Variant report

Variant	rs529075222
Chromosome Location	chr5:14873338-14873339
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	PAX5	chr5:14873272-14873439	GM12891	blood:	n/a	n/a
2	POLR2A	chr5:14871370-14873359	Hela-S3	cervix:	n/a	n/a
3	POLR2A	chr5:14872789-14873422	MCF10A-Er-Src	breast:	n/a	n/a
4	MAZ	chr5:14872888-14873343	HepG2	liver:	n/a	n/a
5	ELF1	chr5:14873281-14873515	HepG2	liver:	n/a	n/a
6	CEBPB	chr5:14873320-14873352	H1-hESC	embryonic stem cell:	n/a	n/a
7	MXI1	chr5:14869184-14873385	SK-N-SH	brain:	n/a	chr5:14869848-14869857
8	ELF1	chr5:14873264-14873565	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:14870499..14873628-chr5:14876677..14878722,3	MCF-7	breast:
2	chr5:14870615..14876771-chr5:14877137..14881397,9	MCF-7	breast:
3	chr5:14871623..14873903-chr5:14874758..14876587,2	K562	blood:
4	chr5:14872363..14873864-chr6:26021710..26023410,2	MCF-7	breast:

Variant related genes	Relation type
ANKH	TF binding region
ENSG00000249928	Chromatin interaction
ENSG00000196176	Chromatin interaction
ENSG00000250662	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1018187	chr5:14385164-15127103	Strong transcription Flanking Bivalent TSS/Enh Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	nsv830212	chr5:14784197-14966683	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
3	esv2753381	chr5:14814900-14882800	Strong transcription Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
4	esv2755533	chr5:14814900-14882800	Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
5	esv2755538	chr5:14814900-14927500	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
6	nsv530221	chr5:14859687-15364470	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
7	nsv969946	chr5:14867971-14880715	Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
8	nsv597258	chr5:14871848-14875868	Active TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
9	nsv597259	chr5:14871900-14875868	Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
10	esv1833901	chr5:14871952-14884822	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:14870200-14873400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
2	chr5:14870800-14873400	Active TSS	Primary T killer naive cells fromperipheralblood	blood
3	chr5:14870800-14873400	Active TSS	Fetal Brain Female	brain
4	chr5:14870800-14873400	Active TSS	Thymus	Thymus
5	chr5:14872400-14873400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
6	chr5:14872400-14873400	Flanking Active TSS	Primary B cells from cord blood	blood
7	chr5:14872400-14873400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr5:14872400-14873600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr5:14872600-14873400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr5:14872600-14873400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
11	chr5:14872600-14873400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
12	chr5:14872600-14873400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
13	chr5:14872600-14873400	Flanking Active TSS	Adipose Nuclei	Adipose
14	chr5:14872800-14873400	Flanking Active TSS	Liver	Liver
15	chr5:14872800-14873400	Flanking Active TSS	Dnd41	blood
16	chr5:14872800-14873400	Flanking Active TSS	Hela-S3	cervix
17	chr5:14873000-14873400	Flanking Active TSS	Primary T cells from cord blood	blood
18	chr5:14873000-14873400	Enhancers	Primary T killer memory cells from peripheral blood	blood
19	chr5:14873000-14873400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr5:14873000-14873400	Flanking Active TSS	Duodenum Mucosa	Duodenum
21	chr5:14873000-14873600	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
22	chr5:14873000-14876200	Weak transcription	Aorta	Aorta
23	chr5:14873000-14882000	Weak transcription	Psoas Muscle	Psoas
24	chr5:14873200-14873400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr5:14873200-14873400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
26	chr5:14873200-14873400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr5:14873200-14873400	Enhancers	Breast Myoepithelial Primary Cells	Breast
28	chr5:14873200-14873400	Enhancers	Primary hematopoietic stem cells	blood
29	chr5:14873200-14873400	Enhancers	Primary hematopoietic stem cells short term culture	blood
30	chr5:14873200-14873400	Enhancers	Primary T helper naive cells from peripheral blood	blood
31	chr5:14873200-14873400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
32	chr5:14873200-14873400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
33	chr5:14873200-14873400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
34	chr5:14873200-14873400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr5:14873200-14873400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
36	chr5:14873200-14873400	Enhancers	Fetal Intestine Large	intestine
37	chr5:14873200-14873400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
38	chr5:14873200-14873400	Enhancers	Rectal Mucosa Donor 31	rectum
39	chr5:14873200-14873400	Enhancers	Skeletal Muscle Male	skeletal muscle
40	chr5:14873200-14873400	Enhancers	A549	lung
41	chr5:14873200-14873400	Flanking Active TSS	HepG2	liver
42	chr5:14873200-14873400	Enhancers	HUVEC	blood vessel
43	chr5:14873200-14873400	Enhancers	NH-A	brain
44	chr5:14873200-14873600	Enhancers	Primary B cells from peripheral blood	blood
45	chr5:14873200-14873600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
46	chr5:14873200-14873600	Enhancers	Placenta Amnion	Placenta Amnion
47	chr5:14873200-14873800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr5:14873200-14873800	Enhancers	Fetal Intestine Small	intestine
49	chr5:14873200-14873800	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
50	chr5:14873200-14874000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood

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