Variant report

Variant	rs527803219
Chromosome Location	chr8:87354043-87354044
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	SIN3AK20	chr8:87353102-87355951	MCF-7	breast:	n/a	n/a
2	GATA3	chr8:87353824-87354286	T-47D	breast:	n/a	chr8:87354009-87354020
3	TCF7L2	chr8:87353895-87354595	MCF-7	breast:	n/a	n/a
4	POLR2A	chr8:87353918-87355892	GM12891	blood:	n/a	n/a
5	POLR2A	chr8:87353923-87354191	Hela-S3	cervix:	n/a	n/a
6	TCF12	chr8:87353865-87355022	A549	lung:	n/a	n/a
7	ELF1	chr8:87353713-87355083	MCF-7	breast:	n/a	n/a
8	POLR2A	chr8:87353813-87355583	Hela-S3	cervix:	n/a	n/a
9	HA-E2F1	chr8:87353765-87355534	MCF-7	breast:	n/a	chr8:87355044-87355054 chr8:87355199-87355211 chr8:87355038-87355048 chr8:87355071-87355086
10	SIN3AK20	chr8:87353355-87355613	MCF-7	breast:	n/a	n/a
11	KAP1	chr8:87353742-87354591	HEK293	kidney:	n/a	n/a
12	MAX	chr8:87353871-87355592	Hela-S3	cervix:	n/a	n/a
13	RCOR1	chr8:87353890-87355874	K562	blood:	n/a	n/a
14	RCOR1	chr8:87353883-87355542	Hela-S3	cervix:	n/a	n/a
15	KAP1	chr8:87353960-87354615	U2OS	brain:	n/a	n/a
16	POLR2A	chr8:87353881-87355863	Hela-S3	cervix:	n/a	n/a
17	SP1	chr8:87353849-87355131	HCT-116	colon:	n/a	chr8:87354651-87354660 chr8:87354656-87354677 chr8:87354651-87354661 chr8:87354626-87354638 chr8:87354938-87354952 chr8:87354650-87354661 chr8:87354627-87354637 chr8:87354627-87354641 chr8:87354651-87354660 chr8:87354628-87354637 chr8:87354626-87354638 chr8:87354651-87354665 chr8:87354627-87354636 chr8:87354650-87354662 chr8:87354626-87354637 chr8:87354652-87354661 chr8:87354942-87354951 chr8:87354650-87354662 chr8:87354942-87354952 chr8:87354627-87354636 chr8:87354651-87354661 chr8:87354627-87354637
18	MAX	chr8:87353502-87355834	MCF-7	breast:	n/a	n/a
19	RAD21	chr8:87353880-87354596	Hela-S3	cervix:	n/a	n/a
20	GATA3	chr8:87353851-87354246	MCF-7	breast:	n/a	chr8:87354009-87354020
21	TAF1	chr8:87353777-87355645	MCF-7	breast:	n/a	n/a
22	MXI1	chr8:87354027-87355747	Hela-S3	cervix:	n/a	chr8:87354066-87354075
23	POLR2A	chr8:87353934-87355838	ProgFib	skin:	n/a	n/a
24	POLR2A	chr8:87353969-87355168	Hela-S3	cervix:	n/a	n/a
25	NR2F2	chr8:87353789-87354876	MCF-7	breast:	n/a	n/a
26	ESR1	chr8:87353874-87354630	T-47D	breast:	n/a	n/a
27	USF2	chr8:87353928-87354465	Hela-S3	cervix:	n/a	chr8:87354066-87354077
28	NR2F2	chr8:87353677-87356047	MCF-7	breast:	n/a	n/a
29	GATA3	chr8:87353819-87354183	T-47D	breast:	n/a	chr8:87354009-87354020
30	MXI1	chr8:87353972-87355609	HepG2	liver:	n/a	chr8:87354066-87354075
31	POLR2A	chr8:87354016-87355616	HepG2	liver:	n/a	n/a
32	MAX	chr8:87353886-87355669	A549	lung:	n/a	n/a
33	NRF1	chr8:87353776-87355106	SK-N-SH	brain:	n/a	chr8:87354753-87354764 chr8:87354754-87354768 chr8:87354751-87354765 chr8:87354754-87354765
34	POLR2A	chr8:87353839-87355777	MCF-7	breast:	n/a	n/a
35	CHD2	chr8:87353836-87355713	Hela-S3	cervix:	n/a	chr8:87354764-87354774
36	RAD21	chr8:87353706-87354958	MCF-7	breast:	n/a	n/a
37	TBP	chr8:87353902-87354889	Hela-S3	cervix:	n/a	n/a
38	GTF2F1	chr8:87353935-87354820	Hela-S3	cervix:	n/a	n/a
39	EP300	chr8:87353690-87354869	MCF-7	breast:	n/a	chr8:87354622-87354631
40	MYC	chr8:87354037-87355418	K562	blood:	n/a	n/a
41	BHLHE40	chr8:87354025-87355140	HepG2	liver:	n/a	chr8:87354619-87354635 chr8:87355112-87355128
42	CEBPB	chr8:87353908-87354825	Hela-S3	cervix:	n/a	n/a
43	SP1	chr8:87353844-87355027	A549	lung:	n/a	chr8:87354651-87354660 chr8:87354656-87354677 chr8:87354651-87354661 chr8:87354626-87354638 chr8:87354938-87354952 chr8:87354650-87354661 chr8:87354627-87354637 chr8:87354627-87354641 chr8:87354651-87354660 chr8:87354628-87354637 chr8:87354626-87354638 chr8:87354651-87354665 chr8:87354627-87354636 chr8:87354650-87354662 chr8:87354626-87354637 chr8:87354652-87354661 chr8:87354942-87354951 chr8:87354650-87354662 chr8:87354942-87354952 chr8:87354627-87354636 chr8:87354651-87354661 chr8:87354627-87354637
44	ZNF217	chr8:87353721-87354585	MCF-7	breast:	n/a	n/a
45	GATA3	chr8:87353543-87355992	MCF-7	breast:	n/a	chr8:87355733-87355740 chr8:87355731-87355743 chr8:87354009-87354020 chr8:87355730-87355740
46	ZNF143	chr8:87353960-87355141	Hela-S3	cervix:	n/a	n/a
47	CEBPB	chr8:87353760-87355159	MCF-7	breast:	n/a	n/a
48	RAD21	chr8:87353734-87354941	MCF-7	breast:	n/a	n/a
49	GATA2	chr8:87353850-87355628	SH-SY5Y	brain:	n/a	chr8:87354009-87354020
50	ESR1	chr8:87353841-87354632	T-47D	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:87343507..87346048-chr8:87352479..87354263,2	MCF-7	breast:
2	chr8:87341673..87343507-chr8:87352769..87354965,2	MCF-7	breast:
3	chr8:87329069..87335338-chr8:87352769..87359177,10	MCF-7	breast:
4	chr8:87211911..87212654-chr8:87354020..87354928,4	MCF-7	breast:
5	chr8:87278061..87279792-chr8:87353033..87354538,2	MCF-7	breast:
6	chr8:87353718..87358209-chr8:87386085..87389077,4	MCF-7	breast:

Variant related genes	Relation type
WWP1	TF binding region
ENSG00000164893	Chromatin interaction
ENSG00000123124	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529563	chr8:86467090-87381984	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
2	nsv932023	chr8:86845979-87490694	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
3	nsv429926	chr8:87161695-87429872	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	esv3349873	chr8:87185763-87603726	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
5	esv3360246	chr8:87200232-87419244	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
6	nsv1017535	chr8:87261702-87367934	Flanking Active TSS Weak transcription Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
7	esv3441725	chr8:87342885-87359895	Weak transcription Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
8	esv3358016	chr8:87353861-87356409	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
9	esv3353126	chr8:87353861-87356559	Flanking Active TSS Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:87350600-87354200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
2	chr8:87350800-87354200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
3	chr8:87353200-87354200	Flanking Active TSS	Liver	Liver
4	chr8:87353200-87354200	Enhancers	Placenta	Placenta
5	chr8:87353400-87354200	Enhancers	Primary T helper naive cells from peripheral blood	blood
6	chr8:87353600-87354200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
7	chr8:87353600-87354400	Flanking Active TSS	Hela-S3	cervix
8	chr8:87353600-87354400	Flanking Active TSS	NHEK	skin
9	chr8:87353600-87354600	Enhancers	Primary T killer memory cells from peripheral blood	blood
10	chr8:87353600-87357400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr8:87353800-87354200	Enhancers	Primary T cells fromperipheralblood	blood
12	chr8:87353800-87354200	Enhancers	Primary T helper cells fromperipheralblood	blood
13	chr8:87353800-87354200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr8:87353800-87354200	Flanking Active TSS	Adipose Nuclei	Adipose
15	chr8:87353800-87354400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
16	chr8:87353800-87354400	Flanking Active TSS	Duodenum Mucosa	Duodenum
17	chr8:87353800-87354400	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
18	chr8:87353800-87354400	Enhancers	Sigmoid Colon	Sigmoid Colon
19	chr8:87353800-87354400	Enhancers	Small Intestine	intestine
20	chr8:87353800-87354600	Flanking Active TSS	Dnd41	blood
21	chr8:87353800-87356000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr8:87353800-87356000	Active TSS	Brain Hippocampus Middle	brain
23	chr8:87353800-87356000	Active TSS	Rectal Smooth Muscle	rectum
24	chr8:87353800-87356800	Active TSS	Rectal Mucosa Donor 29	rectum
25	chr8:87353800-87357400	Active TSS	Stomach Smooth Muscle	stomach
26	chr8:87354000-87354200	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
27	chr8:87354000-87354200	Enhancers	Primary monocytes fromperipheralblood	blood
28	chr8:87354000-87354200	Enhancers	Primary T cells from cord blood	blood
29	chr8:87354000-87354200	Enhancers	Primary hematopoietic stem cells	blood
30	chr8:87354000-87354200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
31	chr8:87354000-87354200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
32	chr8:87354000-87354200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
33	chr8:87354000-87354200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr8:87354000-87354200	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
35	chr8:87354000-87354200	Enhancers	Brain Substantia Nigra	brain
36	chr8:87354000-87354200	Active TSS	Fetal Kidney	kidney
37	chr8:87354000-87354200	Enhancers	Fetal Lung	lung
38	chr8:87354000-87354200	Enhancers	Fetal Stomach	stomach
39	chr8:87354000-87354200	Enhancers	Left Ventricle	heart
40	chr8:87354000-87354200	Enhancers	Placenta Amnion	Placenta Amnion
41	chr8:87354000-87354200	Flanking Active TSS	HepG2	liver
42	chr8:87354000-87354200	Enhancers	Monocytes-CD14+_RO01746	blood
43	chr8:87354000-87354400	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
44	chr8:87354000-87354400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
45	chr8:87354000-87354400	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
46	chr8:87354000-87354400	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
47	chr8:87354000-87354400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr8:87354000-87354400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr8:87354000-87354400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr8:87354000-87354400	Flanking Active TSS	Brain Angular Gyrus	brain

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