Variant report

Variant	rs56356468
Chromosome Location	chr8:131059249-131059250
allele	A/C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:131052756..131054836-chr8:131056637..131059542,2	K562	blood:
2	chr8:131057701..131060248-chr8:131066752..131069472,2	K562	blood:

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs73712851	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:30 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1018045	chr8:130863644-131122644	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	nsv612231	chr8:130868212-131132592	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
3	nsv524349	chr8:130868363-131132592	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
4	nsv1017292	chr8:130887132-131107258	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
5	nsv465808	chr8:130963259-131118658	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
6	nsv612232	chr8:130963259-131118658	Genic enhancers Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
7	nsv869334	chr8:131025093-131651487	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
8	nsv915580	chr8:131025093-131667578	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
9	nsv465810	chr8:131039109-131331012	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
10	nsv612234	chr8:131039109-131331012	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
11	esv1799633	chr8:131039142-131078918	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent Enhancer	Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	diseases
12	esv1851852	chr8:131039142-131078918	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	diseases
13	nsv533085	chr8:131042781-131755007	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
14	nsv612235	chr8:131054236-131061756	Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
15	esv1797811	chr8:131054236-131062502	Active TSS Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
16	esv1798281	chr8:131056079-131062502	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
17	nsv612236	chr8:131056079-131062502	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
18	nsv612237	chr8:131056079-131062933	Genic enhancers Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
19	nsv612238	chr8:131056677-131061863	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
20	nsv612239	chr8:131056677-131061980	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
21	nsv612240	chr8:131056677-131062033	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
22	nsv612241	chr8:131056677-131062231	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
23	nsv612242	chr8:131056677-131062286	Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
24	nsv612243	chr8:131056677-131062502	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
25	nsv612244	chr8:131056677-131062933	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
26	nsv612245	chr8:131056677-131064299	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
27	nsv612246	chr8:131056738-131062099	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
28	nsv612247	chr8:131056738-131062157	Enhancers Strong transcription Active TSS Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
29	nsv612248	chr8:131056738-131062231	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
30	nsv612249	chr8:131056738-131062502	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:131041400-131068600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr8:131051800-131063800	Weak transcription	Aorta	Aorta
3	chr8:131055000-131059800	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr8:131055000-131060000	Weak transcription	NHLF	lung
5	chr8:131055000-131060400	Weak transcription	HUVEC	blood vessel
6	chr8:131055000-131063800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr8:131055200-131059600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr8:131055200-131063000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr8:131055400-131060000	Weak transcription	A549	lung
10	chr8:131055400-131063800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr8:131055400-131064600	Weak transcription	HMEC	breast
12	chr8:131056000-131066600	Weak transcription	Hela-S3	cervix
13	chr8:131057600-131060400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr8:131057800-131059400	Enhancers	Placenta	Placenta
15	chr8:131057800-131059400	Enhancers	Placenta Amnion	Placenta Amnion
16	chr8:131057800-131059400	Enhancers	Spleen	Spleen
17	chr8:131058000-131059400	Enhancers	Cortex derived primary cultured neurospheres	brain
18	chr8:131058000-131063000	Weak transcription	Fetal Intestine Large	intestine
19	chr8:131058000-131063800	Weak transcription	Pancreas	Pancrea
20	chr8:131058000-131065200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr8:131058000-131065400	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr8:131058200-131060400	Weak transcription	Gastric	stomach
23	chr8:131058200-131060400	Weak transcription	Lung	lung
24	chr8:131058400-131059400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr8:131058400-131059400	Enhancers	Fetal Muscle Leg	muscle
26	chr8:131058400-131059800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr8:131058400-131062800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr8:131058400-131063600	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr8:131058400-131063800	Weak transcription	Fetal Brain Male	brain
30	chr8:131058400-131064200	Weak transcription	HUES64 Cell Line	embryonic stem cell
31	chr8:131058400-131065000	Weak transcription	H1 Cell Line	embryonic stem cell
32	chr8:131058400-131065000	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr8:131058400-131065200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr8:131058400-131065400	Weak transcription	HUES48 Cell Line	embryonic stem cell
35	chr8:131058400-131066400	Weak transcription	Ovary	ovary
36	chr8:131058400-131066600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr8:131058400-131066600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
38	chr8:131058400-131073800	Weak transcription	Stomach Mucosa	stomach
39	chr8:131058600-131059400	Enhancers	Duodenum Mucosa	Duodenum
40	chr8:131058600-131059600	Enhancers	Primary monocytes fromperipheralblood	blood
41	chr8:131058600-131060200	Weak transcription	Psoas Muscle	Psoas
42	chr8:131058600-131060400	Enhancers	Fetal Muscle Trunk	muscle
43	chr8:131058600-131060600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr8:131058600-131060600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
45	chr8:131058600-131066000	Weak transcription	Rectal Mucosa Donor 31	rectum
46	chr8:131058600-131066600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr8:131058600-131068000	Weak transcription	Colonic Mucosa	Colon
48	chr8:131058800-131059400	Enhancers	Primary B cells from peripheral blood	blood
49	chr8:131058800-131059400	Enhancers	Primary T helper cells PMA-I stimulated	--
50	chr8:131058800-131059400	Enhancers	Skeletal Muscle Male	skeletal muscle

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