Variant report

Variant	rs527822813
Chromosome Location	chr6:56913581-56913582
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:56913257..56915032-chr6:56957847..56960567,2	K562	blood:
2	chr6:56910595..56916200-chr6:57035587..57038867,7	K562	blood:
3	chr6:56912603..56915115-chr6:57036560..57039100,2	MCF-7	breast:
4	chr6:56772967..56775962-chr6:56913388..56915663,2	K562	blood:

Variant related genes	Relation type
ENSG00000226803	Chromatin interaction
ENSG00000112208	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	nsv491933	chr6:56177722-57171010	Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv934026	chr6:56382056-57184218	Flanking Bivalent TSS/Enh Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv533050	chr6:56504480-57297586	Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS 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 miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
4	nsv1021651	chr6:56569444-56966319	Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
5	nsv538228	chr6:56569444-56966319	Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer 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 target site	28 gene(s)	inside rSNPs	diseases
6	esv3430228	chr6:56830972-57079281	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
7	nsv1026524	chr6:56902544-56951703	Weak transcription Strong transcription Active TSS Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
8	nsv970717	chr6:56903957-56955783	Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
9	nsv885913	chr6:56910884-56954439	Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
10	nsv970684	chr6:56912349-56953340	Strong transcription Genic enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
11	esv3374787	chr6:56912959-56955113	Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
12	esv2763988	chr6:56913072-56952630	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
13	nsv603189	chr6:56913453-56950609	Weak transcription Strong transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:56911600-56915400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr6:56911600-56916400	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr6:56911600-56916400	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr6:56911600-56920800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr6:56911600-56920800	Weak transcription	Aorta	Aorta
6	chr6:56911600-56925000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr6:56911600-56935200	Weak transcription	Gastric	stomach
8	chr6:56911600-56939800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr6:56911800-56914800	Weak transcription	Fetal Thymus	thymus
10	chr6:56911800-56915200	Weak transcription	Fetal Intestine Large	intestine
11	chr6:56911800-56915200	Weak transcription	Fetal Muscle Trunk	muscle
12	chr6:56911800-56915200	Weak transcription	Left Ventricle	heart
13	chr6:56911800-56915400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr6:56911800-56915400	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr6:56911800-56915600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr6:56911800-56915600	Weak transcription	Primary neutrophils fromperipheralblood	blood
17	chr6:56911800-56915800	Weak transcription	Lung	lung
18	chr6:56911800-56916400	Weak transcription	Fetal Muscle Leg	muscle
19	chr6:56911800-56916400	Weak transcription	Pancreas	Pancrea
20	chr6:56911800-56916400	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr6:56911800-56922200	Weak transcription	Right Ventricle	heart
22	chr6:56911800-56924200	Weak transcription	Colonic Mucosa	Colon
23	chr6:56911800-56930800	Weak transcription	Psoas Muscle	Psoas
24	chr6:56911800-56934200	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr6:56911800-56936200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr6:56911800-56943000	Weak transcription	Esophagus	oesophagus
27	chr6:56912800-56913600	Transcr. at gene 5' and 3'	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr6:56912800-56913600	Enhancers	Primary monocytes fromperipheralblood	blood
29	chr6:56912800-56913600	Genic enhancers	Primary hematopoietic stem cells	blood
30	chr6:56912800-56913600	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood
31	chr6:56912800-56913600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
32	chr6:56912800-56913600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr6:56912800-56913600	Transcr. at gene 5' and 3'	Muscle Satellite Cultured Cells	--
34	chr6:56912800-56913600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr6:56912800-56913600	Enhancers	Brain Anterior Caudate	brain
36	chr6:56912800-56913600	Enhancers	Fetal Intestine Small	intestine
37	chr6:56912800-56913600	Enhancers	Fetal Stomach	stomach
38	chr6:56912800-56913600	Genic enhancers	Skeletal Muscle Female	skeletal muscle
39	chr6:56912800-56913600	Transcr. at gene 5' and 3'	A549	lung
40	chr6:56912800-56913600	Flanking Active TSS	Hela-S3	cervix
41	chr6:56912800-56913800	Active TSS	Brain Germinal Matrix	brain
42	chr6:56912800-56913800	Flanking Active TSS	Fetal Brain Male	brain
43	chr6:56912800-56913800	Flanking Active TSS	HepG2	liver
44	chr6:56912800-56913800	Active TSS	NHLF	lung
45	chr6:56912800-56914000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
46	chr6:56912800-56914000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
47	chr6:56912800-56914200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr6:56912800-56914200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
49	chr6:56912800-56914200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr6:56912800-56914200	Enhancers	Brain Cingulate Gyrus	brain

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