Variant report

Variant	rs552222519
Chromosome Location	chr6:27683597-27683598
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:27677806..27681371-chr6:27682071..27685052,3	K562	blood:
2	chr6:27683083..27685640-chr6:27686917..27688772,2	MCF-7	breast:
3	chr6:27676729..27679149-chr6:27683111..27685492,2	K562	blood:

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	nsv1022797	chr6:27396961-27864277	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	390 gene(s)	inside rSNPs	diseases
2	nsv883510	chr6:27550712-27730064	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
3	nsv1023673	chr6:27570731-27688782	Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
4	nsv830618	chr6:27593274-27789605	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	143 gene(s)	inside rSNPs	diseases
5	nsv1031337	chr6:27596676-27734884	Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
6	nsv601204	chr6:27655564-27689502	Strong transcription Active TSS Genic enhancers Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
7	nsv601205	chr6:27656255-27730064	Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
8	esv3327708	chr6:27683503-27692934	Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:27662400-27684600	Weak transcription	Lung	lung
2	chr6:27662400-27685600	Weak transcription	Esophagus	oesophagus
3	chr6:27662600-27684000	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr6:27662800-27684000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr6:27662800-27684800	Weak transcription	Fetal Kidney	kidney
6	chr6:27662800-27688400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr6:27662800-27688600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr6:27662800-27689000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr6:27663000-27688600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr6:27663200-27683800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr6:27663200-27688400	Weak transcription	HMEC	breast
12	chr6:27663400-27687800	Weak transcription	NHEK	skin
13	chr6:27664600-27684600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr6:27668200-27684400	Weak transcription	Fetal Muscle Trunk	muscle
15	chr6:27669800-27684400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr6:27671400-27687200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
17	chr6:27671600-27688600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr6:27673000-27684800	Weak transcription	Primary hematopoietic stem cells	blood
19	chr6:27673200-27684800	Weak transcription	Primary T helper cells PMA-I stimulated	--
20	chr6:27673600-27687600	Weak transcription	Fetal Intestine Small	intestine
21	chr6:27674600-27687000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
22	chr6:27675200-27685000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
23	chr6:27677800-27683600	Weak transcription	Small Intestine	intestine
24	chr6:27678800-27684000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr6:27678800-27689000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr6:27679000-27685000	Weak transcription	Fetal Lung	lung
27	chr6:27679200-27686600	Weak transcription	Fetal Brain Male	brain
28	chr6:27679400-27688400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr6:27681200-27683800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr6:27681200-27685000	Weak transcription	Fetal Thymus	thymus
31	chr6:27681200-27685200	Weak transcription	Primary T cells fromperipheralblood	blood
32	chr6:27681200-27685600	Weak transcription	Primary T cells from cord blood	blood
33	chr6:27681200-27685600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr6:27681200-27686600	Weak transcription	K562	blood
35	chr6:27681200-27687000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
36	chr6:27681200-27687200	Weak transcription	HepG2	liver
37	chr6:27681200-27688200	Weak transcription	A549	lung
38	chr6:27681200-27688600	Weak transcription	H9 Cell Line	embryonic stem cell
39	chr6:27681200-27688600	Weak transcription	HUES48 Cell Line	embryonic stem cell
40	chr6:27681200-27688600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
41	chr6:27681200-27688800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr6:27681200-27688800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr6:27681400-27684200	Weak transcription	Rectal Mucosa Donor 29	rectum
44	chr6:27681400-27684400	Weak transcription	Thymus	Thymus
45	chr6:27681400-27686200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
46	chr6:27681600-27692200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr6:27681800-27683800	Weak transcription	Primary T helper cells fromperipheralblood	blood
48	chr6:27681800-27683800	Weak transcription	Brain Germinal Matrix	brain
49	chr6:27681800-27684600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
50	chr6:27681800-27684800	Weak transcription	Primary B cells from peripheral blood	blood

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