Variant report

Variant	rs530304771
Chromosome Location	chr8:63952445-63952446
allele	A/G
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	FOS	chr8:63952330-63952635	MCF10A-Er-Src	breast:	n/a	n/a
2	EP300	chr8:63952226-63952728	HepG2	liver:	n/a	n/a
3	CEBPB	chr8:63951865-63952600	Hela-S3	cervix:	n/a	n/a
4	MYC	chr8:63950853-63952676	NB4	blood:	n/a	chr8:63951368-63951378
5	BHLHE40	chr8:63950992-63952486	K562	blood:	n/a	chr8:63951191-63951207 chr8:63951365-63951381 chr8:63951368-63951384 chr8:63951513-63951529 chr8:63951371-63951387 chr8:63951183-63951199
6	POLR2A	chr8:63950946-63952478	HepG2	liver:	n/a	n/a
7	POLR2A	chr8:63950862-63952492	GM12891	blood:	n/a	n/a
8	EP300	chr8:63952380-63952598	HepG2	liver:	n/a	n/a
9	MXI1	chr8:63950421-63952699	SK-N-SH	brain:	n/a	n/a
10	ARID3A	chr8:63951817-63952680	HepG2	liver:	n/a	n/a
11	MYC	chr8:63951992-63952645	MCF10A-Er-Src	breast:	n/a	n/a
12	IRF1	chr8:63951087-63952487	K562	blood:	n/a	chr8:63951817-63951831 chr8:63951943-63951952
13	CTCF	chr8:63952300-63952450	HRE	kidney:	n/a	n/a
14	RCOR1	chr8:63950963-63952636	K562	blood:	n/a	n/a
15	POLR2A	chr8:63952400-63952560	MCF10A-Er-Src	breast:	n/a	n/a
16	POLR2A	chr8:63951123-63952603	HL-60	blood:	n/a	n/a
17	IRF1	chr8:63950565-63952526	K562	blood:	n/a	chr8:63951817-63951831 chr8:63951943-63951952
18	ZMIZ1	chr8:63950922-63952655	K562	blood:	n/a	n/a
19	SP1	chr8:63952246-63952675	HepG2	liver:	n/a	n/a
20	TBP	chr8:63950840-63952486	K562	blood:	n/a	chr8:63952219-63952230
21	POLR2A	chr8:63951060-63952537	NB4	blood:	n/a	n/a
22	TCF7L2	chr8:63951194-63953253	HEK293	kidney:	n/a	chr8:63952479-63952489 chr8:63952502-63952511
23	CTCF	chr8:63952420-63952570	GM12874	blood:	n/a	n/a
24	KAP1	chr8:63951095-63952587	U2OS	brain:	n/a	n/a
25	TCF7L2	chr8:63951101-63952689	HCT-116	colon:	n/a	chr8:63952479-63952489 chr8:63952502-63952511
26	CEBPB	chr8:63951074-63952629	HepG2	liver:	n/a	n/a
27	MYBL2	chr8:63952175-63952718	HepG2	liver:	n/a	n/a
28	KAP1	chr8:63950945-63952566	HEK293	kidney:	n/a	n/a
29	CEBPB	chr8:63952361-63952542	HepG2	liver:	n/a	n/a
30	FOXA2	chr8:63952299-63952692	HepG2	liver:	n/a	n/a
31	TCF12	chr8:63950907-63952707	A549	lung:	n/a	chr8:63951134-63951141
32	MYC	chr8:63951028-63952520	K562	blood:	n/a	chr8:63951368-63951378
33	POLR2A	chr8:63950930-63952604	Raji	blood:	n/a	n/a
34	JUND	chr8:63951999-63952571	HepG2	liver:	n/a	n/a
35	POLR2A	chr8:63950974-63952493	HepG2	liver:	n/a	n/a
36	EP300	chr8:63952196-63952684	HepG2	liver:	n/a	n/a
37	CEBPB	chr8:63952286-63952631	K562	blood:	n/a	n/a
38	TCF7L2	chr8:63951820-63952670	HepG2	liver:	n/a	chr8:63952479-63952489 chr8:63952502-63952511
39	MXI1	chr8:63951087-63952524	HepG2	liver:	n/a	n/a
40	SMC3	chr8:63951808-63952658	HepG2	liver:	n/a	n/a
41	EP300	chr8:63951342-63952544	K562	blood:	n/a	chr8:63951520-63951536
42	TCF7L2	chr8:63951017-63952662	PANC-1	pancreas:	n/a	chr8:63952479-63952489 chr8:63952502-63952511
43	TCF7L2	chr8:63951346-63952593	Hela-S3	cervix:	n/a	chr8:63952479-63952489 chr8:63952502-63952511
44	FOXA1	chr8:63951988-63952743	HepG2	liver:	n/a	n/a
45	POLR2A	chr8:63950887-63952462	U87	brain:	n/a	n/a
46	NFIC	chr8:63952298-63952720	HepG2	liver:	n/a	n/a
47	MAZ	chr8:63950884-63952517	K562	blood:	n/a	chr8:63951368-63951378
48	JUND	chr8:63950846-63952586	K562	blood:	n/a	chr8:63951367-63951376
49	CEBPB	chr8:63952262-63952676	HepG2	liver:	n/a	n/a
50	TEAD4	chr8:63952296-63952685	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:63937516..63940331-chr8:63949992..63952545,2	K562	blood:
2	chr8:62675951..62679045-chr8:63950013..63952575,3	K562	blood:
3	chr8:63952036..63954071-chr8:63997414..63999820,2	MCF-7	breast:
4	chr8:63932840..63934408-chr8:63951913..63953581,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NKAIN3-9	chr8:63951612-63954212	NONHSAT126917

Variant related genes	Relation type
GGH	TF binding region
ENSG00000137563	Chromatin interaction
ENSG00000137561	Chromatin interaction
ENSG00000251127	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1033527	chr8:63673915-64073735	Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	esv3326059	chr8:63950223-63952971	Flanking Active TSS Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv465701	chr8:63951237-64080486	Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv611448	chr8:63951237-64080486	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:63949800-63952600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr8:63950000-63952600	Active TSS	NHLF	lung
3	chr8:63950200-63952600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr8:63950200-63952800	Active TSS	K562	blood
5	chr8:63950400-63952600	Active TSS	Brain Germinal Matrix	brain
6	chr8:63950600-63952600	Active TSS	H1 Cell Line	embryonic stem cell
7	chr8:63950600-63952600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
8	chr8:63950600-63952600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr8:63950600-63952600	Active TSS	Rectal Smooth Muscle	rectum
10	chr8:63950600-63953000	Active TSS	A549	lung
11	chr8:63950800-63952600	Flanking Active TSS	Primary B cells from cord blood	blood
12	chr8:63950800-63952600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr8:63950800-63952600	Active TSS	Duodenum Smooth Muscle	Duodenum
14	chr8:63950800-63952600	Active TSS	Fetal Kidney	kidney
15	chr8:63950800-63952600	Active TSS	Placenta	Placenta
16	chr8:63950800-63952600	Active TSS	Stomach Smooth Muscle	stomach
17	chr8:63951000-63952600	Active TSS	iPS-20b Cell Line	embryonic stem cell
18	chr8:63951000-63952600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr8:63951000-63952600	Active TSS	Primary T cells from cord blood	blood
20	chr8:63951000-63952600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr8:63951000-63952600	Active TSS	Aorta	Aorta
22	chr8:63951000-63952600	Active TSS	Brain Cingulate Gyrus	brain
23	chr8:63951000-63952600	Active TSS	Fetal Brain Male	brain
24	chr8:63951000-63952600	Active TSS	Fetal Heart	heart
25	chr8:63951000-63952600	Bivalent/Poised TSS	HepG2	liver
26	chr8:63952000-63952600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
27	chr8:63952000-63952600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
28	chr8:63952000-63952600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr8:63952000-63952600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
30	chr8:63952000-63952600	Flanking Active TSS	HMEC	breast
31	chr8:63952000-63952600	Flanking Active TSS	HUVEC	blood vessel
32	chr8:63952200-63952600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr8:63952200-63952600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr8:63952200-63952600	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr8:63952200-63952600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
36	chr8:63952200-63952600	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
37	chr8:63952200-63952600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
38	chr8:63952200-63952600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr8:63952200-63952600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
40	chr8:63952200-63952600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr8:63952200-63952600	Flanking Active TSS	Adipose Nuclei	Adipose
42	chr8:63952200-63952600	Flanking Active TSS	Brain Anterior Caudate	brain
43	chr8:63952200-63952600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
44	chr8:63952200-63952600	Flanking Active TSS	Colon Smooth Muscle	Colon
45	chr8:63952200-63952600	Flanking Active TSS	Fetal Intestine Small	intestine
46	chr8:63952200-63952600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
47	chr8:63952200-63952600	Enhancers	Sigmoid Colon	Sigmoid Colon
48	chr8:63952200-63952600	Enhancers	Small Intestine	intestine
49	chr8:63952200-63952600	Flanking Active TSS	GM12878-XiMat	blood
50	chr8:63952200-63952600	Flanking Active TSS	Hela-S3	cervix

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