Variant report

Variant	rs116211523
Chromosome Location	chr3:53079125-53079126
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:46273919..46274424-chr3:53078893..53079893,2	Hela-S3	cervix:
2	chr3:53077653..53079153-chr3:53079208..53080925,2	K562	blood:

Variant related genes	Relation type
ENSG00000267395	Chromatin interaction
ENSG00000163935	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:32 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1818974	chr3:52966316-53096394	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv876800	chr3:53038786-53113762	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	esv1823728	chr3:53046712-53080351	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	esv1820544	chr3:53046712-53096394	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv822094	chr3:53059674-53096460	Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv590341	chr3:53077372-53079522	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	nsv590342	chr3:53077372-53079888	Flanking Active TSS Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	esv3341503	chr3:53078462-53080760	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	esv3461090	chr3:53078737-53081285	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
10	esv20159	chr3:53078811-53080407	Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
11	esv1807284	chr3:53078838-53080351	Bivalent/Poised TSS Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
12	esv1840185	chr3:53078838-53080351	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
13	nsv590343	chr3:53078892-53080351	Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
14	esv3461089	chr3:53078962-53080610	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
15	esv3461091	chr3:53078962-53080610	Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
16	nsv590344	chr3:53079048-53079991	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
17	nsv590345	chr3:53079048-53080097	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
18	nsv590346	chr3:53079048-53080351	Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
19	nsv590347	chr3:53079048-53088815	Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
20	nsv590348	chr3:53079101-53080097	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
21	nsv590349	chr3:53079101-53080254	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
22	esv1798557	chr3:53079101-53080351	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
23	esv1803812	chr3:53079101-53080351	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
24	esv1804993	chr3:53079101-53080351	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
25	esv1824004	chr3:53079101-53080351	Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
26	esv1828710	chr3:53079101-53080351	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
27	esv1839794	chr3:53079101-53080351	Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
28	esv1841778	chr3:53079101-53080351	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
29	esv1842789	chr3:53079101-53080351	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
30	esv1849809	chr3:53079101-53080351	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
31	esv1851359	chr3:53079101-53080351	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
32	nsv590350	chr3:53079101-53080351	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:53077800-53080800	Active TSS	Right Atrium	heart
2	chr3:53078000-53081200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr3:53078200-53080200	Active TSS	Colonic Mucosa	Colon
4	chr3:53078200-53080800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
5	chr3:53078200-53080800	Active TSS	Small Intestine	intestine
6	chr3:53078200-53081200	Active TSS	Pancreatic Islets	Pancreatic Islet
7	chr3:53078400-53079200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
8	chr3:53078400-53079200	Flanking Active TSS	Hela-S3	cervix
9	chr3:53078400-53079800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr3:53078400-53079800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr3:53078400-53080200	Active TSS	Right Ventricle	heart
12	chr3:53078400-53080600	Active TSS	Primary T regulatory cells fromperipheralblood	blood
13	chr3:53078400-53080600	Active TSS	Placenta	Placenta
14	chr3:53078400-53080600	Active TSS	Pancreas	Pancrea
15	chr3:53078400-53080800	Active TSS	Esophagus	oesophagus
16	chr3:53078400-53081200	Active TSS	H9 Cell Line	embryonic stem cell
17	chr3:53078400-53081200	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr3:53078400-53081200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr3:53078600-53079200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
20	chr3:53078600-53079200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr3:53078600-53079200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr3:53078600-53079800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr3:53078600-53079800	Active TSS	Fetal Muscle Leg	muscle
24	chr3:53078600-53080200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr3:53078600-53080200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr3:53078600-53080400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr3:53078600-53080400	Active TSS	Primary T killer naive cells fromperipheralblood	blood
28	chr3:53078600-53080400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr3:53078600-53080400	Active TSS	Fetal Adrenal Gland	Adrenal Gland
30	chr3:53078600-53080400	Active TSS	Gastric	stomach
31	chr3:53078600-53080400	Active TSS	Left Ventricle	heart
32	chr3:53078600-53080400	Active TSS	GM12878-XiMat	blood
33	chr3:53078600-53080600	Active TSS	Brain Hippocampus Middle	brain
34	chr3:53078600-53080600	Active TSS	Placenta Amnion	Placenta Amnion
35	chr3:53078600-53080600	Active TSS	Psoas Muscle	Psoas
36	chr3:53078600-53080800	Active TSS	Primary T helper naive cells fromperipheralblood	blood
37	chr3:53078600-53080800	Active TSS	Brain Cingulate Gyrus	brain
38	chr3:53078600-53080800	Active TSS	Brain Inferior Temporal Lobe	brain
39	chr3:53078600-53080800	Active TSS	Fetal Intestine Small	intestine
40	chr3:53078600-53080800	Active TSS	Sigmoid Colon	Sigmoid Colon
41	chr3:53078600-53080800	Active TSS	HSMMtube	muscle
42	chr3:53078600-53081000	Active TSS	Breast Myoepithelial Primary Cells	Breast
43	chr3:53078600-53081000	Active TSS	Aorta	Aorta
44	chr3:53078600-53081000	Active TSS	Colon Smooth Muscle	Colon
45	chr3:53078600-53081000	Active TSS	Ovary	ovary
46	chr3:53078600-53081200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
47	chr3:53078600-53081200	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
48	chr3:53078600-53081200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr3:53078600-53081200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
50	chr3:53078600-53081200	Active TSS	Duodenum Smooth Muscle	Duodenum

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