Variant report

Variant	rs530569246
Chromosome Location	chr3:121364444-121364445
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv591395	chr3:120970900-121501070	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv591396	chr3:120970900-121557533	Strong transcription Active TSS Flanking Active TSS Enhancers Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv591397	chr3:120977383-121505882	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
4	nsv999335	chr3:121100283-121408766	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	nsv1007522	chr3:121200563-121374051	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
6	nsv998740	chr3:121289499-121390271	Strong transcription Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
7	nsv432480	chr3:121355723-121629928	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
8	esv3348788	chr3:121364112-121366860	Enhancers Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	inside rSNPs	diseases
9	nsv432482	chr3:121364236-121629634	Weak transcription ZNF genes & repeats Strong transcription Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
10	nsv432481	chr3:121364236-121637178	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
11	esv3419708	chr3:121364362-121366460	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:121345600-121376800	Weak transcription	Esophagus	oesophagus
2	chr3:121347000-121378000	Weak transcription	Right Ventricle	heart
3	chr3:121347400-121367200	Weak transcription	Rectal Smooth Muscle	rectum
4	chr3:121347600-121364600	Strong transcription	Primary neutrophils fromperipheralblood	blood
5	chr3:121347600-121364600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
6	chr3:121347600-121364600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr3:121347800-121364600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr3:121348000-121364600	Strong transcription	Primary B cells from peripheral blood	blood
9	chr3:121348000-121364600	Strong transcription	Primary T cells fromperipheralblood	blood
10	chr3:121348000-121381800	Weak transcription	Aorta	Aorta
11	chr3:121348200-121364600	Strong transcription	Primary monocytes fromperipheralblood	blood
12	chr3:121348400-121364600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr3:121348400-121364600	Strong transcription	Monocytes-CD14+_RO01746	blood
14	chr3:121348800-121367200	Weak transcription	Pancreas	Pancrea
15	chr3:121349000-121364600	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
16	chr3:121349000-121364600	Strong transcription	Dnd41	blood
17	chr3:121349000-121378000	Weak transcription	Fetal Stomach	stomach
18	chr3:121349400-121364600	Strong transcription	Primary T helper cells fromperipheralblood	blood
19	chr3:121349400-121367000	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr3:121349600-121364600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr3:121349800-121367000	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr3:121350000-121364600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr3:121350000-121364600	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
24	chr3:121351000-121364600	Strong transcription	GM12878-XiMat	blood
25	chr3:121351000-121382800	Weak transcription	Small Intestine	intestine
26	chr3:121351400-121381400	Weak transcription	Gastric	stomach
27	chr3:121351800-121370400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr3:121353400-121376000	Weak transcription	Lung	lung
29	chr3:121354000-121381000	Weak transcription	Fetal Intestine Small	intestine
30	chr3:121355600-121367000	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr3:121356000-121370200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr3:121356200-121378200	Weak transcription	Colonic Mucosa	Colon
33	chr3:121356800-121379200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr3:121360200-121364600	Strong transcription	Primary T helper cells PMA-I stimulated	--
35	chr3:121360200-121364600	Strong transcription	Placenta	Placenta
36	chr3:121360600-121364600	Strong transcription	Primary T helper naive cells from peripheral blood	blood
37	chr3:121361200-121364600	Strong transcription	Primary T cells from cord blood	blood
38	chr3:121361200-121364600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
39	chr3:121361400-121364600	Strong transcription	Primary hematopoietic stem cells	blood
40	chr3:121361600-121364600	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
41	chr3:121361800-121364600	Strong transcription	Primary T killer memory cells from peripheral blood	blood
42	chr3:121361800-121364600	Strong transcription	HUVEC	blood vessel
43	chr3:121362200-121366200	Weak transcription	Fetal Heart	heart
44	chr3:121362200-121379400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr3:121362600-121379600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
46	chr3:121364000-121377000	Weak transcription	Rectal Mucosa Donor 29	rectum
47	chr3:121364200-121366200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
48	chr3:121364200-121366200	Weak transcription	Psoas Muscle	Psoas
49	chr3:121364200-121366800	Weak transcription	Adipose Nuclei	Adipose
50	chr3:121364200-121367200	Weak transcription	Liver	Liver

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