Variant report

Variant	rs577588873
Chromosome Location	chr1:212360914-212360915
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:212335240..212337640-chr1:212359354..212362015,2	K562	blood:
2	chr1:212360202..212362074-chr1:212367468..212369758,2	K562	blood:
3	chr1:212360558..212362622-chr1:212375645..212378227,2	K562	blood:
4	chr1:212359998..212362512-chr1:212365289..212368132,2	K562	blood:

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999738	chr1:212218618-212513690	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv1009376	chr1:212292357-212680320	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
3	nsv549139	chr1:212332294-212876902	Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Enhancers Active TSS 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	114 gene(s)	inside rSNPs	diseases
4	esv3414271	chr1:212360506-212360932	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:212353000-212361200	Weak transcription	Right Atrium	heart
2	chr1:212353200-212361200	Weak transcription	Lung	lung
3	chr1:212354200-212361200	Weak transcription	HMEC	breast
4	chr1:212355200-212361200	Weak transcription	Left Ventricle	heart
5	chr1:212356200-212361000	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr1:212357800-212361200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr1:212358000-212361200	Weak transcription	Placenta	Placenta
8	chr1:212358000-212362600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr1:212359400-212363400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr1:212359600-212361600	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr1:212359600-212362200	Enhancers	Primary T helper cells fromperipheralblood	blood
12	chr1:212359600-212362600	Enhancers	Primary B cells from peripheral blood	blood
13	chr1:212359600-212363000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
14	chr1:212359600-212363200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
15	chr1:212359600-212363200	Enhancers	Adipose Nuclei	Adipose
16	chr1:212359600-212363200	Enhancers	Spleen	Spleen
17	chr1:212359800-212362800	Enhancers	Primary T helper cells PMA-I stimulated	--
18	chr1:212360000-212362800	Weak transcription	Small Intestine	intestine
19	chr1:212360200-212361000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr1:212360200-212362400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
21	chr1:212360400-212361000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr1:212360400-212361800	Enhancers	Primary T killer memory cells from peripheral blood	blood
23	chr1:212360400-212362000	Enhancers	Fetal Thymus	thymus
24	chr1:212360400-212362400	Enhancers	Primary T cells from cord blood	blood
25	chr1:212360400-212363200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr1:212360400-212365600	Weak transcription	HepG2	liver
27	chr1:212360600-212361000	Weak transcription	Esophagus	oesophagus
28	chr1:212360600-212361000	Weak transcription	NHEK	skin
29	chr1:212360600-212361200	Weak transcription	Primary T cells fromperipheralblood	blood
30	chr1:212360600-212361400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
31	chr1:212360600-212361400	Weak transcription	Colonic Mucosa	Colon
32	chr1:212360600-212361400	Weak transcription	Stomach Mucosa	stomach
33	chr1:212360600-212361600	Enhancers	Monocytes-CD14+_RO01746	blood
34	chr1:212360600-212361800	Weak transcription	Primary neutrophils fromperipheralblood	blood
35	chr1:212360600-212362800	Enhancers	Skeletal Muscle Female	skeletal muscle
36	chr1:212360600-212363000	Enhancers	Primary T helper naive cells from peripheral blood	blood
37	chr1:212360600-212363000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
38	chr1:212360600-212363400	Weak transcription	Primary hematopoietic stem cells	blood
39	chr1:212360800-212361200	Weak transcription	Primary B cells from cord blood	blood
40	chr1:212360800-212361400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr1:212360800-212361800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
42	chr1:212360800-212362000	Enhancers	Fetal Muscle Trunk	muscle
43	chr1:212360800-212362000	Enhancers	GM12878-XiMat	blood

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