Variant report

Variant	rs73814781
Chromosome Location	chr4:48524468-48524469
allele	A/C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:48518871..48522013-chr4:48524395..48528257,3	K562	blood:

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs10517225	1.00[AFR][1000 genomes]
rs12505376	1.00[AFR][1000 genomes]
rs12508327	1.00[AFR][1000 genomes]

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	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

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:48496200-48540600	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr4:48498200-48539600	Strong transcription	Rectal Mucosa Donor 29	rectum
3	chr4:48498200-48540000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr4:48498600-48593000	Strong transcription	Rectal Mucosa Donor 31	rectum
5	chr4:48499000-48578800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr4:48499000-48589400	Strong transcription	Primary monocytes fromperipheralblood	blood
7	chr4:48499200-48540000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr4:48499400-48527400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr4:48499600-48581400	Strong transcription	Dnd41	blood
10	chr4:48499800-48540000	Strong transcription	Primary T cells fromperipheralblood	blood
11	chr4:48500200-48588800	Strong transcription	Monocytes-CD14+_RO01746	blood
12	chr4:48500400-48540000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr4:48501000-48538800	Strong transcription	Primary neutrophils fromperipheralblood	blood
14	chr4:48501400-48578600	Strong transcription	Primary T helper cells fromperipheralblood	blood
15	chr4:48504400-48575400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr4:48504600-48534400	Strong transcription	Liver	Liver
17	chr4:48505200-48575400	Strong transcription	Primary T helper cells PMA-I stimulated	--
18	chr4:48505400-48538600	Strong transcription	HUES64 Cell Line	embryonic stem cell
19	chr4:48505400-48540000	Strong transcription	HSMM	muscle
20	chr4:48506000-48538800	Strong transcription	Duodenum Mucosa	Duodenum
21	chr4:48507200-48564000	Strong transcription	Fetal Thymus	thymus
22	chr4:48507400-48536200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr4:48507600-48568600	Strong transcription	Primary T cells from cord blood	blood
24	chr4:48507800-48539400	Strong transcription	Primary B cells from cord blood	blood
25	chr4:48508800-48538800	Strong transcription	Primary hematopoietic stem cells	blood
26	chr4:48509400-48540000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
27	chr4:48510600-48525000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr4:48510600-48538800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr4:48512200-48525600	Strong transcription	Brain Anterior Caudate	brain
30	chr4:48512200-48542400	Weak transcription	Stomach Mucosa	stomach
31	chr4:48512200-48545000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr4:48512400-48533400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr4:48514800-48529600	Weak transcription	A549	lung
34	chr4:48515800-48625000	Weak transcription	Hela-S3	cervix
35	chr4:48518000-48533400	Strong transcription	Sigmoid Colon	Sigmoid Colon
36	chr4:48518400-48538400	Strong transcription	Adipose Nuclei	Adipose
37	chr4:48519000-48533400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr4:48519200-48525400	Strong transcription	Placenta	Placenta
39	chr4:48519400-48539000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr4:48519400-48539000	Strong transcription	Primary B cells from peripheral blood	blood
41	chr4:48519400-48566200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
42	chr4:48519600-48530200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr4:48519800-48525200	Strong transcription	Osteobl	bone
44	chr4:48519800-48538800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
45	chr4:48519800-48539600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr4:48520000-48525200	Strong transcription	Brain Germinal Matrix	brain
47	chr4:48520000-48525200	Strong transcription	Ovary	ovary
48	chr4:48520000-48525800	Strong transcription	Brain Inferior Temporal Lobe	brain
49	chr4:48520000-48533600	Strong transcription	Duodenum Smooth Muscle	Duodenum
50	chr4:48520000-48533600	Strong transcription	Stomach Smooth Muscle	stomach

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