Variant report

Variant	rs13256784
Chromosome Location	chr8:89341038-89341039
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	CTCF	chr8:89341000-89341150	HFF	foreskin:	n/a	n/a
2	CTCF	chr8:89340734-89341451	MCF-7	breast:	n/a	n/a
3	ZNF217	chr8:89340931-89341256	MCF-7	breast:	n/a	n/a
4	TAF1	chr8:89340782-89341188	H1-hESC	embryonic stem cell:	n/a	n/a
5	CTCF	chr8:89340960-89341110	NHDF-neo	bronchial:	n/a	n/a
6	CTCF	chr8:89341000-89341150	GM12866	blood:	n/a	n/a
7	RAD21	chr8:89340934-89341277	GM12878	blood:	n/a	n/a
8	RAD21	chr8:89340774-89341398	A549	lung:	n/a	n/a
9	CTCF	chr8:89340801-89341271	H1-hESC	embryonic stem cell:	n/a	n/a
10	CTCF	chr8:89340837-89341350	IMR90	lung:	n/a	n/a
11	RAD21	chr8:89340671-89341420	H1-hESC	embryonic stem cell:	n/a	n/a
12	CTCF	chr8:89340980-89341130	GM12873	blood:	n/a	n/a
13	CTCF	chr8:89341000-89341150	NHEK	skin:	n/a	n/a
14	CTCF	chr8:89340988-89341185	HepG2	liver:	n/a	n/a
15	RAD21	chr8:89340922-89341194	HepG2	liver:	n/a	n/a
16	POLR2A	chr8:89340479-89341457	H1-neurons	neurons:	n/a	n/a
17	TBP	chr8:89340811-89341267	H1-hESC	embryonic stem cell:	n/a	n/a
18	CTCF	chr8:89340960-89341110	GM12868	blood:	n/a	n/a
19	CTCF	chr8:89340980-89341130	MCF-7	breast:	n/a	n/a
20	CTCF	chr8:89340980-89341130	HMEC	breast:	n/a	n/a
21	SPI1	chr8:89340959-89341167	GM12878	blood:	n/a	chr8:89341084-89341091 chr8:89341087-89341100
22	REST	chr8:89340816-89341167	SK-N-SH	brain:	n/a	chr8:89340911-89340924
23	REST	chr8:89340763-89341214	SK-N-SH	brain:	n/a	chr8:89340911-89340924
24	CTCF	chr8:89341020-89341170	AG04450	lung:	n/a	n/a
25	CTCF	chr8:89341000-89341150	HFF-Myc	foreskin:	n/a	n/a
26	RAD21	chr8:89340966-89341165	GM12878	blood:	n/a	n/a
27	CTCF	chr8:89341000-89341150	BE2_C	brain:	n/a	n/a
28	CTCF	chr8:89340980-89341130	HVMF	connective:	n/a	n/a
29	CTCF	chr8:89340924-89341192	LNCaP	prostate:	n/a	n/a
30	TCF12	chr8:89340838-89341221	H1-hESC	embryonic stem cell:	n/a	chr8:89340852-89340859
31	GATA3	chr8:89340172-89341133	MCF-7	breast:	n/a	chr8:89341072-89341080
32	REST	chr8:89338304-89341720	H1-neurons	neurons:	n/a	chr8:89338460-89338480 chr8:89340911-89340924 chr8:89339589-89339602 chr8:89339193-89339201 chr8:89339268-89339281
33	CTCF	chr8:89340835-89341302	T-47D	breast:	n/a	n/a
34	CTCF	chr8:89340915-89341263	SK-N-SH_RA	brain:	n/a	n/a
35	CTCF	chr8:89341020-89341170	HCPEpiC	choroid plexus:	n/a	n/a
36	BACH1	chr8:89340633-89341291	H1-hESC	embryonic stem cell:	n/a	n/a
37	SIN3AK20	chr8:89340803-89341171	PANC-1	pancreas:	n/a	n/a
38	POLR2A	chr8:89340466-89341344	H1-neurons	neurons:	n/a	n/a
39	CTCF	chr8:89340940-89341090	GM12865	blood:	n/a	n/a
40	CTCF	chr8:89340955-89341070	Spleen_OC	spleen:	n/a	n/a
41	POLR2A	chr8:89339401-89341221	H1-hESC	embryonic stem cell:	n/a	n/a
42	HDAC2	chr8:89340772-89341293	H1-hESC	embryonic stem cell:	n/a	chr8:89340812-89340826 chr8:89341182-89341196
43	CTCF	chr8:89340834-89341267	Fibrobl	skin:	n/a	n/a
44	CTCF	chr8:89340900-89341240	Gliobla	brain:	n/a	n/a
45	CTCF	chr8:89341020-89341170	GM12801	blood:	n/a	n/a
46	CTCF	chr8:89340910-89341236	SK-N-SH_RA	brain:	n/a	n/a
47	CTCF	chr8:89340920-89341070	GM12868	blood:	n/a	n/a
48	CTCF	chr8:89340971-89341185	Kidney_OC	kidney:	n/a	n/a
49	CTCF	chr8:89340968-89341125	Hela-S3	cervix:	n/a	n/a
50	CTCF	chr8:89340988-89341143	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:89336276..89338217-chr8:89340889..89343054,2	K562	blood:
2	chr12:111736341..111736860-chr8:89340825..89341444,2	MCF-7	breast:
3	chr12:56509168..56511032-chr8:89338903..89341041,2	MCF-7	breast:
4	chr8:89340595..89341565-chr8:89566032..89567395,11	MCF-7	breast:
5	chr8:89340294..89341947-chr8:89566335..89567397,24	MCF-7	breast:
6	chr8:89340717..89341497-chr8:89823523..89824135,2	MCF-7	breast:
7	chr8:89340700..89341308-chr8:89537775..89538662,2	MCF-7	breast:
8	chr8:89340837..89341409-chr8:89437211..89438075,2	MCF-7	breast:

Variant related genes	Relation type
MMP16	TF binding region
ENSG00000229117	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10504845	0.83[EUR][1000 genomes]
rs13258797	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13259754	0.85[ASN][1000 genomes]
rs13261175	0.92[AMR][1000 genomes]
rs1504801	0.88[AMR][1000 genomes]
rs16881203	0.83[EUR][1000 genomes]
rs16881281	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16892543	0.83[EUR][1000 genomes]
rs28787399	0.81[EUR][1000 genomes]
rs34578339	0.92[ASN][1000 genomes]
rs35175011	0.83[EUR][1000 genomes]
rs4246109	0.83[EUR][1000 genomes]
rs4246111	0.83[EUR][1000 genomes]
rs4395935	0.83[EUR][1000 genomes]
rs58255283	0.92[AMR][1000 genomes]
rs58418586	0.81[AMR][1000 genomes]
rs58644813	0.92[AMR][1000 genomes]
rs71526933	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs71526936	0.82[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs7825672	0.83[EUR][1000 genomes]

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	nsv1029898	chr8:88837956-89606641	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv1030028	chr8:89060085-89733470	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv1019111	chr8:89186908-89475460	Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv831386	chr8:89209788-89403546	Enhancers Genic enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	esv3426316	chr8:89338836-89341134	Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:89333200-89341600	Active TSS	Fetal Brain Female	brain
2	chr8:89334600-89341600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr8:89335000-89341400	Active TSS	Brain Inferior Temporal Lobe	brain
4	chr8:89335000-89341400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
5	chr8:89335200-89341200	Active TSS	Brain Germinal Matrix	brain
6	chr8:89335800-89341200	Active TSS	HUES48 Cell Line	embryonic stem cell
7	chr8:89336000-89341400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr8:89336000-89341400	Active TSS	Brain Angular Gyrus	brain
9	chr8:89336200-89341400	Active TSS	H1 Cell Line	embryonic stem cell
10	chr8:89336200-89341400	Active TSS	H9 Cell Line	embryonic stem cell
11	chr8:89336200-89341400	Active TSS	Brain Anterior Caudate	brain
12	chr8:89336400-89341200	Active TSS	Brain Cingulate Gyrus	brain
13	chr8:89336800-89341200	Active TSS	iPS-15b Cell Line	embryonic stem cell
14	chr8:89337000-89341200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr8:89337000-89341400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr8:89337200-89341200	Active TSS	Fetal Kidney	kidney
17	chr8:89337200-89341400	Active TSS	NHDF-Ad	bronchial
18	chr8:89337200-89341600	Active TSS	ES-I3 Cell Line	embryonic stem cell
19	chr8:89337400-89341600	Active TSS	NH-A	brain
20	chr8:89337600-89341200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr8:89337600-89341200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr8:89337600-89341200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr8:89337600-89341200	Bivalent/Poised TSS	Fetal Intestine Small	intestine
24	chr8:89337600-89341400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr8:89337800-89341200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr8:89337800-89341200	Active TSS	HUES6 Cell Line	embryonic stem cell
27	chr8:89337800-89341400	Active TSS	Fetal Brain Male	brain
28	chr8:89338000-89341400	Active TSS	NHLF	lung
29	chr8:89338200-89341200	Active TSS	iPS-18 Cell Line	embryonic stem cell
30	chr8:89338400-89341200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr8:89338400-89341200	Active TSS	HUES64 Cell Line	embryonic stem cell
32	chr8:89338400-89341200	Active TSS	Colon Smooth Muscle	Colon
33	chr8:89338400-89341200	Active TSS	Pancreatic Islets	Pancreatic Islet
34	chr8:89338400-89341200	Active TSS	Right Ventricle	heart
35	chr8:89338400-89341400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr8:89338400-89341400	Active TSS	iPS-20b Cell Line	embryonic stem cell
37	chr8:89338400-89341400	Active TSS	Ovary	ovary
38	chr8:89338600-89341200	Active TSS	Brain Substantia Nigra	brain
39	chr8:89338600-89341200	Active TSS	Fetal Lung	lung
40	chr8:89338600-89341400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr8:89338600-89341400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr8:89338800-89341200	Active TSS	Breast Myoepithelial Primary Cells	Breast
43	chr8:89338800-89341400	Active TSS	Osteobl	bone
44	chr8:89339200-89341200	Flanking Active TSS	Adipose Nuclei	Adipose
45	chr8:89339400-89341200	Bivalent/Poised TSS	Colonic Mucosa	Colon
46	chr8:89339400-89341200	Active TSS	Psoas Muscle	Psoas
47	chr8:89339400-89341200	Active TSS	Rectal Mucosa Donor 29	rectum
48	chr8:89339400-89341400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr8:89340000-89341200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr8:89340200-89341200	Flanking Active TSS	Primary hematopoietic stem cells	blood

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