Variant report

Variant	rs563415782
Chromosome Location	chr7:50861697-50861698
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:16)
CpG islands
(count:61)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:16 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr7:50859051-50861836	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr7:50859765-50861894	Hela-S3	cervix:	n/a	n/a
3	ZNF263	chr7:50859053-50862355	HEK293-T-REx	kidney:	n/a	chr7:50861142-50861151
4	GATA1	chr7:50861381-50862027	PBDE	blood:	n/a	n/a
5	SIN3A	chr7:50861387-50861745	H1-hESC	embryonic stem cell:	n/a	chr7:50861409-50861420
6	RCOR1	chr7:50860974-50861778	K562	blood:	n/a	n/a
7	MAZ	chr7:50859892-50861717	IMR90	lung:	n/a	chr7:50860937-50860947 chr7:50860539-50860549 chr7:50861424-50861434 chr7:50860216-50860225
8	POLR2A	chr7:50860814-50861702	HUVEC	blood vessel:	n/a	n/a
9	POLR2A	chr7:50859743-50861717	K562	blood:	n/a	n/a
10	POLR2A	chr7:50860507-50861710	HUVEC	blood vessel:	n/a	n/a
11	POLR2A	chr7:50859691-50861820	IMR90	lung:	n/a	n/a
12	TBP	chr7:50860932-50861802	K562	blood:	n/a	n/a
13	JUND	chr7:50861518-50861930	H1-hESC	embryonic stem cell:	n/a	n/a
14	ZMIZ1	chr7:50861536-50861963	K562	blood:	n/a	n/a
15	POLR2A	chr7:50854537-50861857	HUVEC	blood vessel:	n/a	n/a
16	MAZ	chr7:50859876-50861806	K562	blood:	n/a	chr7:50860937-50860947 chr7:50860539-50860549 chr7:50861424-50861434 chr7:50860216-50860225

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:50861654-50861704	HIPEpiC	eye:	n/a
2	chr7:50861654-50861704	BE2_C	brain:	n/a
3	chr7:50861654-50861704	ProgFib	skin:	n/a
4	chr7:50861654-50861704	PFSK-1	brain:	n/a
5	chr7:50861654-50861704	GM19239	blood:	n/a
6	chr7:50861654-50861704	Hepatocyte	liver:	n/a
7	chr7:50861654-50861704	HAEpiC	amniotic membrane:	n/a
8	chr7:50861654-50861704	SK-N-SH	brain:	n/a
9	chr7:50861654-50861704	SKMC	muscle:	n/a
10	chr7:50861654-50861704	NB4	blood:	n/a
11	chr7:50861654-50861704	AG09309	skin:	n/a
12	chr7:50861654-50861704	SK-N-SH_RA	brain:	n/a
13	chr7:50861654-50861704	ovcar-3	ovarian:	n/a
14	chr7:50861654-50861704	AG04450	lung:	fetal
15	chr7:50861654-50861704	GM06990	blood:	n/a
16	chr7:50861654-50861704	HPAEpiC	pulmonary alveolar:	n/a
17	chr7:50861654-50861704	HEEpiC	esophagus:	n/a
18	chr7:50861654-50861704	HMEC	breast:	n/a
19	chr7:50861654-50861704	AG10803	skin:	n/a
20	chr7:50861654-50861704	GM12892	blood:	n/a
21	chr7:50861654-50861704	LNCaP	prostate:	n/a
22	chr7:50861654-50861704	A549	lung:	n/a
23	chr7:50861654-50861704	NT2-D1	testis:	n/a
24	chr7:50861654-50861704	HL-60	blood:	n/a
25	chr7:50861654-50861704	SK-N-MC	brain:	n/a
26	chr7:50861654-50861704	U87	brain:	n/a
27	chr7:50861654-50861704	RPTEC	kidney:	n/a
28	chr7:50861654-50861704	Caco-2	colon:	n/a
29	chr7:50861654-50861704	MCF-7	breast:	n/a
30	chr7:50861654-50861704	HNPCEpiC	eye:	n/a
31	chr7:50861654-50861704	K562	blood:	n/a
32	chr7:50861654-50861704	BJ	skin:	n/a
33	chr7:50861654-50861704	GM12891	blood:	n/a
34	chr7:50861654-50861704	HCM	heart:	n/a
35	chr7:50861654-50861704	ECC-1	luminal epithelium:	n/a
36	chr7:50861654-50861704	HUVEC	blood vessel:	n/a
37	chr7:50861654-50861704	PrEC	prostate:	n/a
38	chr7:50861654-50861704	HepG2	liver:	n/a
39	chr7:50861654-50861704	AG04449	skin:	fetal
40	chr7:50861654-50861704	HCPEpiC	choroid plexus:	n/a
41	chr7:50861654-50861704	NH-A	brain:	n/a
42	chr7:50861654-50861704	SAEC	small airway:	n/a
43	chr7:50861654-50861704	MCF10A-Er-Src	breast:	n/a
44	chr7:50861654-50861704	HRPEpiC	eye:	n/a
45	chr7:50861654-50861704	H1-hESC	embryonic stem cell:	embryo
46	chr7:50861654-50861704	Hela-S3	cervix:	n/a
47	chr7:50861654-50861704	HEK293	kidney:	embryo
48	chr7:50861654-50861704	PANC-1	pancreas:	n/a
49	chr7:50861654-50861704	HRE	kidney:	n/a
50	chr7:50861654-50861704	Jurkat	blood:	n/a

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:50820026..50825124-chr7:50858182..50862797,5	K562	blood:
2	chr7:50823624..50825816-chr7:50859906..50861742,2	K562	blood:
3	chr7:50861450..50863557-chr7:50891977..50893899,2	MCF-7	breast:
4	chr7:50799534..50801547-chr7:50859929..50861719,2	K562	blood:
5	chr7:50814324..50816744-chr7:50859392..50862105,3	K562	blood:

No data

Variant related genes	Relation type
GRB10	TF binding region
GRB10	CpG island
ENSG00000106070	Chromatin interaction

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

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016665	chr7:50452552-51404524	Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv824091	chr7:50828682-50885984	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv538835	chr7:50839656-50867735	Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv824092	chr7:50846084-50865531	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	esv3440721	chr7:50859483-50862031	Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	esv3439656	chr7:50859783-50862481	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS Weak transcription Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	esv3377483	chr7:50859883-50862631	Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:50857200-50861800	Active TSS	Right Atrium	heart
2	chr7:50857400-50861800	Active TSS	Pancreatic Islets	Pancreatic Islet
3	chr7:50858800-50861800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr7:50858800-50861800	Active TSS	Pancreas	Pancrea
5	chr7:50859200-50861800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr7:50859400-50861800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr7:50859400-50861800	Bivalent/Poised TSS	Thymus	Thymus
8	chr7:50859400-50861800	Bivalent/Poised TSS	HepG2	liver
9	chr7:50859400-50861800	Active TSS	HSMM	muscle
10	chr7:50859600-50861800	Active TSS	H9 Cell Line	embryonic stem cell
11	chr7:50859600-50861800	Bivalent/Poised TSS	HMEC	breast
12	chr7:50859800-50861800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr7:50859800-50861800	Active TSS	Breast Myoepithelial Primary Cells	Breast
14	chr7:50859800-50861800	Active TSS	Gastric	stomach
15	chr7:50860000-50861800	Active TSS	Brain Anterior Caudate	brain
16	chr7:50860000-50862200	Bivalent/Poised TSS	NHEK	skin
17	chr7:50860200-50861800	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr7:50860200-50861800	Bivalent/Poised TSS	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr7:50860200-50861800	Active TSS	Liver	Liver
20	chr7:50860200-50861800	Active TSS	Brain Angular Gyrus	brain
21	chr7:50860200-50861800	Active TSS	Osteobl	bone
22	chr7:50860400-50861800	Active TSS	Brain Inferior Temporal Lobe	brain
23	chr7:50860600-50861800	Active TSS	Colonic Mucosa	Colon
24	chr7:50861000-50867400	Weak transcription	Spleen	Spleen
25	chr7:50861400-50861800	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr7:50861400-50861800	Flanking Bivalent TSS/Enh	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr7:50861400-50861800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
28	chr7:50861400-50861800	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr7:50861400-50861800	Flanking Bivalent TSS/Enh	Primary monocytes fromperipheralblood	blood
30	chr7:50861400-50861800	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood
31	chr7:50861400-50861800	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
32	chr7:50861400-50861800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
33	chr7:50861400-50861800	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
34	chr7:50861400-50861800	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
35	chr7:50861400-50861800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr7:50861400-50861800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr7:50861400-50861800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
38	chr7:50861400-50861800	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr7:50861400-50861800	Bivalent/Poised TSS	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr7:50861400-50861800	Flanking Active TSS	Adipose Nuclei	Adipose
41	chr7:50861400-50861800	Active TSS	Brain Cingulate Gyrus	brain
42	chr7:50861400-50861800	Active TSS	Brain Hippocampus Middle	brain
43	chr7:50861400-50861800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
44	chr7:50861400-50861800	Active TSS	Brain Substantia Nigra	brain
45	chr7:50861400-50861800	Active TSS	Duodenum Smooth Muscle	Duodenum
46	chr7:50861400-50861800	Flanking Active TSS	Esophagus	oesophagus
47	chr7:50861400-50861800	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
48	chr7:50861400-50861800	Bivalent Enhancer	Fetal Brain Male	brain
49	chr7:50861400-50861800	Flanking Bivalent TSS/Enh	Fetal Brain Female	brain
50	chr7:50861400-50861800	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links