Variant report

Variant	rs550094285
Chromosome Location	chr4:48653617-48653618
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:48652921..48654969-chr4:48656237..48658200,2	K562	blood:
2	chr4:48652508..48655525-chr4:48656294..48658905,3	K562	blood:

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	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
2	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
3	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
4	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
5	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
6	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
7	nsv999203	chr4:48645887-48735512	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	esv1802666	chr4:48646594-48721327	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	nsv1013914	chr4:48652784-48728934	Genic enhancers Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
10	nsv537090	chr4:48652784-48728934	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:48621200-48729400	Weak transcription	Thymus	Thymus
2	chr4:48621800-48655800	Weak transcription	Colonic Mucosa	Colon
3	chr4:48627200-48656400	Weak transcription	Fetal Intestine Small	intestine
4	chr4:48635200-48654000	Weak transcription	Fetal Intestine Large	intestine
5	chr4:48635200-48655000	Weak transcription	Dnd41	blood
6	chr4:48637600-48656400	Weak transcription	Primary T cells fromperipheralblood	blood
7	chr4:48637800-48664200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr4:48638000-48653800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr4:48638000-48655400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr4:48638000-48655600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr4:48638000-48657200	Weak transcription	Primary neutrophils fromperipheralblood	blood
12	chr4:48638000-48663000	Weak transcription	Primary monocytes fromperipheralblood	blood
13	chr4:48638000-48664600	Weak transcription	Primary B cells from peripheral blood	blood
14	chr4:48638400-48686200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr4:48638600-48655400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr4:48638600-48666000	Weak transcription	Primary B cells from cord blood	blood
17	chr4:48642200-48654800	Weak transcription	Stomach Mucosa	stomach
18	chr4:48643000-48655200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr4:48643200-48655600	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr4:48644000-48655600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr4:48645000-48653800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr4:48645200-48679400	Weak transcription	Rectal Smooth Muscle	rectum
23	chr4:48645400-48654000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
24	chr4:48645400-48655200	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr4:48645400-48655200	Weak transcription	NH-A	brain
26	chr4:48645400-48655400	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr4:48645400-48655400	Weak transcription	NHLF	lung
28	chr4:48645400-48655800	Weak transcription	Lung	lung
29	chr4:48645400-48656000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr4:48645400-48656400	Weak transcription	Fetal Stomach	stomach
31	chr4:48645400-48656400	Weak transcription	Spleen	Spleen
32	chr4:48645400-48663400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr4:48645400-48664200	Weak transcription	Fetal Muscle Leg	muscle
34	chr4:48645600-48655400	Weak transcription	Small Intestine	intestine
35	chr4:48645600-48664200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr4:48647400-48655600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
37	chr4:48647800-48654800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
38	chr4:48648400-48654000	Weak transcription	Primary T helper cells fromperipheralblood	blood
39	chr4:48648800-48669200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
40	chr4:48649200-48655200	Weak transcription	Skeletal Muscle Female	skeletal muscle
41	chr4:48650600-48653800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr4:48650600-48655600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
43	chr4:48650600-48656400	Weak transcription	Esophagus	oesophagus
44	chr4:48650800-48654000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
45	chr4:48651600-48654800	Weak transcription	GM12878-XiMat	blood
46	chr4:48651800-48653800	Weak transcription	Fetal Kidney	kidney
47	chr4:48652000-48655800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr4:48652200-48654400	Enhancers	Fetal Lung	lung
49	chr4:48652400-48653800	Enhancers	Right Atrium	heart
50	chr4:48652400-48654000	Strong transcription	Rectal Mucosa Donor 31	rectum

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