Variant report

Variant	rs56346368
Chromosome Location	chr8:8642139-8642140
allele	A/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	STAT3	chr8:8642127-8642296	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:8635419..8638505-chr8:8640387..8644598,4	K562	blood:
2	chr8:8640474..8642635-chr8:8745832..8748288,2	MCF-7	breast:
3	chr8:8641971..8645218-chr8:8645421..8648443,3	MCF-7	breast:
4	chr8:8638841..8640661-chr8:8641963..8645166,3	K562	blood:

Variant related genes	Relation type
ENSG00000254367	TF binding region
ENSG00000254367	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs2409087	0.87[EUR][1000 genomes]
rs55934323	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56014335	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs56079410	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs56368264	0.93[AFR][1000 genomes]
rs73198273	0.87[EUR][1000 genomes]
rs73198275	0.87[EUR][1000 genomes]
rs73198277	0.87[EUR][1000 genomes]
rs73198284	0.87[EUR][1000 genomes]
rs73198285	0.87[EUR][1000 genomes]
rs73198292	0.87[EUR][1000 genomes]
rs73198293	0.87[EUR][1000 genomes]
rs73198294	0.87[EUR][1000 genomes]
rs73198296	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73198297	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73198298	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73200004	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73200015	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73200019	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73200021	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73200023	0.96[EUR][1000 genomes]
rs73200024	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv890331	chr8:8093240-8971100	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv1030433	chr8:8130629-8653691	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	nsv539447	chr8:8130629-8653691	Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	nsv1033463	chr8:8221922-8674333	Weak transcription Bivalent/Poised TSS Genic enhancers Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
5	nsv539451	chr8:8221922-8674333	Weak transcription Strong transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
6	nsv1019606	chr8:8353661-8736992	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
7	nsv539456	chr8:8353661-8736992	Strong transcription Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
8	nsv995047	chr8:8353662-8857913	Bivalent/Poised TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
9	nsv1022511	chr8:8493992-8737132	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
10	nsv539457	chr8:8493992-8737132	Genic enhancers Enhancers Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
11	esv1795023	chr8:8583943-8655580	Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
12	esv1825234	chr8:8583943-8655580	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
13	esv1824870	chr8:8583943-8699382	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
14	nsv610189	chr8:8590437-8664940	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
15	nsv831228	chr8:8608387-8790790	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
16	nsv1018828	chr8:8609880-8790660	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
17	nsv1022331	chr8:8610035-8787981	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
18	nsv917117	chr8:8621658-9313799	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:8621400-8646200	Weak transcription	Right Atrium	heart
2	chr8:8630600-8642200	Weak transcription	Fetal Brain Female	brain
3	chr8:8630800-8646400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr8:8630800-8647400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr8:8631000-8646400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr8:8631000-8647200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr8:8631000-8648400	Weak transcription	Fetal Stomach	stomach
8	chr8:8631200-8652400	Weak transcription	Ovary	ovary
9	chr8:8637600-8646000	Weak transcription	Left Ventricle	heart
10	chr8:8637600-8646200	Weak transcription	Pancreas	Pancrea
11	chr8:8637600-8648800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr8:8637600-8653400	Weak transcription	Stomach Smooth Muscle	stomach
13	chr8:8637600-8679800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr8:8637800-8642400	Weak transcription	Colon Smooth Muscle	Colon
15	chr8:8637800-8648000	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr8:8637800-8651000	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr8:8638000-8646200	Weak transcription	K562	blood
18	chr8:8638200-8651000	Weak transcription	Fetal Intestine Large	intestine
19	chr8:8639000-8646600	Weak transcription	Brain Germinal Matrix	brain
20	chr8:8639800-8646200	Weak transcription	Right Ventricle	heart
21	chr8:8640000-8646200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr8:8640000-8646200	Weak transcription	Fetal Muscle Trunk	muscle
23	chr8:8640200-8642200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr8:8640200-8642400	Enhancers	NHLF	lung
25	chr8:8640200-8646200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr8:8640200-8646200	Weak transcription	Lung	lung
27	chr8:8640200-8655600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr8:8640400-8643200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr8:8640400-8646200	Weak transcription	Primary T cells fromperipheralblood	blood
30	chr8:8640400-8646200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr8:8640400-8646400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr8:8640400-8646600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr8:8640400-8649000	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr8:8640600-8642200	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr8:8640600-8646200	Weak transcription	Fetal Intestine Small	intestine
36	chr8:8640600-8646400	Weak transcription	HUES6 Cell Line	embryonic stem cell
37	chr8:8640600-8648600	Weak transcription	A549	lung
38	chr8:8640600-8652000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr8:8640600-8653200	Weak transcription	Gastric	stomach
40	chr8:8640600-8654800	Weak transcription	Colonic Mucosa	Colon
41	chr8:8640800-8646200	Weak transcription	Placenta	Placenta
42	chr8:8640800-8648800	Weak transcription	Small Intestine	intestine
43	chr8:8640800-8652400	Weak transcription	Duodenum Mucosa	Duodenum
44	chr8:8641000-8642800	Strong transcription	Cortex derived primary cultured neurospheres	brain
45	chr8:8641000-8646400	Weak transcription	HUES48 Cell Line	embryonic stem cell
46	chr8:8641200-8642400	Enhancers	HSMMtube	muscle
47	chr8:8641200-8642800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr8:8641200-8642800	Enhancers	Skeletal Muscle Female	skeletal muscle
49	chr8:8641200-8643200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr8:8641200-8643600	Strong transcription	iPS-20b Cell Line	embryonic stem cell

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