Variant report

Variant	rs572067288
Chromosome Location	chr5:37112011-37112012
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	chr5:36876575..36878094-chr5:37110631..37112671,2	K562	blood:

Variant related genes	Relation type
ENSG00000164190	Chromatin interaction

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	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	nsv917880	chr5:36948778-37115342	Genic enhancers Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
8	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
9	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
10	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
11	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
12	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

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:37082800-37169200	Weak transcription	Spleen	Spleen
2	chr5:37087200-37113600	Weak transcription	NH-A	brain
3	chr5:37101200-37115000	Weak transcription	A549	lung
4	chr5:37101400-37113400	Weak transcription	Brain Substantia Nigra	brain
5	chr5:37102200-37114400	Weak transcription	HMEC	breast
6	chr5:37102600-37115800	Strong transcription	HSMM	muscle
7	chr5:37102600-37121600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr5:37102800-37112200	Weak transcription	HUVEC	blood vessel
9	chr5:37102800-37114200	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr5:37103000-37113200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr5:37103600-37115800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr5:37103600-37135400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr5:37103800-37113600	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr5:37103800-37143200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr5:37104800-37113400	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr5:37105200-37119000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
17	chr5:37105400-37113200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr5:37105400-37113400	Weak transcription	Fetal Kidney	kidney
19	chr5:37105400-37114200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr5:37105400-37114800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr5:37105400-37120200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr5:37105400-37136400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr5:37105800-37156200	Weak transcription	NHLF	lung
24	chr5:37106000-37143400	Weak transcription	HepG2	liver
25	chr5:37106200-37150200	Weak transcription	NHEK	skin
26	chr5:37107000-37115400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr5:37107000-37122000	Strong transcription	Fetal Muscle Leg	muscle
28	chr5:37107000-37122600	Strong transcription	Fetal Muscle Trunk	muscle
29	chr5:37108000-37112800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr5:37108200-37113200	Weak transcription	Brain Hippocampus Middle	brain
31	chr5:37108200-37117800	Weak transcription	Esophagus	oesophagus
32	chr5:37108200-37143800	Weak transcription	Gastric	stomach
33	chr5:37108600-37112600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr5:37108600-37113000	Weak transcription	Fetal Stomach	stomach
35	chr5:37108600-37113200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr5:37108600-37113400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr5:37108600-37113400	Weak transcription	Ovary	ovary
38	chr5:37108600-37113600	Weak transcription	Primary B cells from cord blood	blood
39	chr5:37108600-37117000	Weak transcription	Pancreas	Pancrea
40	chr5:37108600-37126400	Weak transcription	Lung	lung
41	chr5:37108600-37128200	Weak transcription	Pancreatic Islets	Pancreatic Islet
42	chr5:37108600-37139600	Weak transcription	Right Ventricle	heart
43	chr5:37108800-37112200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr5:37108800-37112200	Weak transcription	Duodenum Smooth Muscle	Duodenum
45	chr5:37108800-37113000	Weak transcription	Cortex derived primary cultured neurospheres	brain
46	chr5:37108800-37113200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr5:37109000-37112400	Weak transcription	Osteobl	bone
48	chr5:37109000-37114400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
49	chr5:37109200-37117800	Weak transcription	Colonic Mucosa	Colon
50	chr5:37109400-37113200	Weak transcription	Fetal Lung	lung

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