Variant report

Variant	rs559952142
Chromosome Location	chr1:84388600-84388601
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:84388469..84390002-chr1:84396047..84397947,2	K562	blood:
2	chr1:84387778..84389882-chr1:84541236..84543359,2	K562	blood:

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	nsv871551	chr1:84354464-84453223	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	esv3492575	chr1:84387164-84390162	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	esv3492569	chr1:84387614-84389912	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	esv3320342	chr1:84388204-84389062	Weak transcription Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
5	esv3492572	chr1:84388255-84389032	Weak transcription Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
6	esv3320341	chr1:84388256-84389033	Weak transcription Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
7	esv3492573	chr1:84388258-84389000	Weak transcription Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
8	esv3320343	chr1:84388261-84389030	Weak transcription Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
9	esv3320339	chr1:84388282-84388993	Weak transcription Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
10	esv3492570	chr1:84388286-84389001	Weak transcription Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
11	esv3442581	chr1:84388327-84388964	Weak transcription Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
12	esv3492571	chr1:84388337-84388964	Strong transcription Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
13	esv3492576	chr1:84388337-84388964	Weak transcription Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
14	esv3320344	chr1:84388343-84388954	Weak transcription Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
15	esv10079	chr1:84388361-84388940	Weak transcription Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:84351000-84391400	Weak transcription	Fetal Stomach	stomach
2	chr1:84362600-84403200	Weak transcription	Fetal Brain Male	brain
3	chr1:84366400-84392800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr1:84366800-84399400	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr1:84368000-84390000	Weak transcription	NH-A	brain
6	chr1:84368000-84394200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr1:84368200-84393400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr1:84368200-84393800	Weak transcription	Rectal Smooth Muscle	rectum
9	chr1:84368200-84394800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr1:84368400-84416600	Weak transcription	NHLF	lung
11	chr1:84368400-84428400	Weak transcription	Pancreas	Pancrea
12	chr1:84374200-84393000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr1:84376200-84392800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr1:84376800-84405000	Weak transcription	Left Ventricle	heart
15	chr1:84378600-84390200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr1:84380800-84392200	Weak transcription	NHEK	skin
17	chr1:84381000-84393400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr1:84381000-84394800	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr1:84381000-84397400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr1:84381200-84390000	Weak transcription	Psoas Muscle	Psoas
21	chr1:84382600-84409800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr1:84383200-84393000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr1:84383200-84408600	Weak transcription	Adipose Nuclei	Adipose
24	chr1:84383400-84391000	Weak transcription	Brain Angular Gyrus	brain
25	chr1:84384800-84388800	Strong transcription	HSMM	muscle
26	chr1:84384800-84406600	Weak transcription	Aorta	Aorta
27	chr1:84385000-84392200	Weak transcription	Brain Cingulate Gyrus	brain
28	chr1:84385000-84392400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr1:84385000-84392800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr1:84385000-84393200	Weak transcription	Pancreatic Islets	Pancreatic Islet
31	chr1:84385200-84390000	Weak transcription	Fetal Muscle Trunk	muscle
32	chr1:84385200-84408600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr1:84386200-84393800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr1:84386200-84397800	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr1:84386600-84391000	Weak transcription	Brain Hippocampus Middle	brain
36	chr1:84386600-84392800	Weak transcription	Brain Substantia Nigra	brain
37	chr1:84386600-84392800	Weak transcription	Duodenum Smooth Muscle	Duodenum
38	chr1:84386600-84401600	Weak transcription	Stomach Smooth Muscle	stomach
39	chr1:84386800-84389000	Weak transcription	Colon Smooth Muscle	Colon
40	chr1:84386800-84390000	Weak transcription	K562	blood
41	chr1:84386800-84392000	Weak transcription	Brain Anterior Caudate	brain
42	chr1:84386800-84398400	Weak transcription	HSMMtube	muscle
43	chr1:84386800-84398800	Weak transcription	Skeletal Muscle Female	skeletal muscle
44	chr1:84386800-84403200	Weak transcription	NHDF-Ad	bronchial
45	chr1:84387000-84389600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr1:84387000-84408400	Weak transcription	Cortex derived primary cultured neurospheres	brain
47	chr1:84387000-84408400	Weak transcription	Fetal Muscle Leg	muscle
48	chr1:84387000-84410000	Weak transcription	Brain Germinal Matrix	brain
49	chr1:84387200-84389800	Weak transcription	Fetal Brain Female	brain
50	chr1:84388200-84391000	Weak transcription	Gastric	stomach

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