Variant report

Variant	rs530136781
Chromosome Location	chr4:47526234-47526235
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv879005	chr4:47408838-47548254	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv829923	chr4:47436139-47678443	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats 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 miRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	nsv1008515	chr4:47488431-47906835	Weak transcription Strong transcription Flanking Bivalent TSS/Enh Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv948568	chr4:47488431-47907524	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
5	nsv1004939	chr4:47488573-47901460	Bivalent Enhancer Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
6	nsv537080	chr4:47488573-47901460	Weak transcription Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
7	nsv997471	chr4:47489412-47895223	Weak transcription Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
8	nsv998892	chr4:47493552-47863354	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
9	nsv537081	chr4:47493552-47863354	Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
10	nsv1000337	chr4:47493907-47902019	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
11	nsv528326	chr4:47525054-47533838	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
12	nsv879006	chr4:47525054-47555196	Strong transcription Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:47488000-47533800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr4:47488800-47559800	Weak transcription	Right Ventricle	heart
3	chr4:47489200-47533600	Weak transcription	Esophagus	oesophagus
4	chr4:47501000-47527600	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr4:47502200-47533000	Weak transcription	Rectal Smooth Muscle	rectum
6	chr4:47507800-47526400	Weak transcription	NHDF-Ad	bronchial
7	chr4:47507800-47527800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr4:47512200-47536800	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr4:47512400-47530200	Weak transcription	Fetal Brain Male	brain
10	chr4:47512400-47577200	Weak transcription	Small Intestine	intestine
11	chr4:47512800-47532600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr4:47513000-47527600	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr4:47513600-47533200	Weak transcription	Brain Substantia Nigra	brain
14	chr4:47513800-47530600	Weak transcription	Fetal Heart	heart
15	chr4:47513800-47534000	Weak transcription	Brain Hippocampus Middle	brain
16	chr4:47514000-47531400	Weak transcription	Brain Anterior Caudate	brain
17	chr4:47514000-47551000	Weak transcription	Gastric	stomach
18	chr4:47514200-47533800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr4:47515800-47527800	Weak transcription	Aorta	Aorta
20	chr4:47515800-47530000	Weak transcription	Primary T cells from cord blood	blood
21	chr4:47515800-47531200	Weak transcription	Colon Smooth Muscle	Colon
22	chr4:47515800-47533800	Weak transcription	Brain Cingulate Gyrus	brain
23	chr4:47515800-47533800	Weak transcription	Lung	lung
24	chr4:47516000-47527400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr4:47516000-47529600	Weak transcription	Fetal Muscle Leg	muscle
26	chr4:47516000-47534000	Weak transcription	Stomach Mucosa	stomach
27	chr4:47516200-47527800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr4:47516400-47547800	Weak transcription	Ovary	ovary
29	chr4:47516400-47548200	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr4:47516600-47527800	Weak transcription	Fetal Intestine Large	intestine
31	chr4:47517800-47528800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr4:47518000-47526400	Weak transcription	NHEK	skin
33	chr4:47518000-47527200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr4:47518000-47527800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr4:47518000-47544800	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr4:47520400-47533600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
37	chr4:47521800-47532800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
38	chr4:47521800-47533200	Weak transcription	Spleen	Spleen
39	chr4:47522000-47526400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr4:47522000-47531000	Strong transcription	Placenta	Placenta
41	chr4:47522000-47533000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
42	chr4:47522200-47526400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr4:47522200-47530200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
44	chr4:47522400-47526400	Strong transcription	HSMM	muscle
45	chr4:47522400-47533400	Strong transcription	Monocytes-CD14+_RO01746	blood
46	chr4:47522600-47531400	Strong transcription	Dnd41	blood
47	chr4:47523000-47526400	Strong transcription	Osteobl	bone
48	chr4:47523000-47526600	Strong transcription	HSMMtube	muscle
49	chr4:47523000-47526800	Strong transcription	NH-A	brain
50	chr4:47523000-47532400	Strong transcription	Primary monocytes fromperipheralblood	blood

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