Variant report

Variant	rs74130919
Chromosome Location	chr1:193090658-193090659
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:295)
CpG islands
(count:61)
Chromatin interactive
region (count:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:295 , 50 per page) page: 1 2 3 4 5 6

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TEAD4	chr1:193090615-193091575	H1-hESC	embryonic stem cell:	n/a	n/a
2	ELF1	chr1:193090616-193091440	K562	blood:	n/a	chr1:193091110-193091119
3	RAD21	chr1:193090557-193091884	HCT-116	colon:	n/a	chr1:193091046-193091060 chr1:193091507-193091520 chr1:193091508-193091518 chr1:193091045-193091064
4	YY1	chr1:193090616-193091713	K562	blood:	n/a	chr1:193091107-193091121 chr1:193091113-193091122 chr1:193091110-193091124
5	BCLAF1	chr1:193090613-193091688	GM12878	blood:	n/a	chr1:193091106-193091119 chr1:193091047-193091060
6	POLR2A	chr1:193090613-193091710	HUVEC	blood vessel:	n/a	n/a
7	MYC	chr1:193090612-193091833	NB4	blood:	n/a	chr1:193090815-193090830
8	TCF7L2	chr1:193090630-193091665	Hela-S3	cervix:	n/a	n/a
9	MAX	chr1:193090538-193091629	H1-hESC	embryonic stem cell:	n/a	chr1:193090815-193090830
10	SIN3AK20	chr1:193090597-193091922	K562	blood:	n/a	n/a
11	POLR2A	chr1:193090648-193091789	GM12878	blood:	n/a	n/a
12	POLR2A	chr1:193089868-193092218	GM12891	blood:	n/a	n/a
13	MAZ	chr1:193089945-193092145	K562	blood:	n/a	chr1:193090815-193090830
14	MAX	chr1:193090488-193091750	HepG2	liver:	n/a	chr1:193090815-193090830
15	POLR2A	chr1:193090593-193091799	K562	blood:	n/a	n/a
16	TBL1XR1	chr1:193090626-193092239	K562	blood:	n/a	n/a
17	ATF2	chr1:193090559-193091269	H1-hESC	embryonic stem cell:	n/a	n/a
18	MYC	chr1:193090584-193091725	K562	blood:	n/a	chr1:193090815-193090830
19	SIX5	chr1:193090497-193092027	A549	lung:	n/a	n/a
20	POLR2A	chr1:193089736-193091785	K562	blood:	n/a	n/a
21	MAX	chr1:193090479-193091645	ECC-1	luminal epithelium:	n/a	chr1:193090815-193090830
22	BHLHE40	chr1:193090312-193091791	GM12878	blood:	n/a	chr1:193091108-193091124 chr1:193091104-193091120 chr1:193091105-193091121
23	POLR2A	chr1:193090541-193091781	PFSK-1	brain:	n/a	n/a
24	E2F6	chr1:193090650-193091416	K562	blood:	n/a	chr1:193091113-193091122 chr1:193091111-193091121
25	CBX3	chr1:193090544-193091950	K562	blood:	n/a	n/a
26	MYC	chr1:193090655-193091658	Hela-S3	cervix:	n/a	chr1:193090815-193090830
27	MXI1	chr1:193090646-193091979	K562	blood:	n/a	n/a
28	CREB1	chr1:193090655-193091421	ECC-1	luminal epithelium:	n/a	n/a
29	HDAC2	chr1:193090617-193091271	HepG2	liver:	n/a	n/a
30	NFIC	chr1:193090370-193091807	GM12878	blood:	n/a	n/a
31	POLR2A	chr1:193090607-193091826	GM19099	blood:	n/a	n/a
32	PML	chr1:193090652-193091563	MCF-7	breast:	n/a	n/a
33	NR2F2	chr1:193090631-193091817	MCF-7	breast:	n/a	n/a
34	ZBTB7A	chr1:193090557-193091659	K562	blood:	n/a	n/a
35	POLR2A	chr1:193090584-193091782	MCF10A-Er-Src	breast:	n/a	n/a
36	BCL3	chr1:193090633-193091739	A549	lung:	n/a	chr1:193091106-193091119 chr1:193091047-193091060
37	TAF1	chr1:193090573-193091649	MCF-7	breast:	n/a	n/a
38	RCOR1	chr1:193089823-193092061	K562	blood:	n/a	n/a
39	POLR2A	chr1:193090647-193091591	H1-neurons	neurons:	n/a	n/a
40	BHLHE40	chr1:193089597-193092059	K562	blood:	n/a	chr1:193091108-193091124 chr1:193091104-193091120 chr1:193091105-193091121
41	RELA	chr1:193090655-193091804	GM19099	blood:	n/a	n/a
42	TEAD4	chr1:193090397-193092175	K562	blood:	n/a	n/a
43	ZEB1	chr1:193090584-193091478	GM12878	blood:	n/a	n/a
44	RELA	chr1:193090402-193091877	GM10847	blood:	n/a	n/a
45	SP1	chr1:193090544-193091802	A549	lung:	n/a	chr1:193091534-193091543 chr1:193091533-193091543 chr1:193091109-193091122 chr1:193091532-193091544 chr1:193091532-193091544
46	POLR2A	chr1:193090631-193091654	H1-neurons	neurons:	n/a	n/a
47	POLR2A	chr1:193090605-193091812	GM15510	blood:	n/a	n/a
48	UBTF	chr1:193090655-193091612	K562	blood:	n/a	n/a
49	ELF1	chr1:193090533-193091671	MCF-7	breast:	n/a	chr1:193091110-193091119
50	MAX	chr1:193090536-193091714	K562	blood:	n/a	chr1:193090815-193090830

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:193090657-193090707	MCF10A-Er-Src	breast:	n/a
2	chr1:193090657-193090707	NT2-D1	testis:	n/a
3	chr1:193090657-193090707	PFSK-1	brain:	n/a
4	chr1:193090657-193090707	AG09309	skin:	n/a
5	chr1:193090657-193090707	LNCaP	prostate:	n/a
6	chr1:193090657-193090707	GM12891	blood:	n/a
7	chr1:193090657-193090707	HRE	kidney:	n/a
8	chr1:193090657-193090707	K562	blood:	n/a
9	chr1:193090657-193090707	HRPEpiC	eye:	n/a
10	chr1:193090657-193090707	NHDF-neo	bronchial:	n/a
11	chr1:193090657-193090707	HCPEpiC	choroid plexus:	n/a
12	chr1:193090657-193090707	AoSMC	blood vessel:	n/a
13	chr1:193090657-193090707	GM19239	blood:	n/a
14	chr1:193090657-193090707	T-47D	breast:	n/a
15	chr1:193090657-193090707	HNPCEpiC	eye:	n/a
16	chr1:193090657-193090707	RPTEC	kidney:	n/a
17	chr1:193090657-193090707	ProgFib	skin:	n/a
18	chr1:193090657-193090707	CMK	blood:	n/a
19	chr1:193090657-193090707	SK-N-SH_RA	brain:	n/a
20	chr1:193090657-193090707	HUVEC	blood vessel:	n/a
21	chr1:193090657-193090707	NH-A	brain:	n/a
22	chr1:193090657-193090707	AG04449	skin:	fetal
23	chr1:193090657-193090707	HPAEpiC	pulmonary alveolar:	n/a
24	chr1:193090657-193090707	Caco-2	colon:	n/a
25	chr1:193090657-193090707	HAEpiC	amniotic membrane:	n/a
26	chr1:193090657-193090707	AG04450	lung:	fetal
27	chr1:193090657-193090707	HepG2	liver:	n/a
28	chr1:193090657-193090707	HRCEpiC	kidney:	n/a
29	chr1:193090657-193090707	Hela-S3	cervix:	n/a
30	chr1:193090657-193090707	NHBE	bronchial:	n/a
31	chr1:193090657-193090707	BE2_C	brain:	n/a
32	chr1:193090657-193090707	MCF-7	breast:	n/a
33	chr1:193090657-193090707	GM12892	blood:	n/a
34	chr1:193090657-193090707	Hepatocyte	liver:	n/a
35	chr1:193090657-193090707	PrEC	prostate:	n/a
36	chr1:193090657-193090707	HMEC	breast:	n/a
37	chr1:193090657-193090707	AG09319	gingival:	n/a
38	chr1:193090657-193090707	SK-N-SH	brain:	n/a
39	chr1:193090657-193090707	HEK293	kidney:	embryo
40	chr1:193090657-193090707	HL-60	blood:	n/a
41	chr1:193090657-193090707	GM12878	blood:	n/a
42	chr1:193090657-193090707	PANC-1	pancreas:	n/a
43	chr1:193090657-193090707	GM06990	blood:	n/a
44	chr1:193090657-193090707	NB4	blood:	n/a
45	chr1:193090657-193090707	HCM	heart:	n/a
46	chr1:193090657-193090707	ovcar-3	ovarian:	n/a
47	chr1:193090657-193090707	H1-hESC	embryonic stem cell:	embryo
48	chr1:193090657-193090707	HEEpiC	esophagus:	n/a
49	chr1:193090657-193090707	U87	brain:	n/a
50	chr1:193090657-193090707	HCT-116	colon:	n/a

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:193025655..193031465-chr1:193087281..193093381,17	MCF-7	breast:
2	chr1:193071491..193076891-chr1:193086924..193094906,44	MCF-7	breast:
3	chr1:193073789..193075142-chr1:193090301..193091722,13	MCF-7	breast:
4	chr1:193058724..193061368-chr1:193089881..193091482,2	MCF-7	breast:
5	chr1:193071213..193080146-chr1:193088491..193094639,51	MCF-7	breast:
6	chr1:193020543..193046917-chr1:193069266..193098746,125	K562	blood:
7	chr1:193090572..193091349-chrX:40439702..40440665,2	Hela-S3	cervix:
8	chr1:193089186..193093634-chr1:193104182..193110601,11	MCF-7	breast:
9	chr1:193090572..193091307-chr6:86388342..86389319,2	Hela-S3	cervix:
10	chr1:193018810..193043703-chr1:193079188..193098601,93	K562	blood:
11	chr1:193074154..193074843-chr1:193090653..193091665,4	HCT-116	colon:
12	chr1:193073395..193075181-chr1:193090593..193091565,9	MCF-7	breast:
13	chr1:192778197..192780684-chr1:193088490..193091041,2	K562	blood:
14	chr1:193025349..193030732-chr1:193089240..193093287,15	MCF-7	breast:

No data

Variant related genes	Relation type
CDC73	TF binding region
CDC73	CpG island
ENSG00000116747	Chromatin interaction
ENSG00000023572	Chromatin interaction
ENSG00000221680	Chromatin interaction
ENSG00000116741	Chromatin interaction
ENSG00000116750	Chromatin interaction
ENSG00000182220	Chromatin interaction
ENSG00000272579	Chromatin interaction
ENSG00000203875	Chromatin interaction
ENSG00000238754	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs16835169	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs6665739	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs6665751	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs74130925	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs74130929	0.85[AMR][1000 genomes]
rs74130930	0.85[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532618	chr1:192537006-193149179	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 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	chr1:193087600-193092800	Active TSS	K562	blood
2	chr1:193090000-193090800	Flanking Active TSS	Dnd41	blood
3	chr1:193090000-193092000	Active TSS	Fetal Brain Female	brain
4	chr1:193090000-193092200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr1:193090000-193092400	Active TSS	Brain Inferior Temporal Lobe	brain
6	chr1:193090200-193090800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr1:193090200-193090800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr1:193090200-193090800	Flanking Active TSS	GM12878-XiMat	blood
9	chr1:193090200-193090800	Flanking Active TSS	HUVEC	blood vessel
10	chr1:193090200-193091200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr1:193090200-193091600	Bivalent/Poised TSS	Brain Germinal Matrix	brain
12	chr1:193090200-193091800	Active TSS	Primary T helper naive cells from peripheral blood	blood
13	chr1:193090200-193091800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr1:193090200-193091800	Active TSS	Adipose Nuclei	Adipose
15	chr1:193090200-193091800	Active TSS	Rectal Mucosa Donor 31	rectum
16	chr1:193090200-193092000	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
17	chr1:193090200-193092000	Active TSS	Skeletal Muscle Male	skeletal muscle
18	chr1:193090200-193092000	Active TSS	Stomach Smooth Muscle	stomach
19	chr1:193090200-193092200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr1:193090200-193092200	Active TSS	Fetal Brain Male	brain
21	chr1:193090200-193092400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr1:193090200-193092400	Active TSS	Fetal Muscle Leg	muscle
23	chr1:193090200-193092400	Active TSS	Psoas Muscle	Psoas
24	chr1:193090200-193092600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr1:193090200-193092600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
26	chr1:193090200-193092600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr1:193090200-193092600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr1:193090200-193092600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
29	chr1:193090200-193092600	Active TSS	Osteobl	bone
30	chr1:193090200-193092800	Active TSS	HUES6 Cell Line	embryonic stem cell
31	chr1:193090200-193092800	Active TSS	Brain Angular Gyrus	brain
32	chr1:193090200-193092800	Active TSS	Fetal Kidney	kidney
33	chr1:193090200-193092800	Active TSS	Pancreatic Islets	Pancreatic Islet
34	chr1:193090200-193092800	Active TSS	Rectal Smooth Muscle	rectum
35	chr1:193090200-193093000	Active TSS	H1 Cell Line	embryonic stem cell
36	chr1:193090200-193093000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr1:193090200-193093000	Active TSS	HUES64 Cell Line	embryonic stem cell
38	chr1:193090200-193093600	Active TSS	NHDF-Ad	bronchial
39	chr1:193090200-193094000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr1:193090400-193090800	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
41	chr1:193090400-193090800	Flanking Active TSS	Primary B cells from peripheral blood	blood
42	chr1:193090400-193090800	Flanking Active TSS	Primary T cells from cord blood	blood
43	chr1:193090400-193090800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
44	chr1:193090400-193090800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
45	chr1:193090400-193090800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
46	chr1:193090400-193090800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
47	chr1:193090400-193090800	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
48	chr1:193090400-193090800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
49	chr1:193090400-193090800	Flanking Active TSS	Fetal Thymus	thymus
50	chr1:193090400-193090800	Flanking Active TSS	Hela-S3	cervix

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