Variant report

Variant	rs116600325
Chromosome Location	chr6:30432410-30432411
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	CTCF	chr6:30432400-30432550	Hela-S3	cervix:	n/a	chr6:30432482-30432495
2	CTCF	chr6:30432400-30432550	HFF-Myc	foreskin:	n/a	chr6:30432482-30432495

No.	Distal block	Cell Line	Cell type
1	chr6:30431634..30434565-chr6:30582972..30585070,2	K562	blood:
2	chr6:30430770..30433095-chr6:30579406..30582231,2	K562	blood:
3	chr6:30431634..30435485-chr6:30582972..30586314,3	K562	blood:
4	chr6:30431267..30434167-chr6:30612886..30615610,2	MCF-7	breast:

Variant related genes	Relation type
SUCLA2P1	TF binding region
TMPOP1	TF binding region
ENSG00000204568	Chromatin interaction
ENSG00000222894	Chromatin interaction
ENSG00000204569	Chromatin interaction
ENSG00000204564	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1025667	chr6:30292845-30638066	Flanking Active TSS Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers Bivalent Enhancer 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	825 gene(s)	inside rSNPs	diseases
2	esv3519970	chr6:30382942-31378788	Genic enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1030 gene(s)	inside rSNPs	diseases
3	esv3519971	chr6:30382942-31378788	Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1030 gene(s)	inside rSNPs	diseases
4	nsv601478	chr6:30383768-30438226	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	esv3336846	chr6:30420111-30432946	Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
6	nsv601481	chr6:30422632-31284253	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1012 gene(s)	inside rSNPs	diseases
7	nsv884065	chr6:30430520-30446055	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
8	nsv884066	chr6:30430875-30440732	Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
9	nsv884067	chr6:30430875-30446055	Bivalent Enhancer Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
10	nsv884068	chr6:30430875-30447987	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
11	nsv884069	chr6:30430875-30451474	Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
12	nsv884070	chr6:30430875-30472772	Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:30429800-30434200	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
2	chr6:30431000-30432600	Bivalent Enhancer	Primary hematopoietic stem cells	blood
3	chr6:30431000-30432600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr6:30431000-30432600	Bivalent Enhancer	Adipose Nuclei	Adipose
5	chr6:30431200-30432600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr6:30431400-30432600	Bivalent Enhancer	Fetal Intestine Small	intestine
7	chr6:30431400-30432800	Bivalent Enhancer	Spleen	Spleen
8	chr6:30431400-30433000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr6:30431400-30434000	Bivalent Enhancer	Primary T killer memory cells from peripheral blood	blood
10	chr6:30431600-30434200	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
11	chr6:30431600-30434200	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
12	chr6:30431800-30433800	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
13	chr6:30431800-30434200	Bivalent Enhancer	Primary B cells from peripheral blood	blood
14	chr6:30431800-30434400	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
15	chr6:30432000-30432600	Bivalent Enhancer	Right Ventricle	heart
16	chr6:30432000-30432600	Bivalent Enhancer	HepG2	liver
17	chr6:30432000-30432800	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
18	chr6:30432000-30433400	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr6:30432000-30433800	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
20	chr6:30432000-30434000	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
21	chr6:30432000-30434000	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
22	chr6:30432000-30434200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
23	chr6:30432000-30434200	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
24	chr6:30432200-30432800	Bivalent Enhancer	Primary B cells from cord blood	blood
25	chr6:30432200-30433600	Bivalent Enhancer	Primary T cells from cord blood	blood
26	chr6:30432200-30433800	Weak transcription	Right Atrium	heart
27	chr6:30432200-30434200	Bivalent Enhancer	Primary T helper naive cells from peripheral blood	blood
28	chr6:30432200-30434200	Weak transcription	Gastric	stomach
29	chr6:30432400-30433800	Weak transcription	Pancreas	Pancrea
30	chr6:30432400-30434000	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood

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