Variant report

Variant	rs386638992
Chromosome Location	chr1:210423792-210423793
allele	AAA/GAG
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
ENSG00000200972	Chromatin interaction
ENSG00000082497	Chromatin interaction
ENSG00000203706	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:61 , 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	chr1:210411400-210423800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr1:210411800-210423800	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr1:210412000-210423800	Weak transcription	Brain Angular Gyrus	brain
10	chr1:210414000-210424000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr1:210414000-210424200	Weak transcription	Aorta	Aorta
12	chr1:210414000-210424400	Weak transcription	Ovary	ovary
13	chr1:210414400-210424000	Weak transcription	NHEK	skin
14	chr1:210414800-210423800	Weak transcription	Rectal Smooth Muscle	rectum
15	chr1:210415000-210424000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr1:210415200-210423800	Weak transcription	Colon Smooth Muscle	Colon
17	chr1:210415400-210423800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr1:210415800-210424000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr1:210416200-210424000	Weak transcription	Stomach Smooth Muscle	stomach
20	chr1:210418600-210423800	Weak transcription	NHDF-Ad	bronchial
21	chr1:210420000-210423800	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr1:210420000-210423800	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr1:210420200-210424200	Weak transcription	Pancreatic Islets	Pancreatic Islet
24	chr1:210420400-210424000	Weak transcription	Fetal Brain Male	brain
25	chr1:210420600-210423800	Weak transcription	HSMM	muscle
26	chr1:210421400-210424000	Weak transcription	Thymus	Thymus
27	chr1:210422200-210424000	Weak transcription	A549	lung
28	chr1:210422800-210423800	Enhancers	HUES64 Cell Line	embryonic stem cell
29	chr1:210423200-210424000	Enhancers	H1 Cell Line	embryonic stem cell
30	chr1:210423200-210424000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr1:210423200-210424800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr1:210423400-210423800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr1:210423400-210423800	Enhancers	HUES48 Cell Line	embryonic stem cell
34	chr1:210423600-210423800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr1:210423600-210423800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr1:210423600-210423800	Enhancers	HUES6 Cell Line	embryonic stem cell
37	chr1:210423600-210423800	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
38	chr1:210423600-210423800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
39	chr1:210423600-210423800	Bivalent Enhancer	Primary hematopoietic stem cells	blood
40	chr1:210423600-210423800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr1:210423600-210423800	Enhancers	Brain Anterior Caudate	brain
42	chr1:210423600-210423800	Enhancers	Brain Germinal Matrix	brain
43	chr1:210423600-210424000	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
44	chr1:210423600-210424000	Enhancers	Breast Myoepithelial Primary Cells	Breast
45	chr1:210423600-210424000	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
46	chr1:210423600-210424000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr1:210423600-210424000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr1:210423600-210424000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr1:210423600-210424200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr1:210423600-210424200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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