Variant report

Variant	rs575421561
Chromosome Location	chr4:48581099-48581100
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	SMC3	chr4:48580192-48581284	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr4:48579844..48581461-chr4:48964715..48966249,12	MCF-7	breast:
2	chr4:48580560..48583320-chr4:48586437..48588078,2	K562	blood:
3	chr4:48579352..48581122-chr4:48952741..48955150,2	K562	blood:

Variant related genes	Relation type
RNU5E-3P	TF binding region

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	nsv470034	chr4:48427773-48605628	Strong transcription Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
2	nsv594121	chr4:48427773-48605628	Bivalent/Poised TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
3	nsv829925	chr4:48467693-48639342	Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv1002674	chr4:48507608-49032909	Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
5	nsv537087	chr4:48507608-49032909	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
6	nsv1010923	chr4:48575156-49083089	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
7	nsv537088	chr4:48575156-49083089	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
8	nsv966557	chr4:48577320-48618907	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
9	nsv1013762	chr4:48580484-49032909	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
10	nsv537089	chr4:48580484-49032909	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:48498600-48593000	Strong transcription	Rectal Mucosa Donor 31	rectum
2	chr4:48499000-48589400	Strong transcription	Primary monocytes fromperipheralblood	blood
3	chr4:48499600-48581400	Strong transcription	Dnd41	blood
4	chr4:48500200-48588800	Strong transcription	Monocytes-CD14+_RO01746	blood
5	chr4:48515800-48625000	Weak transcription	Hela-S3	cervix
6	chr4:48525000-48595600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr4:48528200-48596000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr4:48541000-48587800	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr4:48541200-48594000	Strong transcription	Rectal Mucosa Donor 29	rectum
10	chr4:48541400-48581200	Strong transcription	Primary T cells fromperipheralblood	blood
11	chr4:48541600-48581400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr4:48542800-48604400	Weak transcription	A549	lung
13	chr4:48545200-48618200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr4:48546400-48596400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr4:48547400-48593600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr4:48556000-48581400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr4:48557800-48622400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr4:48559800-48604400	Weak transcription	HepG2	liver
19	chr4:48561200-48581200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr4:48561400-48604400	Weak transcription	Stomach Mucosa	stomach
21	chr4:48562600-48596600	Weak transcription	Fetal Brain Male	brain
22	chr4:48562800-48590400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr4:48562800-48623200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr4:48563000-48637400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr4:48563200-48587000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr4:48563400-48593600	Weak transcription	Spleen	Spleen
27	chr4:48566600-48587600	Weak transcription	Colon Smooth Muscle	Colon
28	chr4:48572600-48582600	Weak transcription	Brain Germinal Matrix	brain
29	chr4:48573200-48586200	Weak transcription	Psoas Muscle	Psoas
30	chr4:48573200-48590000	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr4:48573200-48604600	Weak transcription	NHLF	lung
32	chr4:48573200-48605600	Weak transcription	Pancreas	Pancrea
33	chr4:48573200-48605600	Weak transcription	Small Intestine	intestine
34	chr4:48573800-48590000	Weak transcription	H1 Cell Line	embryonic stem cell
35	chr4:48574000-48584400	Weak transcription	Fetal Heart	heart
36	chr4:48575000-48582800	Weak transcription	Placenta Amnion	Placenta Amnion
37	chr4:48575000-48586400	Weak transcription	Left Ventricle	heart
38	chr4:48575000-48590000	Weak transcription	Right Ventricle	heart
39	chr4:48575000-48590400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
40	chr4:48575200-48582800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr4:48575200-48584400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
42	chr4:48575200-48586200	Weak transcription	NHDF-Ad	bronchial
43	chr4:48575200-48643000	Weak transcription	HSMMtube	muscle
44	chr4:48575400-48582400	Weak transcription	Brain Angular Gyrus	brain
45	chr4:48575400-48583400	Weak transcription	Fetal Brain Female	brain
46	chr4:48576400-48589000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr4:48577000-48581200	Strong transcription	Primary T cells from cord blood	blood
48	chr4:48577400-48583400	Weak transcription	NH-A	brain
49	chr4:48577600-48583000	Weak transcription	Brain Cingulate Gyrus	brain
50	chr4:48577800-48582400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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