Variant report

Variant	rs12081205
Chromosome Location	chr1:220199934-220199935
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:220191199..220193834-chr1:220197562..220200114,2	K562	blood:
2	chr1:220198252..220200189-chr1:220204982..220206725,3	K562	blood:

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv427930	chr1:220120379-220333434	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	744 gene(s)	inside rSNPs	diseases
2	nsv832636	chr1:220139697-220294352	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	738 gene(s)	inside rSNPs	diseases
3	esv3362405	chr1:220199279-220202577	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:220164800-220200200	Strong transcription	Monocytes-CD14+_RO01746	blood
2	chr1:220165800-220200200	Strong transcription	Primary monocytes fromperipheralblood	blood
3	chr1:220166200-220200200	Strong transcription	Rectal Mucosa Donor 29	rectum
4	chr1:220166200-220208400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr1:220166200-220209000	Strong transcription	Primary T helper cells fromperipheralblood	blood
6	chr1:220166400-220200200	Strong transcription	HUES6 Cell Line	embryonic stem cell
7	chr1:220166400-220206800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
8	chr1:220166400-220210600	Strong transcription	Duodenum Mucosa	Duodenum
9	chr1:220166600-220200400	Strong transcription	Primary B cells from peripheral blood	blood
10	chr1:220166800-220208400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr1:220167200-220200200	Strong transcription	HUES48 Cell Line	embryonic stem cell
12	chr1:220167800-220211800	Weak transcription	Stomach Mucosa	stomach
13	chr1:220168400-220213800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
14	chr1:220169200-220206400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
15	chr1:220170400-220218600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr1:220172600-220218600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr1:220176000-220208000	Strong transcription	HUES64 Cell Line	embryonic stem cell
18	chr1:220176400-220208400	Strong transcription	Primary T helper cells PMA-I stimulated	--
19	chr1:220176600-220200200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
20	chr1:220177600-220205800	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr1:220178000-220217800	Weak transcription	Pancreas	Pancrea
22	chr1:220178200-220218600	Weak transcription	Right Ventricle	heart
23	chr1:220185800-220200200	Strong transcription	Fetal Thymus	thymus
24	chr1:220186200-220200200	Strong transcription	HSMM	muscle
25	chr1:220186600-220200000	Strong transcription	Adipose Nuclei	Adipose
26	chr1:220186600-220207800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr1:220186800-220200200	Strong transcription	Placenta	Placenta
28	chr1:220187200-220216800	Weak transcription	Fetal Heart	heart
29	chr1:220187400-220200400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr1:220187400-220216800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr1:220188200-220200000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr1:220189200-220208000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr1:220189600-220208400	Strong transcription	Primary T cells fromperipheralblood	blood
34	chr1:220190800-220200000	Strong transcription	Stomach Smooth Muscle	stomach
35	chr1:220190800-220200600	Strong transcription	Duodenum Smooth Muscle	Duodenum
36	chr1:220190800-220208400	Strong transcription	Liver	Liver
37	chr1:220190800-220210400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr1:220192400-220200200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
39	chr1:220192600-220200200	Strong transcription	HepG2	liver
40	chr1:220192600-220206800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
41	chr1:220193600-220202400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr1:220193600-220218600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr1:220194200-220203600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
44	chr1:220194400-220200200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr1:220194800-220206800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr1:220194800-220211600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr1:220194800-220211800	Weak transcription	Esophagus	oesophagus
48	chr1:220194800-220212200	Weak transcription	Aorta	Aorta
49	chr1:220195000-220203800	Weak transcription	Fetal Brain Female	brain
50	chr1:220195600-220202400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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