Variant report

Variant	rs540710381
Chromosome Location	chr2:114194963-114194964
allele	A/C
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	chr2:114194914-114196358	GM12891	blood:	n/a	n/a
2	TAF1	chr2:114194924-114195929	GM12892	blood:	n/a	n/a
3	GATA2	chr2:114194942-114195627	K562	blood:	n/a	n/a
4	POLR2A	chr2:114194937-114195824	SK-N-MC	brain:	n/a	n/a
5	POLR2A	chr2:114194893-114197476	GM12878	blood:	n/a	n/a
6	IRF4	chr2:114194945-114196429	GM12878	blood:	n/a	n/a
7	SP1	chr2:114194950-114195531	K562	blood:	n/a	chr2:114195256-114195266 chr2:114195256-114195266
8	POU2F2	chr2:114194903-114196412	GM12878	blood:	n/a	chr2:114196386-114196396 chr2:114196386-114196396 chr2:114196379-114196401
9	MYBL2	chr2:114194958-114195990	HepG2	liver:	n/a	n/a
10	SPI1	chr2:114194961-114196292	GM12878	blood:	n/a	n/a
11	POLR2A	chr2:114194945-114196382	GM12892	blood:	n/a	n/a
12	FOSL2	chr2:114194918-114195702	HepG2	liver:	n/a	chr2:114195066-114195080 chr2:114195335-114195344
13	POLR2A	chr2:114194953-114196326	GM12891	blood:	n/a	n/a
14	PAX5	chr2:114194955-114196301	GM12878	blood:	n/a	n/a
15	FOSL2	chr2:114194897-114196353	HepG2	liver:	n/a	chr2:114195066-114195080 chr2:114195732-114195741 chr2:114195335-114195344
16	PAX5	chr2:114194891-114196379	GM12878	blood:	n/a	n/a
17	PAX5	chr2:114194958-114196291	GM12878	blood:	n/a	n/a
18	BCL11A	chr2:114194953-114196275	GM12878	blood:	n/a	n/a
19	SP1	chr2:114194952-114195857	A549	lung:	n/a	chr2:114195256-114195266 chr2:114195256-114195266 chr2:114195723-114195732
20	POLR2A	chr2:114194882-114197436	H1-hESC	embryonic stem cell:	n/a	n/a
21	POLR2A	chr2:114194932-114197522	GM12878	blood:	n/a	n/a
22	HEY1	chr2:114194923-114197489	HepG2	liver:	n/a	chr2:114195334-114195343 chr2:114195336-114195345
23	EBF1	chr2:114194945-114195901	GM12878	blood:	n/a	chr2:114195250-114195259 chr2:114195250-114195259
24	POLR2A	chr2:114194910-114196493	GM12892	blood:	n/a	n/a
25	TAF1	chr2:114194945-114195833	GM12878	blood:	n/a	n/a
26	ESR1	chr2:114194771-114195542	T-47D	breast:	n/a	chr2:114195053-114195070
27	SP1	chr2:114194913-114195713	A549	lung:	n/a	chr2:114195256-114195266 chr2:114195256-114195266
28	SP1	chr2:114194896-114196340	GM12878	blood:	n/a	chr2:114195256-114195266 chr2:114195256-114195266 chr2:114195723-114195732
29	POU2F2	chr2:114194942-114196334	GM12891	blood:	n/a	n/a
30	POLR2A	chr2:114194906-114196356	GM12892	blood:	n/a	n/a
31	JUND	chr2:114194958-114195806	HepG2	liver:	n/a	chr2:114195066-114195080 chr2:114195732-114195741 chr2:114195335-114195344
32	POLR2A	chr2:114194941-114196368	Hela-S3	cervix:	n/a	n/a
33	BATF	chr2:114194949-114195748	GM12878	blood:	n/a	chr2:114195333-114195346
34	TAF1	chr2:114194946-114196224	H1-hESC	embryonic stem cell:	n/a	n/a
35	TAF1	chr2:114194952-114196073	GM12878	blood:	n/a	n/a
36	POLR2A	chr2:114194910-114196410	GM12892	blood:	n/a	n/a
37	EP300	chr2:114194942-114195844	GM12878	blood:	n/a	n/a
38	USF1	chr2:114194896-114196383	A549	lung:	n/a	chr2:114196018-114196029
39	ZBTB33	chr2:114194935-114195748	HepG2	liver:	n/a	n/a
40	ESR1	chr2:114194856-114195551	T-47D	breast:	n/a	chr2:114195053-114195070
41	IRF4	chr2:114194953-114196452	GM12878	blood:	n/a	n/a
42	SP1	chr2:114194869-114196444	GM12878	blood:	n/a	chr2:114195256-114195266 chr2:114195256-114195266 chr2:114195723-114195732
43	TAF1	chr2:114194963-114195960	GM12892	blood:	n/a	n/a
44	POLR2A	chr2:114194962-114196375	GM12891	blood:	n/a	n/a

Variant related genes	Relation type
CBWD2	TF binding region

Extended variants
information (count: 10 )
Associated
traits (count: 0)

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	esv2757826	chr2:114074949-114253780	Enhancers Strong transcription Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS 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	10 gene(s)	inside rSNPs	diseases
2	esv2759085	chr2:114074949-114428678	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	33 gene(s)	inside rSNPs	diseases
3	nsv1002255	chr2:114120037-114236620	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	esv18442	chr2:114167656-114267309	Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Enhancers Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island lncRNA	8 gene(s)	inside rSNPs	diseases
5	esv1802875	chr2:114167899-114317895	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
6	nsv10130	chr2:114171428-114254459	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv834334	chr2:114175740-114338827	Bivalent/Poised TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
8	nsv874902	chr2:114179202-114300577	Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
9	nsv979105	chr2:114192364-114228793	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island lncRNA	2 gene(s)	inside rSNPs	diseases
10	nsv961492	chr2:114192364-114236951	Active TSS Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:114191200-114195000	Weak transcription	Primary B cells from cord blood	blood
2	chr2:114191200-114195000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr2:114191400-114195400	Weak transcription	GM12878-XiMat	blood
4	chr2:114194200-114195000	Enhancers	Primary neutrophils fromperipheralblood	blood
5	chr2:114194200-114195000	Enhancers	Monocytes-CD14+_RO01746	blood
6	chr2:114194600-114195000	Enhancers	Primary monocytes fromperipheralblood	blood
7	chr2:114194600-114195000	Enhancers	Primary B cells from peripheral blood	blood
8	chr2:114194600-114195000	Enhancers	Primary T cells fromperipheralblood	blood
9	chr2:114194600-114195000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
10	chr2:114194600-114195000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr2:114194600-114195000	Enhancers	Dnd41	blood
12	chr2:114194600-114195000	Enhancers	HUVEC	blood vessel
13	chr2:114194600-114195400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr2:114194800-114195800	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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