Variant report

Variant	rs530315711
Chromosome Location	chr10:42649043-42649044
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	TCF12	chr10:42648714-42649100	GM12878	blood:	n/a	n/a
2	GATA2	chr10:42648818-42649257	K562	blood:	n/a	n/a
3	BATF	chr10:42648769-42649302	GM12878	blood:	n/a	n/a
4	BATF	chr10:42648710-42649578	GM12878	blood:	n/a	n/a
5	EP300	chr10:42648098-42649428	GM12878	blood:	n/a	n/a
6	ZBTB33	chr10:42648125-42649624	HepG2	liver:	n/a	n/a
7	SP1	chr10:42648143-42650993	GM12878	blood:	n/a	chr10:42650169-42650176
8	ZBTB33	chr10:42648123-42649364	GM12878	blood:	n/a	n/a
9	POLR2A	chr10:42648764-42649146	GM12878	blood:	n/a	n/a
10	POU2F2	chr10:42648081-42649704	GM12878	blood:	n/a	chr10:42649339-42649349
11	HEY1	chr10:42648086-42649251	K562	blood:	n/a	n/a
12	PAX5	chr10:42648706-42649279	GM12878	blood:	n/a	n/a
13	ZBTB33	chr10:42648113-42649443	GM12878	blood:	n/a	n/a
14	SIX5	chr10:42648111-42649575	K562	blood:	n/a	chr10:42649296-42649310
15	POLR2A	chr10:42649027-42649292	Hela-S3	cervix:	n/a	n/a
16	SP1	chr10:42648790-42649389	GM12878	blood:	n/a	n/a
17	EP300	chr10:42648764-42649350	GM12878	blood:	n/a	n/a
18	TAF1	chr10:42648688-42649356	Hela-S3	cervix:	n/a	n/a
19	JUND	chr10:42648678-42649377	HepG2	liver:	n/a	n/a
20	USF1	chr10:42648973-42649296	HepG2	liver:	n/a	n/a
21	PAX5	chr10:42648099-42649471	GM12878	blood:	n/a	n/a
22	POLR2A	chr10:42648646-42649183	H1-hESC	embryonic stem cell:	n/a	n/a
23	RXRA	chr10:42648114-42649786	HepG2	liver:	n/a	n/a
24	FOSL2	chr10:42648124-42649334	HepG2	liver:	n/a	chr10:42648422-42648434
25	FOSL2	chr10:42648103-42649443	HepG2	liver:	n/a	chr10:42648422-42648434
26	BCL11A	chr10:42648740-42649373	GM12878	blood:	n/a	n/a
27	SIN3AK20	chr10:42648415-42649566	HepG2	liver:	n/a	n/a
28	ZBTB33	chr10:42648723-42649339	HepG2	liver:	n/a	n/a
29	SIX5	chr10:42648108-42649597	K562	blood:	n/a	chr10:42649296-42649310
30	RXRA	chr10:42648953-42649418	HepG2	liver:	n/a	n/a
31	SIN3AK20	chr10:42648751-42649272	HepG2	liver:	n/a	n/a
32	TCF12	chr10:42648700-42649341	GM12878	blood:	n/a	chr10:42649328-42649335
33	USF1	chr10:42648410-42649250	GM12878	blood:	n/a	n/a
34	SIX5	chr10:42648815-42649856	GM12878	blood:	n/a	chr10:42649296-42649310
35	EBF1	chr10:42648616-42649692	GM12878	blood:	n/a	n/a
36	GABPA	chr10:42648113-42649577	Hela-S3	cervix:	n/a	n/a
37	ZBTB33	chr10:42648107-42649423	K562	blood:	n/a	n/a
38	SPI1	chr10:42648624-42649347	GM12878	blood:	n/a	n/a
39	TCF3	chr10:42648749-42649662	GM12878	blood:	n/a	n/a
40	PAX5	chr10:42648794-42649093	GM12878	blood:	n/a	n/a
41	IRF4	chr10:42648092-42649524	GM12878	blood:	n/a	n/a
42	BCL11A	chr10:42648959-42649302	GM12878	blood:	n/a	n/a
43	PBX3	chr10:42649023-42649348	GM12878	blood:	n/a	n/a
44	SP1	chr10:42648070-42649674	HepG2	liver:	n/a	n/a
45	PBX3	chr10:42648750-42649094	GM12878	blood:	n/a	n/a
46	PAX5	chr10:42648664-42649105	GM12878	blood:	n/a	n/a
47	IRF4	chr10:42648648-42649443	GM12878	blood:	n/a	n/a
48	USF1	chr10:42648637-42649300	HepG2	liver:	n/a	n/a
49	FOXA1	chr10:42648061-42649396	HepG2	liver:	n/a	n/a
50	ZBTB33	chr10:42648087-42649677	K562	blood:	n/a	n/a

Variant related genes	Relation type
KSR1P1	TF binding region

Extended variants
information (count: 39 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:39 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3381019	chr10:42379843-42797311	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	esv3327265	chr10:42383108-42800080	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	esv3353947	chr10:42396093-42662055	ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	esv3410118	chr10:42399439-42817641	ZNF genes & repeats Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv1050409	chr10:42433540-42690550	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv1041974	chr10:42433540-42760904	Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
7	nsv1052577	chr10:42433540-42827991	ZNF genes & repeats Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
8	nsv1036341	chr10:42433540-42853111	ZNF genes & repeats Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
9	nsv1036366	chr10:42433540-42853690	ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
10	esv2757380	chr10:42433540-42929116	ZNF genes & repeats Active TSS Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
11	esv2759745	chr10:42433540-42929116	Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
12	nsv1042307	chr10:42477859-42655660	Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
13	nsv1049608	chr10:42525112-42820273	Flanking Bivalent TSS/Enh ZNF genes & repeats Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
14	nsv550616	chr10:42533318-42667035	Weak transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
15	nsv550625	chr10:42596844-42820806	ZNF genes & repeats Enhancers Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
16	esv3507249	chr10:42599639-42663426	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Enhancers	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases
17	esv3507250	chr10:42599639-42663426	ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription Enhancers	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases
18	nsv947871	chr10:42603321-42676682	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Active TSS Enhancers Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
19	nsv817455	chr10:42607635-43151812	Active TSS Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
20	nsv917936	chr10:42614423-42853111	ZNF genes & repeats Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
21	nsv1047813	chr10:42614424-42760904	Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
22	nsv1038298	chr10:42614424-42767631	Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
23	nsv1049686	chr10:42614424-42783482	Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
24	nsv1047909	chr10:42614424-42790016	Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Enhancers Bivalent Enhancer Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
25	nsv1053962	chr10:42614424-42820273	ZNF genes & repeats Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
26	nsv1052417	chr10:42614424-42827991	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
27	nsv1051685	chr10:42614424-42850847	ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
28	nsv1045228	chr10:42614424-42869545	Weak transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
29	esv2760078	chr10:42614436-42892022	ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Strong transcription Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
30	nsv470932	chr10:42614560-42914605	ZNF genes & repeats Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
31	nsv433409	chr10:42614589-42841691	ZNF genes & repeats Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
32	esv3508659	chr10:42615402-42676398	Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
33	esv3508660	chr10:42615402-42676398	Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
34	esv2755165	chr10:42636467-42939368	ZNF genes & repeats Active TSS Weak transcription Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
35	nsv550626	chr10:42638556-42680407	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
36	nsv550627	chr10:42642528-42664245	ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases
37	nsv550628	chr10:42642528-42667035	ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Enhancers	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases
38	nsv550629	chr10:42642528-42714196	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
39	nsv948298	chr10:42648708-42649911	ZNF genes & repeats	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:0 , 50 per page) page:

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