Variant report

Variant	rs12081808
Chromosome Location	chr1:184569420-184569421
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:184566386..184568349-chr1:184568918..184571787,2	K562	blood:

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530079	chr1:183797938-184639971	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	esv2756618	chr1:184393343-184674343	Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Weak transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv1001323	chr1:184525419-185315876	Weak transcription Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
4	nsv535222	chr1:184525419-185315876	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
5	nsv832037	chr1:184568194-184756597	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:184547800-184580000	Weak transcription	Colon Smooth Muscle	Colon
2	chr1:184557200-184574000	Weak transcription	Fetal Muscle Trunk	muscle
3	chr1:184557200-184591600	Weak transcription	Aorta	Aorta
4	chr1:184558600-184572600	Weak transcription	Lung	lung
5	chr1:184559000-184588400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr1:184559200-184580400	Weak transcription	Adipose Nuclei	Adipose
7	chr1:184559400-184580400	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr1:184559600-184578000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr1:184560600-184571400	Weak transcription	Fetal Intestine Large	intestine
10	chr1:184560600-184591000	Weak transcription	Fetal Intestine Small	intestine
11	chr1:184562400-184580000	Weak transcription	Rectal Smooth Muscle	rectum
12	chr1:184562800-184579600	Weak transcription	Stomach Smooth Muscle	stomach
13	chr1:184563000-184573200	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr1:184563800-184573600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr1:184564200-184580200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr1:184564200-184580200	Weak transcription	Ovary	ovary
17	chr1:184564400-184574200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr1:184564400-184578200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr1:184565000-184578200	Weak transcription	Esophagus	oesophagus
20	chr1:184565200-184573400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr1:184565400-184578200	Weak transcription	NH-A	brain
22	chr1:184566400-184573400	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr1:184566600-184569800	Strong transcription	Liver	Liver
24	chr1:184566600-184578000	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr1:184566800-184588600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr1:184567000-184570200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr1:184567000-184571200	Weak transcription	Small Intestine	intestine
28	chr1:184567000-184572400	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr1:184567000-184573400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr1:184567000-184573800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr1:184567000-184577600	Weak transcription	Right Ventricle	heart
32	chr1:184567000-184580000	Weak transcription	Fetal Kidney	kidney
33	chr1:184567000-184580400	Weak transcription	Psoas Muscle	Psoas
34	chr1:184567200-184569800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr1:184567200-184571200	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr1:184567200-184573000	Weak transcription	Left Ventricle	heart
37	chr1:184567200-184573400	Weak transcription	Fetal Muscle Leg	muscle
38	chr1:184567200-184580400	Weak transcription	Colonic Mucosa	Colon
39	chr1:184567200-184580400	Weak transcription	Right Atrium	heart
40	chr1:184567200-184580400	Weak transcription	NHEK	skin
41	chr1:184567200-184590200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr1:184567400-184573400	Weak transcription	Skeletal Muscle Female	skeletal muscle
43	chr1:184567400-184573800	Weak transcription	Stomach Mucosa	stomach
44	chr1:184567400-184575600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr1:184567600-184577400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr1:184567800-184573400	Weak transcription	Duodenum Mucosa	Duodenum
47	chr1:184567800-184574200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr1:184567800-184577400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr1:184567800-184580200	Weak transcription	Fetal Lung	lung
50	chr1:184568000-184571200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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