Variant report

Variant	rs34302928
Chromosome Location	chr4:130017563-130017564
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:134)
CpG islands
(count:61)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:134 , 50 per page) page: 1 2 3

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	POLR2A	chr4:130017028-130017593	GM15510	blood:	n/a	n/a
6	POLR2A	chr4:130017079-130017697	GM12892	blood:	n/a	n/a
7	ELF1	chr4:130017075-130017888	HCT-116	colon:	n/a	chr4:130017515-130017526
8	TEAD4	chr4:130017033-130017734	K562	blood:	n/a	n/a
9	POLR2A	chr4:130017150-130017577	PFSK-1	brain:	n/a	n/a
10	POLR2A	chr4:130017059-130017706	SK-N-MC	brain:	n/a	n/a
11	REST	chr4:130017357-130017644	K562	blood:	n/a	n/a
12	ELF1	chr4:130017149-130017748	SK-N-SH	brain:	n/a	chr4:130017515-130017526
13	POLR2A	chr4:130017030-130017654	GM18526	blood:	n/a	n/a
14	POLR2A	chr4:130017024-130017675	K562	blood:	n/a	n/a
15	TAF1	chr4:130017111-130017578	GM12878	blood:	n/a	n/a
16	ELF1	chr4:130017180-130017685	HepG2	liver:	n/a	chr4:130017515-130017526
17	MXI1	chr4:130017009-130017611	K562	blood:	n/a	n/a
18	POLR2A	chr4:130017108-130017662	NB4	blood:	n/a	n/a
19	POLR2A	chr4:130017041-130017858	MCF10A-Er-Src	breast:	n/a	n/a
20	RCOR1	chr4:130017167-130017674	GM12878	blood:	n/a	n/a
21	POLR2A	chr4:130016721-130017835	GM12891	blood:	n/a	n/a
22	POLR2A	chr4:130017055-130017586	K562	blood:	n/a	n/a
23	STAT3	chr4:130016831-130017642	GM12878	blood:	n/a	chr4:130017514-130017521 chr4:130017623-130017631
24	HCFC1	chr4:130017061-130017808	K562	blood:	n/a	n/a
25	MAX	chr4:130017060-130017772	HCT-116	colon:	n/a	n/a
26	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
27	RELA	chr4:130017130-130017742	GM12891	blood:	n/a	n/a
28	CUX1	chr4:130017173-130017859	K562	blood:	n/a	n/a
29	BHLHE40	chr4:130017159-130017708	GM12878	blood:	n/a	n/a
30	POLR2A	chr4:130017099-130017569	ECC-1	luminal epithelium:	n/a	n/a
31	ELF1	chr4:130017214-130017680	A549	lung:	n/a	chr4:130017515-130017526
32	HEY1	chr4:130017141-130017582	K562	blood:	n/a	n/a
33	POLR2A	chr4:130016914-130017757	GM18505	blood:	n/a	n/a
34	POLR2A	chr4:130017033-130017738	K562	blood:	n/a	n/a
35	POLR2A	chr4:130017029-130017640	PFSK-1	brain:	n/a	n/a
36	JUND	chr4:130016361-130017886	K562	blood:	n/a	chr4:130017505-130017517 chr4:130017411-130017425
37	MAX	chr4:130017146-130017623	NB4	blood:	n/a	n/a
38	MXI1	chr4:130016860-130018171	SK-N-SH	brain:	n/a	n/a
39	POLR2A	chr4:130017147-130017569	GM12891	blood:	n/a	n/a
40	NFIC	chr4:130017124-130017742	GM12878	blood:	n/a	n/a
41	KAP1	chr4:130016982-130017707	U2OS	brain:	n/a	n/a
42	POLR2A	chr4:130017137-130017645	SK-N-SH	brain:	n/a	n/a
43	ZNF143	chr4:130017035-130017709	GM12878	blood:	n/a	n/a
44	ELF1	chr4:130017029-130017794	HCT-116	colon:	n/a	chr4:130017515-130017526
45	EP300	chr4:130016759-130017821	K562	blood:	n/a	n/a
46	POLR2A	chr4:130017063-130017564	SK-N-MC	brain:	n/a	n/a
47	TAF1	chr4:130017186-130017573	H1-hESC	embryonic stem cell:	n/a	n/a
48	POLR2A	chr4:130016945-130017660	GM18951	blood:	n/a	n/a
49	POLR2A	chr4:130017036-130017651	K562	blood:	n/a	n/a
50	POLR2A	chr4:130017183-130017621	K562	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:130017530-130017580	HAEpiC	amniotic membrane:	n/a
2	chr4:130017530-130017580	Caco-2	colon:	n/a
3	chr4:130017530-130017580	AG10803	skin:	n/a
4	chr4:130017530-130017580	SKMC	muscle:	n/a
5	chr4:130017530-130017580	Hepatocyte	liver:	n/a
6	chr4:130017530-130017580	SK-N-SH	brain:	n/a
7	chr4:130017530-130017580	AG04450	lung:	fetal
8	chr4:130017530-130017580	GM12878	blood:	n/a
9	chr4:130017530-130017580	IMR90	lung:	fetal
10	chr4:130017530-130017580	HUVEC	blood vessel:	n/a
11	chr4:130017530-130017580	BE2_C	brain:	n/a
12	chr4:130017530-130017580	SK-N-MC	brain:	n/a
13	chr4:130017530-130017580	HRE	kidney:	n/a
14	chr4:130017530-130017580	K562	blood:	n/a
15	chr4:130017530-130017580	HCPEpiC	choroid plexus:	n/a
16	chr4:130017530-130017580	MCF-7	breast:	n/a
17	chr4:130017530-130017580	GM12892	blood:	n/a
18	chr4:130017530-130017580	HEEpiC	esophagus:	n/a
19	chr4:130017530-130017580	SK-N-SH_RA	brain:	n/a
20	chr4:130017530-130017580	AoSMC	blood vessel:	n/a
21	chr4:130017530-130017580	Hela-S3	cervix:	n/a
22	chr4:130017530-130017580	HNPCEpiC	eye:	n/a
23	chr4:130017530-130017580	RPTEC	kidney:	n/a
24	chr4:130017530-130017580	CMK	blood:	n/a
25	chr4:130017530-130017580	HPAEpiC	pulmonary alveolar:	n/a
26	chr4:130017530-130017580	GM12891	blood:	n/a
27	chr4:130017530-130017580	NHBE	bronchial:	n/a
28	chr4:130017530-130017580	A549	lung:	n/a
29	chr4:130017530-130017580	HRPEpiC	eye:	n/a
30	chr4:130017530-130017580	AG09309	skin:	n/a
31	chr4:130017530-130017580	T-47D	breast:	n/a
32	chr4:130017530-130017580	U87	brain:	n/a
33	chr4:130017530-130017580	BJ	skin:	n/a
34	chr4:130017530-130017580	SAEC	small airway:	n/a
35	chr4:130017530-130017580	ECC-1	luminal epithelium:	n/a
36	chr4:130017530-130017580	ovcar-3	ovarian:	n/a
37	chr4:130017530-130017580	HCT-116	colon:	n/a
38	chr4:130017530-130017580	LNCaP	prostate:	n/a
39	chr4:130017530-130017580	NHDF-neo	bronchial:	n/a
40	chr4:130017530-130017580	HRCEpiC	kidney:	n/a
41	chr4:130017530-130017580	NB4	blood:	n/a
42	chr4:130017530-130017580	HIPEpiC	eye:	n/a
43	chr4:130017530-130017580	ProgFib	skin:	n/a
44	chr4:130017530-130017580	HepG2	liver:	n/a
45	chr4:130017530-130017580	AG09319	gingival:	n/a
46	chr4:130017530-130017580	HL-60	blood:	n/a
47	chr4:130017530-130017580	GM19239	blood:	n/a
48	chr4:130017530-130017580	PANC-1	pancreas:	n/a
49	chr4:130017530-130017580	AG04449	skin:	fetal
50	chr4:130017530-130017580	PFSK-1	brain:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr4:130012621..130015537-chr4:130015842..130017627,2	K562	blood:
2	chr4:128703531..128705249-chr4:130014655..130017577,2	K562	blood:
3	chr4:130017343..130020226-chr4:130031173..130032927,2	K562	blood:

No data

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

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10518543	0.86[ASN][1000 genomes]
rs12648004	0.93[ASN][1000 genomes]
rs13106626	0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13124870	0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13127992	0.93[ASN][1000 genomes]
rs13136209	0.90[ASN][1000 genomes]
rs13138537	0.90[ASN][1000 genomes]
rs13139306	0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17014149	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17014190	0.86[AFR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17184802	0.93[ASN][1000 genomes]
rs2068135	0.93[ASN][1000 genomes]
rs2068136	0.96[ASN][1000 genomes]
rs28643269	0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs33999735	0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35053690	0.93[ASN][1000 genomes]
rs35128288	0.90[ASN][1000 genomes]
rs35149191	0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35199409	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35388412	0.93[ASN][1000 genomes]
rs35412182	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs36000518	0.90[ASN][1000 genomes]
rs36101862	0.90[ASN][1000 genomes]
rs36128858	0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs71612199	0.90[ASN][1000 genomes]
rs71613905	0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs71613907	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs71613908	0.93[ASN][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	chr4:130016800-130018000	Active TSS	Pancreatic Islets	Pancreatic Islet
3	chr4:130017000-130017800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr4:130017000-130017800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr4:130017000-130017800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
6	chr4:130017000-130017800	Active TSS	Brain Germinal Matrix	brain
7	chr4:130017000-130017800	Active TSS	Brain Hippocampus Middle	brain
8	chr4:130017000-130017800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
9	chr4:130017000-130017800	Active TSS	Colon Smooth Muscle	Colon
10	chr4:130017000-130017800	Active TSS	Fetal Brain Female	brain
11	chr4:130017000-130017800	Active TSS	Ovary	ovary
12	chr4:130017000-130018000	Active TSS	ES-I3 Cell Line	embryonic stem cell
13	chr4:130017000-130018000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr4:130017000-130018000	Active TSS	HUES6 Cell Line	embryonic stem cell
15	chr4:130017000-130018000	Active TSS	iPS-18 Cell Line	embryonic stem cell
16	chr4:130017000-130018000	Active TSS	iPS-20b Cell Line	embryonic stem cell
17	chr4:130017000-130018000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr4:130017000-130018000	Flanking Active TSS	Primary hematopoietic stem cells	blood
19	chr4:130017000-130018000	Active TSS	Primary hematopoietic stem cells short term culture	blood
20	chr4:130017000-130018000	Active TSS	Muscle Satellite Cultured Cells	--
21	chr4:130017000-130018000	Active TSS	Liver	Liver
22	chr4:130017000-130018000	Active TSS	Brain Anterior Caudate	brain
23	chr4:130017000-130018000	Active TSS	Brain Cingulate Gyrus	brain
24	chr4:130017000-130018000	Active TSS	Brain Inferior Temporal Lobe	brain
25	chr4:130017000-130018000	Active TSS	Fetal Adrenal Gland	Adrenal Gland
26	chr4:130017000-130018000	Active TSS	Fetal Intestine Large	intestine
27	chr4:130017000-130018000	Active TSS	Fetal Kidney	kidney
28	chr4:130017000-130018000	Active TSS	Fetal Lung	lung
29	chr4:130017000-130018000	Active TSS	Fetal Muscle Leg	muscle
30	chr4:130017000-130018000	Active TSS	Fetal Thymus	thymus
31	chr4:130017000-130018000	Active TSS	Rectal Mucosa Donor 29	rectum
32	chr4:130017000-130018000	Active TSS	Rectal Smooth Muscle	rectum
33	chr4:130017000-130018000	Active TSS	Right Atrium	heart
34	chr4:130017000-130018000	Active TSS	Skeletal Muscle Male	skeletal muscle
35	chr4:130017000-130018000	Active TSS	Stomach Smooth Muscle	stomach
36	chr4:130017000-130018000	Active TSS	A549	lung
37	chr4:130017000-130018000	Active TSS	HMEC	breast
38	chr4:130017000-130018000	Active TSS	NHDF-Ad	bronchial
39	chr4:130017000-130018000	Active TSS	NHEK	skin
40	chr4:130017000-130018000	Active TSS	NHLF	lung
41	chr4:130017000-130018200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr4:130017000-130018200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr4:130017000-130018200	Active TSS	Duodenum Mucosa	Duodenum
44	chr4:130017000-130018200	Active TSS	Rectal Mucosa Donor 31	rectum
45	chr4:130017000-130018200	Active TSS	HepG2	liver
46	chr4:130017000-130018600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr4:130017200-130017600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr4:130017200-130017600	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr4:130017200-130017600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr4:130017200-130017600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell

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