Variant report

Variant	rs529603033
Chromosome Location	chr1:114445030-114445031
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:114361850..114364464-chr1:114444259..114447022,2	MCF-7	breast:
2	chr1:114444168..114452207-chr1:114466193..114476714,61	K562	blood:

Variant related genes	Relation type
ENSG00000235527	Chromatin interaction
ENSG00000163349	Chromatin interaction
ENSG00000134242	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2752424	chr1:114189958-114712958	Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
2	esv1826178	chr1:114331645-114471583	Strong transcription Flanking Active TSS Active TSS Weak transcription Genic enhancers Enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
3	esv1842398	chr1:114331645-114471583	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
4	esv1848035	chr1:114331645-114471583	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
5	nsv819786	chr1:114444112-114446238	Weak transcription Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:114415000-114447000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr1:114420200-114446400	Weak transcription	Aorta	Aorta
3	chr1:114431800-114445400	Weak transcription	Stomach Mucosa	stomach
4	chr1:114434800-114446200	Weak transcription	Fetal Heart	heart
5	chr1:114435600-114446200	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr1:114435600-114446400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr1:114436000-114446800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr1:114436200-114445200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr1:114436200-114446600	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr1:114436200-114446600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr1:114436400-114445200	Strong transcription	Brain Anterior Caudate	brain
12	chr1:114436400-114445600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
13	chr1:114436600-114445600	Strong transcription	Fetal Thymus	thymus
14	chr1:114436800-114445200	Strong transcription	Skeletal Muscle Female	skeletal muscle
15	chr1:114436800-114445600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr1:114436800-114445600	Strong transcription	Osteobl	bone
17	chr1:114436800-114446400	Strong transcription	Fetal Muscle Trunk	muscle
18	chr1:114437000-114445600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr1:114437000-114445600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr1:114437000-114445600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr1:114437200-114445600	Strong transcription	Fetal Muscle Leg	muscle
22	chr1:114437400-114445200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
23	chr1:114437400-114445400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr1:114437400-114445600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr1:114437600-114446400	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr1:114437800-114445400	Strong transcription	Brain Germinal Matrix	brain
27	chr1:114437800-114445400	Strong transcription	Brain Hippocampus Middle	brain
28	chr1:114437800-114445400	Strong transcription	Left Ventricle	heart
29	chr1:114438800-114445200	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr1:114439200-114446400	Weak transcription	Placenta Amnion	Placenta Amnion
31	chr1:114440200-114445200	Strong transcription	K562	blood
32	chr1:114440200-114445400	Strong transcription	Primary hematopoietic stem cells	blood
33	chr1:114440400-114445600	Strong transcription	Brain Cingulate Gyrus	brain
34	chr1:114440800-114446400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
35	chr1:114441000-114446200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr1:114441000-114446600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr1:114441200-114445200	Strong transcription	Brain Inferior Temporal Lobe	brain
38	chr1:114441200-114446400	Weak transcription	Fetal Brain Male	brain
39	chr1:114441200-114446400	Weak transcription	A549	lung
40	chr1:114441400-114446000	Weak transcription	Colon Smooth Muscle	Colon
41	chr1:114441800-114446000	Weak transcription	HMEC	breast
42	chr1:114442000-114446000	Genic enhancers	Fetal Intestine Small	intestine
43	chr1:114442200-114446000	Strong transcription	Fetal Lung	lung
44	chr1:114442200-114446400	Genic enhancers	Primary T helper cells fromperipheralblood	blood
45	chr1:114442400-114445600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr1:114442600-114445200	Strong transcription	Duodenum Smooth Muscle	Duodenum
47	chr1:114442600-114445600	Strong transcription	HSMM	muscle
48	chr1:114442800-114445200	Weak transcription	Esophagus	oesophagus
49	chr1:114442800-114445200	Weak transcription	Hela-S3	cervix
50	chr1:114442800-114445400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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