Variant report

Variant	rs186593064
Chromosome Location	chr6:4053449-4053450
allele	G/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	chr6:4052887-4054196	K562	blood:	n/a	n/a
2	GATA3	chr6:4053059-4053554	SK-N-SH	brain:	n/a	chr6:4053393-4053414
3	GATA3	chr6:4052978-4053582	SK-N-SH	brain:	n/a	chr6:4053393-4053414

No.	Distal block	Cell Line	Cell type
1	chr6:4038778..4041215-chr6:4053376..4056511,3	K562	blood:
2	chr6:4046276..4049820-chr6:4052310..4055937,3	K562	blood:
3	chr6:4019656..4024130-chr6:4049502..4053557,5	K562	blood:

Variant related genes	Relation type
FAM217A	TF binding region
PRPF4B	TF binding region
ENSG00000230648	Chromatin interaction
ENSG00000112739	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532020	chr6:3417520-4140257	Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv1022968	chr6:3862744-4272502	Enhancers Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
3	nsv538106	chr6:3862744-4272502	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
4	nsv1034223	chr6:4030708-4060347	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
5	nsv462615	chr6:4052383-4096678	Strong transcription Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv600860	chr6:4052383-4096678	Strong transcription Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:4023000-4063600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr6:4023200-4064000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr6:4023400-4071600	Weak transcription	Stomach Mucosa	stomach
4	chr6:4023800-4067000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr6:4024600-4059200	Strong transcription	Fetal Thymus	thymus
6	chr6:4027200-4058200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
7	chr6:4030600-4065800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
8	chr6:4030800-4059000	Strong transcription	HUES64 Cell Line	embryonic stem cell
9	chr6:4030800-4066600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr6:4031000-4059200	Strong transcription	HUES6 Cell Line	embryonic stem cell
11	chr6:4031000-4066400	Strong transcription	HUES48 Cell Line	embryonic stem cell
12	chr6:4031200-4066600	Strong transcription	Monocytes-CD14+_RO01746	blood
13	chr6:4033400-4055200	Strong transcription	K562	blood
14	chr6:4033800-4054400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr6:4034000-4066800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr6:4035600-4063600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr6:4035600-4064200	Strong transcription	H1 Cell Line	embryonic stem cell
18	chr6:4035800-4054400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr6:4035800-4057400	Strong transcription	Cortex derived primary cultured neurospheres	brain
20	chr6:4035800-4058400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr6:4035800-4058600	Strong transcription	Primary T cells from cord blood	blood
22	chr6:4035800-4064600	Strong transcription	Primary B cells from peripheral blood	blood
23	chr6:4035800-4065000	Strong transcription	Dnd41	blood
24	chr6:4035800-4066000	Strong transcription	Primary monocytes fromperipheralblood	blood
25	chr6:4035800-4066000	Strong transcription	Rectal Mucosa Donor 29	rectum
26	chr6:4035800-4066200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
27	chr6:4036000-4058200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr6:4036000-4066600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr6:4036000-4066600	Strong transcription	Duodenum Mucosa	Duodenum
30	chr6:4036400-4055200	Strong transcription	Skeletal Muscle Female	skeletal muscle
31	chr6:4036600-4055200	Strong transcription	NHEK	skin
32	chr6:4037200-4059400	Strong transcription	Primary T cells fromperipheralblood	blood
33	chr6:4037200-4066200	Strong transcription	Liver	Liver
34	chr6:4037400-4054200	Strong transcription	NH-A	brain
35	chr6:4037400-4055600	Strong transcription	Hela-S3	cervix
36	chr6:4037400-4058400	Strong transcription	HepG2	liver
37	chr6:4037400-4059400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr6:4037400-4065800	Strong transcription	Placenta	Placenta
39	chr6:4037600-4053800	Strong transcription	Muscle Satellite Cultured Cells	--
40	chr6:4037600-4055400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr6:4037600-4066200	Strong transcription	Rectal Mucosa Donor 31	rectum
42	chr6:4037600-4066400	Strong transcription	Primary neutrophils fromperipheralblood	blood
43	chr6:4037800-4058600	Strong transcription	Primary T helper cells fromperipheralblood	blood
44	chr6:4037800-4058600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
45	chr6:4037800-4058800	Strong transcription	Primary T helper naive cells from peripheral blood	blood
46	chr6:4037800-4059400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
47	chr6:4038200-4058200	Strong transcription	Primary T helper cells PMA-I stimulated	--
48	chr6:4038800-4058200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
49	chr6:4038800-4066000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
50	chr6:4040000-4055200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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