Variant report

Variant	rs540378356
Chromosome Location	chr6:5086189-5086190
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:5082094..5085573-chr6:5086074..5088451,3	K562	blood:

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	nsv1023527	chr6:4729592-5387176	Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv462622	chr6:4904380-5172009	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv600871	chr6:4904380-5172009	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Genic enhancers 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 miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv600872	chr6:4975313-5342190	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
5	nsv1031837	chr6:4996667-5418726	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases
6	nsv1017380	chr6:5007870-5152551	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
7	nsv1017373	chr6:5066785-5128943	Weak transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	nsv538112	chr6:5066785-5128943	Enhancers Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
9	nsv1034681	chr6:5070351-5387176	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
10	nsv538113	chr6:5070351-5387176	Enhancers Genic enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
11	nsv1018152	chr6:5077025-5387176	Flanking Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
12	esv3439309	chr6:5084978-5087526	Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:5084200-5087400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
2	chr6:5084400-5086200	Active TSS	A549	lung
3	chr6:5084400-5086400	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
4	chr6:5084400-5086400	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr6:5084400-5086400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
6	chr6:5084400-5086400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
7	chr6:5084400-5086400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr6:5084400-5086400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
9	chr6:5084400-5086400	Active TSS	Brain Angular Gyrus	brain
10	chr6:5084400-5086400	Active TSS	Brain Cingulate Gyrus	brain
11	chr6:5084400-5086400	Active TSS	Brain Inferior Temporal Lobe	brain
12	chr6:5084400-5086400	Active TSS	Duodenum Smooth Muscle	Duodenum
13	chr6:5084400-5086400	Active TSS	Left Ventricle	heart
14	chr6:5084400-5086400	Active TSS	Rectal Mucosa Donor 31	rectum
15	chr6:5084400-5086400	Active TSS	Right Atrium	heart
16	chr6:5084400-5086600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
17	chr6:5084400-5086600	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
18	chr6:5084400-5086600	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr6:5084400-5086600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
20	chr6:5084400-5086600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
21	chr6:5084400-5086600	Active TSS	Colon Smooth Muscle	Colon
22	chr6:5084400-5086600	Active TSS	Ovary	ovary
23	chr6:5084400-5086800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
24	chr6:5084400-5086800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
25	chr6:5084400-5086800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
26	chr6:5084400-5086800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr6:5084400-5086800	Active TSS	Brain Anterior Caudate	brain
28	chr6:5084400-5086800	Active TSS	Brain Substantia Nigra	brain
29	chr6:5084400-5086800	Active TSS	Psoas Muscle	Psoas
30	chr6:5084400-5087000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr6:5084400-5087000	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
32	chr6:5084400-5087000	Bivalent Enhancer	Fetal Brain Male	brain
33	chr6:5084400-5087000	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
34	chr6:5084400-5087200	Active TSS	Rectal Smooth Muscle	rectum
35	chr6:5084600-5086200	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
36	chr6:5084600-5086200	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
37	chr6:5084600-5086400	Bivalent/Poised TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr6:5084600-5086400	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr6:5084600-5086400	Flanking Bivalent TSS/Enh	Primary mononuclear cells fromperipheralblood	Blood
40	chr6:5084600-5086400	Active TSS	Pancreatic Islets	Pancreatic Islet
41	chr6:5084600-5086600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr6:5084600-5086600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr6:5084600-5086600	Active TSS	Aorta	Aorta
44	chr6:5084600-5086800	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr6:5084800-5086200	Flanking Active TSS	HMEC	breast
46	chr6:5084800-5086400	Active TSS	HSMMtube	muscle
47	chr6:5084800-5086800	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr6:5084800-5086800	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr6:5085000-5086200	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr6:5085000-5086200	Flanking Active TSS	HUVEC	blood vessel

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