Variant report

Variant	rs558393320
Chromosome Location	chr6:86206066-86206067
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:86205630..86207293-chr6:86209333..86212533,3	K562	blood:
2	chr6:86199220..86200919-chr6:86203979..86206335,3	K562	blood:
3	chr6:86182269..86185102-chr6:86204566..86206145,2	K562	blood:

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	nsv1017418	chr6:85344786-86259540	Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Enhancers Bivalent/Poised TSS Strong transcription Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv538347	chr6:85344786-86259540	Weak transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	nsv1022445	chr6:85972678-86392968	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
4	nsv538349	chr6:85972678-86392968	Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
5	esv3326486	chr6:86020165-86292456	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
6	esv3435075	chr6:86052235-86271910	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
7	nsv463937	chr6:86114766-86264374	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
8	nsv604092	chr6:86114766-86264374	Genic enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
9	nsv520112	chr6:86144875-86247759	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
10	nsv886333	chr6:86199243-86289415	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
11	nsv463939	chr6:86205323-86279737	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
12	nsv470839	chr6:86205323-86279737	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
13	nsv604093	chr6:86205323-86279737	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 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	chr6:86176800-86242600	Weak transcription	Gastric	stomach
2	chr6:86178800-86206800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr6:86186800-86206200	Weak transcription	Lung	lung
4	chr6:86186800-86211000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr6:86192600-86207000	Weak transcription	Brain Hippocampus Middle	brain
6	chr6:86192800-86221400	Weak transcription	Brain Substantia Nigra	brain
7	chr6:86193000-86221200	Weak transcription	A549	lung
8	chr6:86193200-86212200	Weak transcription	Brain Anterior Caudate	brain
9	chr6:86193400-86208600	Weak transcription	HUVEC	blood vessel
10	chr6:86193400-86219800	Weak transcription	Brain Cingulate Gyrus	brain
11	chr6:86195000-86211800	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr6:86195000-86219800	Weak transcription	Brain Angular Gyrus	brain
13	chr6:86196800-86206800	Weak transcription	Esophagus	oesophagus
14	chr6:86196800-86221600	Weak transcription	Spleen	Spleen
15	chr6:86199600-86219400	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr6:86200000-86219200	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr6:86200200-86219400	Weak transcription	Colon Smooth Muscle	Colon
18	chr6:86200600-86206600	Weak transcription	Fetal Stomach	stomach
19	chr6:86200600-86207200	Strong transcription	Osteobl	bone
20	chr6:86200600-86207400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr6:86200600-86208800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr6:86200600-86220400	Weak transcription	Psoas Muscle	Psoas
23	chr6:86200600-86221800	Weak transcription	Rectal Smooth Muscle	rectum
24	chr6:86200800-86206800	Weak transcription	NH-A	brain
25	chr6:86200800-86212800	Weak transcription	Rectal Mucosa Donor 29	rectum
26	chr6:86201000-86216600	Weak transcription	Left Ventricle	heart
27	chr6:86201600-86218800	Weak transcription	Fetal Muscle Trunk	muscle
28	chr6:86202600-86212000	Weak transcription	Primary T cells from cord blood	blood
29	chr6:86202800-86208400	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr6:86202800-86211800	Weak transcription	Ovary	ovary
31	chr6:86202800-86218800	Weak transcription	Stomach Smooth Muscle	stomach
32	chr6:86203000-86207000	Weak transcription	Aorta	Aorta
33	chr6:86203400-86219800	Weak transcription	NHLF	lung
34	chr6:86204800-86206400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr6:86204800-86207400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr6:86204800-86208000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr6:86204800-86208400	Weak transcription	NHEK	skin
38	chr6:86205000-86206800	Weak transcription	Fetal Muscle Leg	muscle
39	chr6:86205000-86207000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr6:86205000-86211000	Weak transcription	Adipose Nuclei	Adipose
41	chr6:86205000-86212400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr6:86205200-86206600	Weak transcription	Placenta	Placenta
43	chr6:86205200-86206800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr6:86205200-86207400	Strong transcription	HSMM	muscle
45	chr6:86205200-86208400	Weak transcription	Liver	Liver
46	chr6:86205200-86217600	Weak transcription	HSMMtube	muscle
47	chr6:86205200-86219600	Weak transcription	Placenta Amnion	Placenta Amnion
48	chr6:86205800-86208200	Weak transcription	HMEC	breast
49	chr6:86206000-86206800	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr6:86206000-86206800	Weak transcription	Fetal Intestine Large	intestine

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