Variant report

Variant	rs139017225
Chromosome Location	chr1:63152284-63152285
allele	C/T
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	JUND	chr1:63151730-63152358	HepG2	liver:	n/a	chr1:63152176-63152185
2	RCOR1	chr1:63152200-63154891	IMR90	lung:	n/a	n/a
3	MXI1	chr1:63152116-63154856	SK-N-SH	brain:	n/a	n/a
4	JUN	chr1:63151737-63152356	HepG2	liver:	n/a	chr1:63152175-63152188 chr1:63152176-63152185

No.	Distal block	Cell Line	Cell type
1	chr1:63151590..63154458-chr1:63248689..63250715,2	K562	blood:
2	chr1:63144223..63146231-chr1:63150074..63152820,2	K562	blood:
3	chr1:63141617..63143983-chr1:63151351..63153918,2	MCF-7	breast:
4	chr1:63151590..63154458-chr1:63248689..63251365,3	K562	blood:
5	chr1:63146913..63149001-chr1:63152180..63153818,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000235545	TF binding region
ENSG00000125703	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1014376	chr1:62976472-63181359	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	esv2553332	chr1:63151211-63152937	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
3	esv5823	chr1:63151575-63152401	Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
4	esv2408644	chr1:63151630-63152369	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
5	esv5210	chr1:63151777-63152304	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:63112400-63152400	Weak transcription	Fetal Muscle Trunk	muscle
2	chr1:63113600-63152800	Weak transcription	Primary B cells from cord blood	blood
3	chr1:63138000-63153000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr1:63141400-63152600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr1:63142800-63152400	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr1:63143000-63152400	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr1:63143000-63153000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr1:63147600-63152600	Enhancers	Cortex derived primary cultured neurospheres	brain
9	chr1:63148200-63152600	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr1:63148400-63152600	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr1:63148600-63153000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr1:63148800-63152800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr1:63148800-63152800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr1:63149000-63152800	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr1:63149000-63152800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr1:63149600-63152600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr1:63150000-63153000	Enhancers	Liver	Liver
18	chr1:63150200-63152400	Enhancers	A549	lung
19	chr1:63150200-63152800	Enhancers	Adipose Nuclei	Adipose
20	chr1:63150200-63152800	Enhancers	Fetal Brain Male	brain
21	chr1:63150200-63153000	Enhancers	Fetal Lung	lung
22	chr1:63150400-63152400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr1:63150600-63152400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr1:63150600-63152400	Enhancers	NH-A	brain
25	chr1:63150600-63152800	Enhancers	Stomach Mucosa	stomach
26	chr1:63150800-63152600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr1:63150800-63152600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr1:63150800-63152600	Enhancers	Duodenum Mucosa	Duodenum
29	chr1:63150800-63152600	Enhancers	Fetal Intestine Small	intestine
30	chr1:63150800-63152600	Enhancers	HMEC	breast
31	chr1:63150800-63152800	Enhancers	Primary hematopoietic stem cells short term culture	blood
32	chr1:63150800-63152800	Enhancers	K562	blood
33	chr1:63150800-63153000	Enhancers	Fetal Heart	heart
34	chr1:63151000-63152400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr1:63151000-63152400	Weak transcription	Brain Angular Gyrus	brain
36	chr1:63151000-63152400	Enhancers	Dnd41	blood
37	chr1:63151000-63152600	Enhancers	Fetal Intestine Large	intestine
38	chr1:63151000-63153000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr1:63151200-63152800	Enhancers	HUVEC	blood vessel
40	chr1:63151200-63153000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
41	chr1:63151400-63152400	Enhancers	Breast Myoepithelial Primary Cells	Breast
42	chr1:63151400-63153000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
43	chr1:63151400-63153000	Enhancers	Rectal Mucosa Donor 31	rectum
44	chr1:63151600-63152400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr1:63151600-63152400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr1:63151600-63152400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr1:63151600-63152400	Active TSS	Brain Cingulate Gyrus	brain
48	chr1:63151600-63152400	Weak transcription	Brain Substantia Nigra	brain
49	chr1:63151600-63152400	Weak transcription	Fetal Kidney	kidney
50	chr1:63151600-63152400	Weak transcription	Fetal Muscle Leg	muscle

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