Variant report

Variant	rs540124760
Chromosome Location	chr8:131057620-131057621
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:131056726..131059122-chr8:131059475..131061608,2	K562	blood:
2	chr8:131052756..131054836-chr8:131056637..131059542,2	K562	blood:
3	chr8:131044244..131046702-chr8:131056220..131058655,2	MCF-7	breast:
4	chr8:131027127..131029868-chr8:131056253..131058573,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000153310	Chromatin interaction

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

Variant overlapped rSNPs/rCNVs (count:31 , 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	nsv1021229	chr8:130887132-131057897	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	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
16	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
17	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
18	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
19	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
20	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
21	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
22	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
23	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
24	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
25	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
26	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
27	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
28	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
29	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
30	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
31	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:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:131041400-131068600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr8:131043000-131058200	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr8:131051800-131063800	Weak transcription	Aorta	Aorta
4	chr8:131053200-131057800	Enhancers	Primary B cells from peripheral blood	blood
5	chr8:131054600-131057800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr8:131054600-131058200	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr8:131055000-131057800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr8:131055000-131057800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr8:131055000-131057800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr8:131055000-131057800	Weak transcription	Fetal Heart	heart
11	chr8:131055000-131057800	Weak transcription	Fetal Muscle Trunk	muscle
12	chr8:131055000-131057800	Weak transcription	Lung	lung
13	chr8:131055000-131057800	Weak transcription	Right Ventricle	heart
14	chr8:131055000-131057800	Weak transcription	Thymus	Thymus
15	chr8:131055000-131058000	Weak transcription	Left Ventricle	heart
16	chr8:131055000-131058800	Weak transcription	Right Atrium	heart
17	chr8:131055000-131059800	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr8:131055000-131060000	Weak transcription	NHLF	lung
19	chr8:131055000-131060400	Weak transcription	HUVEC	blood vessel
20	chr8:131055000-131063800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr8:131055200-131057800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr8:131055200-131057800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr8:131055200-131057800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr8:131055200-131057800	Weak transcription	Adipose Nuclei	Adipose
25	chr8:131055200-131057800	Weak transcription	Brain Anterior Caudate	brain
26	chr8:131055200-131057800	Weak transcription	Esophagus	oesophagus
27	chr8:131055200-131057800	Weak transcription	Fetal Intestine Large	intestine
28	chr8:131055200-131057800	Weak transcription	Fetal Intestine Small	intestine
29	chr8:131055200-131057800	Weak transcription	Fetal Muscle Leg	muscle
30	chr8:131055200-131057800	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr8:131055200-131057800	Weak transcription	Spleen	Spleen
32	chr8:131055200-131057800	Weak transcription	NHDF-Ad	bronchial
33	chr8:131055200-131057800	Weak transcription	Osteobl	bone
34	chr8:131055200-131058000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr8:131055200-131058000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr8:131055200-131058000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr8:131055200-131058200	Enhancers	Primary monocytes fromperipheralblood	blood
38	chr8:131055200-131058200	Weak transcription	HSMM	muscle
39	chr8:131055200-131058400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr8:131055200-131058600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr8:131055200-131059000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr8:131055200-131059600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
43	chr8:131055200-131063000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr8:131055400-131057800	Weak transcription	Primary T cells fromperipheralblood	blood
45	chr8:131055400-131057800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
46	chr8:131055400-131057800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
47	chr8:131055400-131057800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr8:131055400-131057800	Weak transcription	Colonic Mucosa	Colon
49	chr8:131055400-131057800	Weak transcription	Placenta	Placenta
50	chr8:131055400-131057800	Weak transcription	Placenta Amnion	Placenta Amnion

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