Variant report

Variant	rs550794295
Chromosome Location	chr1:93547447-93547448
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:93547200..93550185-chr1:93552218..93553883,2	K562	blood:
2	chr1:93546982..93548985-chr1:93566193..93568747,2	MCF-7	breast:
3	chr1:93543004..93547588-chr1:93644888..93649088,6	K562	blood:
4	chr1:93546586..93549487-chr1:93625233..93628392,3	K562	blood:

Variant related genes	Relation type
ENSG00000122483	Chromatin interaction
ENSG00000117500	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:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:93544000-93547600	Active TSS	H1 Cell Line	embryonic stem cell
2	chr1:93544000-93547600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr1:93544000-93548000	Active TSS	ES-I3 Cell Line	embryonic stem cell
4	chr1:93544200-93547600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr1:93544200-93548400	Active TSS	GM12878-XiMat	blood
6	chr1:93544400-93547800	Active TSS	Fetal Thymus	thymus
7	chr1:93544400-93547800	Active TSS	Thymus	Thymus
8	chr1:93545000-93547600	Flanking Active TSS	Primary B cells from cord blood	blood
9	chr1:93545200-93547600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
10	chr1:93545400-93548400	Flanking Active TSS	Primary hematopoietic stem cells	blood
11	chr1:93545600-93547600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr1:93545600-93547600	Active TSS	Brain Germinal Matrix	brain
13	chr1:93545600-93548000	Flanking Active TSS	Primary T cells from cord blood	blood
14	chr1:93545600-93548200	Active TSS	Fetal Brain Female	brain
15	chr1:93545800-93547800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr1:93545800-93547800	Weak transcription	Lung	lung
17	chr1:93545800-93549000	Enhancers	Primary neutrophils fromperipheralblood	blood
18	chr1:93545800-93551000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr1:93545800-93551000	Weak transcription	Left Ventricle	heart
20	chr1:93545800-93555400	Weak transcription	Spleen	Spleen
21	chr1:93545800-93563200	Weak transcription	Esophagus	oesophagus
22	chr1:93545800-93568000	Weak transcription	Gastric	stomach
23	chr1:93545800-93578400	Weak transcription	Pancreas	Pancrea
24	chr1:93546000-93547600	Enhancers	Brain Substantia Nigra	brain
25	chr1:93546000-93548000	Weak transcription	Small Intestine	intestine
26	chr1:93546000-93560600	Weak transcription	Placenta Amnion	Placenta Amnion
27	chr1:93546000-93573000	Weak transcription	Placenta	Placenta
28	chr1:93546200-93548000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr1:93546200-93549000	Enhancers	Primary monocytes fromperipheralblood	blood
30	chr1:93546200-93563200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr1:93546200-93602200	Weak transcription	Aorta	Aorta
32	chr1:93546400-93547600	Enhancers	Rectal Mucosa Donor 31	rectum
33	chr1:93546400-93547600	Enhancers	Rectal Smooth Muscle	rectum
34	chr1:93546400-93547600	Flanking Active TSS	NH-A	brain
35	chr1:93546400-93547600	Flanking Active TSS	NHEK	skin
36	chr1:93546400-93547800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr1:93546400-93547800	Flanking Active TSS	HUVEC	blood vessel
38	chr1:93546400-93548000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr1:93546400-93548200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr1:93546400-93548200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr1:93546400-93548800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
42	chr1:93546400-93549200	Weak transcription	Fetal Muscle Trunk	muscle
43	chr1:93546400-93550200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr1:93546400-93551000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr1:93546400-93553000	Weak transcription	Skeletal Muscle Male	skeletal muscle
46	chr1:93546400-93563200	Weak transcription	Psoas Muscle	Psoas
47	chr1:93546400-93567200	Weak transcription	Right Atrium	heart
48	chr1:93546400-93569400	Weak transcription	Ovary	ovary
49	chr1:93546600-93547600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
50	chr1:93546600-93547600	Flanking Active TSS	Liver	Liver

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