Variant report

Variant	rs17323034
Chromosome Location	chr4:119606518-119606519
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:415)
CpG islands
(count:122)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:415 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	IRF1	chr4:119605925-119606811	K562	blood:	n/a	chr4:119606500-119606514
2	CEBPB	chr4:119606045-119606725	MCF-7	breast:	n/a	chr4:119606438-119606449
3	POLR2A	chr4:119605934-119606844	HCT-116	colon:	n/a	n/a
4	MAX	chr4:119606061-119606981	GM12878	blood:	n/a	n/a
5	TCF7L2	chr4:119606318-119606921	Hela-S3	cervix:	n/a	chr4:119606903-119606913
6	POLR2A	chr4:119606148-119607028	PBDE	blood:	n/a	n/a
7	ELF1	chr4:119606331-119607002	SK-N-SH	brain:	n/a	chr4:119606510-119606519 chr4:119606509-119606520
8	IRF3	chr4:119606396-119606702	GM12878	blood:	n/a	chr4:119606500-119606514
9	GABPA	chr4:119605971-119607150	A549	lung:	n/a	n/a
10	POLR2A	chr4:119606054-119607128	GM12892	blood:	n/a	n/a
11	GTF2F1	chr4:119606029-119606775	Hela-S3	cervix:	n/a	n/a
12	SRF	chr4:119605766-119607052	HCT-116	colon:	n/a	n/a
13	SRF	chr4:119606284-119606786	ECC-1	luminal epithelium:	n/a	n/a
14	POLR2A	chr4:119605684-119606965	GM12878	blood:	n/a	n/a
15	POLR2A	chr4:119606018-119607137	SK-N-MC	brain:	n/a	n/a
16	CTCF	chr4:119606460-119606610	GM12874	blood:	n/a	chr4:119606492-119606510 chr4:119606495-119606508
17	CREB1	chr4:119606166-119607002	K562	blood:	n/a	n/a
18	TEAD4	chr4:119606320-119606896	HepG2	liver:	n/a	n/a
19	POLR2A	chr4:119606261-119606913	GM10847	blood:	n/a	n/a
20	TAF1	chr4:119606278-119606753	GM12891	blood:	n/a	n/a
21	CEBPB	chr4:119606254-119606702	HepG2	liver:	n/a	chr4:119606438-119606449
22	POLR2A	chr4:119606215-119607021	GM19193	blood:	n/a	n/a
23	POLR2A	chr4:119606210-119606946	K562	blood:	n/a	n/a
24	MYC	chr4:119606262-119607080	K562	blood:	n/a	n/a
25	HDAC2	chr4:119606256-119606632	HepG2	liver:	n/a	n/a
26	STAT3	chr4:119606437-119606686	MCF10A-Er-Src	breast:	n/a	n/a
27	JUN	chr4:119606356-119607162	H1-hESC	embryonic stem cell:	n/a	chr4:119606672-119606686
28	MYC	chr4:119606297-119606945	NB4	blood:	n/a	n/a
29	POLR2A	chr4:119606217-119606962	MCF10A-Er-Src	breast:	n/a	n/a
30	POLR2A	chr4:119605794-119607092	GM12892	blood:	n/a	n/a
31	CTCF	chr4:119606460-119606799	IMR90	lung:	n/a	chr4:119606492-119606510 chr4:119606495-119606508
32	SRF	chr4:119606274-119606801	MCF-7	breast:	n/a	n/a
33	MAZ	chr4:119605906-119606995	K562	blood:	n/a	n/a
34	MAX	chr4:119606220-119607073	ECC-1	luminal epithelium:	n/a	n/a
35	POLR2A	chr4:119605949-119606928	K562	blood:	n/a	n/a
36	RUNX3	chr4:119606186-119606980	GM12878	blood:	n/a	chr4:119606954-119606971
37	ELK4	chr4:119606331-119606767	Hela-S3	cervix:	n/a	chr4:119606507-119606518 chr4:119606541-119606552
38	POLR2A	chr4:119606267-119607039	Hela-S3	cervix:	n/a	n/a
39	SP1	chr4:119606176-119606746	H1-hESC	embryonic stem cell:	n/a	chr4:119606497-119606511 chr4:119606500-119606511
40	GABPA	chr4:119605713-119607340	MCF-7	breast:	n/a	n/a
41	SP1	chr4:119606270-119606721	A549	lung:	n/a	chr4:119606497-119606511 chr4:119606500-119606511
42	POLR2A	chr4:119606233-119606933	Hela-S3	cervix:	n/a	n/a
43	REST	chr4:119606284-119607037	HL-60	blood:	n/a	n/a
44	POLR2A	chr4:119605987-119607113	H1-neurons	neurons:	n/a	n/a
45	CEBPD	chr4:119606218-119606910	K562	blood:	n/a	n/a
46	TBP	chr4:119605923-119606845	GM12878	blood:	n/a	n/a
47	CHD2	chr4:119606282-119606818	H1-hESC	embryonic stem cell:	n/a	n/a
48	POU2F2	chr4:119606227-119606859	GM12891	blood:	n/a	n/a
49	MAX	chr4:119606238-119606982	NB4	blood:	n/a	n/a
50	POLR2A	chr4:119606190-119606879	NB4	blood:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:119606506-119606556	HPAEpiC	pulmonary alveolar:	n/a
2	chr4:119606478-119606528	HL-60	blood:	n/a
3	chr4:119606506-119606556	SAEC	small airway:	n/a
4	chr4:119606478-119606528	AoSMC	blood vessel:	n/a
5	chr4:119606478-119606528	SK-N-MC	brain:	n/a
6	chr4:119606506-119606556	Jurkat	blood:	n/a
7	chr4:119606478-119606528	SK-N-SH_RA	brain:	n/a
8	chr4:119606478-119606528	NB4	blood:	n/a
9	chr4:119606478-119606528	AG04450	lung:	fetal
10	chr4:119606478-119606528	SKMC	muscle:	n/a
11	chr4:119606506-119606556	HRCEpiC	kidney:	n/a
12	chr4:119606506-119606556	CMK	blood:	n/a
13	chr4:119606478-119606528	HMEC	breast:	n/a
14	chr4:119606506-119606556	GM12892	blood:	n/a
15	chr4:119606506-119606556	HMEC	breast:	n/a
16	chr4:119606506-119606556	AG10803	skin:	n/a
17	chr4:119606478-119606528	AG09319	gingival:	n/a
18	chr4:119606478-119606528	CMK	blood:	n/a
19	chr4:119606506-119606556	IMR90	lung:	fetal
20	chr4:119606506-119606556	SK-N-SH	brain:	n/a
21	chr4:119606506-119606556	HCM	heart:	n/a
22	chr4:119606478-119606528	NH-A	brain:	n/a
23	chr4:119606506-119606556	NB4	blood:	n/a
24	chr4:119606478-119606528	GM19239	blood:	n/a
25	chr4:119606478-119606528	HNPCEpiC	eye:	n/a
26	chr4:119606478-119606528	RPTEC	kidney:	n/a
27	chr4:119606478-119606528	HCT-116	colon:	n/a
28	chr4:119606478-119606528	Hela-S3	cervix:	n/a
29	chr4:119606478-119606528	ECC-1	luminal epithelium:	n/a
30	chr4:119606506-119606556	HUVEC	blood vessel:	n/a
31	chr4:119606506-119606556	ovcar-3	ovarian:	n/a
32	chr4:119606478-119606528	MCF-7	breast:	n/a
33	chr4:119606478-119606528	HEK293	kidney:	embryo
34	chr4:119606506-119606556	HEEpiC	esophagus:	n/a
35	chr4:119606478-119606528	IMR90	lung:	fetal
36	chr4:119606478-119606528	GM12892	blood:	n/a
37	chr4:119606506-119606556	Hepatocyte	liver:	n/a
38	chr4:119606506-119606556	AG04450	lung:	fetal
39	chr4:119606506-119606556	K562	blood:	n/a
40	chr4:119606478-119606528	BJ	skin:	n/a
41	chr4:119606506-119606556	MCF10A-Er-Src	breast:	n/a
42	chr4:119606506-119606556	SKMC	muscle:	n/a
43	chr4:119606506-119606556	HCT-116	colon:	n/a
44	chr4:119606478-119606528	HepG2	liver:	n/a
45	chr4:119606506-119606556	U87	brain:	n/a
46	chr4:119606506-119606556	NT2-D1	testis:	n/a
47	chr4:119606506-119606556	HNPCEpiC	eye:	n/a
48	chr4:119606478-119606528	GM12891	blood:	n/a
49	chr4:119606506-119606556	SK-N-MC	brain:	n/a
50	chr4:119606506-119606556	BE2_C	brain:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:65588119..65589078-chr4:119606291..119607029,3	Hela-S3	cervix:
2	chr4:119199307..119202288-chr4:119603050..119607934,6	MCF-7	breast:

No data

Variant related genes	Relation type
METTL14	TF binding region
METTL14	CpG island
ENSG00000269893	Chromatin interaction
ENSG00000199568	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs11098451	0.92[CEU][hapmap];0.83[TSI][hapmap];0.84[EUR][1000 genomes]
rs11931194	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11938970	0.92[CEU][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17257039	0.83[CEU][hapmap];1.00[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs17257945	0.92[CEU][hapmap];1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17258050	0.83[CEU][hapmap];1.00[AFR][1000 genomes]
rs17258106	1.00[ASW][hapmap];0.92[CEU][hapmap];1.00[MEX][hapmap];0.83[TSI][hapmap];1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17258830	0.83[CEU][hapmap];0.83[TSI][hapmap]
rs17258907	0.80[CEU][hapmap]
rs17323012	1.00[ASW][hapmap];0.92[CEU][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17323877	1.00[ASW][hapmap];0.83[CEU][hapmap];1.00[MEX][hapmap];0.83[TSI][hapmap];1.00[AFR][1000 genomes]
rs17324807	0.89[CEU][hapmap]
rs17324821	0.88[CEU][hapmap]
rs17324884	1.00[ASW][hapmap];0.83[CEU][hapmap]
rs17324968	1.00[ASW][hapmap];0.83[CEU][hapmap];1.00[MEX][hapmap];0.83[TSI][hapmap]
rs28595532	0.84[EUR][1000 genomes]
rs28600971	0.84[EUR][1000 genomes]
rs28627331	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs41455648	1.00[ASW][hapmap];0.92[CEU][hapmap];1.00[MEX][hapmap];0.83[TSI][hapmap];0.84[EUR][1000 genomes]
rs55634130	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56000725	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56225646	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56389935	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs73842212	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv519017	chr4:118828807-119771481	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	esv3355840	chr4:119296640-119774737	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv427693	chr4:119493919-119674742	Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 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	chr4:119605200-119607400	Active TSS	Hela-S3	cervix
2	chr4:119605800-119606600	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr4:119605800-119607200	Active TSS	Brain Cingulate Gyrus	brain
4	chr4:119605800-119607200	Active TSS	Fetal Lung	lung
5	chr4:119605800-119607400	Active TSS	HMEC	breast
6	chr4:119605800-119607800	Active TSS	A549	lung
7	chr4:119606000-119606600	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
8	chr4:119606000-119606800	Active TSS	Primary T helper cells fromperipheralblood	blood
9	chr4:119606000-119606800	Active TSS	Rectal Mucosa Donor 31	rectum
10	chr4:119606000-119607000	Active TSS	Primary hematopoietic stem cells	blood
11	chr4:119606000-119607000	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr4:119606000-119607000	Active TSS	Adipose Nuclei	Adipose
13	chr4:119606000-119607000	Active TSS	Skeletal Muscle Female	skeletal muscle
14	chr4:119606000-119607000	Active TSS	Monocytes-CD14+_RO01746	blood
15	chr4:119606000-119607200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr4:119606000-119607200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr4:119606000-119607200	Active TSS	Primary T cells fromperipheralblood	blood
18	chr4:119606000-119607200	Active TSS	Primary T helper naive cells fromperipheralblood	blood
19	chr4:119606000-119607200	Active TSS	Primary T helper cells PMA-I stimulated	--
20	chr4:119606000-119607200	Active TSS	Primary T regulatory cells fromperipheralblood	blood
21	chr4:119606000-119607200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr4:119606000-119607200	Active TSS	Liver	Liver
23	chr4:119606000-119607200	Active TSS	Brain Hippocampus Middle	brain
24	chr4:119606000-119607200	Active TSS	Brain Inferior Temporal Lobe	brain
25	chr4:119606000-119607200	Active TSS	Brain Substantia Nigra	brain
26	chr4:119606000-119607200	Active TSS	Colon Smooth Muscle	Colon
27	chr4:119606000-119607200	Active TSS	Duodenum Smooth Muscle	Duodenum
28	chr4:119606000-119607200	Active TSS	Esophagus	oesophagus
29	chr4:119606000-119607200	Active TSS	Fetal Adrenal Gland	Adrenal Gland
30	chr4:119606000-119607200	Active TSS	Pancreas	Pancrea
31	chr4:119606000-119607200	Active TSS	Rectal Smooth Muscle	rectum
32	chr4:119606000-119607200	Active TSS	Skeletal Muscle Male	skeletal muscle
33	chr4:119606000-119607200	Active TSS	Thymus	Thymus
34	chr4:119606000-119607200	Active TSS	Spleen	Spleen
35	chr4:119606000-119607200	Active TSS	HUVEC	blood vessel
36	chr4:119606000-119607200	Active TSS	Osteobl	bone
37	chr4:119606000-119607400	Active TSS	HUES6 Cell Line	embryonic stem cell
38	chr4:119606000-119607400	Active TSS	HUES64 Cell Line	embryonic stem cell
39	chr4:119606000-119607400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr4:119606000-119607400	Active TSS	Primary hematopoietic stem cells short term culture	blood
41	chr4:119606000-119607400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr4:119606000-119607400	Active TSS	Brain Angular Gyrus	brain
43	chr4:119606000-119607400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
44	chr4:119606000-119607400	Active TSS	Fetal Brain Male	brain
45	chr4:119606000-119607400	Active TSS	Fetal Heart	heart
46	chr4:119606000-119607400	Active TSS	Fetal Kidney	kidney
47	chr4:119606000-119607400	Active TSS	Placenta	Placenta
48	chr4:119606000-119607400	Active TSS	Fetal Stomach	stomach
49	chr4:119606000-119607400	Active TSS	Rectal Mucosa Donor 29	rectum
50	chr4:119606000-119607400	Active TSS	GM12878-XiMat	blood

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