Variant report

Variant	rs112596491
Chromosome Location	chr3:51989964-51989965
allele	A/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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:51980605..51983550-chr3:51988202..51990542,2	MCF-7	breast:
2	chr3:51989698..51992601-chr3:51995625..51997375,2	MCF-7	breast:
3	chr3:51987928..51991924-chr3:52001407..52003695,4	MCF-7	breast:
4	chr3:51988009..51992311-chr3:51992660..51997455,6	K562	blood:
5	chr3:51976311..51979172-chr3:51989239..51992217,2	K562	blood:
6	chr3:51987614..51990073-chr3:52025987..52029912,3	K562	blood:
7	chr3:51988573..51991523-chr3:52028412..52030001,2	K562	blood:
8	chr3:51985305..51989166-chr3:51989564..51992012,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000162244	Chromatin interaction
ENSG00000090097	Chromatin interaction
ENSG00000041880	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:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:51977200-51992000	Weak transcription	Aorta	Aorta
2	chr3:51983800-51990200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr3:51986200-51993400	Weak transcription	HepG2	liver
4	chr3:51987600-51990200	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
5	chr3:51987600-51992000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr3:51988000-51990600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr3:51988000-51990800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr3:51988000-51990800	Weak transcription	HSMM	muscle
9	chr3:51988000-51992400	Weak transcription	HSMMtube	muscle
10	chr3:51988400-52000600	Weak transcription	Hela-S3	cervix
11	chr3:51989000-51990000	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
12	chr3:51989200-51990000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr3:51989200-51990400	Active TSS	Brain Angular Gyrus	brain
14	chr3:51989200-51990800	Active TSS	Brain Inferior Temporal Lobe	brain
15	chr3:51989200-51991000	Enhancers	Fetal Brain Male	brain
16	chr3:51989200-51991000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
17	chr3:51989200-51991200	Enhancers	Spleen	Spleen
18	chr3:51989200-51991400	Enhancers	Liver	Liver
19	chr3:51989200-51991400	Enhancers	Fetal Heart	heart
20	chr3:51989400-51990000	Bivalent Enhancer	Primary B cells from cord blood	blood
21	chr3:51989400-51990200	Enhancers	Lung	lung
22	chr3:51989400-51990400	Bivalent/Poised TSS	Primary T cells from cord blood	blood
23	chr3:51989400-51990600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
24	chr3:51989400-51990600	Active TSS	Brain Substantia Nigra	brain
25	chr3:51989400-51990800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr3:51989400-51991000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
27	chr3:51989400-51991800	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr3:51989400-51997000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr3:51989600-51990000	Flanking Bivalent TSS/Enh	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr3:51989600-51990000	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
31	chr3:51989600-51990000	Flanking Active TSS	Psoas Muscle	Psoas
32	chr3:51989600-51990000	Enhancers	Small Intestine	intestine
33	chr3:51989600-51990000	Flanking Active TSS	HUVEC	blood vessel
34	chr3:51989600-51990200	Bivalent/Poised TSS	Primary T regulatory cells fromperipheralblood	blood
35	chr3:51989600-51990200	Bivalent/Poised TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr3:51989600-51990400	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr3:51989600-51990400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
38	chr3:51989600-51990400	Flanking Active TSS	Gastric	stomach
39	chr3:51989600-51990400	Active TSS	Osteobl	bone
40	chr3:51989600-51990600	Active TSS	Brain Hippocampus Middle	brain
41	chr3:51989600-51990600	Flanking Active TSS	Ovary	ovary
42	chr3:51989600-51990600	Enhancers	NHDF-Ad	bronchial
43	chr3:51989600-51990800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
44	chr3:51989600-51990800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
45	chr3:51989600-51990800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr3:51989600-51990800	Active TSS	Brain Anterior Caudate	brain
47	chr3:51989600-51990800	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
48	chr3:51989600-51990800	Flanking Active TSS	Right Ventricle	heart
49	chr3:51989800-51990000	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr3:51989800-51990000	Enhancers	Primary hematopoietic stem cells	blood

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