Variant report

Variant	rs2314649
Chromosome Location	chr2:97533084-97533085
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	POLR2A	chr2:97528950-97536892	K562	blood:	n/a	n/a
2	YY1	chr2:97532715-97533108	H1-hESC	embryonic stem cell:	n/a	chr2:97532841-97532863
3	POLR2A	chr2:97532646-97534782	GM12891	blood:	n/a	n/a
4	POLR2A	chr2:97532256-97533127	SK-N-MC	brain:	n/a	n/a
5	POLR2A	chr2:97532985-97533182	HepG2	liver:	n/a	n/a
6	POLR2A	chr2:97532921-97533120	Hela-S3	cervix:	n/a	n/a
7	SIN3AK20	chr2:97531740-97537442	MCF-7	breast:	n/a	n/a
8	MTA3	chr2:97532680-97535126	GM12878	blood:	n/a	n/a
9	POLR2A	chr2:97531939-97537196	K562	blood:	n/a	n/a
10	MAX	chr2:97533036-97535017	NB4	blood:	n/a	chr2:97533299-97533309 chr2:97534898-97534908
11	POLR2A	chr2:97532075-97533142	GM12878	blood:	n/a	n/a
12	POLR2A	chr2:97532691-97533389	MCF-7	breast:	n/a	n/a
13	POLR2A	chr2:97528920-97537556	K562	blood:	n/a	n/a
14	POLR2A	chr2:97531139-97533441	GM12878	blood:	n/a	n/a
15	POLR2A	chr2:97532619-97533095	GM12892	blood:	n/a	n/a
16	POLR2A	chr2:97531400-97535132	GM12892	blood:	n/a	n/a
17	POLR2A	chr2:97531904-97533165	HepG2	liver:	n/a	n/a
18	MXI1	chr2:97532894-97533102	GM12878	blood:	n/a	n/a
19	POLR2A	chr2:97532187-97533784	K562	blood:	n/a	n/a
20	ZNF263	chr2:97532395-97535700	HEK293-T-REx	kidney:	n/a	chr2:97535020-97535029 chr2:97533774-97533783 chr2:97533857-97533866
21	POLR2A	chr2:97526909-97536686	HepG2	liver:	n/a	n/a
22	POLR2A	chr2:97532582-97533177	H1-hESC	embryonic stem cell:	n/a	n/a
23	POLR2A	chr2:97528940-97537661	K562	blood:	n/a	n/a
24	POLR2A	chr2:97530481-97535177	GM12878	blood:	n/a	n/a
25	MXI1	chr2:97532969-97536993	SK-N-SH	brain:	n/a	chr2:97536650-97536659
26	POLR2A	chr2:97532895-97533127	H1-hESC	embryonic stem cell:	n/a	n/a
27	POLR2A	chr2:97532230-97536091	HepG2	liver:	n/a	n/a
28	POLR2A	chr2:97533045-97533140	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:97481648..97486150-chr2:97531417..97538119,10	MCF-7	breast:
2	chr2:97516728..97547486-chr2:97588377..97628331,265	MCF-7	breast:
3	chr2:97530625..97533961-chr2:97614118..97617148,3	K562	blood:
4	chr2:97531702..97533612-chr2:97560749..97562713,2	K562	blood:
5	chr2:97490772..97492276-chr2:97531801..97534109,2	MCF-7	breast:
6	chr2:97480844..97484629-chr2:97532869..97536982,6	MCF-7	breast:
7	chr2:97426212..97427746-chr2:97532479..97534253,2	MCF-7	breast:

Variant related genes	Relation type
SEMA4C	TF binding region
ENSG00000168754	Chromatin interaction
ENSG00000168763	Chromatin interaction
ENSG00000158158	Chromatin interaction
ENSG00000252845	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs1047634	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11886360	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11892821	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34013660	1.00[EUR][1000 genomes]
rs56129857	1.00[EUR][1000 genomes]
rs57184334	1.00[EUR][1000 genomes]
rs58448521	1.00[EUR][1000 genomes]
rs6576977	1.00[EUR][1000 genomes]
rs6576985	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6576988	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6576991	1.00[EUR][1000 genomes]
rs6707008	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6733535	1.00[EUR][1000 genomes]
rs6733826	1.00[EUR][1000 genomes]
rs6744498	1.00[EUR][1000 genomes]
rs6746421	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6748214	1.00[EUR][1000 genomes]
rs6748234	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6759613	1.00[EUR][1000 genomes]
rs72945119	1.00[EUR][1000 genomes]
rs73960684	1.00[EUR][1000 genomes]
rs7569178	1.00[EUR][1000 genomes]
rs7570831	1.00[EUR][1000 genomes]
rs7580104	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7587149	1.00[EUR][1000 genomes]
rs7593340	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv933671	chr2:96739308-97652262	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
2	nsv1000780	chr2:96740430-97671395	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
3	nsv535826	chr2:96740430-97671395	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
4	nsv874677	chr2:96756547-97717345	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
5	nsv1001204	chr2:96766559-97728507	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
6	nsv535827	chr2:96766559-97728507	Enhancers Active TSS Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
7	nsv874680	chr2:97309574-97678319	Genic enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
8	nsv526313	chr2:97333492-97660619	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
9	nsv874681	chr2:97410949-97577343	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
10	nsv874682	chr2:97423626-97567389	Transcr. at gene 5' and 3' Strong transcription Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 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	chr2:97524200-97533400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr2:97524600-97533400	Genic enhancers	Spleen	Spleen
3	chr2:97524600-97533600	Weak transcription	Psoas Muscle	Psoas
4	chr2:97525000-97533800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr2:97525400-97533600	Weak transcription	Small Intestine	intestine
6	chr2:97525800-97533200	Strong transcription	iPS-15b Cell Line	embryonic stem cell
7	chr2:97525800-97533200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
8	chr2:97525800-97533200	Strong transcription	Aorta	Aorta
9	chr2:97525800-97533400	Strong transcription	H9 Cell Line	embryonic stem cell
10	chr2:97526400-97533200	Strong transcription	HUES6 Cell Line	embryonic stem cell
11	chr2:97526600-97533200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr2:97527000-97533200	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr2:97529000-97534200	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr2:97529000-97534400	Transcr. at gene 5' and 3'	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr2:97529400-97534200	Transcr. at gene 5' and 3'	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr2:97530000-97533200	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr2:97530000-97533200	Genic enhancers	Primary T cells fromperipheralblood	blood
18	chr2:97530000-97533200	Genic enhancers	Left Ventricle	heart
19	chr2:97530000-97533400	Genic enhancers	Gastric	stomach
20	chr2:97530000-97533400	Genic enhancers	Skeletal Muscle Male	skeletal muscle
21	chr2:97530400-97533400	Genic enhancers	Lung	lung
22	chr2:97530600-97533800	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr2:97531000-97533200	Genic enhancers	Fetal Stomach	stomach
24	chr2:97531200-97533400	Genic enhancers	Pancreas	Pancrea
25	chr2:97531200-97533400	Transcr. at gene 5' and 3'	Stomach Smooth Muscle	stomach
26	chr2:97531400-97533200	Genic enhancers	Primary T helper cells fromperipheralblood	blood
27	chr2:97531600-97533200	Genic enhancers	Esophagus	oesophagus
28	chr2:97531600-97533600	Transcr. at gene 5' and 3'	HSMM	muscle
29	chr2:97531600-97533800	Enhancers	Fetal Brain Male	brain
30	chr2:97531800-97533200	Genic enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr2:97531800-97533200	Weak transcription	Fetal Kidney	kidney
32	chr2:97531800-97533400	Enhancers	Right Atrium	heart
33	chr2:97531800-97533800	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
34	chr2:97531800-97533800	Transcr. at gene 5' and 3'	Fetal Adrenal Gland	Adrenal Gland
35	chr2:97532000-97533200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
36	chr2:97532000-97533200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
37	chr2:97532000-97533400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr2:97532000-97533400	Enhancers	Fetal Heart	heart
39	chr2:97532000-97533600	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
40	chr2:97532000-97533600	Transcr. at gene 5' and 3'	Brain Hippocampus Middle	brain
41	chr2:97532000-97534200	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood
42	chr2:97532200-97533200	Genic enhancers	ES-UCSF4 Cell Line	embryonic stem cell
43	chr2:97532200-97533200	Genic enhancers	Placenta Amnion	Placenta Amnion
44	chr2:97532200-97533400	Bivalent Enhancer	Fetal Thymus	thymus
45	chr2:97532200-97533400	Genic enhancers	Skeletal Muscle Female	skeletal muscle
46	chr2:97532200-97533400	Transcr. at gene 5' and 3'	HepG2	liver
47	chr2:97532200-97533600	Enhancers	Primary T helper naive cells from peripheral blood	blood
48	chr2:97532200-97533600	Transcr. at gene 5' and 3'	Rectal Smooth Muscle	rectum
49	chr2:97532200-97534200	Transcr. at gene 5' and 3'	Colon Smooth Muscle	Colon
50	chr2:97532200-97534200	Flanking Active TSS	Duodenum Mucosa	Duodenum

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