Variant report

Variant	rs559662848
Chromosome Location	chr8:19615844-19615845
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	chr8:19614811-19616510	A549	lung:	n/a	n/a
2	CTCF	chr8:19615740-19615890	WERI-Rb-1	eye:	n/a	n/a
3	MAX	chr8:19612923-19615860	A549	lung:	n/a	chr8:19614299-19614306
4	GTF2F1	chr8:19615184-19615926	Hela-S3	cervix:	n/a	n/a
5	CEBPB	chr8:19615298-19616422	A549	lung:	n/a	n/a
6	POLR2A	chr8:19614445-19615897	IMR90	lung:	n/a	n/a
7	MYC	chr8:19615301-19615846	MCF10A-Er-Src	breast:	n/a	n/a
8	EP300	chr8:19615199-19616170	A549	lung:	n/a	chr8:19615523-19615539
9	CTCF	chr8:19615780-19615930	K562	blood:	n/a	n/a
10	CTCF	chr8:19614272-19616595	A549	lung:	n/a	chr8:19614729-19614742 chr8:19615513-19615526 chr8:19615938-19615946 chr8:19615985-19615994 chr8:19614487-19614500 chr8:19614446-19614459 chr8:19614661-19614674 chr8:19614443-19614461
11	SMARCB1	chr8:19614035-19615908	Hela-S3	cervix:	n/a	n/a
12	CEBPB	chr8:19615043-19615946	A549	lung:	n/a	n/a
13	BCL3	chr8:19615043-19615926	A549	lung:	n/a	n/a
14	CTCF	chr8:19615820-19615970	GM12871	blood:	n/a	chr8:19615938-19615946
15	ZNF263	chr8:19615207-19615861	HEK293-T-REx	kidney:	n/a	n/a
16	CEBPB	chr8:19615218-19615888	Hela-S3	cervix:	n/a	n/a
17	CEBPB	chr8:19615306-19615868	HepG2	liver:	n/a	n/a
18	CTCF	chr8:19615700-19615850	GM12866	blood:	n/a	n/a
19	EP300	chr8:19615042-19616454	A549	lung:	n/a	chr8:19615523-19615539

No.	Distal block	Cell Line	Cell type
1	chr8:19265621..19266481-chr8:19615795..19616681,3	MCF-7	breast:
2	chr8:19497421..19499586-chr8:19613571..19616001,2	MCF-7	breast:
3	chr8:19316428..19318779-chr8:19615686..19617194,2	MCF-7	breast:
4	chr8:19534323..19537317-chr8:19613839..19616648,2	MCF-7	breast:

Variant related genes	Relation type
CSGALNACT1	TF binding region
ENSG00000147408	Chromatin interaction
ENSG00000253270	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949636	chr8:18957705-19664732	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv949304	chr8:19199688-19625912	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
3	nsv890625	chr8:19368697-19799641	Strong transcription Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
4	nsv1021575	chr8:19430653-19623452	Enhancers Active TSS Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv1021731	chr8:19515149-19643313	Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv610759	chr8:19561997-20068842	Enhancers Strong transcription Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
7	esv3343914	chr8:19613297-19615845	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	esv3443741	chr8:19613697-19616545	Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	esv3417669	chr8:19613772-19616120	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
10	esv3481472	chr8:19615507-19617552	Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
11	esv3481473	chr8:19615507-19617552	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:19613000-19616000	Active TSS	Brain Hippocampus Middle	brain
2	chr8:19613200-19616400	Active TSS	Brain Substantia Nigra	brain
3	chr8:19614000-19616000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
4	chr8:19614600-19616000	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
5	chr8:19615000-19616000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
6	chr8:19615000-19616200	Flanking Active TSS	Primary B cells from cord blood	blood
7	chr8:19615200-19616000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
8	chr8:19615200-19616000	Flanking Active TSS	Placenta	Placenta
9	chr8:19615200-19616200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
10	chr8:19615400-19616000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
11	chr8:19615400-19616000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
12	chr8:19615400-19616000	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
13	chr8:19615400-19616000	Enhancers	Spleen	Spleen
14	chr8:19615400-19616000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
15	chr8:19615400-19616200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
16	chr8:19615400-19616200	Flanking Active TSS	Primary T cells from cord blood	blood
17	chr8:19615400-19616200	Flanking Active TSS	Hela-S3	cervix
18	chr8:19615400-19616400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr8:19615600-19616000	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr8:19615600-19616000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
21	chr8:19615600-19616000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
22	chr8:19615600-19616000	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
23	chr8:19615600-19616000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr8:19615600-19616000	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr8:19615600-19616000	Enhancers	Esophagus	oesophagus
26	chr8:19615600-19616000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
27	chr8:19615600-19616000	Bivalent Enhancer	Fetal Thymus	thymus
28	chr8:19615600-19616000	Bivalent Enhancer	Thymus	Thymus
29	chr8:19615600-19616000	Bivalent Enhancer	NHLF	lung
30	chr8:19615600-19616200	Enhancers	Placenta Amnion	Placenta Amnion
31	chr8:19615600-19616200	Flanking Active TSS	A549	lung
32	chr8:19615600-19616200	Flanking Bivalent TSS/Enh	HepG2	liver
33	chr8:19615600-19616400	Enhancers	Primary B cells from peripheral blood	blood
34	chr8:19615600-19616400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
35	chr8:19615600-19616400	Enhancers	Gastric	stomach
36	chr8:19615600-19616400	Enhancers	K562	blood
37	chr8:19615600-19623800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
38	chr8:19615800-19616000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr8:19615800-19616000	Enhancers	Primary hematopoietic stem cells	blood
40	chr8:19615800-19616000	Enhancers	Primary hematopoietic stem cells short term culture	blood
41	chr8:19615800-19616000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr8:19615800-19616000	Enhancers	Cortex derived primary cultured neurospheres	brain
43	chr8:19615800-19616000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr8:19615800-19616000	Enhancers	Adipose Nuclei	Adipose
45	chr8:19615800-19616000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
46	chr8:19615800-19616000	Flanking Active TSS	Fetal Brain Female	brain
47	chr8:19615800-19616000	Enhancers	Right Ventricle	heart
48	chr8:19615800-19616200	Enhancers	Primary monocytes fromperipheralblood	blood
49	chr8:19615800-19616200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
50	chr8:19615800-19616200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood

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