Variant report

Variant	rs111995979
Chromosome Location	chr7:57254025-57254026
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	BATF	chr7:57254005-57254200	GM12878	blood:	n/a	n/a
2	POLR2A	chr7:57253997-57254145	H1-hESC	embryonic stem cell:	n/a	n/a
3	SPI1	chr7:57254001-57254155	GM12878	blood:	n/a	n/a
4	BCL11A	chr7:57253993-57254172	GM12878	blood:	n/a	n/a
5	BHLHE40	chr7:57253991-57254170	HepG2	liver:	n/a	n/a
6	TAF1	chr7:57254005-57254155	Hela-S3	cervix:	n/a	n/a
7	TCF12	chr7:57253980-57254157	HepG2	liver:	n/a	n/a
8	SIX5	chr7:57253994-57254170	K562	blood:	n/a	n/a
9	POLR2A	chr7:57253986-57254210	Gliobla	brain:	n/a	n/a
10	HEY1	chr7:57253989-57254171	HepG2	liver:	n/a	n/a
11	BCL11A	chr7:57254013-57254149	GM12878	blood:	n/a	n/a
12	SIN3AK20	chr7:57254009-57254151	HepG2	liver:	n/a	n/a
13	ZBTB33	chr7:57253925-57254175	GM12878	blood:	n/a	n/a
14	POLR2A	chr7:57253999-57254213	Hela-S3	cervix:	n/a	n/a
15	FOSL2	chr7:57253997-57254167	HepG2	liver:	n/a	n/a
16	SIX5	chr7:57253966-57254179	GM12878	blood:	n/a	n/a
17	SPI1	chr7:57253987-57254143	K562	blood:	n/a	n/a
18	GABPA	chr7:57253943-57254159	Hela-S3	cervix:	n/a	n/a
19	TAF1	chr7:57253992-57254143	Hela-S3	cervix:	n/a	n/a
20	FOSL2	chr7:57253967-57254193	HepG2	liver:	n/a	n/a
21	BATF	chr7:57253983-57254242	GM12878	blood:	n/a	n/a
22	RXRA	chr7:57253978-57254157	HepG2	liver:	n/a	n/a
23	ZBTB33	chr7:57253959-57254200	HepG2	liver:	n/a	n/a
24	HEY1	chr7:57254022-57254135	HepG2	liver:	n/a	n/a
25	ZBTB33	chr7:57253974-57254187	GM12878	blood:	n/a	n/a
26	RXRA	chr7:57253969-57254191	GM12878	blood:	n/a	n/a
27	SP1	chr7:57253983-57254213	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000228851	TF binding region
MTND2P6	TF binding region
ENSG00000236692	TF binding region

Extended variants
information (count: 37 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:37 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022563	chr7:56383876-57318888	Active TSS ZNF genes & repeats Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	54 gene(s)	inside rSNPs	diseases
2	nsv1020833	chr7:56511848-57323499	ZNF genes & repeats Active TSS Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	47 gene(s)	inside rSNPs	diseases
3	nsv538865	chr7:56511848-57323499	ZNF genes & repeats Active TSS Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	47 gene(s)	inside rSNPs	diseases
4	nsv1017561	chr7:56512618-57334136	Active TSS ZNF genes & repeats Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	47 gene(s)	inside rSNPs	diseases
5	nsv1033128	chr7:56787535-57493216	ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	27 gene(s)	inside rSNPs	diseases
6	nsv1016541	chr7:56823372-57806010	ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	38 gene(s)	inside rSNPs	diseases
7	nsv1031261	chr7:56949355-57601047	Enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Weak transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases
8	nsv1029803	chr7:57007829-57601047	ZNF genes & repeats Weak transcription Transcr. at gene 5' and 3' Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	28 gene(s)	inside rSNPs	diseases
9	nsv1019165	chr7:57065348-57659814	ZNF genes & repeats Weak transcription Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	25 gene(s)	inside rSNPs	diseases
10	nsv1032599	chr7:57065348-57667279	ZNF genes & repeats Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	25 gene(s)	inside rSNPs	diseases
11	nsv888071	chr7:57190580-57342226	ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
12	nsv607046	chr7:57190580-57493216	ZNF genes & repeats Active TSS Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
13	nsv607047	chr7:57190580-57608901	ZNF genes & repeats Weak transcription Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
14	nsv607048	chr7:57190580-58018981	ZNF genes & repeats Weak transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	44 gene(s)	inside rSNPs	diseases
15	esv2761119	chr7:57190580-58019970	ZNF genes & repeats Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	44 gene(s)	inside rSNPs	diseases
16	nsv1031756	chr7:57197811-57667279	ZNF genes & repeats Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases
17	nsv464484	chr7:57208666-57589803	ZNF genes & repeats Weak transcription Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
18	nsv607049	chr7:57208666-57589803	Active TSS ZNF genes & repeats Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
19	nsv520659	chr7:57208666-57868103	ZNF genes & repeats Active TSS Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	36 gene(s)	inside rSNPs	diseases
20	nsv1024514	chr7:57209598-57261358	ZNF genes & repeats Active TSS	TF binding region CpG island lncRNA	14 gene(s)	inside rSNPs	diseases
21	nsv1020026	chr7:57212585-57626147	ZNF genes & repeats Enhancers Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	21 gene(s)	inside rSNPs	diseases
22	nsv538866	chr7:57212585-57626147	Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	21 gene(s)	inside rSNPs	diseases
23	nsv1021925	chr7:57212785-57493216	ZNF genes & repeats Active TSS Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	19 gene(s)	inside rSNPs	diseases
24	nsv1027618	chr7:57212785-57493216	Flanking Active TSS ZNF genes & repeats Enhancers Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	19 gene(s)	inside rSNPs	diseases
25	nsv538867	chr7:57212785-57493216	Enhancers ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	19 gene(s)	inside rSNPs	diseases
26	nsv538868	chr7:57212785-57493216	ZNF genes & repeats Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	19 gene(s)	inside rSNPs	diseases
27	esv3384747	chr7:57241557-57258940	ZNF genes & repeats	TF binding region CpG island	7 gene(s)	inside rSNPs	diseases
28	esv3495414	chr7:57242624-57258940	ZNF genes & repeats	TF binding region CpG island	7 gene(s)	inside rSNPs	diseases
29	esv3495415	chr7:57242624-57258940	ZNF genes & repeats	TF binding region CpG island	7 gene(s)	inside rSNPs	diseases
30	nsv1017873	chr7:57244029-57882330	ZNF genes & repeats Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	35 gene(s)	inside rSNPs	diseases
31	nsv1030369	chr7:57246268-57493216	ZNF genes & repeats Enhancers Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
32	nsv538869	chr7:57246268-57493216	Bivalent/Poised TSS ZNF genes & repeats Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
33	nsv970490	chr7:57252783-57266304	ZNF genes & repeats	TF binding region	7 gene(s)	inside rSNPs	diseases
34	nsv1018512	chr7:57253403-57855404	ZNF genes & repeats Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases
35	nsv538870	chr7:57253403-57855404	ZNF genes & repeats Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases
36	nsv1017499	chr7:57253403-57886151	ZNF genes & repeats Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	36 gene(s)	inside rSNPs	diseases
37	nsv538871	chr7:57253403-57886151	ZNF genes & repeats Active TSS Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	36 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:57254000-57254800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell

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