Variant report

Variant	rs371500664
Chromosome Location	chr2:181844530-181844531
allele	C/T
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	HEY1	chr2:181844157-181845616	HepG2	liver:	n/a	chr2:181845368-181845383 chr2:181845366-181845381 chr2:181845501-181845516
2	BCL3	chr2:181844341-181844645	GM12878	blood:	n/a	n/a
3	POLR2A	chr2:181843861-181845587	PBDE	blood:	n/a	n/a
4	POLR2A	chr2:181844264-181846086	K562	blood:	n/a	n/a
5	POLR2A	chr2:181844170-181846127	MCF10A-Er-Src	breast:	n/a	n/a
6	POLR2A	chr2:181844225-181846430	K562	blood:	n/a	n/a
7	POLR2A	chr2:181844265-181845573	K562	blood:	n/a	n/a
8	MYC	chr2:181844370-181846598	K562	blood:	n/a	chr2:181845600-181845610
9	POLR2A	chr2:181844329-181846225	K562	blood:	n/a	n/a
10	POLR2A	chr2:181843951-181845618	K562	blood:	n/a	n/a
11	E2F6	chr2:181844527-181845242	H1-hESC	embryonic stem cell:	n/a	chr2:181844871-181844880 chr2:181845218-181845230 chr2:181845068-181845077
12	MYBL2	chr2:181843971-181844587	HepG2	liver:	n/a	n/a
13	CBX3	chr2:181844245-181845648	K562	blood:	n/a	n/a
14	ZMIZ1	chr2:181844172-181845575	K562	blood:	n/a	n/a
15	EP300	chr2:181844056-181844608	HepG2	liver:	n/a	n/a
16	FOXA1	chr2:181844126-181844549	HepG2	liver:	n/a	n/a
17	TBP	chr2:181844268-181846707	K562	blood:	n/a	n/a
18	POLR2A	chr2:181844211-181846233	K562	blood:	n/a	n/a
19	JUND	chr2:181844104-181844542	H1-hESC	embryonic stem cell:	n/a	n/a
20	HCFC1	chr2:181844495-181845610	K562	blood:	n/a	n/a
21	CTCF	chr2:181844058-181845743	A549	lung:	n/a	chr2:181845349-181845362 chr2:181845489-181845507 chr2:181845491-181845504 chr2:181845109-181845122
22	RCOR1	chr2:181843843-181846916	K562	blood:	n/a	n/a
23	MAZ	chr2:181844345-181846602	K562	blood:	n/a	chr2:181845600-181845610
24	MAX	chr2:181844139-181846402	HepG2	liver:	n/a	chr2:181845600-181845610
25	TBL1XR1	chr2:181843920-181845602	K562	blood:	n/a	n/a
26	MBD4	chr2:181844191-181844754	HepG2	liver:	n/a	n/a
27	JUND	chr2:181843918-181845647	K562	blood:	n/a	n/a
28	MAX	chr2:181844056-181845703	HepG2	liver:	n/a	chr2:181845600-181845610
29	MYBL2	chr2:181844154-181845587	HepG2	liver:	n/a	n/a
30	CUX1	chr2:181844300-181844815	K562	blood:	n/a	n/a
31	POLR2A	chr2:181844087-181845607	MCF10A-Er-Src	breast:	n/a	n/a
32	POLR2A	chr2:181844158-181845698	H1-hESC	embryonic stem cell:	n/a	n/a
33	POLR2A	chr2:181843714-181845615	K562	blood:	n/a	n/a
34	TBP	chr2:181844280-181845528	HepG2	liver:	n/a	n/a
35	RELA	chr2:181844521-181845578	GM19099	blood:	n/a	n/a
36	POLR2A	chr2:181844176-181846544	IMR90	lung:	n/a	n/a
37	POLR2A	chr2:181844256-181845573	HepG2	liver:	n/a	n/a
38	HA-E2F1	chr2:181844476-181845590	MCF-7	breast:	n/a	chr2:181844871-181844880 chr2:181845218-181845230 chr2:181845068-181845077 chr2:181845371-181845381 chr2:181845374-181845384 chr2:181845105-181845116
39	MAX	chr2:181844499-181845750	A549	lung:	n/a	chr2:181845600-181845610
40	POLR2A	chr2:181844159-181845628	HepG2	liver:	n/a	n/a
41	FOS	chr2:181844423-181844590	MCF10A-Er-Src	breast:	n/a	n/a
42	GATA1	chr2:181844398-181845476	PBDE	blood:	n/a	chr2:181844427-181844435 chr2:181844775-181844785
43	MAZ	chr2:181844300-181846405	HepG2	liver:	n/a	chr2:181845600-181845610
44	POLR2A	chr2:181844413-181844582	K562	blood:	n/a	n/a
45	RAD21	chr2:181843929-181845763	SK-N-SH	brain:	n/a	chr2:181845110-181845123
46	EP300	chr2:181844449-181844532	GM12878	blood:	n/a	n/a
47	ZNF143	chr2:181844435-181845647	K562	blood:	n/a	chr2:181845367-181845377 chr2:181844749-181844767
48	MYC	chr2:181844261-181846576	K562	blood:	n/a	chr2:181845600-181845610
49	RELA	chr2:181844315-181845576	GM12891	blood:	n/a	n/a
50	CTCF	chr2:181844420-181844570	HRE	kidney:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:181829069..181832020-chr2:181844085..181846532,2	MCF-7	breast:

Variant related genes	Relation type
UBE2E3	TF binding region
ENSG00000170035	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	nsv875476	chr2:181767757-181854997	Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	n/a
2	esv3439536	chr2:181844232-181847280	Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:181843400-181844600	Enhancers	Brain Substantia Nigra	brain
2	chr2:181843600-181844600	Enhancers	H9 Cell Line	embryonic stem cell
3	chr2:181843600-181844600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr2:181843600-181844600	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr2:181843800-181844600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr2:181843800-181844600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr2:181843800-181844600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr2:181843800-181844600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr2:181843800-181844600	Enhancers	Brain Cingulate Gyrus	brain
10	chr2:181843800-181844600	Enhancers	Fetal Muscle Leg	muscle
11	chr2:181843800-181848600	Active TSS	Brain Inferior Temporal Lobe	brain
12	chr2:181843800-181849200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr2:181844000-181844600	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
14	chr2:181844000-181844600	Enhancers	Fetal Brain Female	brain
15	chr2:181844000-181844600	Enhancers	Fetal Stomach	stomach
16	chr2:181844000-181844800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
17	chr2:181844000-181844800	Enhancers	Fetal Heart	heart
18	chr2:181844000-181844800	Flanking Active TSS	K562	blood
19	chr2:181844000-181845200	Active TSS	ES-I3 Cell Line	embryonic stem cell
20	chr2:181844000-181845200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr2:181844000-181847400	Active TSS	Stomach Smooth Muscle	stomach
22	chr2:181844200-181844600	Enhancers	Primary T cells fromperipheralblood	blood
23	chr2:181844200-181844600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
24	chr2:181844200-181844600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
25	chr2:181844200-181844600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
26	chr2:181844200-181844600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr2:181844200-181844600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr2:181844200-181844600	Flanking Active TSS	Brain Hippocampus Middle	brain
29	chr2:181844200-181844600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
30	chr2:181844200-181844600	Enhancers	Placenta	Placenta
31	chr2:181844200-181844600	Enhancers	Psoas Muscle	Psoas
32	chr2:181844200-181844600	Enhancers	Right Ventricle	heart
33	chr2:181844200-181844600	Flanking Active TSS	HepG2	liver
34	chr2:181844200-181844600	Enhancers	NHEK	skin
35	chr2:181844200-181844800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr2:181844200-181844800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr2:181844200-181844800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr2:181844200-181844800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
39	chr2:181844200-181844800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr2:181844200-181844800	Flanking Active TSS	Colon Smooth Muscle	Colon
41	chr2:181844200-181844800	Flanking Active TSS	Duodenum Mucosa	Duodenum
42	chr2:181844200-181844800	Flanking Active TSS	NHLF	lung
43	chr2:181844200-181845000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
44	chr2:181844200-181845000	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr2:181844200-181845000	Flanking Active TSS	Primary hematopoietic stem cells	blood
46	chr2:181844200-181845000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr2:181844200-181845000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr2:181844200-181845000	Flanking Active TSS	Osteobl	bone
49	chr2:181844200-181847000	Active TSS	Pancreatic Islets	Pancreatic Islet
50	chr2:181844400-181844600	Enhancers	H1 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links