Variant report

Variant	rs3853255
Chromosome Location	chr8:126009831-126009832
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	HDAC2	chr8:126009279-126012568	MCF-7	breast:	n/a	chr8:126011339-126011353 chr8:126012289-126012303 chr8:126011334-126011348 chr8:126009538-126009557
2	POLR2A	chr8:126009691-126011173	MCF10A-Er-Src	breast:	n/a	n/a
3	POLR2A	chr8:126009725-126010966	HepG2	liver:	n/a	n/a
4	POLR2A	chr8:126009254-126010004	HepG2	liver:	n/a	n/a
5	POLR2A	chr8:126009324-126011465	K562	blood:	n/a	n/a
6	RFX5	chr8:126009446-126011724	SK-N-SH	brain:	n/a	chr8:126010786-126010801 chr8:126009940-126009957 chr8:126010886-126010903 chr8:126009941-126009956 chr8:126010565-126010574 chr8:126010619-126010628
7	POLR2A	chr8:126009487-126011320	K562	blood:	n/a	n/a
8	MXI1	chr8:126009574-126012833	SK-N-SH	brain:	n/a	n/a
9	HEY1	chr8:126009445-126011082	HepG2	liver:	n/a	chr8:126010701-126010716 chr8:126010808-126010823 chr8:126010692-126010707
10	SIN3A	chr8:126009786-126012731	H1-hESC	embryonic stem cell:	n/a	chr8:126010733-126010744 chr8:126010052-126010063
11	POLR2A	chr8:126009364-126011891	GM12878	blood:	n/a	n/a
12	POLR2A	chr8:126009299-126011280	HepG2	liver:	n/a	n/a
13	POLR2A	chr8:126009811-126011419	HL-60	blood:	n/a	n/a
14	HDAC2	chr8:126009744-126011200	MCF-7	breast:	n/a	n/a
15	SREBP2	chr8:126009681-126011473	GM12878	blood:	n/a	n/a
16	GATA2	chr8:126009401-126009881	SH-SY5Y	brain:	n/a	n/a
17	MAX	chr8:126009650-126012765	MCF-7	breast:	n/a	chr8:126009942-126009951
18	POLR2A	chr8:126009770-126011191	K562	blood:	n/a	n/a
19	MYC	chr8:126009750-126011704	K562	blood:	n/a	chr8:126009942-126009951
20	POLR2A	chr8:126009642-126011044	HepG2	liver:	n/a	n/a
21	UBTF	chr8:126009671-126011930	K562	blood:	n/a	n/a
22	POLR2A	chr8:126009747-126011116	K562	blood:	n/a	n/a
23	ELF1	chr8:126009830-126011316	GM12878	blood:	n/a	chr8:126010626-126010635 chr8:126010868-126010877
24	STAT5A	chr8:126009742-126010413	GM12878	blood:	n/a	n/a
25	POLR2A	chr8:126009789-126011096	HepG2	liver:	n/a	n/a
26	SIN3AK20	chr8:126009244-126012839	MCF-7	breast:	n/a	n/a
27	POLR2A	chr8:126009487-126011476	K562	blood:	n/a	n/a
28	POLR2A	chr8:126009570-126011390	GM19099	blood:	n/a	n/a
29	REST	chr8:126009723-126011750	H1-neurons	neurons:	n/a	chr8:126010375-126010388 chr8:126011543-126011556 chr8:126010375-126010388
30	POLR2A	chr8:126009185-126013085	SK-N-MC	brain:	n/a	n/a
31	EGR1	chr8:126009571-126012062	MCF-7	breast:	n/a	chr8:126010771-126010781 chr8:126010703-126010716 chr8:126010460-126010469 chr8:126010651-126010661 chr8:126010646-126010659 chr8:126010556-126010566 chr8:126010456-126010470 chr8:126010701-126010711 chr8:126010015-126010028 chr8:126010769-126010783
32	POLR2A	chr8:126009827-126011299	GM18951	blood:	n/a	n/a
33	ELF1	chr8:126009738-126011497	MCF-7	breast:	n/a	chr8:126010626-126010635 chr8:126010868-126010877
34	GATA3	chr8:126009276-126011398	MCF-7	breast:	n/a	chr8:126009322-126009329
35	E2F6	chr8:126009719-126011279	K562	blood:	n/a	chr8:126011115-126011124 chr8:126010627-126010637 chr8:126010609-126010623 chr8:126010866-126010876 chr8:126010702-126010711 chr8:126010651-126010660 chr8:126010630-126010640 chr8:126010527-126010534
36	POLR2A	chr8:126009640-126011922	GM18505	blood:	n/a	n/a
37	HA-E2F1	chr8:126009717-126011905	MCF-7	breast:	n/a	chr8:126011115-126011124 chr8:126010627-126010637 chr8:126010609-126010623 chr8:126010866-126010876 chr8:126010702-126010711 chr8:126010651-126010660 chr8:126010630-126010640 chr8:126010527-126010534
38	POLR2A	chr8:126009736-126011327	K562	blood:	n/a	n/a
39	POLR2A	chr8:126009550-126012402	PBDE	blood:	n/a	n/a
40	POLR2A	chr8:126009452-126011892	Raji	blood:	n/a	n/a
41	POLR2A	chr8:126009356-126011744	K562	blood:	n/a	n/a
42	POLR2A	chr8:126009779-126010204	ECC-1	luminal epithelium:	n/a	n/a
43	MTA3	chr8:126009482-126011963	GM12878	blood:	n/a	n/a
44	POLR2A	chr8:126009761-126011891	GM19193	blood:	n/a	n/a
45	MAZ	chr8:126009630-126011712	IMR90	lung:	n/a	chr8:126009942-126009951
46	POLR2A	chr8:126009327-126012667	GM12891	blood:	n/a	n/a
47	MAX	chr8:126009809-126011422	HepG2	liver:	n/a	chr8:126009942-126009951
48	POLR2A	chr8:126009660-126011487	GM12892	blood:	n/a	n/a
49	RCOR1	chr8:126009370-126011350	K562	blood:	n/a	n/a
50	MAZ	chr8:126009762-126011146	GM12878	blood:	n/a	chr8:126009942-126009951

No.	Distal block	Cell Line	Cell type
1	chr8:125982086..125986890-chr8:126008872..126013713,7	MCF-7	breast:
2	chr8:125485961..125487605-chr8:126008959..126010729,2	MCF-7	breast:
3	chr8:125561947..125564833-chr8:126009022..126011860,2	MCF-7	breast:
4	chr8:125866488..125871186-chr8:126008597..126013344,9	MCF-7	breast:
5	chr8:125827679..125829366-chr8:126009547..126011817,2	K562	blood:
6	chr8:125984836..125986540-chr8:126007699..126010340,2	K562	blood:
7	chr17:56708310..56710672-chr8:126009685..126011795,2	MCF-7	breast:
8	chr8:125825718..125829730-chr8:126008807..126013107,8	K562	blood:
9	chr8:125981986..125989189-chr8:126007056..126015447,32	MCF-7	breast:
10	chr8:125989243..125991340-chr8:126007563..126010410,2	MCF-7	breast:
11	chr8:125551671..125554423-chr8:126007774..126010407,2	MCF-7	breast:
12	chr8:125971999..125973720-chr8:126007158..126010144,2	MCF-7	breast:
13	chr8:125991586..125993833-chr8:126007378..126010169,2	MCF-7	breast:

Variant related genes	Relation type
SQLE	TF binding region
ENSG00000255080	Chromatin interaction
ENSG00000245149	Chromatin interaction
ENSG00000180938	Chromatin interaction
ENSG00000212195	Chromatin interaction
ENSG00000170881	Chromatin interaction
ENSG00000147687	Chromatin interaction
ENSG00000147684	Chromatin interaction
ENSG00000255491	Chromatin interaction

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs10095831	0.84[ASW][hapmap];0.88[LWK][hapmap];0.90[YRI][hapmap];0.87[AFR][1000 genomes]
rs10105106	0.84[ASW][hapmap];0.96[LWK][hapmap];0.85[YRI][hapmap];0.92[AFR][1000 genomes]
rs10107103	0.94[YRI][hapmap];0.87[AFR][1000 genomes]
rs10107456	0.90[YRI][hapmap];0.87[AFR][1000 genomes]
rs10107535	0.90[YRI][hapmap];0.87[AFR][1000 genomes]
rs10107774	0.85[YRI][hapmap];0.92[AFR][1000 genomes]
rs10110658	0.90[YRI][hapmap];0.87[AFR][1000 genomes]
rs10113187	0.87[AFR][1000 genomes]
rs10216983	0.84[ASW][hapmap];0.96[LWK][hapmap];0.94[MKK][hapmap];0.85[YRI][hapmap];0.90[AFR][1000 genomes]
rs28373620	0.87[AFR][1000 genomes]
rs28426979	0.87[AFR][1000 genomes]
rs28478462	0.82[AFR][1000 genomes]
rs28483573	0.85[AFR][1000 genomes]
rs28499344	0.87[AFR][1000 genomes]
rs28537766	0.85[AFR][1000 genomes]
rs28612361	0.87[AFR][1000 genomes]
rs28654092	0.87[AFR][1000 genomes]
rs28656968	0.87[AFR][1000 genomes]
rs28684823	0.87[AFR][1000 genomes]
rs28705718	0.87[AFR][1000 genomes]
rs28711324	0.87[AFR][1000 genomes]
rs28714194	0.87[AFR][1000 genomes]
rs28808359	0.87[AFR][1000 genomes]
rs28813511	0.87[AFR][1000 genomes]
rs28816450	0.87[AFR][1000 genomes]
rs28829886	0.87[AFR][1000 genomes]
rs28869565	0.87[AFR][1000 genomes]
rs34299285	0.80[AFR][1000 genomes]
rs6987181	0.87[AFR][1000 genomes]
rs6987278	0.87[AFR][1000 genomes]
rs6990024	0.90[YRI][hapmap];0.87[AFR][1000 genomes]
rs6994686	0.84[ASW][hapmap];0.96[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.90[YRI][hapmap];0.88[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6995007	0.92[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7003311	0.84[ASW][hapmap];0.88[LWK][hapmap];0.90[YRI][hapmap];0.87[AFR][1000 genomes]
rs7007356	0.90[YRI][hapmap];0.87[AFR][1000 genomes]
rs73704505	0.92[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73706182	0.87[AFR][1000 genomes]
rs73706183	0.85[AFR][1000 genomes]
rs73706186	0.94[AFR][1000 genomes]
rs73706188	0.87[AFR][1000 genomes]
rs73706192	0.87[AFR][1000 genomes]
rs73707910	0.87[AFR][1000 genomes]
rs73707911	0.87[AFR][1000 genomes]
rs73707912	0.87[AFR][1000 genomes]
rs73707913	0.87[AFR][1000 genomes]
rs73707915	0.87[AFR][1000 genomes]
rs73707916	0.87[AFR][1000 genomes]
rs73707917	0.87[AFR][1000 genomes]
rs73707918	0.87[AFR][1000 genomes]
rs73707923	0.86[AFR][1000 genomes]
rs73707924	0.86[AFR][1000 genomes]
rs7812303	0.84[ASW][hapmap];0.88[LWK][hapmap];0.90[YRI][hapmap];0.87[AFR][1000 genomes]
rs7815271	0.93[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7828622	0.90[YRI][hapmap];0.87[AFR][1000 genomes]
rs7829785	0.84[ASW][hapmap];0.88[LWK][hapmap];0.90[YRI][hapmap];0.87[AFR][1000 genomes]
rs7830483	0.90[YRI][hapmap];0.87[AFR][1000 genomes]
rs7830592	0.90[YRI][hapmap];0.87[AFR][1000 genomes]
rs9297706	0.87[AFR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv891434	chr8:125630655-126324432	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:126009400-126010000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr8:126009400-126010000	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr8:126009400-126010000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr8:126009400-126010000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
5	chr8:126009400-126010000	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
6	chr8:126009400-126010000	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
7	chr8:126009400-126010000	Flanking Active TSS	HepG2	liver
8	chr8:126009400-126010000	Flanking Active TSS	K562	blood
9	chr8:126009400-126010200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr8:126009400-126010200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr8:126009400-126010200	Flanking Active TSS	Duodenum Mucosa	Duodenum
12	chr8:126009400-126010400	Flanking Active TSS	Dnd41	blood
13	chr8:126009400-126010400	Flanking Active TSS	NHDF-Ad	bronchial
14	chr8:126009400-126014000	Active TSS	iPS-20b Cell Line	embryonic stem cell
15	chr8:126009600-126010000	Enhancers	Primary T cells from cord blood	blood
16	chr8:126009600-126010000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr8:126009600-126010000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr8:126009600-126010000	Enhancers	Fetal Heart	heart
19	chr8:126009600-126010200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr8:126009600-126010200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
21	chr8:126009600-126010200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr8:126009600-126010200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr8:126009600-126010200	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
24	chr8:126009600-126010200	Flanking Active TSS	A549	lung
25	chr8:126009600-126010200	Flanking Active TSS	HMEC	breast
26	chr8:126009600-126010200	Flanking Active TSS	HSMMtube	muscle
27	chr8:126009600-126010200	Flanking Active TSS	NHEK	skin
28	chr8:126009600-126010400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr8:126009600-126010400	Flanking Active TSS	Fetal Brain Male	brain
30	chr8:126009600-126010400	Flanking Active TSS	Hela-S3	cervix
31	chr8:126009600-126010800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr8:126009600-126011400	Active TSS	Rectal Smooth Muscle	rectum
33	chr8:126009800-126010000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr8:126009800-126010000	Flanking Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr8:126009800-126010000	Enhancers	Primary B cells from cord blood	blood
36	chr8:126009800-126010000	Enhancers	Primary B cells from peripheral blood	blood
37	chr8:126009800-126010000	Enhancers	Primary T cells fromperipheralblood	blood
38	chr8:126009800-126010000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
39	chr8:126009800-126010000	Enhancers	Primary T helper cells PMA-I stimulated	--
40	chr8:126009800-126010000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
41	chr8:126009800-126010000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
42	chr8:126009800-126010000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr8:126009800-126010000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
44	chr8:126009800-126010000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
45	chr8:126009800-126010000	Flanking Active TSS	Brain Angular Gyrus	brain
46	chr8:126009800-126010000	Enhancers	Fetal Lung	lung
47	chr8:126009800-126010000	Enhancers	Placenta	Placenta
48	chr8:126009800-126010000	Enhancers	Gastric	stomach
49	chr8:126009800-126010000	Enhancers	Left Ventricle	heart
50	chr8:126009800-126010000	Enhancers	Pancreas	Pancrea

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