Variant report

Variant	rs74910094
Chromosome Location	chr4:99578753-99578754
allele	A/G
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	GATA3	chr4:99578645-99578959	T-47D	breast:	n/a	chr4:99578848-99578856
2	TAF1	chr4:99578638-99579203	H1-neurons	neurons:	n/a	n/a
3	SIN3AK20	chr4:99578459-99579505	SK-N-SH	brain:	n/a	n/a
4	MXI1	chr4:99578625-99579002	H1-hESC	embryonic stem cell:	n/a	n/a
5	CEBPB	chr4:99578730-99578996	H1-hESC	embryonic stem cell:	n/a	n/a
6	POLR2A	chr4:99578453-99579234	U87	brain:	n/a	n/a
7	MAX	chr4:99578600-99580266	ECC-1	luminal epithelium:	n/a	chr4:99580230-99580240
8	MYC	chr4:99578739-99578946	HUVEC	blood vessel:	n/a	n/a
9	POLR2A	chr4:99578607-99580432	PBDE	blood:	n/a	n/a
10	POLR2A	chr4:99578475-99579140	U87	brain:	n/a	n/a
11	MAZ	chr4:99578350-99580808	IMR90	lung:	n/a	chr4:99580230-99580240 chr4:99578572-99578581
12	POLR2A	chr4:99578584-99579301	HUVEC	blood vessel:	n/a	n/a
13	POLR2A	chr4:99578651-99579062	SK-N-SH	brain:	n/a	n/a
14	RAD21	chr4:99577479-99580600	IMR90	lung:	n/a	n/a
15	E2F4	chr4:99578644-99578952	MCF10A-Er-Src	breast:	n/a	n/a
16	MYC	chr4:99578668-99579081	MCF10A-Er-Src	breast:	n/a	n/a
17	POLR2A	chr4:99578505-99580475	IMR90	lung:	n/a	n/a
18	RAD21	chr4:99578632-99579297	SK-N-SH_RA	brain:	n/a	n/a
19	POLR2A	chr4:99578464-99580441	HUVEC	blood vessel:	n/a	n/a
20	POLR2A	chr4:99578641-99579075	HCT-116	colon:	n/a	n/a
21	GATA2	chr4:99578225-99579395	SH-SY5Y	brain:	n/a	chr4:99579016-99579025 chr4:99578848-99578856 chr4:99579012-99579023 chr4:99579122-99579143
22	GATA2	chr4:99578404-99579310	HUVEC	blood vessel:	n/a	chr4:99579016-99579025 chr4:99578848-99578856 chr4:99579012-99579023 chr4:99579122-99579143
23	HA-E2F1	chr4:99578286-99580427	MCF-7	breast:	n/a	chr4:99579866-99579875 chr4:99579557-99579572
24	POLR2A	chr4:99578703-99579041	Gliobla	brain:	n/a	n/a
25	MAX	chr4:99578577-99580319	A549	lung:	n/a	chr4:99580230-99580240
26	E2F6	chr4:99578604-99579876	H1-hESC	embryonic stem cell:	n/a	chr4:99579866-99579875 chr4:99579557-99579572
27	MXI1	chr4:99578497-99580630	IMR90	lung:	n/a	n/a
28	POLR2A	chr4:99578571-99578951	PANC-1	pancreas:	n/a	n/a
29	MXI1	chr4:99576467-99580748	SK-N-SH	brain:	n/a	n/a
30	POLR2A	chr4:99578447-99579234	U87	brain:	n/a	n/a
31	E2F6	chr4:99578621-99579087	H1-hESC	embryonic stem cell:	n/a	n/a
32	POLR2A	chr4:99578566-99580234	H1-hESC	embryonic stem cell:	n/a	n/a
33	GATA3	chr4:99578455-99579162	SK-N-SH	brain:	n/a	chr4:99579016-99579025 chr4:99578848-99578856 chr4:99579012-99579023 chr4:99579122-99579143
34	GATA3	chr4:99578258-99579382	SK-N-SH	brain:	n/a	chr4:99579016-99579025 chr4:99578848-99578856 chr4:99579012-99579023 chr4:99579122-99579143
35	MAX	chr4:99578143-99579364	H1-hESC	embryonic stem cell:	n/a	chr4:99578572-99578581
36	MYC	chr4:99578738-99578782	MCF-7	breast:	n/a	n/a
37	POLR2A	chr4:99578440-99580324	H1-neurons	neurons:	n/a	n/a
38	RCOR1	chr4:99577675-99581955	IMR90	lung:	n/a	n/a
39	POLR2A	chr4:99578622-99579039	ProgFib	skin:	n/a	n/a
40	MAX	chr4:99578605-99580150	ECC-1	luminal epithelium:	n/a	n/a
41	RAD21	chr4:99578740-99579323	H1-hESC	embryonic stem cell:	n/a	n/a
42	RAD21	chr4:99578629-99579142	SK-N-SH_RA	brain:	n/a	n/a
43	MAX	chr4:99578489-99580495	SK-N-SH	brain:	n/a	chr4:99580230-99580240 chr4:99578572-99578581
44	TAF1	chr4:99578673-99579100	SK-N-SH	brain:	n/a	n/a
45	ZNF263	chr4:99578581-99580952	HEK293-T-REx	kidney:	n/a	n/a
46	MAX	chr4:99578617-99579023	H1-hESC	embryonic stem cell:	n/a	n/a
47	MYC	chr4:99578712-99579294	MCF10A-Er-Src	breast:	n/a	n/a
48	YY1	chr4:99578724-99579219	H1-hESC	embryonic stem cell:	n/a	n/a
49	POLR2A	chr4:99578733-99578909	H1-hESC	embryonic stem cell:	n/a	n/a
50	POLR2A	chr4:99578494-99579203	SK-N-SH	brain:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:99578720-99578770	HMEC	breast:	n/a
2	chr4:99578720-99578770	GM12878	blood:	n/a
3	chr4:99578720-99578770	ProgFib	skin:	n/a
4	chr4:99578720-99578770	SKMC	muscle:	n/a
5	chr4:99578720-99578770	PrEC	prostate:	n/a
6	chr4:99578720-99578770	AG04449	skin:	fetal
7	chr4:99578720-99578770	CMK	blood:	n/a
8	chr4:99578720-99578770	U87	brain:	n/a
9	chr4:99578720-99578770	NH-A	brain:	n/a
10	chr4:99578720-99578770	K562	blood:	n/a
11	chr4:99578720-99578770	Hela-S3	cervix:	n/a
12	chr4:99578720-99578770	HEK293	kidney:	embryo
13	chr4:99578720-99578770	AG09319	gingival:	n/a
14	chr4:99578720-99578770	BE2_C	brain:	n/a
15	chr4:99578720-99578770	AG10803	skin:	n/a
16	chr4:99578720-99578770	SAEC	small airway:	n/a
17	chr4:99578720-99578770	HL-60	blood:	n/a
18	chr4:99578720-99578770	AoSMC	blood vessel:	n/a
19	chr4:99578720-99578770	AG09309	skin:	n/a
20	chr4:99578720-99578770	NHBE	bronchial:	n/a
21	chr4:99578720-99578770	HIPEpiC	eye:	n/a
22	chr4:99578720-99578770	HEEpiC	esophagus:	n/a
23	chr4:99578720-99578770	GM19239	blood:	n/a
24	chr4:99578720-99578770	MCF10A-Er-Src	breast:	n/a
25	chr4:99578720-99578770	NHDF-neo	bronchial:	n/a
26	chr4:99578720-99578770	SK-N-SH_RA	brain:	n/a
27	chr4:99578720-99578770	HNPCEpiC	eye:	n/a
28	chr4:99578720-99578770	HCM	heart:	n/a
29	chr4:99578720-99578770	Caco-2	colon:	n/a
30	chr4:99578720-99578770	PFSK-1	brain:	n/a
31	chr4:99578720-99578770	GM12892	blood:	n/a
32	chr4:99578720-99578770	GM12891	blood:	n/a
33	chr4:99578720-99578770	Jurkat	blood:	n/a
34	chr4:99578720-99578770	HCPEpiC	choroid plexus:	n/a
35	chr4:99578720-99578770	HCT-116	colon:	n/a
36	chr4:99578720-99578770	IMR90	lung:	fetal
37	chr4:99578720-99578770	SK-N-MC	brain:	n/a
38	chr4:99578720-99578770	HAEpiC	amniotic membrane:	n/a
39	chr4:99578720-99578770	Hepatocyte	liver:	n/a
40	chr4:99578720-99578770	ovcar-3	ovarian:	n/a
41	chr4:99578720-99578770	A549	lung:	n/a
42	chr4:99578720-99578770	HRCEpiC	kidney:	n/a
43	chr4:99578720-99578770	H1-hESC	embryonic stem cell:	embryo
44	chr4:99578720-99578770	HRE	kidney:	n/a
45	chr4:99578720-99578770	HepG2	liver:	n/a
46	chr4:99578720-99578770	HUVEC	blood vessel:	n/a
47	chr4:99578720-99578770	T-47D	breast:	n/a
48	chr4:99578720-99578770	NB4	blood:	n/a
49	chr4:99578720-99578770	HPAEpiC	pulmonary alveolar:	n/a
50	chr4:99578720-99578770	PANC-1	pancreas:	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:99180743..99183219-chr4:99577927..99581407,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000260641	TF binding region
ENSG00000260641	CpG island
ENSG00000138698	Chromatin interaction
ENSG00000214559	Chromatin interaction

Extended variants
information (count: 2 )
Associated
traits (count: 0)

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	nsv966532	chr4:99571460-99581225	Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	esv3344423	chr4:99578554-99581102	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 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	chr4:99576600-99580800	Weak transcription	Hela-S3	cervix
2	chr4:99576800-99580400	Active TSS	NHLF	lung
3	chr4:99577000-99580400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr4:99577200-99578800	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr4:99577200-99580600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr4:99577200-99580600	Active TSS	Brain Angular Gyrus	brain
7	chr4:99577200-99580600	Active TSS	NHDF-Ad	bronchial
8	chr4:99577400-99578800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr4:99577400-99579400	Active TSS	Fetal Brain Male	brain
10	chr4:99577400-99580200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr4:99577400-99580400	Active TSS	Cortex derived primary cultured neurospheres	brain
12	chr4:99577400-99580400	Active TSS	HSMM	muscle
13	chr4:99577400-99580600	Active TSS	Brain Inferior Temporal Lobe	brain
14	chr4:99577400-99580800	Active TSS	Ovary	ovary
15	chr4:99577600-99578800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr4:99577600-99578800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
17	chr4:99577600-99580200	Active TSS	Brain Substantia Nigra	brain
18	chr4:99577600-99580200	Active TSS	NH-A	brain
19	chr4:99577600-99580400	Active TSS	Brain Cingulate Gyrus	brain
20	chr4:99577600-99580400	Active TSS	Brain Hippocampus Middle	brain
21	chr4:99577600-99580600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr4:99577600-99580600	Active TSS	Fetal Brain Female	brain
23	chr4:99577600-99580800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
24	chr4:99577800-99578800	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
25	chr4:99577800-99580200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr4:99577800-99580400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
27	chr4:99577800-99580400	Active TSS	Muscle Satellite Cultured Cells	--
28	chr4:99577800-99580600	Active TSS	HSMMtube	muscle
29	chr4:99578000-99578800	Flanking Bivalent TSS/Enh	Rectal Mucosa Donor 29	rectum
30	chr4:99578000-99578800	Flanking Active TSS	Stomach Smooth Muscle	stomach
31	chr4:99578000-99579000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
32	chr4:99578000-99579000	Flanking Active TSS	Fetal Muscle Leg	muscle
33	chr4:99578000-99579400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr4:99578000-99579400	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
35	chr4:99578000-99580000	Active TSS	Fetal Muscle Trunk	muscle
36	chr4:99578000-99580600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr4:99578000-99580600	Active TSS	Right Atrium	heart
38	chr4:99578000-99580800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
39	chr4:99578000-99581000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
40	chr4:99578200-99578800	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr4:99578200-99578800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr4:99578200-99578800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr4:99578200-99578800	Flanking Bivalent TSS/Enh	Duodenum Smooth Muscle	Duodenum
44	chr4:99578200-99579000	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr4:99578200-99579000	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
46	chr4:99578200-99579000	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
47	chr4:99578200-99579000	Flanking Active TSS	Fetal Thymus	thymus
48	chr4:99578200-99579400	Bivalent/Poised TSS	Brain Germinal Matrix	brain
49	chr4:99578200-99579400	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
50	chr4:99578200-99579400	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links