Variant report

Variant	rs3615
Chromosome Location	chr5:179046258-179046259
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:61)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr5:179046053-179046614	HUVEC	blood vessel:	n/a	n/a
2	POLR2A	chr5:179045510-179046526	SK-N-SH	brain:	n/a	n/a
3	POLR2A	chr5:179041511-179046664	H1-hESC	embryonic stem cell:	n/a	n/a
4	POLR2A	chr5:179032268-179046451	HepG2	liver:	n/a	n/a
5	POLR2A	chr5:179046229-179046278	K562	blood:	n/a	n/a
6	POLR2A	chr5:179042826-179046520	HepG2	liver:	n/a	n/a
7	POLR2A	chr5:179046108-179046441	GM12891	blood:	n/a	n/a
8	POLR2A	chr5:179046257-179046466	GM12878	blood:	n/a	n/a
9	POLR2A	chr5:179046195-179046410	H1-hESC	embryonic stem cell:	n/a	n/a
10	SP1	chr5:179046096-179046546	H1-hESC	embryonic stem cell:	n/a	n/a
11	POLR2A	chr5:179045898-179046582	PANC-1	pancreas:	n/a	n/a
12	POLR2A	chr5:179043857-179046487	GM12878	blood:	n/a	n/a
13	POLR2A	chr5:179046001-179046487	H1-hESC	embryonic stem cell:	n/a	n/a
14	MBD4	chr5:179045844-179046540	HepG2	liver:	n/a	n/a
15	ZNF274	chr5:179045987-179046404	K562	blood:	n/a	n/a
16	POLR2A	chr5:179046159-179046510	HUVEC	blood vessel:	n/a	n/a
17	POLR2A	chr5:179045967-179046531	GM12892	blood:	n/a	n/a
18	POLR2A	chr5:179043926-179046411	HepG2	liver:	n/a	n/a
19	TBL1XR1	chr5:179046011-179046485	K562	blood:	n/a	n/a
20	POLR2A	chr5:179045422-179046581	GM12878	blood:	n/a	n/a
21	POLR2A	chr5:179046093-179046521	GM12891	blood:	n/a	n/a
22	POLR2A	chr5:179046057-179046573	U87	brain:	n/a	n/a
23	POLR2A	chr5:179046220-179046302	H1-hESC	embryonic stem cell:	n/a	n/a
24	POLR2A	chr5:179046196-179046552	ECC-1	luminal epithelium:	n/a	n/a
25	POLR2A	chr5:179043797-179046611	GM12878	blood:	n/a	n/a
26	POLR2A	chr5:179046189-179046559	MCF10A-Er-Src	breast:	n/a	n/a
27	POLR2A	chr5:179046171-179046441	K562	blood:	n/a	n/a
28	STAT3	chr5:179046043-179046678	MCF10A-Er-Src	breast:	n/a	n/a
29	POLR2A	chr5:179039431-179049902	HepG2	liver:	n/a	n/a
30	POLR2A	chr5:179045482-179046538	GM12892	blood:	n/a	n/a
31	POLR2A	chr5:179046015-179046485	H1-hESC	embryonic stem cell:	n/a	n/a
32	HEY1	chr5:179046014-179046489	HepG2	liver:	n/a	n/a
33	POLR2A	chr5:179041696-179046640	K562	blood:	n/a	n/a
34	POLR2A	chr5:179046229-179046505	Hela-S3	cervix:	n/a	n/a
35	MBD4	chr5:179046141-179046610	HepG2	liver:	n/a	n/a
36	POLR2A	chr5:179046023-179046429	A549	lung:	n/a	n/a
37	POLR2A	chr5:179046123-179046380	GM12891	blood:	n/a	n/a
38	HEY1	chr5:179046006-179046498	K562	blood:	n/a	n/a
39	POLR2A	chr5:179046078-179049406	GM12878	blood:	n/a	n/a
40	POLR2A	chr5:179042778-179046466	K562	blood:	n/a	n/a
41	POLR2A	chr5:179044291-179046579	U87	brain:	n/a	n/a
42	POLR2A	chr5:179046006-179046296	ProgFib	skin:	n/a	n/a
43	POLR2A	chr5:179046185-179046881	K562	blood:	n/a	n/a
44	POLR2A	chr5:179036095-179046498	GM12891	blood:	n/a	n/a
45	ZNF263	chr5:179046159-179046564	HEK293-T-REx	kidney:	n/a	chr5:179046342-179046363
46	POLR2A	chr5:179046159-179046438	SK-N-SH	brain:	n/a	n/a
47	POLR2A	chr5:179045466-179046487	GM12892	blood:	n/a	n/a
48	POLR2A	chr5:179045923-179046550	Hela-S3	cervix:	n/a	n/a
49	POLR2A	chr5:179043848-179051855	MCF-7	breast:	n/a	n/a
50	POLR2A	chr5:179046258-179046437	GM12878	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:179045239..179052804-chr5:179123707..179130726,40	K562	blood:

No data

Variant related genes	Relation type
HNRNPH1	TF binding region
ENSG00000127022	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2829850	chr5:178828854-179060995	Strong transcription Active TSS Enhancers Genic enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	122 gene(s)	inside rSNPs	diseases
2	nsv949554	chr5:178832325-179309513	Transcr. at gene 5' and 3' Weak transcription Strong transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	312 gene(s)	inside rSNPs	diseases
3	nsv883270	chr5:178951106-179350387	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	312 gene(s)	inside rSNPs	diseases
4	nsv830560	chr5:179039212-179175758	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	132 gene(s)	inside rSNPs	diseases
5	nsv883273	chr5:179045142-179086833	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	103 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	chr5:179012600-179047000	Strong transcription	H1 Cell Line	embryonic stem cell
2	chr5:179032200-179046400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
3	chr5:179032400-179047400	Strong transcription	H9 Cell Line	embryonic stem cell
4	chr5:179034200-179046600	Strong transcription	Colonic Mucosa	Colon
5	chr5:179037600-179046400	Strong transcription	Spleen	Spleen
6	chr5:179039800-179046800	Strong transcription	HUES6 Cell Line	embryonic stem cell
7	chr5:179041000-179047400	Genic enhancers	Primary T killer naive cells fromperipheralblood	blood
8	chr5:179041000-179047400	Strong transcription	Fetal Muscle Trunk	muscle
9	chr5:179041200-179048600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr5:179042200-179046400	Strong transcription	Esophagus	oesophagus
11	chr5:179043000-179047000	Genic enhancers	Primary T killer memory cells from peripheral blood	blood
12	chr5:179044400-179046600	Genic enhancers	Left Ventricle	heart
13	chr5:179044400-179049400	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
14	chr5:179044400-179049800	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr5:179044400-179050600	Transcr. at gene 5' and 3'	Dnd41	blood
16	chr5:179044600-179046600	Genic enhancers	Small Intestine	intestine
17	chr5:179044600-179049800	Transcr. at gene 5' and 3'	A549	lung
18	chr5:179044800-179046600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr5:179044800-179049400	Transcr. at gene 5' and 3'	K562	blood
20	chr5:179044800-179049800	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
21	chr5:179044800-179049800	Transcr. at gene 5' and 3'	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr5:179045000-179046400	Genic enhancers	Pancreas	Pancrea
23	chr5:179045000-179046600	Transcr. at gene 5' and 3'	Breast Myoepithelial Primary Cells	Breast
24	chr5:179045000-179046600	Genic enhancers	Placenta Amnion	Placenta Amnion
25	chr5:179045000-179047000	Genic enhancers	Brain Cingulate Gyrus	brain
26	chr5:179045000-179047400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr5:179045000-179047400	Genic enhancers	Brain Substantia Nigra	brain
28	chr5:179045000-179051200	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
29	chr5:179045200-179046800	Enhancers	Fetal Heart	heart
30	chr5:179045200-179049200	Transcr. at gene 5' and 3'	Fetal Brain Female	brain
31	chr5:179045200-179049400	Transcr. at gene 5' and 3'	HUVEC	blood vessel
32	chr5:179045400-179046400	Weak transcription	Aorta	Aorta
33	chr5:179045400-179046400	Strong transcription	Gastric	stomach
34	chr5:179045400-179047000	Genic enhancers	Placenta	Placenta
35	chr5:179045400-179047400	Weak transcription	Lung	lung
36	chr5:179045400-179047800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr5:179045400-179048800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr5:179045600-179046400	Genic enhancers	Stomach Mucosa	stomach
39	chr5:179045600-179046600	Genic enhancers	Primary hematopoietic stem cells	blood
40	chr5:179045600-179046600	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr5:179045600-179046600	Transcr. at gene 5' and 3'	Brain Germinal Matrix	brain
42	chr5:179045600-179047000	Genic enhancers	ES-UCSF4 Cell Line	embryonic stem cell
43	chr5:179045600-179048600	Active TSS	Right Atrium	heart
44	chr5:179045600-179049000	Transcr. at gene 5' and 3'	Primary T cells from cord blood	blood
45	chr5:179045600-179049000	Transcr. at gene 5' and 3'	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr5:179045600-179049000	Transcr. at gene 5' and 3'	Duodenum Mucosa	Duodenum
47	chr5:179045600-179049000	Transcr. at gene 5' and 3'	Duodenum Smooth Muscle	Duodenum
48	chr5:179045600-179049400	Transcr. at gene 5' and 3'	Hela-S3	cervix
49	chr5:179045600-179049400	Transcr. at gene 5' and 3'	NH-A	brain
50	chr5:179045600-179049400	Transcr. at gene 5' and 3'	Osteobl	bone

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links