Variant report

Variant	rs73735397
Chromosome Location	chr6:45343833-45343834
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:45342717..45344818-chr6:45345262..45347639,2	K562	blood:
2	chr6:45343131..45346998-chr6:45386286..45389886,4	MCF-7	breast:
3	chr6:45332930..45339216-chr6:45342239..45349440,11	K562	blood:
4	chr6:45330855..45333566-chr6:45341032..45343987,2	K562	blood:

Variant related genes	Relation type
ENSG00000124813	Chromatin interaction
ENSG00000196284	Chromatin interaction
ENSG00000271857	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs55775000	1.00[AFR][1000 genomes]
rs56246318	0.86[AFR][1000 genomes]
rs61218822	0.86[AFR][1000 genomes]
rs73735314	1.00[AFR][1000 genomes]
rs73735317	1.00[AFR][1000 genomes]
rs73735373	1.00[AFR][1000 genomes]
rs73735387	0.86[AFR][1000 genomes]
rs73735393	0.86[AFR][1000 genomes]
rs73735396	0.86[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1028393	chr6:44875558-45822335	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv538211	chr6:44875558-45822335	ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:45310800-45344800	Weak transcription	Ovary	ovary
2	chr6:45316400-45344000	Weak transcription	Fetal Intestine Large	intestine
3	chr6:45320800-45344200	Weak transcription	NH-A	brain
4	chr6:45323400-45344000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr6:45326600-45344000	Weak transcription	Primary hematopoietic stem cells	blood
6	chr6:45330200-45344200	Weak transcription	Brain Substantia Nigra	brain
7	chr6:45334000-45344200	Weak transcription	Fetal Thymus	thymus
8	chr6:45336000-45344200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr6:45336200-45344000	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr6:45336400-45344600	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr6:45336400-45344600	Weak transcription	Psoas Muscle	Psoas
12	chr6:45338000-45344200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr6:45339400-45344000	Weak transcription	Fetal Kidney	kidney
14	chr6:45339800-45344200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr6:45339800-45344200	Weak transcription	Duodenum Mucosa	Duodenum
16	chr6:45339800-45344200	Weak transcription	Fetal Intestine Small	intestine
17	chr6:45340000-45344600	Weak transcription	Fetal Lung	lung
18	chr6:45340800-45344200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr6:45342000-45344000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr6:45342000-45344400	Weak transcription	Right Atrium	heart
21	chr6:45342600-45344200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
22	chr6:45343000-45344200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr6:45343200-45344000	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr6:45343400-45344000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr6:45343400-45344000	Enhancers	HepG2	liver
26	chr6:45343400-45344200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr6:45343400-45344600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
28	chr6:45343400-45344600	Enhancers	Primary T helper cells fromperipheralblood	blood
29	chr6:45343400-45344600	Enhancers	Brain Hippocampus Middle	brain
30	chr6:45343600-45344000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
31	chr6:45343600-45344000	Weak transcription	Primary T helper cells PMA-I stimulated	--
32	chr6:45343600-45344400	Enhancers	Fetal Heart	heart
33	chr6:45343600-45344400	Enhancers	Stomach Smooth Muscle	stomach
34	chr6:45343600-45344800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
35	chr6:45343600-45345000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr6:45343800-45344000	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr6:45343800-45344000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr6:45343800-45344000	Enhancers	HUES48 Cell Line	embryonic stem cell
39	chr6:45343800-45344000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr6:45343800-45344000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr6:45343800-45344200	Active TSS	HUES64 Cell Line	embryonic stem cell
42	chr6:45343800-45344200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr6:45343800-45344200	Enhancers	Brain Germinal Matrix	brain
44	chr6:45343800-45344200	Enhancers	A549	lung
45	chr6:45343800-45344200	Enhancers	Osteobl	bone
46	chr6:45343800-45344600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr6:45343800-45344600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
48	chr6:45343800-45344600	Enhancers	HSMM	muscle
49	chr6:45343800-45344600	Flanking Active TSS	K562	blood
50	chr6:45343800-45345000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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