Variant report

Variant	rs541498234
Chromosome Location	chr1:94582631-94582632
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:94526939..94529383-chr1:94580613..94583165,2	MCF-7	breast:
2	chr1:94532482..94534156-chr1:94582374..94584202,2	MCF-7	breast:
3	chr1:94564934..94567258-chr1:94582385..94584556,2	MCF-7	breast:
4	chr1:94571469..94574892-chr1:94577789..94583222,4	K562	blood:
5	chr1:94561960..94563528-chr1:94582281..94584718,2	MCF-7	breast:
6	chr1:94567418..94570803-chr1:94581520..94584135,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000198691	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1807674	chr1:94549175-94588191	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv871416	chr1:94566311-94635028	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv870932	chr1:94579053-94607607	Flanking Active TSS ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv871679	chr1:94579426-94598568	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv871502	chr1:94579426-94607607	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	nsv871306	chr1:94579426-94609478	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
7	nsv871210	chr1:94579426-94629643	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv523430	chr1:94582249-94591481	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:94564600-94591800	Weak transcription	Right Atrium	heart
2	chr1:94567400-94585400	Weak transcription	Brain Anterior Caudate	brain
3	chr1:94571000-94583000	Weak transcription	Pancreas	Pancrea
4	chr1:94574600-94583000	Weak transcription	Brain Substantia Nigra	brain
5	chr1:94575800-94583000	Weak transcription	Left Ventricle	heart
6	chr1:94580200-94587600	Enhancers	Placenta	Placenta
7	chr1:94580400-94587600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr1:94580600-94583400	Enhancers	Fetal Kidney	kidney
9	chr1:94581000-94585200	Enhancers	Ovary	ovary
10	chr1:94581200-94583000	Enhancers	Brain Cingulate Gyrus	brain
11	chr1:94581200-94583200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr1:94581200-94584200	Enhancers	NHDF-Ad	bronchial
13	chr1:94581200-94584400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr1:94581400-94583000	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
15	chr1:94581400-94583000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr1:94581400-94583600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr1:94581400-94583800	Enhancers	Cortex derived primary cultured neurospheres	brain
18	chr1:94581400-94584200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr1:94581400-94585200	Enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr1:94581400-94587600	Enhancers	Fetal Muscle Leg	muscle
21	chr1:94581400-94588000	Enhancers	Placenta Amnion	Placenta Amnion
22	chr1:94581600-94582800	Enhancers	Fetal Brain Male	brain
23	chr1:94581600-94582800	Enhancers	Osteobl	bone
24	chr1:94581600-94583200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr1:94581600-94583600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr1:94581600-94583600	Enhancers	Skeletal Muscle Male	skeletal muscle
27	chr1:94581600-94583800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr1:94581600-94585000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr1:94581600-94586200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr1:94581600-94588600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr1:94581800-94582800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr1:94581800-94582800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
33	chr1:94581800-94582800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr1:94581800-94583000	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
35	chr1:94581800-94583000	Weak transcription	Spleen	Spleen
36	chr1:94581800-94583400	Enhancers	Adipose Nuclei	Adipose
37	chr1:94582000-94583000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr1:94582000-94583000	Bivalent Enhancer	H9 Cell Line	embryonic stem cell
39	chr1:94582000-94583000	Bivalent Enhancer	Fetal Intestine Large	intestine
40	chr1:94582000-94583800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
41	chr1:94582000-94583800	Enhancers	Fetal Stomach	stomach
42	chr1:94582000-94583800	Weak transcription	A549	lung
43	chr1:94582000-94585600	Enhancers	Fetal Muscle Trunk	muscle
44	chr1:94582200-94583000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr1:94582200-94583400	Enhancers	Brain Germinal Matrix	brain
46	chr1:94582200-94583400	Enhancers	Skeletal Muscle Female	skeletal muscle
47	chr1:94582200-94583600	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
48	chr1:94582200-94587400	Enhancers	HUES6 Cell Line	embryonic stem cell
49	chr1:94582400-94582800	Enhancers	HUES64 Cell Line	embryonic stem cell
50	chr1:94582400-94583400	Enhancers	Liver	Liver

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