Variant report

Variant	rs7844316
Chromosome Location	chr8:11304461-11304462
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	MXI1	chr8:11303509-11304788	SK-N-SH	brain:	n/a	n/a
2	RCOR1	chr8:11304338-11304645	K562	blood:	n/a	n/a
3	GATA3	chr8:11304241-11304584	SH-SY5Y	brain:	n/a	n/a
4	EP300	chr8:11304238-11304646	SK-N-SH_RA	brain:	n/a	n/a
5	EP300	chr8:11304216-11304636	SK-N-SH_RA	brain:	n/a	n/a
6	GATA3	chr8:11304173-11304661	SK-N-SH	brain:	n/a	n/a
7	GATA2	chr8:11304131-11304692	SH-SY5Y	brain:	n/a	n/a
8	RAD21	chr8:11304340-11304536	SK-N-SH_RA	brain:	n/a	n/a
9	REST	chr8:11304313-11304581	SK-N-SH	brain:	n/a	chr8:11304384-11304402
10	EP300	chr8:11303563-11305389	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:11303566..11306251-chr8:11321499..11323964,2	MCF-7	breast:
2	chr8:11303373..11305446-chr8:11310341..11312400,2	K562	blood:
3	chr8:11304077..11306061-chr8:11313210..11316017,2	K562	blood:

Variant related genes	Relation type
FAM167A	TF binding region

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs2618484	0.83[ASN][1000 genomes]
rs2736318	0.83[ASN][1000 genomes]
rs28613753	0.83[ASN][1000 genomes]
rs35592057	0.88[ASN][1000 genomes]
rs35667120	0.83[ASN][1000 genomes]
rs4585709	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4840563	0.88[ASN][1000 genomes]
rs4840564	0.88[ASN][1000 genomes]
rs60532605	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61523733	0.83[ASN][1000 genomes]
rs73544596	0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1035072	chr8:10819444-11480692	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv539473	chr8:10819444-11480692	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv529399	chr8:10970091-11805960	Enhancers Strong transcription Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
4	nsv1022525	chr8:11066191-11309356	Enhancers Genic enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
5	nsv539474	chr8:11066191-11309356	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
6	esv34097	chr8:11177372-11489894	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
7	nsv470183	chr8:11236975-11307118	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	nsv465465	chr8:11245064-11307118	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
9	nsv610275	chr8:11245064-11307118	Enhancers Genic enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
10	nsv522860	chr8:11253879-11330364	Bivalent/Poised TSS Active TSS Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
11	nsv890357	chr8:11286146-11330364	Bivalent/Poised TSS Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
12	nsv1030756	chr8:11292073-11332782	Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
13	nsv1022074	chr8:11292256-11394526	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:11280600-11308800	Weak transcription	Primary B cells from cord blood	blood
2	chr8:11286200-11306400	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr8:11287800-11313600	Weak transcription	Right Atrium	heart
4	chr8:11289800-11305800	Weak transcription	Osteobl	bone
5	chr8:11292400-11313000	Weak transcription	Pancreas	Pancrea
6	chr8:11296200-11305800	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr8:11296200-11319200	Enhancers	Fetal Thymus	thymus
8	chr8:11298200-11305800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr8:11298200-11306000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr8:11298200-11306000	Weak transcription	Fetal Heart	heart
11	chr8:11298400-11306000	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr8:11298400-11306000	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr8:11298800-11308600	Weak transcription	Primary B cells from peripheral blood	blood
14	chr8:11299200-11306000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr8:11299400-11306600	Enhancers	Stomach Mucosa	stomach
16	chr8:11299800-11304600	Enhancers	Thymus	Thymus
17	chr8:11300600-11305800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr8:11301200-11305800	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr8:11301400-11306200	Weak transcription	GM12878-XiMat	blood
20	chr8:11301800-11305800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr8:11302800-11305800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr8:11302800-11306400	Weak transcription	Lung	lung
23	chr8:11303200-11305800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr8:11303200-11306000	Weak transcription	Gastric	stomach
25	chr8:11303400-11304600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
26	chr8:11303400-11305800	Weak transcription	NHEK	skin
27	chr8:11303600-11305200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr8:11303600-11305200	Bivalent Enhancer	Placenta	Placenta
29	chr8:11303600-11323200	Enhancers	Brain Inferior Temporal Lobe	brain
30	chr8:11303800-11306800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr8:11304000-11304600	Enhancers	Brain Hippocampus Middle	brain
32	chr8:11304000-11304800	Enhancers	Fetal Brain Male	brain
33	chr8:11304000-11305800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
34	chr8:11304000-11306200	Enhancers	K562	blood
35	chr8:11304200-11304600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr8:11304200-11304600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr8:11304200-11305000	Weak transcription	Brain Anterior Caudate	brain
38	chr8:11304400-11305800	Weak transcription	Brain Substantia Nigra	brain
39	chr8:11304400-11305800	Weak transcription	Fetal Brain Female	brain
40	chr8:11304400-11306000	Weak transcription	Brain Angular Gyrus	brain

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