Variant report

Variant	rs559459115
Chromosome Location	chr1:210423871-210423872
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:210313972..210316201-chr1:210423103..210425366,2	MCF-7	breast:
2	chr1:210407733..210410508-chr1:210422643..210424269,2	MCF-7	breast:
3	chr1:210422501..210425086-chr1:210426035..210428636,3	MCF-7	breast:
4	chr1:210413923..210415474-chr1:210422643..210424699,2	MCF-7	breast:
5	chr1:210423750..210428226-chr1:210545532..210548687,6	MCF-7	breast:
6	chr1:210417487..210419206-chr1:210423476..210426436,2	MCF-7	breast:
7	chr1:210404569..210409056-chr1:210423278..210427525,11	MCF-7	breast:

Variant related genes	Relation type
ENSG00000082497	Chromatin interaction
ENSG00000203706	Chromatin interaction
ENSG00000200972	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1014034	chr1:209759648-210501731	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	nsv8769	chr1:210403509-210564588	Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	126 gene(s)	inside rSNPs	diseases
3	esv3373545	chr1:210423754-210426302	Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:210407800-210424000	Weak transcription	Colonic Mucosa	Colon
2	chr1:210407800-210424000	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr1:210407800-210424200	Weak transcription	Pancreas	Pancrea
4	chr1:210408000-210424000	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr1:210410800-210424000	Weak transcription	Lung	lung
6	chr1:210410800-210424200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr1:210414000-210424000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr1:210414000-210424200	Weak transcription	Aorta	Aorta
9	chr1:210414000-210424400	Weak transcription	Ovary	ovary
10	chr1:210414400-210424000	Weak transcription	NHEK	skin
11	chr1:210415000-210424000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr1:210415800-210424000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr1:210416200-210424000	Weak transcription	Stomach Smooth Muscle	stomach
14	chr1:210420200-210424200	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr1:210420400-210424000	Weak transcription	Fetal Brain Male	brain
16	chr1:210421400-210424000	Weak transcription	Thymus	Thymus
17	chr1:210422200-210424000	Weak transcription	A549	lung
18	chr1:210423200-210424000	Enhancers	H1 Cell Line	embryonic stem cell
19	chr1:210423200-210424000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr1:210423200-210424800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr1:210423600-210424000	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
22	chr1:210423600-210424000	Enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr1:210423600-210424000	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
24	chr1:210423600-210424000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr1:210423600-210424000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr1:210423600-210424000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr1:210423600-210424200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr1:210423600-210424200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr1:210423600-210424200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr1:210423600-210424200	Bivalent Enhancer	Primary B cells from cord blood	blood
31	chr1:210423600-210424200	Enhancers	Muscle Satellite Cultured Cells	--
32	chr1:210423600-210424200	Bivalent Enhancer	Fetal Muscle Leg	muscle
33	chr1:210423600-210424200	Enhancers	HMEC	breast
34	chr1:210423600-210424200	Enhancers	HUVEC	blood vessel
35	chr1:210423600-210424400	Enhancers	Fetal Kidney	kidney
36	chr1:210423600-210424600	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
37	chr1:210423600-210424600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
38	chr1:210423600-210424800	Enhancers	Small Intestine	intestine
39	chr1:210423600-210428000	Enhancers	Fetal Heart	heart
40	chr1:210423800-210424000	Flanking Active TSS	H9 Cell Line	embryonic stem cell
41	chr1:210423800-210424000	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
42	chr1:210423800-210424000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells	blood
43	chr1:210423800-210424000	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
44	chr1:210423800-210424000	Enhancers	Brain Angular Gyrus	brain
45	chr1:210423800-210424000	Enhancers	Brain Hippocampus Middle	brain
46	chr1:210423800-210424000	Enhancers	Brain Inferior Temporal Lobe	brain
47	chr1:210423800-210424000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
48	chr1:210423800-210424000	Enhancers	Duodenum Smooth Muscle	Duodenum
49	chr1:210423800-210424000	Enhancers	Rectal Mucosa Donor 31	rectum
50	chr1:210423800-210424000	Enhancers	Rectal Smooth Muscle	rectum

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