Variant report

Variant	rs143404211
Chromosome Location	chr6:147527720-147527721
allele	-/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	POLR2A	chr6:147526471-147528189	K562	blood:	n/a	n/a
2	IRF1	chr6:147527682-147527934	K562	blood:	n/a	n/a
3	RFX5	chr6:147527680-147528175	K562	blood:	n/a	n/a
4	POLR2A	chr6:147522796-147527921	MCF10A-Er-Src	breast:	n/a	n/a
5	POLR2A	chr6:147526633-147527818	K562	blood:	n/a	n/a
6	IRF1	chr6:147525380-147528371	K562	blood:	n/a	chr6:147526878-147526890 chr6:147527041-147527055 chr6:147526209-147526220 chr6:147526878-147526890 chr6:147525907-147525916 chr6:147527979-147527993 chr6:147526876-147526893 chr6:147526956-147526968 chr6:147526878-147526895 chr6:147526957-147526967
7	TBL1XR1	chr6:147526718-147528321	K562	blood:	n/a	n/a
8	MYC	chr6:147527074-147528478	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:147217369..147219463-chr6:147527173..147529417,2	K562	blood:
2	chr6:147229677..147239083-chr6:147521152..147530893,22	K562	blood:
3	chr6:147475725..147486468-chr6:147521132..147528058,22	K562	blood:
4	chr6:147477631..147490692-chr6:147521132..147530003,24	K562	blood:
5	chr6:147245797..147247698-chr6:147527227..147529725,2	K562	blood:
6	chr6:147232346..147237544-chr6:147521050..147527983,13	K562	blood:
7	chr6:147231935..147237791-chr6:147522176..147527834,11	MCF-7	breast:

Variant related genes	Relation type
STXBP5-AS1	TF binding region
ENSG00000196634	Chromatin interaction
ENSG00000233452	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1019245	chr6:147350834-147609776	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
2	nsv538467	chr6:147350834-147609776	Weak transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
3	nsv886752	chr6:147443480-147729477	Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	esv1820434	chr6:147518489-147543262	Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv886753	chr6:147526508-147680291	Strong transcription Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:147522800-147528600	Active TSS	Duodenum Mucosa	Duodenum
2	chr6:147522800-147529000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr6:147523000-147527800	Active TSS	Skeletal Muscle Male	skeletal muscle
4	chr6:147523000-147528000	Active TSS	Pancreatic Islets	Pancreatic Islet
5	chr6:147523000-147528600	Active TSS	Brain Cingulate Gyrus	brain
6	chr6:147523000-147528800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr6:147523000-147528800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr6:147523000-147528800	Active TSS	Brain Anterior Caudate	brain
9	chr6:147523000-147528800	Active TSS	Fetal Adrenal Gland	Adrenal Gland
10	chr6:147523000-147529000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr6:147523000-147529200	Active TSS	NHLF	lung
12	chr6:147523000-147529600	Active TSS	Brain Inferior Temporal Lobe	brain
13	chr6:147523000-147529600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
14	chr6:147523000-147529800	Active TSS	Breast Myoepithelial Primary Cells	Breast
15	chr6:147523200-147527800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr6:147523200-147528400	Active TSS	K562	blood
17	chr6:147523200-147528800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr6:147523400-147528400	Active TSS	Muscle Satellite Cultured Cells	--
19	chr6:147523400-147528600	Active TSS	Rectal Mucosa Donor 31	rectum
20	chr6:147523400-147528600	Active TSS	NHDF-Ad	bronchial
21	chr6:147523400-147528800	Active TSS	Brain Angular Gyrus	brain
22	chr6:147523400-147529000	Active TSS	NHEK	skin
23	chr6:147523400-147529400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr6:147524200-147528200	Active TSS	Osteobl	bone
25	chr6:147524400-147529000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr6:147524600-147529800	Active TSS	HMEC	breast
27	chr6:147525800-147529600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr6:147526000-147528400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr6:147526000-147543400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr6:147526000-147543400	Weak transcription	Pancreas	Pancrea
31	chr6:147526000-147572200	Weak transcription	Lung	lung
32	chr6:147526200-147533800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr6:147526400-147530000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr6:147526400-147530200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
35	chr6:147526400-147539600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr6:147526400-147543200	Weak transcription	Stomach Mucosa	stomach
37	chr6:147526400-147543400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr6:147526400-147543400	Weak transcription	H9 Cell Line	embryonic stem cell
39	chr6:147526600-147529200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr6:147526600-147529800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr6:147526800-147527800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
42	chr6:147526800-147528000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
43	chr6:147526800-147528200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
44	chr6:147526800-147529600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
45	chr6:147527000-147527800	Enhancers	iPS-18 Cell Line	embryonic stem cell
46	chr6:147527000-147527800	Flanking Active TSS	Fetal Brain Female	brain
47	chr6:147527000-147529200	Active TSS	Rectal Mucosa Donor 29	rectum
48	chr6:147527200-147528000	Weak transcription	Hela-S3	cervix
49	chr6:147527200-147528400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
50	chr6:147527200-147528400	Weak transcription	Brain Germinal Matrix	brain

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