Variant report

Variant	rs530990938
Chromosome Location	chr1:214638238-214638239
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr1:214637855-214638246	K562	blood:	n/a	n/a
2	MAX	chr1:214637685-214638293	K562	blood:	n/a	n/a
3	CTCF	chr1:214637959-214638302	K562	blood:	n/a	n/a

Variant related genes	Relation type
PTPN14	TF binding region

Extended variants
information (count: 1 )
Associated
traits (count: 0)

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv275028	chr1:214637808-214639253	Genic enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:214613000-214649400	Weak transcription	Lung	lung
2	chr1:214621000-214639800	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr1:214625800-214644800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr1:214627200-214640000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr1:214628600-214640600	Weak transcription	Right Atrium	heart
6	chr1:214628800-214639400	Weak transcription	Stomach Mucosa	stomach
7	chr1:214629200-214644800	Weak transcription	Psoas Muscle	Psoas
8	chr1:214634000-214638600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr1:214634200-214640000	Weak transcription	Fetal Kidney	kidney
10	chr1:214634400-214639800	Weak transcription	Fetal Lung	lung
11	chr1:214634400-214639800	Weak transcription	A549	lung
12	chr1:214634400-214640000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr1:214634400-214644400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr1:214634400-214645000	Weak transcription	HUVEC	blood vessel
15	chr1:214634400-214646200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr1:214634800-214640000	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr1:214635000-214638400	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr1:214635000-214638600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr1:214635200-214638400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr1:214635800-214645000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr1:214636000-214638600	Strong transcription	NHLF	lung
22	chr1:214636200-214640600	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr1:214636400-214638600	Enhancers	Fetal Heart	heart
24	chr1:214636800-214638400	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr1:214636800-214638400	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr1:214636800-214638400	Genic enhancers	HSMM	muscle
27	chr1:214636800-214638600	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr1:214636800-214638600	Genic enhancers	NHEK	skin
29	chr1:214637000-214638400	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr1:214637000-214638800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr1:214637000-214639800	Weak transcription	NH-A	brain
32	chr1:214637000-214640200	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr1:214637200-214639800	Weak transcription	Fetal Muscle Leg	muscle
34	chr1:214637200-214640000	Weak transcription	NHDF-Ad	bronchial
35	chr1:214637200-214645000	Weak transcription	Esophagus	oesophagus
36	chr1:214637400-214639600	Weak transcription	Placenta Amnion	Placenta Amnion
37	chr1:214637400-214641400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr1:214637600-214638400	Genic enhancers	Fetal Stomach	stomach
39	chr1:214637800-214638400	Enhancers	Placenta	Placenta
40	chr1:214637800-214638400	Genic enhancers	Right Ventricle	heart
41	chr1:214637800-214638400	Flanking Active TSS	K562	blood
42	chr1:214637800-214638800	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
43	chr1:214637800-214640800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr1:214638000-214638400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr1:214638000-214638400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr1:214638000-214638400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr1:214638000-214638600	Enhancers	HMEC	breast
48	chr1:214638000-214639800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
49	chr1:214638000-214639800	Weak transcription	HUES64 Cell Line	embryonic stem cell
50	chr1:214638200-214638400	Enhancers	Gastric	stomach

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