Variant report

Variant	rs544650544
Chromosome Location	chr6:30754690-30754691
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:30705811..30713504-chr6:30753060..30768565,33	MCF-7	breast:
2	chr6:30752526..30755713-chr6:30784163..30787914,3	MCF-7	breast:
3	chr6:30754150..30756442-chr6:30758530..30761272,2	K562	blood:
4	chr6:30753093..30755671-chr6:30782246..30783854,2	K562	blood:
5	chr6:30748336..30749911-chr6:30753727..30756434,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000228022	Chromatin interaction
ENSG00000137312	Chromatin interaction
ENSG00000272273	Chromatin interaction
ENSG00000137331	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	esv2758041	chr6:30644693-30816319	Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	223 gene(s)	inside rSNPs	diseases
6	esv2759413	chr6:30644693-30816319	Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	223 gene(s)	inside rSNPs	diseases
7	nsv1015372	chr6:30704734-31582152	Active TSS Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	334 gene(s)	inside rSNPs	diseases
8	nsv538173	chr6:30704734-31582152	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	334 gene(s)	inside rSNPs	diseases
9	nsv870418	chr6:30713196-30755668	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
10	nsv527226	chr6:30716719-30772378	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
11	nsv884103	chr6:30729487-30755668	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
12	nsv1023695	chr6:30754540-30773349	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:30744000-30758000	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr6:30749400-30761200	Weak transcription	Lung	lung
3	chr6:30749800-30755800	Weak transcription	Right Atrium	heart
4	chr6:30749800-30757000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr6:30750000-30756000	Enhancers	Primary neutrophils fromperipheralblood	blood
6	chr6:30750400-30761200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr6:30750600-30755800	Weak transcription	Primary hematopoietic stem cells	blood
8	chr6:30750600-30755800	Weak transcription	Colon Smooth Muscle	Colon
9	chr6:30750600-30755800	Weak transcription	Fetal Thymus	thymus
10	chr6:30750600-30756000	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr6:30750600-30756000	Weak transcription	Stomach Mucosa	stomach
12	chr6:30750600-30758000	Weak transcription	Fetal Heart	heart
13	chr6:30750800-30755800	Weak transcription	Adipose Nuclei	Adipose
14	chr6:30750800-30761200	Weak transcription	Small Intestine	intestine
15	chr6:30750800-30761600	Weak transcription	NHDF-Ad	bronchial
16	chr6:30751000-30755800	Weak transcription	Primary B cells from cord blood	blood
17	chr6:30751000-30755800	Weak transcription	Rectal Smooth Muscle	rectum
18	chr6:30751000-30755800	Weak transcription	NHEK	skin
19	chr6:30751000-30756000	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr6:30751000-30756000	Weak transcription	HMEC	breast
21	chr6:30751000-30769800	Weak transcription	Right Ventricle	heart
22	chr6:30751200-30756600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr6:30751200-30757800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr6:30751400-30755200	Enhancers	Hela-S3	cervix
25	chr6:30751400-30755400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr6:30751400-30755800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr6:30752200-30756000	Weak transcription	Duodenum Mucosa	Duodenum
28	chr6:30752400-30755800	Weak transcription	Placenta	Placenta
29	chr6:30753000-30754800	Enhancers	GM12878-XiMat	blood
30	chr6:30753000-30755200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
31	chr6:30753000-30755200	Enhancers	Primary T helper cells PMA-I stimulated	--
32	chr6:30753000-30758000	Enhancers	Dnd41	blood
33	chr6:30753400-30755200	Enhancers	Primary T helper cells fromperipheralblood	blood
34	chr6:30753400-30755200	Enhancers	A549	lung
35	chr6:30753400-30757200	Enhancers	HepG2	liver
36	chr6:30753600-30755800	Enhancers	Primary hematopoietic stem cells short term culture	blood
37	chr6:30753600-30755800	Enhancers	Monocytes-CD14+_RO01746	blood
38	chr6:30753800-30754800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr6:30753800-30754800	Enhancers	Primary T cells fromperipheralblood	blood
40	chr6:30753800-30754800	Enhancers	Osteobl	bone
41	chr6:30753800-30755200	Enhancers	Primary T cells from cord blood	blood
42	chr6:30753800-30755200	Enhancers	NH-A	brain
43	chr6:30753800-30757600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
44	chr6:30754000-30754800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
45	chr6:30754000-30754800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
46	chr6:30754000-30754800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
47	chr6:30754000-30755200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
48	chr6:30754200-30754800	Enhancers	Primary T helper naive cells from peripheral blood	blood
49	chr6:30754200-30754800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr6:30754200-30755200	Enhancers	Primary T killer memory cells from peripheral blood	blood

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