Variant report

Variant	rs56035628
Chromosome Location	chr8:131268367-131268368
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:131267673..131269776-chr8:131275129..131276905,2	K562	blood:
2	chr8:131256131..131258801-chr8:131266345..131268864,3	MCF-7	breast:

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs73711686	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73711702	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73712874	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	nsv831461	chr8:131159819-131302900	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	nsv870148	chr8:131206342-131373989	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:131225800-131274800	Weak transcription	Hela-S3	cervix
2	chr8:131250800-131270600	Weak transcription	NH-A	brain
3	chr8:131250800-131289200	Weak transcription	Fetal Muscle Trunk	muscle
4	chr8:131252200-131270400	Weak transcription	Aorta	Aorta
5	chr8:131257400-131270400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr8:131257400-131281600	Weak transcription	Gastric	stomach
7	chr8:131258000-131275400	Weak transcription	Stomach Mucosa	stomach
8	chr8:131260000-131275200	Weak transcription	Fetal Intestine Small	intestine
9	chr8:131260600-131271600	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr8:131260800-131270200	Weak transcription	Right Ventricle	heart
11	chr8:131260800-131272800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr8:131261200-131274400	Weak transcription	Fetal Muscle Leg	muscle
13	chr8:131261400-131271000	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr8:131261400-131275800	Weak transcription	Primary hematopoietic stem cells	blood
15	chr8:131261600-131268400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr8:131261600-131270400	Weak transcription	Spleen	Spleen
17	chr8:131261600-131270400	Weak transcription	NHEK	skin
18	chr8:131261600-131275400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr8:131261800-131276000	Weak transcription	K562	blood
20	chr8:131262000-131271600	Weak transcription	Primary B cells from cord blood	blood
21	chr8:131262200-131270800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr8:131262200-131276200	Weak transcription	Primary T cells fromperipheralblood	blood
23	chr8:131262400-131270400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr8:131262800-131271400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
25	chr8:131263000-131275800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
26	chr8:131263000-131276000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
27	chr8:131263200-131270600	Weak transcription	GM12878-XiMat	blood
28	chr8:131263400-131268600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr8:131263400-131268600	Enhancers	Muscle Satellite Cultured Cells	--
30	chr8:131263800-131268800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr8:131263800-131270800	Weak transcription	Brain Germinal Matrix	brain
32	chr8:131264400-131276200	Weak transcription	Fetal Heart	heart
33	chr8:131264800-131268400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr8:131264800-131271400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
35	chr8:131265400-131268400	Enhancers	Primary T helper cells PMA-I stimulated	--
36	chr8:131265400-131270400	Weak transcription	Brain Inferior Temporal Lobe	brain
37	chr8:131265600-131270400	Weak transcription	HSMM	muscle
38	chr8:131265600-131270600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr8:131265600-131270600	Weak transcription	Monocytes-CD14+_RO01746	blood
40	chr8:131265600-131271000	Weak transcription	Primary monocytes fromperipheralblood	blood
41	chr8:131265600-131271000	Weak transcription	HMEC	breast
42	chr8:131266000-131269400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr8:131266000-131270400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr8:131266200-131269600	Weak transcription	Osteobl	bone
45	chr8:131266400-131270400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr8:131266400-131270400	Weak transcription	Small Intestine	intestine
47	chr8:131266400-131271400	Weak transcription	Primary T helper cells fromperipheralblood	blood
48	chr8:131266600-131269200	Enhancers	A549	lung
49	chr8:131266800-131269000	Enhancers	Cortex derived primary cultured neurospheres	brain
50	chr8:131266800-131270600	Enhancers	Liver	Liver

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