Variant report

Variant	rs558269193
Chromosome Location	chr6:35458269-35458270
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:35309583..35312440-chr6:35457595..35459373,2	K562	blood:
2	chr6:35427041..35429819-chr6:35457117..35459807,2	K562	blood:
3	chr6:35228241..35230981-chr6:35457144..35459454,2	K562	blood:
4	chr6:35308828..35312440-chr6:35455977..35459373,3	K562	blood:

Variant related genes	Relation type
ENSG00000112033	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

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	nsv528351	chr6:35377922-35465786	Flanking Active TSS Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	69 gene(s)	inside rSNPs	diseases
2	nsv519370	chr6:35378778-35537406	Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	72 gene(s)	inside rSNPs	diseases
3	nsv984463	chr6:35432948-35477634	Weak transcription Enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA	67 gene(s)	inside rSNPs	diseases
4	nsv602911	chr6:35457396-35465483	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	22 gene(s)	inside rSNPs	diseases
5	esv1843819	chr6:35457396-35465749	Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	23 gene(s)	inside rSNPs	diseases
6	esv1851060	chr6:35457396-35465749	Active TSS Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	23 gene(s)	inside rSNPs	diseases
7	esv1794339	chr6:35457396-35465786	Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	23 gene(s)	inside rSNPs	diseases
8	esv1800978	chr6:35457396-35465786	Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	23 gene(s)	inside rSNPs	diseases
9	esv1803037	chr6:35457396-35465786	Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	23 gene(s)	inside rSNPs	diseases
10	esv1837448	chr6:35457396-35465786	Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	23 gene(s)	inside rSNPs	diseases
11	nsv462909	chr6:35457396-35502202	Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	24 gene(s)	inside rSNPs	diseases
12	nsv602912	chr6:35457396-35502202	Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	24 gene(s)	inside rSNPs	diseases
13	nsv602913	chr6:35457842-35465422	Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:35443600-35462000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
2	chr6:35452400-35460000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr6:35452400-35461400	Enhancers	NH-A	brain
4	chr6:35454200-35458400	Weak transcription	HepG2	liver
5	chr6:35454200-35459400	Weak transcription	Liver	Liver
6	chr6:35454400-35459000	Enhancers	Placenta	Placenta
7	chr6:35454600-35459200	Enhancers	Placenta Amnion	Placenta Amnion
8	chr6:35454600-35461200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr6:35454800-35460200	Enhancers	HMEC	breast
10	chr6:35455200-35460000	Weak transcription	Fetal Kidney	kidney
11	chr6:35455200-35461400	Enhancers	Fetal Lung	lung
12	chr6:35455400-35460800	Enhancers	K562	blood
13	chr6:35455400-35463400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr6:35455800-35458600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr6:35456000-35461600	Enhancers	Muscle Satellite Cultured Cells	--
16	chr6:35456200-35461600	Weak transcription	GM12878-XiMat	blood
17	chr6:35456200-35462000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr6:35456200-35464400	Enhancers	Primary hematopoietic stem cells short term culture	blood
19	chr6:35456400-35459000	Weak transcription	A549	lung
20	chr6:35456400-35459600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr6:35456400-35459800	Weak transcription	Small Intestine	intestine
22	chr6:35456400-35460400	Enhancers	NHEK	skin
23	chr6:35456400-35461800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr6:35456800-35462000	Weak transcription	Primary B cells from cord blood	blood
25	chr6:35457200-35459400	Weak transcription	Hela-S3	cervix
26	chr6:35457200-35460400	Enhancers	Esophagus	oesophagus
27	chr6:35457200-35460600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr6:35457200-35461200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr6:35457200-35461600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr6:35457200-35461800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr6:35457200-35463200	Enhancers	Ovary	ovary
32	chr6:35457200-35463400	Enhancers	Lung	lung
33	chr6:35457200-35463600	Enhancers	Pancreas	Pancrea
34	chr6:35457600-35458800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr6:35457600-35463000	Enhancers	NHDF-Ad	bronchial
36	chr6:35457800-35458400	Flanking Active TSS	Brain Hippocampus Middle	brain
37	chr6:35457800-35458400	Enhancers	Sigmoid Colon	Sigmoid Colon
38	chr6:35457800-35458600	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr6:35457800-35458600	Flanking Active TSS	Brain Germinal Matrix	brain
40	chr6:35457800-35458600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
41	chr6:35457800-35458600	Flanking Active TSS	NHLF	lung
42	chr6:35457800-35458800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr6:35457800-35458800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr6:35457800-35458800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr6:35457800-35460200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
46	chr6:35457800-35460200	Enhancers	Spleen	Spleen
47	chr6:35457800-35462800	Flanking Active TSS	Stomach Smooth Muscle	stomach
48	chr6:35458000-35458400	Flanking Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr6:35458000-35458400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr6:35458000-35458400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain

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