cervix:	n/a	chr8:99838303-99838319
49	STAT3	chr8:99837650-99838539	MCF10A-Er-Src	breast:	n/a	chr8:99837893-99837901
50	POLR2A	chr8:99838218-99838553	ECC-1	luminal epithelium:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:99838488-99838538	Jurkat	blood:	n/a
2	chr8:99838488-99838538	HCT-116	colon:	n/a
3	chr8:99838488-99838538	T-47D	breast:	n/a
4	chr8:99838488-99838538	HUVEC	blood vessel:	n/a
5	chr8:99838488-99838538	AG10803	skin:	n/a
6	chr8:99838488-99838538	H1-hESC	embryonic stem cell:	embryo
7	chr8:99838488-99838538	NH-A	brain:	n/a
8	chr8:99838488-99838538	SK-N-MC	brain:	n/a
9	chr8:99838488-99838538	NT2-D1	testis:	n/a
10	chr8:99838488-99838538	A549	lung:	n/a
11	chr8:99838488-99838538	HAEpiC	amniotic membrane:	n/a
12	chr8:99838488-99838538	GM19239	blood:	n/a
13	chr8:99838488-99838538	AG04450	lung:	fetal
14	chr8:99838488-99838538	GM12892	blood:	n/a
15	chr8:99838488-99838538	HMEC	breast:	n/a
16	chr8:99838488-99838538	SK-N-SH	brain:	n/a
17	chr8:99838488-99838538	GM06990	blood:	n/a
18	chr8:99838488-99838538	HIPEpiC	eye:	n/a
19	chr8:99838488-99838538	NHBE	bronchial:	n/a
20	chr8:99838488-99838538	U87	brain:	n/a
21	chr8:99838488-99838538	HEEpiC	esophagus:	n/a
22	chr8:99838488-99838538	CMK	blood:	n/a
23	chr8:99838488-99838538	Hela-S3	cervix:	n/a
24	chr8:99838488-99838538	HepG2	liver:	n/a
25	chr8:99838488-99838538	AG09309	skin:	n/a
26	chr8:99838488-99838538	BJ	skin:	n/a
27	chr8:99838488-99838538	HEK293	kidney:	embryo
28	chr8:99838488-99838538	HCF	heart:	n/a
29	chr8:99838488-99838538	NHDF-neo	bronchial:	n/a
30	chr8:99838488-99838538	PANC-1	pancreas:	n/a
31	chr8:99838488-99838538	AG04449	skin:	fetal
32	chr8:99838488-99838538	K562	blood:	n/a
33	chr8:99838488-99838538	HRPEpiC	eye:	n/a
34	chr8:99838488-99838538	SKMC	muscle:	n/a
35	chr8:99838488-99838538	AoSMC	blood vessel:	n/a
36	chr8:99838488-99838538	GM12878	blood:	n/a
37	chr8:99838488-99838538	GM12891	blood:	n/a
38	chr8:99838488-99838538	Hepatocyte	liver:	n/a
39	chr8:99838488-99838538	Caco-2	colon:	n/a
40	chr8:99838488-99838538	AG09319	gingival:	n/a
41	chr8:99838488-99838538	RPTEC	kidney:	n/a
42	chr8:99838488-99838538	MCF10A-Er-Src	breast:	n/a
43	chr8:99838488-99838538	LNCaP	prostate:	n/a
44	chr8:99838488-99838538	BE2_C	brain:	n/a
45	chr8:99838488-99838538	PFSK-1	brain:	n/a
46	chr8:99838488-99838538	HRCEpiC	kidney:	n/a
47	chr8:99838488-99838538	ovcar-3	ovarian:	n/a
48	chr8:99838488-99838538	HRE	kidney:	n/a
49	chr8:99838488-99838538	PrEC	prostate:	n/a
50	chr8:99838488-99838538	ECC-1	luminal epithelium:	n/a

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:99837265..99839377-chr8:99931442..99933806,2	MCF-7	breast:
2	chr8:99836684..99839127-chr8:99955180..99958109,2	K562	blood:
3	chr8:99836481..99839453-chr8:99955374..99958557,4	MCF-7	breast:
4	chr8:99836199..99839281-chr8:99955647..99960130,4	K562	blood:
5	chr8:99838397..99840004-chr8:99859824..99862546,2	K562	blood:

No data

Variant related genes	Relation type
STK3	TF binding region
STK3	CpG island
ENSG00000223281	Chromatin interaction
ENSG00000164920	Chromatin interaction
ENSG00000271930	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs1476180	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1476182	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1545377	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2515218	1.00[ASW][hapmap];1.00[TSI][hapmap]
rs2515222	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3019285	0.81[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs3019287	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs985794	1.00[ASW][hapmap];1.00[TSI][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv891218	chr8:99507313-99906221	Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv1027025	chr8:99672977-100115315	Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	nsv539690	chr8:99672977-100115315	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
4	nsv891220	chr8:99681858-99867419	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
5	nsv1031089	chr8:99715785-100399935	Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
6	esv3451971	chr8:99836976-99839224	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:99836000-99838600	Active TSS	Right Atrium	heart
2	chr8:99836200-99838800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr8:99836400-99838600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr8:99836400-99838600	Active TSS	Placenta	Placenta
5	chr8:99836400-99838600	Active TSS	HSMMtube	muscle
6	chr8:99836400-99838800	Active TSS	Ovary	ovary
7	chr8:99836400-99839000	Active TSS	NHLF	lung
8	chr8:99836600-99838600	Active TSS	Pancreatic Islets	Pancreatic Islet
9	chr8:99836600-99838600	Active TSS	Stomach Smooth Muscle	stomach
10	chr8:99836600-99838600	Active TSS	Thymus	Thymus
11	chr8:99836600-99838800	Active TSS	Fetal Muscle Trunk	muscle
12	chr8:99836800-99838600	Active TSS	H1 Cell Line	embryonic stem cell
13	chr8:99836800-99838600	Active TSS	H9 Cell Line	embryonic stem cell
14	chr8:99836800-99838600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr8:99836800-99838600	Active TSS	iPS-15b Cell Line	embryonic stem cell
16	chr8:99836800-99838600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr8:99836800-99838600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr8:99836800-99838600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr8:99836800-99838600	Active TSS	Brain Inferior Temporal Lobe	brain
20	chr8:99836800-99838600	Active TSS	Fetal Brain Female	brain
21	chr8:99836800-99838600	Active TSS	Lung	lung
22	chr8:99836800-99838600	Active TSS	Pancreas	Pancrea
23	chr8:99836800-99838600	Active TSS	Rectal Mucosa Donor 29	rectum
24	chr8:99836800-99838600	Active TSS	NHDF-Ad	bronchial
25	chr8:99836800-99839000	Active TSS	Breast Myoepithelial Primary Cells	Breast
26	chr8:99837000-99838600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr8:99837000-99838600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr8:99837000-99838600	Active TSS	Muscle Satellite Cultured Cells	--
29	chr8:99837000-99838600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr8:99837000-99838600	Active TSS	Aorta	Aorta
31	chr8:99837000-99838600	Active TSS	Brain Angular Gyrus	brain
32	chr8:99837000-99838600	Active TSS	Brain Hippocampus Middle	brain
33	chr8:99837000-99838600	Active TSS	Fetal Muscle Leg	muscle
34	chr8:99837000-99838600	Active TSS	Sigmoid Colon	Sigmoid Colon
35	chr8:99837000-99838600	Active TSS	NH-A	brain
36	chr8:99837000-99838800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr8:99837000-99838800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr8:99837000-99838800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
39	chr8:99837000-99838800	Active TSS	Rectal Smooth Muscle	rectum
40	chr8:99837000-99839000	Active TSS	Psoas Muscle	Psoas
41	chr8:99837200-99838600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr8:99837200-99838600	Active TSS	Liver	Liver
43	chr8:99837200-99838600	Active TSS	Colonic Mucosa	Colon
44	chr8:99837200-99838600	Active TSS	Esophagus	oesophagus
45	chr8:99837200-99838600	Active TSS	Left Ventricle	heart
46	chr8:99837200-99838800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr8:99837400-99838600	Active TSS	Primary T cells from cord blood	blood
48	chr8:99837400-99838600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr8:99837400-99838800	Active TSS	Primary T helper cells PMA-I stimulated	--
50	chr8:99837400-99838800	Active TSS	Cortex derived primary cultured neurospheres	brain

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