Variant report

Variant	rs375458646
Chromosome Location	chr8:90913936-90913937
allele	C/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	RAD21	chr8:90913891-90914613	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr8:90913673-90916136	Hela-S3	cervix:	n/a	n/a
3	HDAC2	chr8:90913832-90914474	H1-hESC	embryonic stem cell:	n/a	n/a
4	RCOR1	chr8:90913853-90914018	GM12878	blood:	n/a	n/a
5	SRF	chr8:90913866-90914957	ECC-1	luminal epithelium:	n/a	chr8:90914647-90914657
6	SP1	chr8:90913251-90914932	A549	lung:	n/a	chr8:90914762-90914771 chr8:90914227-90914239 chr8:90914752-90914761 chr8:90914752-90914761 chr8:90914227-90914239 chr8:90914761-90914773 chr8:90914762-90914776 chr8:90914097-90914106 chr8:90914228-90914238 chr8:90914761-90914773 chr8:90914751-90914763 chr8:90914095-90914106 chr8:90914753-90914762
7	BCLAF1	chr8:90913912-90915243	GM12878	blood:	n/a	chr8:90914896-90914909 chr8:90914691-90914704 chr8:90914619-90914632 chr8:90914690-90914703 chr8:90914762-90914771 chr8:90914538-90914547
8	ATF3	chr8:90913906-90914228	K562	blood:	n/a	n/a
9	ELK4	chr8:90913890-90914747	Hela-S3	cervix:	n/a	chr8:90914195-90914206
10	POLR2A	chr8:90913752-90915437	H1-hESC	embryonic stem cell:	n/a	n/a
11	NR2F2	chr8:90913913-90914710	K562	blood:	n/a	n/a
12	TEAD4	chr8:90913892-90914903	K562	blood:	n/a	n/a
13	MXI1	chr8:90913766-90915355	GM12878	blood:	n/a	n/a
14	MAX	chr8:90913902-90915452	H1-hESC	embryonic stem cell:	n/a	chr8:90914898-90914908 chr8:90915180-90915190
15	MAZ	chr8:90913833-90915394	GM12878	blood:	n/a	chr8:90914898-90914908 chr8:90915180-90915190
16	GATA3	chr8:90913889-90915018	T-47D	breast:	n/a	chr8:90914769-90914778
17	EP300	chr8:90913879-90914241	H1-hESC	embryonic stem cell:	n/a	chr8:90914019-90914033
18	POLR2A	chr8:90913898-90915405	K562	blood:	n/a	n/a
19	EP300	chr8:90913682-90914368	A549	lung:	n/a	chr8:90914019-90914033 chr8:90913699-90913713
20	CEBPB	chr8:90913792-90914324	ECC-1	luminal epithelium:	n/a	chr8:90914018-90914029 chr8:90913819-90913830
21	STAT1	chr8:90913901-90915443	Hela-S3	cervix:	n/a	chr8:90914193-90914202 chr8:90914188-90914208 chr8:90915080-90915092 chr8:90914188-90914208 chr8:90915068-90915075 chr8:90915367-90915390 chr8:90914194-90914203 chr8:90914194-90914202 chr8:90914192-90914203 chr8:90914064-90914076
22	ZEB1	chr8:90913921-90914854	HepG2	liver:	n/a	n/a
23	RCOR1	chr8:90913825-90914895	Hela-S3	cervix:	n/a	n/a
24	SIN3AK20	chr8:90913437-90915573	MCF-7	breast:	n/a	n/a
25	MAX	chr8:90913871-90915358	HepG2	liver:	n/a	chr8:90914898-90914908 chr8:90915180-90915190
26	POLR2A	chr8:90913651-90915360	MCF10A-Er-Src	breast:	n/a	n/a
27	CTCF	chr8:90913920-90914070	HBMEC	blood vessel:	n/a	n/a
28	RFX5	chr8:90913792-90914045	K562	blood:	n/a	n/a
29	MAX	chr8:90913848-90915430	A549	lung:	n/a	chr8:90914898-90914908 chr8:90915180-90915190
30	GTF2F1	chr8:90913927-90914439	Hela-S3	cervix:	n/a	n/a
31	SRF	chr8:90913669-90915082	HCT-116	colon:	n/a	chr8:90914647-90914657
32	ATF2	chr8:90913899-90914900	GM12878	blood:	n/a	n/a
33	ATF3	chr8:90913879-90914156	H1-hESC	embryonic stem cell:	n/a	n/a
34	MYC	chr8:90913758-90914328	MCF10A-Er-Src	breast:	n/a	n/a
35	TCF7L2	chr8:90913839-90914941	Hela-S3	cervix:	n/a	n/a
36	NR2F2	chr8:90913729-90914900	MCF-7	breast:	n/a	n/a
37	POLR2A	chr8:90913906-90915390	NB4	blood:	n/a	n/a
38	POLR2A	chr8:90913775-90915037	HCT-116	colon:	n/a	n/a
39	FOXM1	chr8:90913867-90915443	MCF-7	breast:	n/a	n/a
40	MAZ	chr8:90913904-90915548	K562	blood:	n/a	chr8:90914898-90914908 chr8:90915180-90915190
41	POLR2A	chr8:90913921-90915443	GM18526	blood:	n/a	n/a
42	TCF12	chr8:90913924-90914353	H1-hESC	embryonic stem cell:	n/a	n/a
43	FOS	chr8:90913880-90914322	MCF10A-Er-Src	breast:	n/a	n/a
44	POLR2A	chr8:90913837-90915441	SK-N-MC	brain:	n/a	n/a
45	POLR2A	chr8:90913746-90915727	GM12891	blood:	n/a	n/a
46	MXI1	chr8:90913464-90915946	SK-N-SH	brain:	n/a	n/a
47	ZNF143	chr8:90913931-90914257	H1-hESC	embryonic stem cell:	n/a	n/a
48	MAZ	chr8:90913908-90915359	Hela-S3	cervix:	n/a	chr8:90914898-90914908 chr8:90915180-90915190
49	POLR2A	chr8:90913854-90915449	GM12878	blood:	n/a	n/a
50	MYC	chr8:90913767-90915566	K562	blood:	n/a	chr8:90914898-90914908 chr8:90915180-90915190

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:90913896-90913946	T-47D	breast:	n/a
2	chr8:90913896-90913946	IMR90	lung:	fetal
3	chr8:90913896-90913946	CMK	blood:	n/a
4	chr8:90913896-90913946	HPAEpiC	pulmonary alveolar:	n/a
5	chr8:90913896-90913946	AoSMC	blood vessel:	n/a
6	chr8:90913896-90913946	HEEpiC	esophagus:	n/a
7	chr8:90913896-90913946	NHDF-neo	bronchial:	n/a
8	chr8:90913896-90913946	SK-N-MC	brain:	n/a
9	chr8:90913896-90913946	HUVEC	blood vessel:	n/a
10	chr8:90913896-90913946	HMEC	breast:	n/a
11	chr8:90913896-90913946	HNPCEpiC	eye:	n/a
12	chr8:90913896-90913946	BE2_C	brain:	n/a
13	chr8:90913896-90913946	ProgFib	skin:	n/a
14	chr8:90913896-90913946	RPTEC	kidney:	n/a
15	chr8:90913896-90913946	MCF-7	breast:	n/a
16	chr8:90913896-90913946	PFSK-1	brain:	n/a
17	chr8:90913896-90913946	NHBE	bronchial:	n/a
18	chr8:90913896-90913946	HCF	heart:	n/a
19	chr8:90913896-90913946	HIPEpiC	eye:	n/a
20	chr8:90913896-90913946	GM12891	blood:	n/a
21	chr8:90913896-90913946	AG04450	lung:	fetal
22	chr8:90913896-90913946	BJ	skin:	n/a
23	chr8:90913896-90913946	AG10803	skin:	n/a
24	chr8:90913896-90913946	HepG2	liver:	n/a
25	chr8:90913896-90913946	ECC-1	luminal epithelium:	n/a
26	chr8:90913896-90913946	GM06990	blood:	n/a
27	chr8:90913896-90913946	SK-N-SH	brain:	n/a
28	chr8:90913896-90913946	NT2-D1	testis:	n/a
29	chr8:90913896-90913946	GM12892	blood:	n/a
30	chr8:90913896-90913946	HEK293	kidney:	embryo
31	chr8:90913896-90913946	HCT-116	colon:	n/a
32	chr8:90913896-90913946	GM12878	blood:	n/a
33	chr8:90913896-90913946	SKMC	muscle:	n/a
34	chr8:90913896-90913946	Hela-S3	cervix:	n/a
35	chr8:90913896-90913946	A549	lung:	n/a
36	chr8:90913896-90913946	HCM	heart:	n/a
37	chr8:90913896-90913946	SK-N-SH_RA	brain:	n/a
38	chr8:90913896-90913946	LNCaP	prostate:	n/a
39	chr8:90913896-90913946	AG09309	skin:	n/a
40	chr8:90913896-90913946	PrEC	prostate:	n/a
41	chr8:90913896-90913946	SAEC	small airway:	n/a
42	chr8:90913896-90913946	Jurkat	blood:	n/a
43	chr8:90913896-90913946	MCF10A-Er-Src	breast:	n/a
44	chr8:90913896-90913946	AG09319	gingival:	n/a
45	chr8:90913896-90913946	HL-60	blood:	n/a
46	chr8:90913896-90913946	HRE	kidney:	n/a
47	chr8:90913896-90913946	PANC-1	pancreas:	n/a
48	chr8:90913896-90913946	NB4	blood:	n/a
49	chr8:90913896-90913946	AG04449	skin:	fetal
50	chr8:90913896-90913946	H1-hESC	embryonic stem cell:	embryo

No.	Distal block	Cell Line	Cell type
1	chr8:90913376..90915525-chr8:90949213..90951083,2	K562	blood:
2	chr8:90767168..90772413-chr8:90911120..90917480,11	K562	blood:
3	chr8:90913376..90915361-chr8:90949165..90951083,2	K562	blood:
4	chr8:90767236..90773457-chr8:90912212..90919638,16	MCF-7	breast:
5	chr8:90913353..90915903-chr8:90994626..90998419,6	K562	blood:
6	chr8:90911185..90916499-chr8:90992960..90998209,20	MCF-7	breast:
7	chr8:90766999..90771986-chr8:90912842..90916534,13	MCF-7	breast:
8	chr8:90913046..90917912-chr8:90949306..90952418,7	MCF-7	breast:
9	chr8:90912595..90916756-chr8:90994852..90998205,9	K562	blood:
10	chr8:90913489..90916241-chr8:91996581..91998462,2	K562	blood:
11	chr8:90912518..90915342-chr8:90946692..90950309,3	MCF-7	breast:
12	chr8:90913007..90918207-chr8:90995257..90997906,9	MCF-7	breast:

Variant related genes	Relation type
OSGIN2	TF binding region
RNU6-925P	TF binding region
RNU6-925P	CpG island
OSGIN2	CpG island
ENSG00000251136	Chromatin interaction
ENSG00000104320	Chromatin interaction
ENSG00000104312	Chromatin interaction
ENSG00000253250	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv933502	chr8:90702392-91049100	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	62 gene(s)	inside rSNPs	diseases
2	nsv934114	chr8:90720182-90999106	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
3	esv3371037	chr8:90912579-90917077	Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
4	esv3328681	chr8:90913579-90916277	Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
5	esv3321826	chr8:90913604-90916152	Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:90897600-90914000	Weak transcription	Gastric	stomach
2	chr8:90904800-90914000	Weak transcription	Left Ventricle	heart
3	chr8:90905000-90914000	Weak transcription	Esophagus	oesophagus
4	chr8:90905000-90914000	Weak transcription	Lung	lung
5	chr8:90906200-90914000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr8:90906200-90914000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr8:90906200-90914000	Weak transcription	Spleen	Spleen
8	chr8:90912800-90916200	Active TSS	A549	lung
9	chr8:90913200-90914400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr8:90913200-90916000	Active TSS	iPS-15b Cell Line	embryonic stem cell
11	chr8:90913200-90917200	Active TSS	ES-I3 Cell Line	embryonic stem cell
12	chr8:90913400-90914000	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
13	chr8:90913400-90914000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
14	chr8:90913400-90914000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
15	chr8:90913400-90914000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
16	chr8:90913400-90914000	Active TSS	Placenta	Placenta
17	chr8:90913400-90914200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
18	chr8:90913400-90914200	Flanking Active TSS	Dnd41	blood
19	chr8:90913400-90915600	Active TSS	HUES48 Cell Line	embryonic stem cell
20	chr8:90913400-90915600	Active TSS	HUES64 Cell Line	embryonic stem cell
21	chr8:90913400-90916200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
22	chr8:90913400-90916200	Active TSS	HSMMtube	muscle
23	chr8:90913400-90916400	Active TSS	H1 Cell Line	embryonic stem cell
24	chr8:90913400-90916400	Active TSS	Brain Substantia Nigra	brain
25	chr8:90913400-90916600	Active TSS	iPS-20b Cell Line	embryonic stem cell
26	chr8:90913400-90916800	Active TSS	Brain Anterior Caudate	brain
27	chr8:90913600-90914000	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr8:90913600-90914000	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
29	chr8:90913600-90914000	Flanking Active TSS	NHEK	skin
30	chr8:90913600-90914200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr8:90913600-90914200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr8:90913600-90914200	Flanking Active TSS	Primary T cells from cord blood	blood
33	chr8:90913600-90914200	Flanking Active TSS	Primary hematopoietic stem cells	blood
34	chr8:90913600-90914200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
35	chr8:90913600-90914200	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
36	chr8:90913600-90914200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr8:90913600-90914200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
38	chr8:90913600-90914200	Flanking Active TSS	Liver	Liver
39	chr8:90913600-90914200	Flanking Active TSS	HUVEC	blood vessel
40	chr8:90913600-90914200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
41	chr8:90913600-90915600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr8:90913600-90915600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr8:90913600-90915600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr8:90913600-90915600	Active TSS	Brain Inferior Temporal Lobe	brain
45	chr8:90913600-90915600	Active TSS	Rectal Mucosa Donor 31	rectum
46	chr8:90913600-90915800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr8:90913600-90916000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr8:90913600-90916000	Active TSS	Breast Myoepithelial Primary Cells	Breast
49	chr8:90913600-90916000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr8:90913600-90916000	Active TSS	GM12878-XiMat	blood

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