Variant report

Variant	rs73773374
Chromosome Location	chr5:90677770-90677771
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr5:90675250-90680384	GM19099	blood:	n/a	n/a
2	POLR2A	chr5:90675273-90680230	HUVEC	blood vessel:	n/a	n/a
3	POLR2A	chr5:90675508-90680307	HUVEC	blood vessel:	n/a	n/a
4	POLR2A	chr5:90674657-90680962	MCF10A-Er-Src	breast:	n/a	n/a
5	POLR2A	chr5:90675650-90680258	K562	blood:	n/a	n/a
6	MAX	chr5:90677531-90678011	GM12878	blood:	n/a	n/a
7	TCF12	chr5:90675443-90677986	A549	lung:	n/a	n/a
8	TAF1	chr5:90677457-90678064	H1-hESC	embryonic stem cell:	n/a	n/a
9	CUX1	chr5:90676155-90677884	K562	blood:	n/a	n/a
10	POLR2A	chr5:90675390-90679948	GM19193	blood:	n/a	n/a
11	POLR2A	chr5:90674696-90680212	GM18505	blood:	n/a	n/a
12	IRF3	chr5:90677150-90677847	Hela-S3	cervix:	n/a	n/a
13	EP300	chr5:90676299-90678198	K562	blood:	n/a	chr5:90676915-90676931
14	KAP1	chr5:90677554-90678369	K562	blood:	n/a	n/a
15	JUND	chr5:90675587-90677948	H1-hESC	embryonic stem cell:	n/a	chr5:90676132-90676141
16	MAX	chr5:90677458-90680252	NB4	blood:	n/a	chr5:90678077-90678086 chr5:90678078-90678085
17	MXI1	chr5:90675698-90680110	GM12878	blood:	n/a	chr5:90676872-90676887 chr5:90677625-90677634
18	GATA1	chr5:90675347-90681151	PBDE	blood:	n/a	chr5:90680794-90680801 chr5:90680794-90680803 chr5:90680794-90680801 chr5:90675376-90675387 chr5:90680567-90680576 chr5:90680794-90680801
19	ELK1	chr5:90677275-90677958	K562	blood:	n/a	n/a
20	POLR2A	chr5:90675447-90678156	K562	blood:	n/a	n/a
21	SP4	chr5:90677380-90678058	H1-hESC	embryonic stem cell:	n/a	n/a
22	SIN3A	chr5:90677660-90677998	GM12878	blood:	n/a	n/a
23	KAP1	chr5:90677547-90680092	HEK293	kidney:	n/a	n/a
24	EP300	chr5:90676561-90677785	GM12878	blood:	n/a	chr5:90676915-90676931
25	POLR2A	chr5:90675603-90678075	K562	blood:	n/a	n/a
26	SP1	chr5:90677473-90678037	H1-hESC	embryonic stem cell:	n/a	n/a
27	BRCA1	chr5:90676993-90678103	H1-hESC	embryonic stem cell:	n/a	n/a
28	POLR2A	chr5:90675461-90680144	HCT-116	colon:	n/a	n/a
29	REST	chr5:90670312-90680754	H1-neurons	neurons:	n/a	chr5:90679211-90679220 chr5:90679214-90679227 chr5:90676125-90676138 chr5:90676125-90676138
30	MAX	chr5:90677489-90678556	H1-hESC	embryonic stem cell:	n/a	chr5:90678077-90678086 chr5:90678078-90678085
31	MAX	chr5:90675530-90680034	A549	lung:	n/a	chr5:90676126-90676136 chr5:90678077-90678086 chr5:90678078-90678085
32	USF2	chr5:90677467-90677814	K562	blood:	n/a	n/a
33	KAP1	chr5:90676989-90679748	U2OS	brain:	n/a	n/a
34	MYC	chr5:90677481-90680037	K562	blood:	n/a	chr5:90678077-90678086 chr5:90678078-90678085
35	USF2	chr5:90677098-90678051	GM12878	blood:	n/a	n/a
36	POLR2A	chr5:90675315-90680213	Hela-S3	cervix:	n/a	n/a
37	TBL1XR1	chr5:90675513-90679888	K562	blood:	n/a	n/a
38	SIN3AK20	chr5:90677488-90677911	SK-N-SH	brain:	n/a	n/a
39	BHLHE40	chr5:90675623-90678081	GM12878	blood:	n/a	chr5:90676915-90676931
40	POLR2A	chr5:90677542-90677801	ECC-1	luminal epithelium:	n/a	n/a
41	MXI1	chr5:90677545-90679980	Hela-S3	cervix:	n/a	chr5:90677625-90677634
42	CHD2	chr5:90675661-90677964	GM12878	blood:	n/a	chr5:90676000-90676010 chr5:90676134-90676144
43	POLR2A	chr5:90674512-90681010	IMR90	lung:	n/a	n/a
44	POLR2A	chr5:90677438-90678121	SK-N-MC	brain:	n/a	n/a
45	TBP	chr5:90675512-90680171	K562	blood:	n/a	n/a
46	POLR2A	chr5:90675588-90680122	HUVEC	blood vessel:	n/a	n/a
47	TAF1	chr5:90677544-90678086	H1-neurons	neurons:	n/a	n/a
48	REST	chr5:90677665-90680142	A549	lung:	n/a	chr5:90679211-90679220 chr5:90679214-90679227
49	POLR2A	chr5:90675602-90678063	K562	blood:	n/a	n/a
50	USF1	chr5:90677367-90677908	SK-N-SH	brain:	n/a	chr5:90677623-90677634

No.	Distal block	Cell Line	Cell type
1	chr5:90573090..90582351-chr5:90673821..90680716,23	K562	blood:
2	chr5:90574103..90582351-chr5:90673173..90681609,28	K562	blood:
3	chr12:54674300..54675185-chr5:90676892..90677795,2	Hela-S3	cervix:
4	chr5:89705042..89707173-chr5:90677000..90680355,4	K562	blood:
5	chr5:90605667..90612137-chr5:90676262..90681561,13	K562	blood:
6	chr5:89768584..89771978-chr5:90675764..90678297,3	K562	blood:
7	chr5:90648751..90650913-chr5:90677656..90680010,2	MCF-7	breast:
8	chr5:90574805..90578594-chr5:90673900..90681432,13	MCF-7	breast:
9	chr5:90607535..90610829-chr5:90673824..90679078,6	MCF-7	breast:
10	chr5:90512455..90524285-chr5:90673793..90683360,52	MCF-7	breast:
11	chr5:90607284..90611861-chr5:90674569..90683045,11	K562	blood:
12	chr5:90560937..90569122-chr5:90675177..90680484,12	K562	blood:
13	chr5:90676920..90679503-chr6:27100362..27101928,2	K562	blood:
14	chr5:90674940..90679357-chr5:98262514..98267275,7	K562	blood:
15	chr5:90566473..90568664-chr5:90676122..90678989,3	K562	blood:
16	chr5:90607483..90611926-chr5:90672625..90681906,20	MCF-7	breast:
17	chr5:90677652..90679304-chr5:98264702..98267275,2	K562	blood:
18	chr5:90512732..90524610-chr5:90674652..90682171,24	K562	blood:
19	chr5:90676216..90679010-chr5:94981409..94984145,2	K562	blood:
20	chr5:90513015..90523645-chr5:90674785..90682171,21	K562	blood:
21	chr5:90510244..90526030-chr5:90672528..90682389,53	MCF-7	breast:

Variant related genes	Relation type
ARRDC3	TF binding region
ENSG00000124635	Chromatin interaction
ENSG00000212930	Chromatin interaction
ENSG00000175449	Chromatin interaction
ENSG00000240388	Chromatin interaction
ENSG00000153140	Chromatin interaction
ENSG00000248489	Chromatin interaction
ENSG00000234292	Chromatin interaction
ENSG00000196787	Chromatin interaction
ENSG00000199643	Chromatin interaction
ENSG00000251093	Chromatin interaction
ENSG00000255647	Chromatin interaction
ENSG00000271762	Chromatin interaction
ENSG00000176055	Chromatin interaction
ENSG00000135486	Chromatin interaction
ENSG00000113356	Chromatin interaction
ENSG00000248323	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10514347	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10514348	0.88[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs10805875	0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1133120	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16869743	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs16869748	0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs16869750	0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs16876866	0.81[EUR][1000 genomes]
rs1807945	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2287875	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2303130	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4146346	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs56752631	0.81[EUR][1000 genomes]
rs73771404	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73771421	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73771425	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73773371	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73773378	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9918274	0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024813	chr5:90321535-90870739	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
2	nsv537806	chr5:90321535-90870739	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 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	chr5:90673800-90679800	Active TSS	NHLF	lung
2	chr5:90673800-90680800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr5:90674000-90680800	Active TSS	K562	blood
4	chr5:90674200-90680200	Active TSS	A549	lung
5	chr5:90674400-90680000	Active TSS	Rectal Mucosa Donor 29	rectum
6	chr5:90674400-90680200	Active TSS	iPS-15b Cell Line	embryonic stem cell
7	chr5:90674400-90680200	Active TSS	Brain Cingulate Gyrus	brain
8	chr5:90674400-90680800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr5:90674600-90679600	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
10	chr5:90674600-90679800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr5:90674600-90679800	Active TSS	Duodenum Mucosa	Duodenum
12	chr5:90674600-90679800	Active TSS	Fetal Muscle Leg	muscle
13	chr5:90674600-90679800	Active TSS	HSMMtube	muscle
14	chr5:90674600-90679800	Active TSS	NH-A	brain
15	chr5:90674600-90680000	Active TSS	HUES48 Cell Line	embryonic stem cell
16	chr5:90674600-90680000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr5:90674600-90680000	Active TSS	Brain Substantia Nigra	brain
18	chr5:90674600-90680000	Active TSS	Ovary	ovary
19	chr5:90674600-90680200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr5:90674600-90680200	Active TSS	Placenta Amnion	Placenta Amnion
21	chr5:90674600-90680400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr5:90674600-90680600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr5:90674600-90680600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr5:90674600-90680600	Active TSS	Psoas Muscle	Psoas
25	chr5:90674600-90680600	Active TSS	Right Ventricle	heart
26	chr5:90674600-90680800	Active TSS	ES-I3 Cell Line	embryonic stem cell
27	chr5:90674800-90679400	Active TSS	Primary T cells fromperipheralblood	blood
28	chr5:90674800-90679400	Active TSS	Skeletal Muscle Female	skeletal muscle
29	chr5:90674800-90679600	Active TSS	Fetal Thymus	thymus
30	chr5:90674800-90679600	Active TSS	Skeletal Muscle Male	skeletal muscle
31	chr5:90674800-90679800	Active TSS	Muscle Satellite Cultured Cells	--
32	chr5:90674800-90679800	Active TSS	Fetal Adrenal Gland	Adrenal Gland
33	chr5:90674800-90679800	Active TSS	Fetal Lung	lung
34	chr5:90674800-90679800	Active TSS	Fetal Stomach	stomach
35	chr5:90674800-90679800	Active TSS	Stomach Smooth Muscle	stomach
36	chr5:90674800-90679800	Active TSS	Hela-S3	cervix
37	chr5:90674800-90680000	Active TSS	Aorta	Aorta
38	chr5:90674800-90680000	Active TSS	Brain Inferior Temporal Lobe	brain
39	chr5:90674800-90680000	Active TSS	Fetal Kidney	kidney
40	chr5:90674800-90680000	Active TSS	HMEC	breast
41	chr5:90674800-90680200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr5:90674800-90680200	Active TSS	Breast Myoepithelial Primary Cells	Breast
43	chr5:90674800-90680200	Active TSS	Fetal Intestine Small	intestine
44	chr5:90674800-90680200	Active TSS	Pancreatic Islets	Pancreatic Islet
45	chr5:90674800-90680200	Active TSS	HSMM	muscle
46	chr5:90674800-90680200	Active TSS	NHDF-Ad	bronchial
47	chr5:90674800-90680800	Active TSS	Stomach Mucosa	stomach
48	chr5:90675000-90679400	Active TSS	Primary monocytes fromperipheralblood	blood
49	chr5:90675000-90679400	Active TSS	Primary T helper naive cells from peripheral blood	blood
50	chr5:90675000-90679400	Active TSS	Primary T helper cells PMA-I stimulated	--

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