Variant report

Variant	rs544167467
Chromosome Location	chr6:30498817-30498818
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:30497178..30499425-chr6:30580124..30582637,2	MCF-7	breast:
2	chr6:30494651..30496200-chr6:30498206..30500229,2	K562	blood:
3	chr6:30457150..30459406-chr6:30498043..30501943,4	K562	blood:
4	chr6:30498128..30503882-chr6:30581008..30585701,7	K562	blood:

Variant related genes	Relation type
ENSG00000222894	Chromatin interaction
ENSG00000204592	Chromatin interaction
ENSG00000204568	Chromatin interaction
ENSG00000204569	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1025667	chr6:30292845-30638066	Flanking Active TSS Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	825 gene(s)	inside rSNPs	diseases
2	esv3519970	chr6:30382942-31378788	Genic enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1030 gene(s)	inside rSNPs	diseases
3	esv3519971	chr6:30382942-31378788	Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1030 gene(s)	inside rSNPs	diseases
4	nsv601481	chr6:30422632-31284253	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1012 gene(s)	inside rSNPs	diseases
5	nsv884077	chr6:30434900-30512163	Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
6	esv3430377	chr6:30443802-30814426	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	967 gene(s)	inside rSNPs	diseases
7	nsv884086	chr6:30462084-30672757	Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	798 gene(s)	inside rSNPs	diseases
8	nsv884090	chr6:30497652-30510992	Active TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:30486000-30500000	Weak transcription	Thymus	Thymus
2	chr6:30495000-30499000	Enhancers	Primary B cells from peripheral blood	blood
3	chr6:30495000-30501200	Enhancers	Primary B cells from cord blood	blood
4	chr6:30495400-30499000	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr6:30495800-30499000	Enhancers	Primary T killer memory cells from peripheral blood	blood
6	chr6:30496000-30499000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
7	chr6:30496000-30500000	Weak transcription	Right Atrium	heart
8	chr6:30496200-30500000	Weak transcription	Colon Smooth Muscle	Colon
9	chr6:30496200-30500000	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr6:30496400-30499000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
11	chr6:30496400-30500000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr6:30496400-30500000	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr6:30496400-30500000	Weak transcription	Stomach Mucosa	stomach
14	chr6:30496400-30500200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr6:30496400-30500200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr6:30496400-30500200	Weak transcription	NHEK	skin
17	chr6:30496400-30500200	Weak transcription	Osteobl	bone
18	chr6:30496400-30500400	Weak transcription	NHLF	lung
19	chr6:30496400-30513400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr6:30497000-30500400	Weak transcription	NHDF-Ad	bronchial
21	chr6:30497600-30500400	Enhancers	GM12878-XiMat	blood
22	chr6:30497600-30513400	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr6:30497800-30500000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr6:30498000-30500000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr6:30498200-30499600	Weak transcription	Primary T helper cells fromperipheralblood	blood
26	chr6:30498200-30499600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
27	chr6:30498200-30500200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr6:30498200-30500200	Enhancers	Primary T helper cells PMA-I stimulated	--
29	chr6:30498200-30500200	Weak transcription	Duodenum Mucosa	Duodenum
30	chr6:30498200-30500200	Weak transcription	HUVEC	blood vessel
31	chr6:30498200-30500400	Weak transcription	Liver	Liver
32	chr6:30498400-30499000	Enhancers	Monocytes-CD14+_RO01746	blood
33	chr6:30498400-30499600	Weak transcription	Primary T cells from cord blood	blood
34	chr6:30498400-30499600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
35	chr6:30498400-30499600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
36	chr6:30498400-30500000	Weak transcription	Adipose Nuclei	Adipose
37	chr6:30498400-30500000	Weak transcription	Fetal Thymus	thymus
38	chr6:30498400-30500400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
39	chr6:30498400-30501400	Weak transcription	Fetal Intestine Large	intestine
40	chr6:30498600-30499600	Weak transcription	Primary hematopoietic stem cells	blood
41	chr6:30498600-30499600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr6:30498600-30499800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
43	chr6:30498600-30500000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
44	chr6:30498600-30500200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr6:30498600-30500200	Weak transcription	Lung	lung
46	chr6:30498600-30500200	Weak transcription	K562	blood
47	chr6:30498600-30501400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr6:30498800-30499800	Weak transcription	Primary T cells fromperipheralblood	blood
49	chr6:30498800-30499800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
50	chr6:30498800-30499800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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