Variant report

Variant	rs73848906
Chromosome Location	chr4:130017324-130017325
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:188)
CpG islands
(count:61)
Chromatin interactive
region (count:2)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:188 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SPI1	chr4:130017268-130017659	K562	blood:	n/a	chr4:130017514-130017527 chr4:130017515-130017524 chr4:130017513-130017526
2	MAZ	chr4:130017240-130017715	GM12878	blood:	n/a	n/a
3	MYC	chr4:130017213-130017665	NB4	blood:	n/a	n/a
4	ELF1	chr4:130017034-130017884	SK-N-SH	brain:	n/a	chr4:130017515-130017526
5	CTCF	chr4:130017285-130017351	Spleen_OC	spleen:	n/a	n/a
6	POLR2A	chr4:130017028-130017593	GM15510	blood:	n/a	n/a
7	POLR2A	chr4:130017079-130017697	GM12892	blood:	n/a	n/a
8	ELF1	chr4:130017075-130017888	HCT-116	colon:	n/a	chr4:130017515-130017526
9	TEAD4	chr4:130017033-130017734	K562	blood:	n/a	n/a
10	TAF1	chr4:130017188-130017491	GM12878	blood:	n/a	n/a
11	TAF1	chr4:130017201-130017487	GM12892	blood:	n/a	n/a
12	POLR2A	chr4:130017150-130017577	PFSK-1	brain:	n/a	n/a
13	POLR2A	chr4:130017059-130017706	SK-N-MC	brain:	n/a	n/a
14	ELF1	chr4:130017149-130017748	SK-N-SH	brain:	n/a	chr4:130017515-130017526
15	HDAC2	chr4:130017269-130017539	H1-hESC	embryonic stem cell:	n/a	n/a
16	POLR2A	chr4:130017296-130017400	HepG2	liver:	n/a	n/a
17	POLR2A	chr4:130017030-130017654	GM18526	blood:	n/a	n/a
18	POLR2A	chr4:130017024-130017675	K562	blood:	n/a	n/a
19	TAF1	chr4:130017111-130017578	GM12878	blood:	n/a	n/a
20	POLR2A	chr4:130017120-130017552	HCT-116	colon:	n/a	n/a
21	ELF1	chr4:130017180-130017685	HepG2	liver:	n/a	chr4:130017515-130017526
22	POLR2A	chr4:130017135-130017556	HUVEC	blood vessel:	n/a	n/a
23	FOS	chr4:130017193-130017486	MCF10A-Er-Src	breast:	n/a	chr4:130017411-130017425
24	MXI1	chr4:130017009-130017611	K562	blood:	n/a	n/a
25	POLR2A	chr4:130017108-130017662	NB4	blood:	n/a	n/a
26	POLR2A	chr4:130017041-130017858	MCF10A-Er-Src	breast:	n/a	n/a
27	RCOR1	chr4:130017167-130017674	GM12878	blood:	n/a	n/a
28	POLR2A	chr4:130016721-130017835	GM12891	blood:	n/a	n/a
29	POLR2A	chr4:130017132-130017545	HepG2	liver:	n/a	n/a
30	POLR2A	chr4:130017055-130017586	K562	blood:	n/a	n/a
31	STAT3	chr4:130016831-130017642	GM12878	blood:	n/a	chr4:130017514-130017521 chr4:130017623-130017631
32	MAX	chr4:130017161-130017539	K562	blood:	n/a	n/a
33	HCFC1	chr4:130017061-130017808	K562	blood:	n/a	n/a
34	MAX	chr4:130017060-130017772	HCT-116	colon:	n/a	n/a
35	POU2F2	chr4:130017283-130017480	GM12878	blood:	n/a	n/a
36	SP1	chr4:130017035-130017813	HCT-116	colon:	n/a	chr4:130017260-130017274 chr4:130017545-130017554 chr4:130017544-130017553 chr4:130017260-130017270 chr4:130017543-130017555 chr4:130017261-130017270 chr4:130017260-130017269 chr4:130017259-130017271 chr4:130017544-130017554 chr4:130017543-130017555 chr4:130017259-130017271
37	POLR2A	chr4:130017238-130017357	A549	lung:	n/a	n/a
38	MYC	chr4:130017130-130017532	MCF10A-Er-Src	breast:	n/a	n/a
39	RELA	chr4:130017130-130017742	GM12891	blood:	n/a	n/a
40	CUX1	chr4:130017173-130017859	K562	blood:	n/a	n/a
41	POLR2A	chr4:130017022-130017561	U87	brain:	n/a	n/a
42	BHLHE40	chr4:130017159-130017708	GM12878	blood:	n/a	n/a
43	POLR2A	chr4:130017099-130017569	ECC-1	luminal epithelium:	n/a	n/a
44	ELF1	chr4:130017214-130017680	A549	lung:	n/a	chr4:130017515-130017526
45	POLR2A	chr4:130017205-130017478	Hela-S3	cervix:	n/a	n/a
46	HEY1	chr4:130017141-130017582	K562	blood:	n/a	n/a
47	POLR2A	chr4:130016914-130017757	GM18505	blood:	n/a	n/a
48	POLR2A	chr4:130017033-130017738	K562	blood:	n/a	n/a
49	POLR2A	chr4:130017029-130017640	PFSK-1	brain:	n/a	n/a
50	MAX	chr4:130017161-130017430	K562	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:130017324-130017374	PANC-1	pancreas:	n/a
2	chr4:130017324-130017374	HEK293	kidney:	embryo
3	chr4:130017324-130017374	HPAEpiC	pulmonary alveolar:	n/a
4	chr4:130017324-130017374	SAEC	small airway:	n/a
5	chr4:130017324-130017374	A549	lung:	n/a
6	chr4:130017324-130017374	PrEC	prostate:	n/a
7	chr4:130017324-130017374	AG04449	skin:	fetal
8	chr4:130017324-130017374	GM19239	blood:	n/a
9	chr4:130017324-130017374	SK-N-MC	brain:	n/a
10	chr4:130017324-130017374	HAEpiC	amniotic membrane:	n/a
11	chr4:130017324-130017374	GM12891	blood:	n/a
12	chr4:130017324-130017374	HMEC	breast:	n/a
13	chr4:130017324-130017374	LNCaP	prostate:	n/a
14	chr4:130017324-130017374	HIPEpiC	eye:	n/a
15	chr4:130017324-130017374	MCF-7	breast:	n/a
16	chr4:130017324-130017374	AG09319	gingival:	n/a
17	chr4:130017324-130017374	Hepatocyte	liver:	n/a
18	chr4:130017324-130017374	BE2_C	brain:	n/a
19	chr4:130017324-130017374	HEEpiC	esophagus:	n/a
20	chr4:130017324-130017374	AG04450	lung:	fetal
21	chr4:130017324-130017374	HRCEpiC	kidney:	n/a
22	chr4:130017324-130017374	HRPEpiC	eye:	n/a
23	chr4:130017324-130017374	HUVEC	blood vessel:	n/a
24	chr4:130017324-130017374	AoSMC	blood vessel:	n/a
25	chr4:130017324-130017374	PFSK-1	brain:	n/a
26	chr4:130017324-130017374	HCPEpiC	choroid plexus:	n/a
27	chr4:130017324-130017374	GM06990	blood:	n/a
28	chr4:130017324-130017374	Hela-S3	cervix:	n/a
29	chr4:130017324-130017374	HNPCEpiC	eye:	n/a
30	chr4:130017324-130017374	NH-A	brain:	n/a
31	chr4:130017324-130017374	T-47D	breast:	n/a
32	chr4:130017324-130017374	AG09309	skin:	n/a
33	chr4:130017324-130017374	GM12878	blood:	n/a
34	chr4:130017324-130017374	K562	blood:	n/a
35	chr4:130017324-130017374	ProgFib	skin:	n/a
36	chr4:130017324-130017374	NHDF-neo	bronchial:	n/a
37	chr4:130017324-130017374	ovcar-3	ovarian:	n/a
38	chr4:130017324-130017374	SK-N-SH_RA	brain:	n/a
39	chr4:130017324-130017374	HL-60	blood:	n/a
40	chr4:130017324-130017374	HRE	kidney:	n/a
41	chr4:130017324-130017374	CMK	blood:	n/a
42	chr4:130017324-130017374	HCM	heart:	n/a
43	chr4:130017324-130017374	ECC-1	luminal epithelium:	n/a
44	chr4:130017324-130017374	RPTEC	kidney:	n/a
45	chr4:130017324-130017374	Caco-2	colon:	n/a
46	chr4:130017324-130017374	HCT-116	colon:	n/a
47	chr4:130017324-130017374	HCF	heart:	n/a
48	chr4:130017324-130017374	SK-N-SH	brain:	n/a
49	chr4:130017324-130017374	MCF10A-Er-Src	breast:	n/a
50	chr4:130017324-130017374	BJ	skin:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:130012621..130015537-chr4:130015842..130017627,2	K562	blood:
2	chr4:128703531..128705249-chr4:130014655..130017577,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PHF17-6	chr4:130017282-130017364	NONHSAT098290

No data

Variant related genes	Relation type
SCLT1	TF binding region
C4orf33	TF binding region
SCLT1	CpG island
C4orf33	CpG island
ENSG00000151466	Chromatin interaction
ENSG00000151470	Chromatin interaction
ENSG00000164070	Chromatin interaction

Extended variants
information (count: 66 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs55707740	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55714747	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55764329	0.82[AFR][1000 genomes]
rs55955516	0.91[AFR][1000 genomes]
rs56002856	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56069250	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56721576	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57056827	1.00[AMR][1000 genomes]
rs57243721	1.00[AMR][1000 genomes]
rs57542268	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58053026	0.82[AFR][1000 genomes]
rs58701517	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58799593	1.00[AMR][1000 genomes]
rs60005322	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60227965	1.00[AMR][1000 genomes]
rs61267810	0.91[AFR][1000 genomes]
rs61700015	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73847304	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73847305	0.91[AFR][1000 genomes]
rs73847310	0.82[AFR][1000 genomes]
rs73847312	1.00[AMR][1000 genomes]
rs73847313	1.00[AMR][1000 genomes]
rs73847314	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73847316	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73847317	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73847322	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73847323	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73847326	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73847327	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73847329	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73847331	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73847332	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73847333	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73847334	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73847341	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73847342	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73847345	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73847347	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73847354	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73847355	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73847356	0.82[AFR][1000 genomes]
rs73847358	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73847375	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73847378	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73847380	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73847383	1.00[AMR][1000 genomes]
rs73847391	1.00[AMR][1000 genomes]
rs73847392	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73847395	1.00[AMR][1000 genomes]
rs73847399	1.00[AMR][1000 genomes]
rs73848910	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73848913	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73848934	0.91[AFR][1000 genomes]
rs73850027	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73850028	1.00[AMR][1000 genomes]
rs73850035	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73850039	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73850041	1.00[AMR][1000 genomes]
rs73850059	1.00[AMR][1000 genomes]
rs73850061	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73850062	0.82[AFR][1000 genomes]
rs73850063	0.82[AFR][1000 genomes]
rs73850064	0.82[AFR][1000 genomes];1.00[AMR][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	nsv869258	chr4:129191619-130138148	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
2	nsv534538	chr4:129799138-130431688	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv879931	chr4:129939775-130178102	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:130012800-130018600	Active TSS	K562	blood
2	chr4:130015400-130017400	Flanking Active TSS	Dnd41	blood
3	chr4:130016800-130017400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
4	chr4:130016800-130017400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr4:130016800-130018000	Active TSS	Pancreatic Islets	Pancreatic Islet
6	chr4:130017000-130017400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr4:130017000-130017400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
8	chr4:130017000-130017400	Active TSS	Primary B cells from cord blood	blood
9	chr4:130017000-130017400	Flanking Active TSS	HUVEC	blood vessel
10	chr4:130017000-130017800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr4:130017000-130017800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr4:130017000-130017800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
13	chr4:130017000-130017800	Active TSS	Brain Germinal Matrix	brain
14	chr4:130017000-130017800	Active TSS	Brain Hippocampus Middle	brain
15	chr4:130017000-130017800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
16	chr4:130017000-130017800	Active TSS	Colon Smooth Muscle	Colon
17	chr4:130017000-130017800	Active TSS	Fetal Brain Female	brain
18	chr4:130017000-130017800	Active TSS	Ovary	ovary
19	chr4:130017000-130018000	Active TSS	ES-I3 Cell Line	embryonic stem cell
20	chr4:130017000-130018000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr4:130017000-130018000	Active TSS	HUES6 Cell Line	embryonic stem cell
22	chr4:130017000-130018000	Active TSS	iPS-18 Cell Line	embryonic stem cell
23	chr4:130017000-130018000	Active TSS	iPS-20b Cell Line	embryonic stem cell
24	chr4:130017000-130018000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr4:130017000-130018000	Flanking Active TSS	Primary hematopoietic stem cells	blood
26	chr4:130017000-130018000	Active TSS	Primary hematopoietic stem cells short term culture	blood
27	chr4:130017000-130018000	Active TSS	Muscle Satellite Cultured Cells	--
28	chr4:130017000-130018000	Active TSS	Liver	Liver
29	chr4:130017000-130018000	Active TSS	Brain Anterior Caudate	brain
30	chr4:130017000-130018000	Active TSS	Brain Cingulate Gyrus	brain
31	chr4:130017000-130018000	Active TSS	Brain Inferior Temporal Lobe	brain
32	chr4:130017000-130018000	Active TSS	Fetal Adrenal Gland	Adrenal Gland
33	chr4:130017000-130018000	Active TSS	Fetal Intestine Large	intestine
34	chr4:130017000-130018000	Active TSS	Fetal Kidney	kidney
35	chr4:130017000-130018000	Active TSS	Fetal Lung	lung
36	chr4:130017000-130018000	Active TSS	Fetal Muscle Leg	muscle
37	chr4:130017000-130018000	Active TSS	Fetal Thymus	thymus
38	chr4:130017000-130018000	Active TSS	Rectal Mucosa Donor 29	rectum
39	chr4:130017000-130018000	Active TSS	Rectal Smooth Muscle	rectum
40	chr4:130017000-130018000	Active TSS	Right Atrium	heart
41	chr4:130017000-130018000	Active TSS	Skeletal Muscle Male	skeletal muscle
42	chr4:130017000-130018000	Active TSS	Stomach Smooth Muscle	stomach
43	chr4:130017000-130018000	Active TSS	A549	lung
44	chr4:130017000-130018000	Active TSS	HMEC	breast
45	chr4:130017000-130018000	Active TSS	NHDF-Ad	bronchial
46	chr4:130017000-130018000	Active TSS	NHEK	skin
47	chr4:130017000-130018000	Active TSS	NHLF	lung
48	chr4:130017000-130018200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr4:130017000-130018200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr4:130017000-130018200	Active TSS	Duodenum Mucosa	Duodenum

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