Variant report

Variant	rs563920867
Chromosome Location	chr7:65441959-65441960
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:34)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:34 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr7:65441804-65442049	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr7:65441745-65442478	GM12892	blood:	n/a	n/a
3	POLR2A	chr7:65441589-65442684	GM12892	blood:	n/a	n/a
4	POLR2A	chr7:65441744-65442086	ECC-1	luminal epithelium:	n/a	n/a
5	POLR2A	chr7:65441851-65442651	PFSK-1	brain:	n/a	n/a
6	POLR2A	chr7:65441587-65442508	GM12891	blood:	n/a	n/a
7	POLR2A	chr7:65441814-65442108	H1-hESC	embryonic stem cell:	n/a	n/a
8	POLR2A	chr7:65440839-65442526	K562	blood:	n/a	n/a
9	POLR2A	chr7:65441589-65442492	GM12892	blood:	n/a	n/a
10	POLR2A	chr7:65441625-65442234	HepG2	liver:	n/a	n/a
11	POLR2A	chr7:65439020-65442497	K562	blood:	n/a	n/a
12	POLR2A	chr7:65441609-65442468	GM12878	blood:	n/a	n/a
13	POLR2A	chr7:65440815-65442524	K562	blood:	n/a	n/a
14	POLR2A	chr7:65441877-65442338	Hela-S3	cervix:	n/a	n/a
15	POLR2A	chr7:65441958-65442012	Hela-S3	cervix:	n/a	n/a
16	POLR2A	chr7:65441718-65442078	GM12878	blood:	n/a	n/a
17	POLR2A	chr7:65441731-65442257	H1-hESC	embryonic stem cell:	n/a	n/a
18	POLR2A	chr7:65441608-65442524	GM12892	blood:	n/a	n/a
19	POLR2A	chr7:65441695-65442386	HL-60	blood:	n/a	n/a
20	POLR2A	chr7:65441806-65442096	GM12878	blood:	n/a	n/a
21	POLR2A	chr7:65441905-65441975	MCF-7	breast:	n/a	n/a
22	POLR2A	chr7:65441772-65442513	Hela-S3	cervix:	n/a	n/a
23	POU2F2	chr7:65441958-65442349	GM12891	blood:	n/a	n/a
24	POLR2A	chr7:65441879-65442112	MCF-7	breast:	n/a	n/a
25	POLR2A	chr7:65441536-65442265	SK-N-MC	brain:	n/a	n/a
26	POLR2A	chr7:65441764-65442239	HL-60	blood:	n/a	n/a
27	POLR2A	chr7:65441666-65442473	K562	blood:	n/a	n/a
28	POLR2A	chr7:65441841-65442084	GM12891	blood:	n/a	n/a
29	POLR2A	chr7:65441715-65442421	GM12891	blood:	n/a	n/a
30	POLR2A	chr7:65441758-65442106	H1-hESC	embryonic stem cell:	n/a	n/a
31	POLR2A	chr7:65440766-65442500	K562	blood:	n/a	n/a
32	POLR2A	chr7:65441611-65442196	GM12891	blood:	n/a	n/a
33	POLR2A	chr7:65441510-65442822	K562	blood:	n/a	n/a
34	POLR2A	chr7:65441572-65442374	H1-hESC	embryonic stem cell:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:65439784..65442429-chr7:65442521..65444614,2	MCF-7	breast:
2	chr7:65441240..65443607-chr7:65444690..65447035,2	MCF-7	breast:

No data

Variant related genes	Relation type
GUSB	TF binding region
ENSG00000169919	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2761079	chr7:65092426-65689733	Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers Strong transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
2	nsv1020337	chr7:65371505-65449654	Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv532124	chr7:65371521-66234730	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	125 gene(s)	inside rSNPs	diseases
4	nsv1025494	chr7:65402301-65515606	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv538906	chr7:65402301-65515606	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
6	nsv888321	chr7:65408904-65449541	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
7	esv9823	chr7:65413362-65468020	Strong transcription Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
8	esv3426468	chr7:65413488-65462982	Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
9	esv3433491	chr7:65414034-65463477	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
10	nsv1028971	chr7:65414064-65457437	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
11	nsv888322	chr7:65415647-65466565	Enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
12	nsv538907	chr7:65417400-65456089	Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
13	nsv888323	chr7:65418355-65461080	ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
14	nsv888324	chr7:65418876-65466565	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
15	nsv981505	chr7:65428348-65445874	Genic enhancers Transcr. at gene 5' and 3' Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
16	nsv971390	chr7:65441078-65445874	Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Weak transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:65417800-65445400	Weak transcription	Fetal Heart	heart
2	chr7:65418000-65445400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
3	chr7:65418400-65442400	Strong transcription	Adipose Nuclei	Adipose
4	chr7:65418400-65445200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr7:65418800-65442400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr7:65418800-65444000	Strong transcription	Dnd41	blood
7	chr7:65418800-65445200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr7:65418800-65445400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr7:65418800-65445600	Strong transcription	HUES64 Cell Line	embryonic stem cell
10	chr7:65418800-65446000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr7:65419000-65442400	Strong transcription	HUES48 Cell Line	embryonic stem cell
12	chr7:65419000-65442400	Strong transcription	Primary T cells fromperipheralblood	blood
13	chr7:65419000-65442600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr7:65419000-65445200	Strong transcription	Fetal Muscle Trunk	muscle
15	chr7:65419000-65445400	Strong transcription	Fetal Thymus	thymus
16	chr7:65419000-65445400	Strong transcription	Thymus	Thymus
17	chr7:65419200-65445200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr7:65419400-65445200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
19	chr7:65419600-65442400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
20	chr7:65419600-65444800	Strong transcription	Primary monocytes fromperipheralblood	blood
21	chr7:65419800-65445400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr7:65420200-65445200	Strong transcription	Cortex derived primary cultured neurospheres	brain
23	chr7:65420400-65442200	Strong transcription	Primary neutrophils fromperipheralblood	blood
24	chr7:65420600-65442400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr7:65420600-65442400	Strong transcription	Fetal Brain Female	brain
26	chr7:65422400-65444800	Strong transcription	Brain Germinal Matrix	brain
27	chr7:65422400-65445600	Weak transcription	Right Atrium	heart
28	chr7:65422600-65442400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr7:65423000-65442400	Strong transcription	HUES6 Cell Line	embryonic stem cell
30	chr7:65423000-65442400	Strong transcription	Stomach Smooth Muscle	stomach
31	chr7:65423000-65444800	Strong transcription	Monocytes-CD14+_RO01746	blood
32	chr7:65423000-65445600	Strong transcription	Fetal Intestine Large	intestine
33	chr7:65423200-65442400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr7:65423400-65442200	Strong transcription	Primary T helper cells PMA-I stimulated	--
35	chr7:65423400-65442400	Strong transcription	Rectal Mucosa Donor 29	rectum
36	chr7:65423600-65442200	Strong transcription	Duodenum Mucosa	Duodenum
37	chr7:65423600-65442400	Strong transcription	Right Ventricle	heart
38	chr7:65423600-65445000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr7:65423600-65445400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr7:65423600-65445400	Strong transcription	Fetal Muscle Leg	muscle
41	chr7:65423800-65442400	Strong transcription	H1 Cell Line	embryonic stem cell
42	chr7:65423800-65442400	Strong transcription	Left Ventricle	heart
43	chr7:65423800-65445400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr7:65424000-65442400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr7:65424000-65444400	Strong transcription	Fetal Stomach	stomach
46	chr7:65424000-65445400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr7:65424000-65445600	Strong transcription	Fetal Intestine Small	intestine
48	chr7:65424000-65445800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr7:65424400-65442400	Strong transcription	Placenta	Placenta
50	chr7:65424400-65442400	Strong transcription	Skeletal Muscle Female	skeletal muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links