Variant report

Variant	rs565806108
Chromosome Location	chr3:51989277-51989278
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ZNF143	chr3:51989206-51990945	H1-hESC	embryonic stem cell:	n/a	chr3:51989510-51989528
2	E2F6	chr3:51989263-51990876	H1-hESC	embryonic stem cell:	n/a	chr3:51989540-51989549 chr3:51990450-51990462

No.	Distal block	Cell Line	Cell type
1	chr3:51980605..51983550-chr3:51988202..51990542,2	MCF-7	breast:
2	chr3:51987928..51991924-chr3:52001407..52003695,4	MCF-7	breast:
3	chr3:51988009..51992311-chr3:51992660..51997455,6	K562	blood:
4	chr3:51976311..51979172-chr3:51989239..51992217,2	K562	blood:
5	chr3:51987614..51990073-chr3:52025987..52029912,3	K562	blood:
6	chr3:51988573..51991523-chr3:52028412..52030001,2	K562	blood:

Variant related genes	Relation type
GPR62	TF binding region
ENSG00000162244	Chromatin interaction
ENSG00000041880	Chromatin interaction
ENSG00000090097	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv520211	chr3:51772347-52166147	Flanking Bivalent TSS/Enh Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	nsv1012847	chr3:51811062-52056727	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	68 gene(s)	inside rSNPs	diseases
3	nsv536571	chr3:51811062-52056727	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	68 gene(s)	inside rSNPs	diseases
4	nsv1003453	chr3:51962081-52099441	Active TSS Genic enhancers Strong transcription Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
5	esv1804090	chr3:51962081-52140591	Genic enhancers Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
6	esv1835339	chr3:51962081-52140591	Flanking Active TSS Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
7	nsv1003581	chr3:51973395-52108645	Active TSS Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
8	nsv1001062	chr3:51973395-52134638	Weak transcription Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
9	nsv876780	chr3:51981021-52101799	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
10	nsv876781	chr3:51985664-52009612	Active TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
11	nsv876782	chr3:51985664-52022779	Flanking Bivalent TSS/Enh Enhancers Strong transcription Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
12	nsv876783	chr3:51987224-52009612	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
13	nsv876784	chr3:51987224-52013242	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
14	esv3438711	chr3:51987612-51992410	Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
15	esv3405551	chr3:51989162-51991160	Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Active TSS Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:51977200-51992000	Weak transcription	Aorta	Aorta
2	chr3:51977600-51989400	Weak transcription	Left Ventricle	heart
3	chr3:51977800-51989400	Weak transcription	Colon Smooth Muscle	Colon
4	chr3:51980400-51989400	Weak transcription	Right Ventricle	heart
5	chr3:51983400-51989400	Weak transcription	Lung	lung
6	chr3:51983800-51990200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr3:51986200-51993400	Weak transcription	HepG2	liver
8	chr3:51987600-51989400	Enhancers	Brain Substantia Nigra	brain
9	chr3:51987600-51990200	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
10	chr3:51987600-51992000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr3:51988000-51989400	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr3:51988000-51989600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr3:51988000-51990600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr3:51988000-51990800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr3:51988000-51990800	Weak transcription	HSMM	muscle
16	chr3:51988000-51992400	Weak transcription	HSMMtube	muscle
17	chr3:51988200-51989400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr3:51988200-51989400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr3:51988200-51989400	Weak transcription	Right Atrium	heart
20	chr3:51988200-51989600	Weak transcription	Osteobl	bone
21	chr3:51988400-52000600	Weak transcription	Hela-S3	cervix
22	chr3:51988800-51989400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr3:51988800-51989600	Bivalent Enhancer	Fetal Muscle Leg	muscle
24	chr3:51989000-51989400	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr3:51989000-51989400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
26	chr3:51989000-51989400	Enhancers	Skeletal Muscle Female	skeletal muscle
27	chr3:51989000-51989600	Flanking Active TSS	Brain Anterior Caudate	brain
28	chr3:51989000-51989600	Flanking Active TSS	Brain Hippocampus Middle	brain
29	chr3:51989000-51989800	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
30	chr3:51989000-51989800	Flanking Active TSS	Brain Cingulate Gyrus	brain
31	chr3:51989000-51989800	Enhancers	Pancreas	Pancrea
32	chr3:51989000-51990000	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
33	chr3:51989200-51989400	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
34	chr3:51989200-51989400	Bivalent Enhancer	Brain Germinal Matrix	brain
35	chr3:51989200-51989400	Enhancers	Esophagus	oesophagus
36	chr3:51989200-51989400	Bivalent Enhancer	Fetal Brain Female	brain
37	chr3:51989200-51989600	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr3:51989200-51989600	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr3:51989200-51989600	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
40	chr3:51989200-51989600	Enhancers	Breast Myoepithelial Primary Cells	Breast
41	chr3:51989200-51989600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
42	chr3:51989200-51989600	Bivalent Enhancer	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr3:51989200-51989600	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr3:51989200-51989600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr3:51989200-51989600	Enhancers	Adipose Nuclei	Adipose
46	chr3:51989200-51989600	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
47	chr3:51989200-51989600	Enhancers	Gastric	stomach
48	chr3:51989200-51989600	Enhancers	Ovary	ovary
49	chr3:51989200-51989600	Enhancers	Psoas Muscle	Psoas
50	chr3:51989200-51989600	Bivalent Enhancer	Stomach Smooth Muscle	stomach

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