Variant report

Variant	rs544818172
Chromosome Location	chr5:73981622-73981623
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:73979598..73982392-chr5:73983812..73990818,9	MCF-7	breast:
2	chr5:73969331..73972056-chr5:73981357..73983781,2	MCF-7	breast:
3	chr5:73979909..73982593-chr5:73987219..73990536,5	MCF-7	breast:
4	chr5:73981038..73983852-chr5:73999852..74002635,2	MCF-7	breast:
5	chr5:72857771..72859719-chr5:73979974..73981658,2	K562	blood:
6	chr5:73980885..73983030-chr5:74062980..74064496,2	MCF-7	breast:
7	chr5:73980002..73981869-chr5:74633426..74635131,2	K562	blood:
8	chr5:73981324..73983563-chr5:74077397..74079724,2	K562	blood:
9	chr5:73980953..73983731-chr5:74012002..74014571,3	MCF-7	breast:
10	chr5:73978938..73982006-chr5:74061565..74064417,3	K562	blood:
11	chr5:73979743..73983565-chr5:73984545..73990071,12	K562	blood:
12	chr5:73979647..73982006-chr5:74061742..74064417,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000164346	Chromatin interaction
ENSG00000164331	Chromatin interaction
ENSG00000049860	Chromatin interaction
ENSG00000164347	Chromatin interaction
ENSG00000113161	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	esv13844	chr5:73979961-73993853	Enhancers Transcr. at gene 5' and 3' Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
2	nsv598652	chr5:73980182-73992881	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
3	nsv934214	chr5:73981349-73993050	Active TSS Strong transcription Weak transcription Genic enhancers Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
4	nsv933165	chr5:73981599-73993050	Genic enhancers Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:73980400-73981800	Active TSS	Primary T killer memory cells from peripheral blood	blood
2	chr5:73980600-73981800	Active TSS	H9 Cell Line	embryonic stem cell
3	chr5:73980600-73981800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr5:73980600-73981800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr5:73980600-73981800	Active TSS	HUES6 Cell Line	embryonic stem cell
6	chr5:73980600-73981800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr5:73980600-73981800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr5:73980600-73981800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr5:73980600-73981800	Active TSS	Brain Angular Gyrus	brain
10	chr5:73980600-73981800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
11	chr5:73980600-73981800	Active TSS	Brain Substantia Nigra	brain
12	chr5:73980600-73981800	Active TSS	Rectal Mucosa Donor 29	rectum
13	chr5:73980600-73981800	Active TSS	Rectal Smooth Muscle	rectum
14	chr5:73980600-73981800	Active TSS	Right Ventricle	heart
15	chr5:73980600-73981800	Active TSS	HMEC	breast
16	chr5:73980600-73982000	Active TSS	HUES64 Cell Line	embryonic stem cell
17	chr5:73980600-73982000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr5:73980600-73982000	Active TSS	Breast Myoepithelial Primary Cells	Breast
19	chr5:73980600-73982000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr5:73980600-73982000	Active TSS	Brain Inferior Temporal Lobe	brain
21	chr5:73980600-73982000	Active TSS	Duodenum Smooth Muscle	Duodenum
22	chr5:73980600-73982000	Active TSS	Fetal Lung	lung
23	chr5:73980600-73982000	Active TSS	Stomach Smooth Muscle	stomach
24	chr5:73980600-73982000	Active TSS	Thymus	Thymus
25	chr5:73980600-73982000	Active TSS	Monocytes-CD14+_RO01746	blood
26	chr5:73980600-73982200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr5:73980600-73982200	Active TSS	Brain Hippocampus Middle	brain
28	chr5:73980600-73982200	Active TSS	Ovary	ovary
29	chr5:73980600-73982400	Active TSS	ES-I3 Cell Line	embryonic stem cell
30	chr5:73980600-73982400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
31	chr5:73980600-73982800	Active TSS	Fetal Kidney	kidney
32	chr5:73980800-73981800	Active TSS	Fetal Intestine Small	intestine
33	chr5:73980800-73981800	Active TSS	NHLF	lung
34	chr5:73980800-73982000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr5:73980800-73982000	Active TSS	Colon Smooth Muscle	Colon
36	chr5:73980800-73982000	Active TSS	Esophagus	oesophagus
37	chr5:73980800-73982000	Active TSS	Right Atrium	heart
38	chr5:73980800-73982000	Active TSS	Small Intestine	intestine
39	chr5:73980800-73982000	Active TSS	NHDF-Ad	bronchial
40	chr5:73980800-73982200	Active TSS	Aorta	Aorta
41	chr5:73980800-73982200	Active TSS	Pancreatic Islets	Pancreatic Islet
42	chr5:73980800-73982600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr5:73980800-73982800	Active TSS	Fetal Intestine Large	intestine
44	chr5:73981000-73981800	Active TSS	Primary T killer naive cells fromperipheralblood	blood
45	chr5:73981000-73981800	Active TSS	Sigmoid Colon	Sigmoid Colon
46	chr5:73981000-73982000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr5:73981000-73982000	Active TSS	Lung	lung
48	chr5:73981000-73982000	Active TSS	Stomach Mucosa	stomach
49	chr5:73981000-73982200	Active TSS	Gastric	stomach
50	chr5:73981200-73981800	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell

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