Variant report

Variant	rs138416776
Chromosome Location	chr5:36600617-36600618
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	chr5:36598036..36602737-chr5:36604248..36607271,4	K562	blood:

Variant related genes	Relation type
ENSG00000079215	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv492319	chr5:36570707-37061019	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
2	nsv881025	chr5:36575021-36613053	Weak transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
3	nsv830263	chr5:36576504-36755093	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	esv2762516	chr5:36599385-36613201	Strong transcription Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:36591200-36606200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr5:36597000-36603000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr5:36597000-36605600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr5:36597000-36606200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr5:36597200-36601000	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr5:36597200-36605200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr5:36598200-36603000	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr5:36598200-36603000	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr5:36598400-36603000	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr5:36598400-36603200	Weak transcription	Fetal Muscle Leg	muscle
11	chr5:36598400-36604400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr5:36600000-36601000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr5:36600000-36601200	Enhancers	Osteobl	bone
14	chr5:36600000-36602200	Enhancers	Brain Anterior Caudate	brain
15	chr5:36600000-36604200	Enhancers	Brain Angular Gyrus	brain
16	chr5:36600000-36605600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr5:36600200-36600800	Enhancers	Brain Hippocampus Middle	brain
18	chr5:36600200-36601000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr5:36600200-36601200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr5:36600200-36601200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr5:36600200-36601200	Enhancers	HMEC	breast
22	chr5:36600200-36601200	Enhancers	NHEK	skin
23	chr5:36600200-36601800	Enhancers	Fetal Lung	lung
24	chr5:36600200-36602200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
25	chr5:36600200-36602200	Enhancers	Fetal Brain Male	brain
26	chr5:36600200-36602600	Enhancers	Brain Germinal Matrix	brain
27	chr5:36600200-36605600	Enhancers	Cortex derived primary cultured neurospheres	brain
28	chr5:36600200-36606000	Enhancers	Brain Substantia Nigra	brain
29	chr5:36600400-36600800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr5:36600400-36601000	Enhancers	HUES48 Cell Line	embryonic stem cell
31	chr5:36600400-36601000	Enhancers	iPS-18 Cell Line	embryonic stem cell
32	chr5:36600400-36601000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr5:36600400-36601000	Enhancers	HSMM	muscle
34	chr5:36600400-36601600	Enhancers	NHDF-Ad	bronchial
35	chr5:36600400-36601800	Enhancers	NHLF	lung
36	chr5:36600600-36600800	Genic enhancers	ES-I3 Cell Line	embryonic stem cell
37	chr5:36600600-36600800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr5:36600600-36600800	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
39	chr5:36600600-36601000	Enhancers	Adipose Nuclei	Adipose
40	chr5:36600600-36601000	Flanking Active TSS	Brain Cingulate Gyrus	brain
41	chr5:36600600-36601200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr5:36600600-36601600	Enhancers	Fetal Kidney	kidney
43	chr5:36600600-36602000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr5:36600600-36602200	Enhancers	Fetal Brain Female	brain

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