Variant report

Variant	rs527535915
Chromosome Location	chr1:93547944-93547945
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:93544774..93547373-chr1:93547671..93549530,3	K562	blood:
2	chr1:93547200..93550185-chr1:93552218..93553883,2	K562	blood:
3	chr1:93546982..93548985-chr1:93566193..93568747,2	MCF-7	breast:
4	chr1:93546586..93549487-chr1:93625233..93628392,3	K562	blood:

Variant related genes	Relation type
ENSG00000143033	Chromatin interaction

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	nsv1008602	chr1:93176811-93640808	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv830614	chr1:93465978-93678700	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv508404	chr1:93547383-93580012	Weak transcription Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:93544000-93548000	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr1:93544200-93548400	Active TSS	GM12878-XiMat	blood
3	chr1:93545400-93548400	Flanking Active TSS	Primary hematopoietic stem cells	blood
4	chr1:93545600-93548000	Flanking Active TSS	Primary T cells from cord blood	blood
5	chr1:93545600-93548200	Active TSS	Fetal Brain Female	brain
6	chr1:93545800-93549000	Enhancers	Primary neutrophils fromperipheralblood	blood
7	chr1:93545800-93551000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr1:93545800-93551000	Weak transcription	Left Ventricle	heart
9	chr1:93545800-93555400	Weak transcription	Spleen	Spleen
10	chr1:93545800-93563200	Weak transcription	Esophagus	oesophagus
11	chr1:93545800-93568000	Weak transcription	Gastric	stomach
12	chr1:93545800-93578400	Weak transcription	Pancreas	Pancrea
13	chr1:93546000-93548000	Weak transcription	Small Intestine	intestine
14	chr1:93546000-93560600	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr1:93546000-93573000	Weak transcription	Placenta	Placenta
16	chr1:93546200-93548000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr1:93546200-93549000	Enhancers	Primary monocytes fromperipheralblood	blood
18	chr1:93546200-93563200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr1:93546200-93602200	Weak transcription	Aorta	Aorta
20	chr1:93546400-93548000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr1:93546400-93548200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr1:93546400-93548200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr1:93546400-93548800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
24	chr1:93546400-93549200	Weak transcription	Fetal Muscle Trunk	muscle
25	chr1:93546400-93550200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr1:93546400-93551000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr1:93546400-93553000	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr1:93546400-93563200	Weak transcription	Psoas Muscle	Psoas
29	chr1:93546400-93567200	Weak transcription	Right Atrium	heart
30	chr1:93546400-93569400	Weak transcription	Ovary	ovary
31	chr1:93546600-93548000	Transcr. at gene 5' and 3'	HUES64 Cell Line	embryonic stem cell
32	chr1:93546600-93548000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
33	chr1:93546600-93550400	Transcr. at gene 5' and 3'	Dnd41	blood
34	chr1:93546600-93559000	Weak transcription	H9 Cell Line	embryonic stem cell
35	chr1:93546800-93556800	Weak transcription	Stomach Smooth Muscle	stomach
36	chr1:93547000-93548200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr1:93547000-93550800	Weak transcription	Fetal Stomach	stomach
38	chr1:93547200-93548200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr1:93547200-93548400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr1:93547200-93549000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
41	chr1:93547200-93549000	Enhancers	Sigmoid Colon	Sigmoid Colon
42	chr1:93547200-93549200	Enhancers	Primary T helper naive cells from peripheral blood	blood
43	chr1:93547200-93553200	Weak transcription	Fetal Heart	heart
44	chr1:93547200-93559000	Weak transcription	Brain Hippocampus Middle	brain
45	chr1:93547200-93576800	Weak transcription	Skeletal Muscle Female	skeletal muscle
46	chr1:93547400-93548000	Enhancers	HSMM	muscle
47	chr1:93547400-93548000	Enhancers	NHDF-Ad	bronchial
48	chr1:93547400-93548200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr1:93547400-93548200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr1:93547400-93548200	Enhancers	Osteobl	bone

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