Variant report

Variant	rs542724870
Chromosome Location	chr1:93547400-93547401
allele	A/C
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:154 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:93543800-93547400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr1:93543800-93547400	Active TSS	Fetal Kidney	kidney
3	chr1:93544000-93547400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr1:93544000-93547400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr1:93544000-93547400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr1:93544000-93547600	Active TSS	H1 Cell Line	embryonic stem cell
7	chr1:93544000-93547600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr1:93544000-93548000	Active TSS	ES-I3 Cell Line	embryonic stem cell
9	chr1:93544200-93547400	Active TSS	Brain Anterior Caudate	brain
10	chr1:93544200-93547600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr1:93544200-93548400	Active TSS	GM12878-XiMat	blood
12	chr1:93544400-93547800	Active TSS	Fetal Thymus	thymus
13	chr1:93544400-93547800	Active TSS	Thymus	Thymus
14	chr1:93545000-93547600	Flanking Active TSS	Primary B cells from cord blood	blood
15	chr1:93545200-93547400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
16	chr1:93545200-93547600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
17	chr1:93545400-93547400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
18	chr1:93545400-93548400	Flanking Active TSS	Primary hematopoietic stem cells	blood
19	chr1:93545600-93547400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
20	chr1:93545600-93547600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr1:93545600-93547600	Active TSS	Brain Germinal Matrix	brain
22	chr1:93545600-93548000	Flanking Active TSS	Primary T cells from cord blood	blood
23	chr1:93545600-93548200	Active TSS	Fetal Brain Female	brain
24	chr1:93545800-93547400	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
25	chr1:93545800-93547800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr1:93545800-93547800	Weak transcription	Lung	lung
27	chr1:93545800-93549000	Enhancers	Primary neutrophils fromperipheralblood	blood
28	chr1:93545800-93551000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr1:93545800-93551000	Weak transcription	Left Ventricle	heart
30	chr1:93545800-93555400	Weak transcription	Spleen	Spleen
31	chr1:93545800-93563200	Weak transcription	Esophagus	oesophagus
32	chr1:93545800-93568000	Weak transcription	Gastric	stomach
33	chr1:93545800-93578400	Weak transcription	Pancreas	Pancrea
34	chr1:93546000-93547600	Enhancers	Brain Substantia Nigra	brain
35	chr1:93546000-93548000	Weak transcription	Small Intestine	intestine
36	chr1:93546000-93560600	Weak transcription	Placenta Amnion	Placenta Amnion
37	chr1:93546000-93573000	Weak transcription	Placenta	Placenta
38	chr1:93546200-93548000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr1:93546200-93549000	Enhancers	Primary monocytes fromperipheralblood	blood
40	chr1:93546200-93563200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr1:93546200-93602200	Weak transcription	Aorta	Aorta
42	chr1:93546400-93547400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
43	chr1:93546400-93547400	Enhancers	Brain Cingulate Gyrus	brain
44	chr1:93546400-93547400	Flanking Active TSS	Osteobl	bone
45	chr1:93546400-93547600	Enhancers	Rectal Mucosa Donor 31	rectum
46	chr1:93546400-93547600	Enhancers	Rectal Smooth Muscle	rectum
47	chr1:93546400-93547600	Flanking Active TSS	NH-A	brain
48	chr1:93546400-93547600	Flanking Active TSS	NHEK	skin
49	chr1:93546400-93547800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr1:93546400-93547800	Flanking Active TSS	HUVEC	blood vessel

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