Variant report

Variant	rs200444404
Chromosome Location	chr1:94281947-94281948
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	chr1:94145260..94147356-chr1:94280674..94282798,2	MCF-7	breast:
2	chr1:94280000..94282465-chr1:94282888..94285001,2	K562	blood:

Variant related genes	Relation type
ENSG00000137936	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv546822	chr1:94246577-94289863	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	esv1815663	chr1:94246577-94291252	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Genic enhancers	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv1877	chr1:94247756-94292908	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Active TSS	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv508415	chr1:94256122-94305339	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	esv1802380	chr1:94272119-94291252	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	esv1822452	chr1:94278128-94320233	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	121 gene(s)	inside rSNPs	diseases
7	esv1005153	chr1:94281705-94283362	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:94273600-94282800	Weak transcription	Lung	lung
2	chr1:94275800-94282400	Enhancers	Muscle Satellite Cultured Cells	--
3	chr1:94275800-94284200	Enhancers	Hela-S3	cervix
4	chr1:94275800-94285000	Enhancers	HMEC	breast
5	chr1:94276000-94283600	Enhancers	HSMM	muscle
6	chr1:94276000-94285200	Enhancers	Placenta	Placenta
7	chr1:94276800-94283800	Enhancers	NHEK	skin
8	chr1:94277000-94282400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr1:94277000-94284400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr1:94277000-94285000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr1:94277200-94282600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr1:94277600-94284600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr1:94277800-94282600	Weak transcription	Fetal Stomach	stomach
14	chr1:94278200-94282600	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr1:94278200-94282800	Weak transcription	Right Ventricle	heart
16	chr1:94278600-94283200	Enhancers	Osteobl	bone
17	chr1:94278600-94284000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr1:94278800-94282000	Enhancers	Placenta Amnion	Placenta Amnion
19	chr1:94278800-94282600	Weak transcription	Left Ventricle	heart
20	chr1:94279400-94282400	Enhancers	Primary hematopoietic stem cells short term culture	blood
21	chr1:94279400-94282800	Weak transcription	Duodenum Mucosa	Duodenum
22	chr1:94279400-94284400	Enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr1:94279600-94282400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
24	chr1:94279600-94282400	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr1:94279600-94282400	Weak transcription	Fetal Intestine Small	intestine
26	chr1:94279600-94282400	Weak transcription	NHDF-Ad	bronchial
27	chr1:94279600-94282600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr1:94279600-94302800	Weak transcription	Stomach Smooth Muscle	stomach
29	chr1:94279800-94282400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr1:94279800-94282400	Weak transcription	HepG2	liver
31	chr1:94279800-94282600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr1:94279800-94282600	Weak transcription	NHLF	lung
33	chr1:94279800-94284400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr1:94279800-94284600	Enhancers	Primary hematopoietic stem cells	blood
35	chr1:94280000-94282200	Weak transcription	Adipose Nuclei	Adipose
36	chr1:94280000-94282400	Weak transcription	Liver	Liver
37	chr1:94280000-94282400	Weak transcription	Fetal Thymus	thymus
38	chr1:94280000-94282600	Weak transcription	Skeletal Muscle Female	skeletal muscle
39	chr1:94280000-94282800	Weak transcription	Fetal Intestine Large	intestine
40	chr1:94280000-94285600	Weak transcription	H9 Cell Line	embryonic stem cell
41	chr1:94280000-94290000	Weak transcription	Brain Angular Gyrus	brain
42	chr1:94280200-94282200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr1:94280200-94282400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr1:94280200-94282400	Weak transcription	Right Atrium	heart
45	chr1:94280200-94284000	Weak transcription	Brain Hippocampus Middle	brain
46	chr1:94280400-94282800	Weak transcription	Fetal Muscle Trunk	muscle
47	chr1:94280400-94285000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr1:94280600-94282400	Enhancers	HUVEC	blood vessel
49	chr1:94280800-94282800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr1:94280800-94283200	Enhancers	HSMMtube	muscle

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