Variant report

Variant	rs192844514
Chromosome Location	chr8:87353902-87353903
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	TCF12	chr8:87353865-87355022	A549	lung:	n/a	n/a
5	ELF1	chr8:87353713-87355083	MCF-7	breast:	n/a	n/a
6	POLR2A	chr8:87353813-87355583	Hela-S3	cervix:	n/a	n/a
7	HA-E2F1	chr8:87353765-87355534	MCF-7	breast:	n/a	chr8:87355044-87355054 chr8:87355199-87355211 chr8:87355038-87355048 chr8:87355071-87355086
8	SIN3AK20	chr8:87353355-87355613	MCF-7	breast:	n/a	n/a
9	KAP1	chr8:87353742-87354591	HEK293	kidney:	n/a	n/a
10	MAX	chr8:87353871-87355592	Hela-S3	cervix:	n/a	n/a
11	RCOR1	chr8:87353890-87355874	K562	blood:	n/a	n/a
12	RCOR1	chr8:87353883-87355542	Hela-S3	cervix:	n/a	n/a
13	POLR2A	chr8:87353881-87355863	Hela-S3	cervix:	n/a	n/a
14	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
15	MAX	chr8:87353502-87355834	MCF-7	breast:	n/a	n/a
16	RAD21	chr8:87353880-87354596	Hela-S3	cervix:	n/a	n/a
17	GATA3	chr8:87353851-87354246	MCF-7	breast:	n/a	chr8:87354009-87354020
18	TAF1	chr8:87353777-87355645	MCF-7	breast:	n/a	n/a
19	NR2F2	chr8:87353789-87354876	MCF-7	breast:	n/a	n/a
20	ESR1	chr8:87353874-87354630	T-47D	breast:	n/a	n/a
21	ELK1	chr8:87353867-87353954	Hela-S3	cervix:	n/a	n/a
22	NR2F2	chr8:87353677-87356047	MCF-7	breast:	n/a	n/a
23	GATA3	chr8:87353819-87354183	T-47D	breast:	n/a	chr8:87354009-87354020
24	MAX	chr8:87353886-87355669	A549	lung:	n/a	n/a
25	NRF1	chr8:87353776-87355106	SK-N-SH	brain:	n/a	chr8:87354753-87354764 chr8:87354754-87354768 chr8:87354751-87354765 chr8:87354754-87354765
26	POLR2A	chr8:87353839-87355777	MCF-7	breast:	n/a	n/a
27	CHD2	chr8:87353836-87355713	Hela-S3	cervix:	n/a	chr8:87354764-87354774
28	RAD21	chr8:87353706-87354958	MCF-7	breast:	n/a	n/a
29	TBP	chr8:87353902-87354889	Hela-S3	cervix:	n/a	n/a
30	EP300	chr8:87353690-87354869	MCF-7	breast:	n/a	chr8:87354622-87354631
31	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
32	ZNF217	chr8:87353721-87354585	MCF-7	breast:	n/a	n/a
33	GATA3	chr8:87353543-87355992	MCF-7	breast:	n/a	chr8:87355733-87355740 chr8:87355731-87355743 chr8:87354009-87354020 chr8:87355730-87355740
34	CEBPB	chr8:87353760-87355159	MCF-7	breast:	n/a	n/a
35	RAD21	chr8:87353734-87354941	MCF-7	breast:	n/a	n/a
36	GATA2	chr8:87353850-87355628	SH-SY5Y	brain:	n/a	chr8:87354009-87354020
37	ESR1	chr8:87353841-87354632	T-47D	breast:	n/a	n/a
38	RFX5	chr8:87353883-87355582	Hela-S3	cervix:	n/a	n/a
39	JUND	chr8:87353886-87355033	K562	blood:	n/a	chr8:87354704-87354718
40	SMC3	chr8:87353829-87354869	Hela-S3	cervix:	n/a	n/a
41	GATA3	chr8:87353632-87354633	MCF-7	breast:	n/a	chr8:87354009-87354020
42	POLR2A	chr8:87353826-87355203	HCT-116	colon:	n/a	n/a
43	GATA3	chr8:87353500-87357444	MCF-7	breast:	n/a	chr8:87355733-87355740 chr8:87356469-87356485 chr8:87355731-87355743 chr8:87354009-87354020 chr8:87355730-87355740
44	ELF1	chr8:87353733-87355797	MCF-7	breast:	n/a	chr8:87355091-87355103
45	SRF	chr8:87353824-87355684	MCF-7	breast:	n/a	chr8:87354652-87354662
46	PML	chr8:87353744-87355649	MCF-7	breast:	n/a	chr8:87355466-87355474

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	chr8:87278061..87279792-chr8:87353033..87354538,2	MCF-7	breast:
5	chr8:87353718..87358209-chr8:87386085..87389077,4	MCF-7	breast:

Variant related genes	Relation type
WWP1	TF binding region
ENSG00000123124	Chromatin interaction
ENSG00000164893	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:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:87343400-87354000	Weak transcription	Right Atrium	heart
2	chr8:87347800-87354000	Weak transcription	Gastric	stomach
3	chr8:87347800-87354000	Weak transcription	Pancreas	Pancrea
4	chr8:87350600-87354000	Weak transcription	Primary T cells from cord blood	blood
5	chr8:87350600-87354000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr8:87350600-87354200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
7	chr8:87350800-87354200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr8:87353000-87354000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr8:87353200-87354000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
10	chr8:87353200-87354200	Flanking Active TSS	Liver	Liver
11	chr8:87353200-87354200	Enhancers	Placenta	Placenta
12	chr8:87353400-87354000	Flanking Active TSS	A549	lung
13	chr8:87353400-87354200	Enhancers	Primary T helper naive cells from peripheral blood	blood
14	chr8:87353600-87354000	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr8:87353600-87354000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
16	chr8:87353600-87354000	Active TSS	Brain Angular Gyrus	brain
17	chr8:87353600-87354000	Enhancers	Brain Inferior Temporal Lobe	brain
18	chr8:87353600-87354000	Enhancers	Fetal Intestine Small	intestine
19	chr8:87353600-87354000	Enhancers	HMEC	breast
20	chr8:87353600-87354000	Enhancers	K562	blood
21	chr8:87353600-87354200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
22	chr8:87353600-87354400	Flanking Active TSS	Hela-S3	cervix
23	chr8:87353600-87354400	Flanking Active TSS	NHEK	skin
24	chr8:87353600-87354600	Enhancers	Primary T killer memory cells from peripheral blood	blood
25	chr8:87353600-87357400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr8:87353800-87354000	Enhancers	ES-I3 Cell Line	embryonic stem cell
27	chr8:87353800-87354000	Enhancers	HUES6 Cell Line	embryonic stem cell
28	chr8:87353800-87354000	Enhancers	iPS-15b Cell Line	embryonic stem cell
29	chr8:87353800-87354000	Enhancers	iPS-18 Cell Line	embryonic stem cell
30	chr8:87353800-87354000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr8:87353800-87354000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr8:87353800-87354000	Enhancers	Brain Anterior Caudate	brain
33	chr8:87353800-87354000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
34	chr8:87353800-87354000	Enhancers	Colonic Mucosa	Colon
35	chr8:87353800-87354000	Enhancers	Fetal Heart	heart
36	chr8:87353800-87354000	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
37	chr8:87353800-87354000	Enhancers	Psoas Muscle	Psoas
38	chr8:87353800-87354000	Enhancers	Rectal Mucosa Donor 31	rectum
39	chr8:87353800-87354000	Enhancers	Skeletal Muscle Male	skeletal muscle
40	chr8:87353800-87354000	Active TSS	Skeletal Muscle Female	skeletal muscle
41	chr8:87353800-87354000	Enhancers	Stomach Mucosa	stomach
42	chr8:87353800-87354000	Active TSS	HepG2	liver
43	chr8:87353800-87354000	Enhancers	NHDF-Ad	bronchial
44	chr8:87353800-87354000	Enhancers	Osteobl	bone
45	chr8:87353800-87354200	Enhancers	Primary T cells fromperipheralblood	blood
46	chr8:87353800-87354200	Enhancers	Primary T helper cells fromperipheralblood	blood
47	chr8:87353800-87354200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr8:87353800-87354200	Flanking Active TSS	Adipose Nuclei	Adipose
49	chr8:87353800-87354400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
50	chr8:87353800-87354400	Flanking Active TSS	Duodenum Mucosa	Duodenum

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