Variant report

Variant	rs140522520
Chromosome Location	chr3:70013415-70013416
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	chr3:70012809..70015718-chr3:70015918..70017994,3	K562	blood:
2	chr3:70009370..70011252-chr3:70011508..70014285,2	MCF-7	breast:

Extended variants
information (count: 13 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:13 , 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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:69975800-70013800	Weak transcription	Psoas Muscle	Psoas
2	chr3:69978600-70014000	Weak transcription	Esophagus	oesophagus
3	chr3:69981800-70016800	Weak transcription	K562	blood
4	chr3:69990800-70015600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr3:69993600-70015600	Weak transcription	Colonic Mucosa	Colon
6	chr3:69994400-70016200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr3:69998000-70016000	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr3:69998200-70017600	Weak transcription	Duodenum Mucosa	Duodenum
9	chr3:69998400-70016000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr3:69998800-70014200	Weak transcription	A549	lung
11	chr3:70001600-70017200	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr3:70003800-70016600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr3:70004600-70017000	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr3:70005400-70017000	Weak transcription	Hela-S3	cervix
15	chr3:70006000-70017400	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr3:70007200-70017400	Weak transcription	Fetal Muscle Trunk	muscle
17	chr3:70007600-70015400	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr3:70007600-70016200	Weak transcription	Spleen	Spleen
19	chr3:70009000-70016000	Weak transcription	Gastric	stomach
20	chr3:70009000-70021200	Weak transcription	Rectal Smooth Muscle	rectum
21	chr3:70009200-70014000	Weak transcription	Lung	lung
22	chr3:70009200-70014000	Weak transcription	NHLF	lung
23	chr3:70009200-70015800	Weak transcription	Brain Angular Gyrus	brain
24	chr3:70009200-70015800	Weak transcription	HSMM	muscle
25	chr3:70009400-70015400	Weak transcription	Fetal Lung	lung
26	chr3:70009400-70015800	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr3:70009600-70013800	Weak transcription	Fetal Stomach	stomach
28	chr3:70009600-70015800	Weak transcription	Brain Substantia Nigra	brain
29	chr3:70009600-70015800	Weak transcription	Right Ventricle	heart
30	chr3:70009600-70016000	Weak transcription	Aorta	Aorta
31	chr3:70009600-70018800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr3:70009800-70014000	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr3:70009800-70015600	Weak transcription	Brain Cingulate Gyrus	brain
34	chr3:70009800-70015800	Weak transcription	Stomach Mucosa	stomach
35	chr3:70009800-70017200	Weak transcription	Pancreas	Pancrea
36	chr3:70009800-70018800	Weak transcription	Colon Smooth Muscle	Colon
37	chr3:70010000-70013600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr3:70010000-70013800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr3:70010000-70016000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr3:70010000-70016600	Weak transcription	Brain Anterior Caudate	brain
41	chr3:70010200-70013600	Weak transcription	Stomach Smooth Muscle	stomach
42	chr3:70010200-70013800	Weak transcription	Adipose Nuclei	Adipose
43	chr3:70010200-70013800	Weak transcription	Liver	Liver
44	chr3:70010200-70013800	Weak transcription	Ovary	ovary
45	chr3:70010200-70016000	Weak transcription	Fetal Muscle Leg	muscle
46	chr3:70010200-70021200	Weak transcription	HSMMtube	muscle
47	chr3:70010200-70022800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr3:70010200-70024000	Weak transcription	Fetal Kidney	kidney
49	chr3:70010400-70013800	Weak transcription	Skeletal Muscle Male	skeletal muscle
50	chr3:70011400-70014600	Strong transcription	Left Ventricle	heart

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