Variant report

Variant	rs34865988
Chromosome Location	chr5:128301538-128301539
allele	-/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:128301330..128303294-chr5:128429299..128431386,3	K562	blood:
2	chr5:128299750..128303179-chr5:128428591..128431385,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000066583	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	nsv882839	chr5:128205828-128390167	Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
2	nsv882840	chr5:128205828-128428962	Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv830485	chr5:128298622-128480492	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
4	nsv819884	chr5:128301059-128303254	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:128300400-128301600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
2	chr5:128300400-128301600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
3	chr5:128300400-128301600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr5:128300400-128301800	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr5:128300400-128301800	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr5:128300400-128301800	Active TSS	Brain Substantia Nigra	brain
7	chr5:128300400-128301800	Active TSS	Pancreatic Islets	Pancreatic Islet
8	chr5:128300400-128302000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
9	chr5:128300400-128302000	Active TSS	K562	blood
10	chr5:128300400-128302200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
11	chr5:128300400-128302200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
12	chr5:128300400-128302200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
13	chr5:128300400-128302200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
14	chr5:128300600-128301600	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr5:128300600-128301600	Active TSS	Brain Cingulate Gyrus	brain
16	chr5:128300600-128301600	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
17	chr5:128300600-128301600	Bivalent/Poised TSS	Fetal Intestine Large	intestine
18	chr5:128300600-128301600	Bivalent/Poised TSS	Fetal Intestine Small	intestine
19	chr5:128300600-128301600	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
20	chr5:128300600-128301600	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
21	chr5:128300600-128301600	Enhancers	Spleen	Spleen
22	chr5:128300600-128301800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr5:128300600-128301800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
24	chr5:128300600-128301800	Bivalent/Poised TSS	Fetal Brain Female	brain
25	chr5:128300600-128302000	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr5:128300600-128302000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
27	chr5:128300600-128302000	Active TSS	Thymus	Thymus
28	chr5:128300600-128302200	Active TSS	Placenta Amnion	Placenta Amnion
29	chr5:128300600-128302400	Active TSS	Ovary	ovary
30	chr5:128300600-128303000	Active TSS	Left Ventricle	heart
31	chr5:128300600-128303200	Active TSS	Breast Myoepithelial Primary Cells	Breast
32	chr5:128300600-128303200	Active TSS	Right Atrium	heart
33	chr5:128300600-128303600	Active TSS	Right Ventricle	heart
34	chr5:128300800-128301600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr5:128300800-128301600	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr5:128300800-128301600	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr5:128300800-128301600	Active TSS	Duodenum Mucosa	Duodenum
38	chr5:128300800-128301600	Active TSS	Duodenum Smooth Muscle	Duodenum
39	chr5:128300800-128301600	Active TSS	Fetal Heart	heart
40	chr5:128300800-128301600	Bivalent/Poised TSS	NHEK	skin
41	chr5:128300800-128301800	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
42	chr5:128300800-128301800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr5:128300800-128302000	Bivalent/Poised TSS	Fetal Stomach	stomach
44	chr5:128300800-128302200	Active TSS	Rectal Mucosa Donor 31	rectum
45	chr5:128301000-128301600	Bivalent Enhancer	Colonic Mucosa	Colon
46	chr5:128301000-128301600	Active TSS	Placenta	Placenta
47	chr5:128301000-128301600	Active TSS	Rectal Mucosa Donor 29	rectum
48	chr5:128301000-128301800	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
49	chr5:128301000-128301800	Active TSS	Gastric	stomach
50	chr5:128301200-128301600	Flanking Active TSS	Primary hematopoietic stem cells	blood

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