Variant report

Variant	rs55840928
Chromosome Location	chr7:107204440-107204441
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:455)
CpG islands
(count:61)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:455 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr7:107203942-107204925	GM12892	blood:	n/a	n/a
2	CHD1	chr7:107204050-107204620	GM12878	blood:	n/a	n/a
3	POLR2A	chr7:107204110-107204728	HepG2	liver:	n/a	n/a
4	TAF1	chr7:107204229-107204583	GM12892	blood:	n/a	n/a
5	CEBPB	chr7:107204162-107204985	K562	blood:	n/a	n/a
6	YY1	chr7:107204189-107204565	HCT-116	colon:	n/a	n/a
7	NFIC	chr7:107203858-107204948	ECC-1	luminal epithelium:	n/a	n/a
8	CREB1	chr7:107203881-107205008	H1-hESC	embryonic stem cell:	n/a	n/a
9	CREB1	chr7:107204020-107204863	H1-hESC	embryonic stem cell:	n/a	n/a
10	POLR2A	chr7:107203706-107205633	Hela-S3	cervix:	n/a	n/a
11	FOXP2	chr7:107204045-107204723	PFSK-1	brain:	n/a	n/a
12	MAX	chr7:107203730-107205205	SK-N-SH	brain:	n/a	n/a
13	POLR2A	chr7:107203834-107205343	NB4	blood:	n/a	n/a
14	ZNF143	chr7:107204135-107204473	Hela-S3	cervix:	n/a	n/a
15	POLR2A	chr7:107203934-107205187	SK-N-MC	brain:	n/a	n/a
16	YY1	chr7:107203883-107204621	GM12892	blood:	n/a	n/a
17	BRCA1	chr7:107204080-107204579	HepG2	liver:	n/a	n/a
18	MAX	chr7:107204161-107205109	A549	lung:	n/a	n/a
19	E2F4	chr7:107204161-107204493	MCF10A-Er-Src	breast:	n/a	n/a
20	E2F4	chr7:107204025-107205008	K562	blood:	n/a	n/a
21	PBX3	chr7:107204035-107205071	SK-N-SH	brain:	n/a	n/a
22	SRF	chr7:107203923-107205148	MCF-7	breast:	n/a	n/a
23	MAX	chr7:107204147-107205164	GM12878	blood:	n/a	n/a
24	MAX	chr7:107204207-107204850	HepG2	liver:	n/a	n/a
25	POLR2A	chr7:107204069-107204861	GM12878	blood:	n/a	n/a
26	POLR2A	chr7:107204132-107204625	GM12891	blood:	n/a	n/a
27	POLR2A	chr7:107204075-107205094	GM19099	blood:	n/a	n/a
28	ZKSCAN1	chr7:107204124-107205192	Hela-S3	cervix:	n/a	n/a
29	EGR1	chr7:107204189-107204636	K562	blood:	n/a	n/a
30	RUNX3	chr7:107204116-107204981	GM12878	blood:	n/a	n/a
31	CEBPB	chr7:107204190-107204722	H1-hESC	embryonic stem cell:	n/a	n/a
32	MYC	chr7:107204064-107204869	MCF-7	breast:	n/a	n/a
33	MAX	chr7:107203542-107205207	K562	blood:	n/a	chr7:107203706-107203715
34	MAFK	chr7:107204265-107204500	HepG2	liver:	n/a	n/a
35	RFX5	chr7:107204148-107204667	HepG2	liver:	n/a	n/a
36	POLR2A	chr7:107203891-107205068	PFSK-1	brain:	n/a	n/a
37	TBP	chr7:107204148-107204489	Hela-S3	cervix:	n/a	n/a
38	CREB1	chr7:107204181-107204609	A549	lung:	n/a	n/a
39	JUND	chr7:107204039-107205116	GM12878	blood:	n/a	n/a
40	POLR2A	chr7:107203602-107205166	K562	blood:	n/a	n/a
41	E2F6	chr7:107204142-107204447	K562	blood:	n/a	n/a
42	MAZ	chr7:107204077-107204666	GM12878	blood:	n/a	n/a
43	POLR2A	chr7:107203780-107205298	K562	blood:	n/a	n/a
44	CHD2	chr7:107203638-107205123	Hela-S3	cervix:	n/a	n/a
45	MYC	chr7:107204133-107205314	K562	blood:	n/a	n/a
46	MAX	chr7:107203910-107205187	ECC-1	luminal epithelium:	n/a	n/a
47	GTF2B	chr7:107204243-107204480	K562	blood:	n/a	n/a
48	IRF1	chr7:107203650-107205028	K562	blood:	n/a	chr7:107203868-107203880
49	TBL1XR1	chr7:107204186-107205144	GM12878	blood:	n/a	n/a
50	STAT1	chr7:107204119-107204643	GM12878	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:107204399-107204449	PANC-1	pancreas:	n/a
2	chr7:107204399-107204449	CMK	blood:	n/a
3	chr7:107204399-107204449	ProgFib	skin:	n/a
4	chr7:107204399-107204449	HCF	heart:	n/a
5	chr7:107204399-107204449	HL-60	blood:	n/a
6	chr7:107204399-107204449	HCM	heart:	n/a
7	chr7:107204399-107204449	LNCaP	prostate:	n/a
8	chr7:107204399-107204449	NB4	blood:	n/a
9	chr7:107204399-107204449	ovcar-3	ovarian:	n/a
10	chr7:107204399-107204449	AG10803	skin:	n/a
11	chr7:107204399-107204449	AG04449	skin:	fetal
12	chr7:107204399-107204449	HNPCEpiC	eye:	n/a
13	chr7:107204399-107204449	IMR90	lung:	fetal
14	chr7:107204399-107204449	Caco-2	colon:	n/a
15	chr7:107204399-107204449	GM12878	blood:	n/a
16	chr7:107204399-107204449	HPAEpiC	pulmonary alveolar:	n/a
17	chr7:107204399-107204449	GM12891	blood:	n/a
18	chr7:107204399-107204449	HEEpiC	esophagus:	n/a
19	chr7:107204399-107204449	SK-N-MC	brain:	n/a
20	chr7:107204399-107204449	MCF10A-Er-Src	breast:	n/a
21	chr7:107204399-107204449	PrEC	prostate:	n/a
22	chr7:107204399-107204449	K562	blood:	n/a
23	chr7:107204399-107204449	HMEC	breast:	n/a
24	chr7:107204399-107204449	AG09319	gingival:	n/a
25	chr7:107204399-107204449	PFSK-1	brain:	n/a
26	chr7:107204399-107204449	RPTEC	kidney:	n/a
27	chr7:107204399-107204449	HRCEpiC	kidney:	n/a
28	chr7:107204399-107204449	AG09309	skin:	n/a
29	chr7:107204399-107204449	NT2-D1	testis:	n/a
30	chr7:107204399-107204449	GM19239	blood:	n/a
31	chr7:107204399-107204449	AoSMC	blood vessel:	n/a
32	chr7:107204399-107204449	Hela-S3	cervix:	n/a
33	chr7:107204399-107204449	BJ	skin:	n/a
34	chr7:107204399-107204449	HCPEpiC	choroid plexus:	n/a
35	chr7:107204399-107204449	HCT-116	colon:	n/a
36	chr7:107204399-107204449	ECC-1	luminal epithelium:	n/a
37	chr7:107204399-107204449	HRE	kidney:	n/a
38	chr7:107204399-107204449	SK-N-SH	brain:	n/a
39	chr7:107204399-107204449	HAEpiC	amniotic membrane:	n/a
40	chr7:107204399-107204449	U87	brain:	n/a
41	chr7:107204399-107204449	HRPEpiC	eye:	n/a
42	chr7:107204399-107204449	MCF-7	breast:	n/a
43	chr7:107204399-107204449	SKMC	muscle:	n/a
44	chr7:107204399-107204449	Jurkat	blood:	n/a
45	chr7:107204399-107204449	BE2_C	brain:	n/a
46	chr7:107204399-107204449	Hepatocyte	liver:	n/a
47	chr7:107204399-107204449	GM06990	blood:	n/a
48	chr7:107204399-107204449	HIPEpiC	eye:	n/a
49	chr7:107204399-107204449	HEK293	kidney:	embryo
50	chr7:107204399-107204449	AG04450	lung:	fetal

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:107203377..107205757-chr9:140116961..140119781,2	MCF-7	breast:
2	chr14:78227029..78227618-chr7:107203814..107204725,2	Hela-S3	cervix:
3	chr1:145507347..145508204-chr7:107203872..107204602,2	Hela-S3	cervix:
4	chr7:107203163..107205349-chr7:107383226..107385936,3	MCF-7	breast:
5	chr7:107202021..107207492-chr7:107217594..107222531,11	MCF-7	breast:
6	chr7:106808633..106810263-chr7:107202578..107204471,2	K562	blood:
7	chr7:106808633..106810586-chr7:107202578..107204934,3	K562	blood:
8	chr7:107202798..107206022-chr7:107208738..107213225,6	MCF-7	breast:
9	chr7:106420213..106422890-chr7:107201706..107205184,3	K562	blood:
10	chr7:107201923..107207041-chr7:107381527..107386474,7	K562	blood:
11	chr7:107202895..107206908-chr7:107531209..107533385,3	K562	blood:
12	chr7:107202748..107209925-chr7:107217558..107222659,11	MCF-7	breast:

No data

Variant related genes	Relation type
DUS4L	TF binding region
COG5	TF binding region
COG5	CpG island
DUS4L	CpG island
ENSG00000234222	Chromatin interaction
ENSG00000105865	Chromatin interaction
ENSG00000105879	Chromatin interaction
ENSG00000197734	Chromatin interaction
ENSG00000241764	Chromatin interaction
ENSG00000272854	Chromatin interaction
ENSG00000091140	Chromatin interaction
ENSG00000105856	Chromatin interaction
ENSG00000131795	Chromatin interaction
ENSG00000197191	Chromatin interaction
ENSG00000075790	Chromatin interaction
ENSG00000251978	Chromatin interaction
ENSG00000100603	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs17154043	1.00[AMR][1000 genomes]
rs17154159	0.81[AFR][1000 genomes]
rs17154167	0.81[AFR][1000 genomes]
rs56927744	0.81[AFR][1000 genomes]
rs58218888	0.81[AFR][1000 genomes]
rs58800910	0.81[AFR][1000 genomes]
rs59865183	0.81[AFR][1000 genomes]
rs60193047	0.81[AFR][1000 genomes]
rs73724068	1.00[AMR][1000 genomes]
rs73724069	1.00[AMR][1000 genomes]
rs73724070	1.00[AMR][1000 genomes]
rs73724516	0.81[AFR][1000 genomes]
rs73724519	0.81[AFR][1000 genomes]
rs73724521	0.81[AFR][1000 genomes]
rs73724523	0.87[AFR][1000 genomes]
rs73724525	0.85[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1033979	chr7:107003734-107877761	Strong transcription Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
2	nsv1028571	chr7:107114479-107299723	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv539053	chr7:107114479-107299723	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv482365	chr7:107122401-107271861	Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
5	nsv608074	chr7:107179131-107260856	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	24 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	chr7:107202200-107205800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr7:107202800-107205000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr7:107202800-107205600	Active TSS	HUES6 Cell Line	embryonic stem cell
4	chr7:107203000-107205000	Active TSS	Right Ventricle	heart
5	chr7:107203000-107205200	Active TSS	HUES48 Cell Line	embryonic stem cell
6	chr7:107203000-107205200	Active TSS	HUES64 Cell Line	embryonic stem cell
7	chr7:107203000-107205800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr7:107203200-107205000	Active TSS	Brain Substantia Nigra	brain
9	chr7:107203200-107205000	Active TSS	NHDF-Ad	bronchial
10	chr7:107203200-107205200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr7:107203200-107205800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr7:107203200-107206000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr7:107203400-107204600	Active TSS	Primary T cells fromperipheralblood	blood
14	chr7:107203400-107204800	Active TSS	Fetal Kidney	kidney
15	chr7:107203400-107204800	Active TSS	Stomach Smooth Muscle	stomach
16	chr7:107203400-107204800	Active TSS	K562	blood
17	chr7:107203400-107204800	Active TSS	NHEK	skin
18	chr7:107203400-107204800	Active TSS	NHLF	lung
19	chr7:107203400-107205000	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
20	chr7:107203400-107205000	Active TSS	Brain Inferior Temporal Lobe	brain
21	chr7:107203400-107205000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
22	chr7:107203400-107205000	Active TSS	Fetal Intestine Large	intestine
23	chr7:107203400-107205000	Active TSS	Thymus	Thymus
24	chr7:107203400-107205200	Active TSS	Fetal Muscle Leg	muscle
25	chr7:107203400-107205200	Active TSS	Psoas Muscle	Psoas
26	chr7:107203400-107205200	Active TSS	HMEC	breast
27	chr7:107203400-107205400	Active TSS	ES-I3 Cell Line	embryonic stem cell
28	chr7:107203400-107205400	Flanking Active TSS	Primary B cells from cord blood	blood
29	chr7:107203400-107205600	Active TSS	H1 Cell Line	embryonic stem cell
30	chr7:107203400-107205800	Active TSS	Breast Myoepithelial Primary Cells	Breast
31	chr7:107203600-107204600	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
32	chr7:107203600-107204600	Bivalent/Poised TSS	HepG2	liver
33	chr7:107203600-107204800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr7:107203600-107204800	Active TSS	Fetal Thymus	thymus
35	chr7:107203600-107204800	Active TSS	HSMMtube	muscle
36	chr7:107203600-107205000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr7:107203600-107205000	Active TSS	iPS-20b Cell Line	embryonic stem cell
38	chr7:107203600-107205000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr7:107203600-107205000	Active TSS	Duodenum Smooth Muscle	Duodenum
40	chr7:107203600-107205000	Active TSS	Pancreatic Islets	Pancreatic Islet
41	chr7:107203600-107205000	Active TSS	Fetal Stomach	stomach
42	chr7:107203600-107205000	Active TSS	Gastric	stomach
43	chr7:107203600-107205000	Active TSS	Pancreas	Pancrea
44	chr7:107203600-107205000	Active TSS	Sigmoid Colon	Sigmoid Colon
45	chr7:107203600-107205200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr7:107203600-107205200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr7:107203600-107205200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr7:107203600-107205200	Active TSS	iPS-15b Cell Line	embryonic stem cell
49	chr7:107203600-107205200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr7:107203600-107205200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin

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