Variant report

Variant	rs533971545
Chromosome Location	chr3:70013901-70013902
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:70013897..70016716-chr3:70049706..70051313,2	K562	blood:
2	chr3:70013471..70015718-chr3:70015918..70017994,2	K562	blood:
3	chr3:70012809..70015718-chr3:70015918..70017994,3	K562	blood:
4	chr3:70009370..70011252-chr3:70011508..70014285,2	MCF-7	breast:

Extended variants
information (count: 16 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533396	chr3:69964029-70538306	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	esv3514808	chr3:70012162-70014649	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
3	esv2491017	chr3:70012673-70014394	Weak transcription Genic enhancers Strong transcription ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
4	esv2312935	chr3:70013298-70014076	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
5	esv3514814	chr3:70013372-70014003	Genic enhancers Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
6	esv3461994	chr3:70013377-70013977	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
7	esv3514813	chr3:70013381-70013982	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
8	esv3514810	chr3:70013389-70013927	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
9	esv7835	chr3:70013392-70014132	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
10	esv3461995	chr3:70013397-70013958	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
11	esv3461999	chr3:70013397-70013958	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
12	esv3461998	chr3:70013410-70013915	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
13	esv3514809	chr3:70013415-70013942	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
14	esv3514811	chr3:70013417-70013938	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
15	esv5323	chr3:70013433-70013950	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
16	esv3362573	chr3:70013437-70013908	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:69978600-70014000	Weak transcription	Esophagus	oesophagus
2	chr3:69981800-70016800	Weak transcription	K562	blood
3	chr3:69990800-70015600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr3:69993600-70015600	Weak transcription	Colonic Mucosa	Colon
5	chr3:69994400-70016200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr3:69998000-70016000	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr3:69998200-70017600	Weak transcription	Duodenum Mucosa	Duodenum
8	chr3:69998400-70016000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr3:69998800-70014200	Weak transcription	A549	lung
10	chr3:70001600-70017200	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr3:70003800-70016600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr3:70004600-70017000	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr3:70005400-70017000	Weak transcription	Hela-S3	cervix
14	chr3:70006000-70017400	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr3:70007200-70017400	Weak transcription	Fetal Muscle Trunk	muscle
16	chr3:70007600-70015400	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr3:70007600-70016200	Weak transcription	Spleen	Spleen
18	chr3:70009000-70016000	Weak transcription	Gastric	stomach
19	chr3:70009000-70021200	Weak transcription	Rectal Smooth Muscle	rectum
20	chr3:70009200-70014000	Weak transcription	Lung	lung
21	chr3:70009200-70014000	Weak transcription	NHLF	lung
22	chr3:70009200-70015800	Weak transcription	Brain Angular Gyrus	brain
23	chr3:70009200-70015800	Weak transcription	HSMM	muscle
24	chr3:70009400-70015400	Weak transcription	Fetal Lung	lung
25	chr3:70009400-70015800	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr3:70009600-70015800	Weak transcription	Brain Substantia Nigra	brain
27	chr3:70009600-70015800	Weak transcription	Right Ventricle	heart
28	chr3:70009600-70016000	Weak transcription	Aorta	Aorta
29	chr3:70009600-70018800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr3:70009800-70014000	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr3:70009800-70015600	Weak transcription	Brain Cingulate Gyrus	brain
32	chr3:70009800-70015800	Weak transcription	Stomach Mucosa	stomach
33	chr3:70009800-70017200	Weak transcription	Pancreas	Pancrea
34	chr3:70009800-70018800	Weak transcription	Colon Smooth Muscle	Colon
35	chr3:70010000-70016000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr3:70010000-70016600	Weak transcription	Brain Anterior Caudate	brain
37	chr3:70010200-70016000	Weak transcription	Fetal Muscle Leg	muscle
38	chr3:70010200-70021200	Weak transcription	HSMMtube	muscle
39	chr3:70010200-70022800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr3:70010200-70024000	Weak transcription	Fetal Kidney	kidney
41	chr3:70011400-70014600	Strong transcription	Left Ventricle	heart
42	chr3:70012000-70014400	Genic enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr3:70012000-70014800	Strong transcription	Skeletal Muscle Female	skeletal muscle
44	chr3:70012000-70015800	Weak transcription	Brain Hippocampus Middle	brain
45	chr3:70012600-70014600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr3:70012600-70015600	Strong transcription	Primary monocytes fromperipheralblood	blood
47	chr3:70013000-70014800	Strong transcription	Monocytes-CD14+_RO01746	blood
48	chr3:70013000-70015600	Weak transcription	Fetal Heart	heart
49	chr3:70013600-70014400	Strong transcription	Stomach Smooth Muscle	stomach
50	chr3:70013600-70015000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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