Variant report

Variant	rs548147428
Chromosome Location	chr5:37116792-37116793
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:37112874..37116886-chr5:37117758..37121364,3	K562	blood:

Extended variants
information (count: 15 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv525478	chr5:36804225-37349895	Strong transcription Transcr. at gene 5' and 3' Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	esv1793961	chr5:36866835-37361728	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
3	nsv530225	chr5:36886635-37331912	Weak transcription Strong transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
4	nsv1024051	chr5:36899712-37303001	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
5	nsv537725	chr5:36899712-37303001	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
6	nsv530226	chr5:36906377-37606367	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
7	esv1802391	chr5:36958598-37242600	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
8	nsv597822	chr5:36997953-37147152	Strong transcription Enhancers Weak transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
9	nsv534064	chr5:37054962-37586210	Active TSS Strong transcription Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
10	nsv881511	chr5:37088627-37552852	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
11	nsv597823	chr5:37111565-37430365	Strong transcription Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
12	nsv1026554	chr5:37112133-37734859	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
13	nsv537726	chr5:37112133-37734859	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
14	nsv1025988	chr5:37115142-37586211	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
15	nsv537727	chr5:37115142-37586211	Strong transcription Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:37082800-37169200	Weak transcription	Spleen	Spleen
2	chr5:37102600-37121600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr5:37103600-37135400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr5:37103800-37143200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr5:37105200-37119000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
6	chr5:37105400-37120200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr5:37105400-37136400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr5:37105800-37156200	Weak transcription	NHLF	lung
9	chr5:37106000-37143400	Weak transcription	HepG2	liver
10	chr5:37106200-37150200	Weak transcription	NHEK	skin
11	chr5:37107000-37122000	Strong transcription	Fetal Muscle Leg	muscle
12	chr5:37107000-37122600	Strong transcription	Fetal Muscle Trunk	muscle
13	chr5:37108200-37117800	Weak transcription	Esophagus	oesophagus
14	chr5:37108200-37143800	Weak transcription	Gastric	stomach
15	chr5:37108600-37117000	Weak transcription	Pancreas	Pancrea
16	chr5:37108600-37126400	Weak transcription	Lung	lung
17	chr5:37108600-37128200	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr5:37108600-37139600	Weak transcription	Right Ventricle	heart
19	chr5:37109200-37117800	Weak transcription	Colonic Mucosa	Colon
20	chr5:37109600-37136400	Weak transcription	Brain Angular Gyrus	brain
21	chr5:37109600-37137800	Weak transcription	Rectal Smooth Muscle	rectum
22	chr5:37110000-37118600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr5:37110400-37125800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr5:37110800-37120400	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr5:37111400-37121800	Strong transcription	Stomach Smooth Muscle	stomach
26	chr5:37111400-37122200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr5:37111600-37117800	Strong transcription	Muscle Satellite Cultured Cells	--
28	chr5:37111800-37117000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr5:37111800-37122600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr5:37112000-37118600	Strong transcription	Skeletal Muscle Male	skeletal muscle
31	chr5:37112000-37122400	Strong transcription	Skeletal Muscle Female	skeletal muscle
32	chr5:37112200-37198200	Weak transcription	Small Intestine	intestine
33	chr5:37112400-37121800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr5:37112400-37122200	Strong transcription	HSMMtube	muscle
35	chr5:37112400-37122200	Strong transcription	Osteobl	bone
36	chr5:37112600-37118400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr5:37112800-37117200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr5:37112800-37121000	Strong transcription	Fetal Intestine Large	intestine
39	chr5:37112800-37121400	Weak transcription	Fetal Heart	heart
40	chr5:37112800-37142800	Weak transcription	Brain Cingulate Gyrus	brain
41	chr5:37113000-37118000	Strong transcription	Cortex derived primary cultured neurospheres	brain
42	chr5:37113000-37121200	Weak transcription	Primary monocytes fromperipheralblood	blood
43	chr5:37113000-37121600	Weak transcription	Monocytes-CD14+_RO01746	blood
44	chr5:37113000-37123000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
45	chr5:37113000-37123000	Strong transcription	Fetal Stomach	stomach
46	chr5:37113000-37137800	Weak transcription	HUVEC	blood vessel
47	chr5:37113200-37118400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr5:37113200-37121400	Strong transcription	Fetal Intestine Small	intestine
49	chr5:37113200-37123400	Strong transcription	Fetal Lung	lung
50	chr5:37113200-37126800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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