Variant report

Variant	rs369909042
Chromosome Location	chr1:61548716-61548717
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:61548098..61549083-chr19:39897034..39897598,2	Hela-S3	cervix:
2	chr1:61513320..61528030-chr1:61539604..61553659,57	K562	blood:
3	chr1:61541387..61547328-chr1:61547444..61551394,9	MCF-7	breast:
4	chr1:61548698..61549315-chr14:75745153..75745865,2	Hela-S3	cervix:
5	chr1:61512478..61530748-chr1:61539371..61553659,68	K562	blood:

Variant related genes	Relation type
ENSG00000170345	Chromatin interaction
ENSG00000162599	Chromatin interaction
ENSG00000128016	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3366378	chr1:61547039-61549112	Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
2	esv19873	chr1:61547702-61549738	Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Enhancers	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
3	nsv546369	chr1:61547731-61549300	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Enhancers	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
4	nsv546370	chr1:61547731-61549494	Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
5	esv1803730	chr1:61547843-61549494	Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
6	esv3424493	chr1:61548189-61550737	Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 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	chr1:61545600-61550600	Active TSS	Brain Inferior Temporal Lobe	brain
2	chr1:61545600-61552000	Active TSS	Breast Myoepithelial Primary Cells	Breast
3	chr1:61545600-61553800	Active TSS	Aorta	Aorta
4	chr1:61545800-61550600	Active TSS	Fetal Muscle Trunk	muscle
5	chr1:61545800-61550600	Active TSS	Right Ventricle	heart
6	chr1:61546800-61549800	Active TSS	Brain Cingulate Gyrus	brain
7	chr1:61546800-61550600	Active TSS	Colonic Mucosa	Colon
8	chr1:61547000-61549600	Active TSS	Brain Anterior Caudate	brain
9	chr1:61547000-61549800	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
10	chr1:61547000-61549800	Active TSS	Pancreatic Islets	Pancreatic Islet
11	chr1:61547000-61549800	Active TSS	Sigmoid Colon	Sigmoid Colon
12	chr1:61547000-61550200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr1:61547000-61550200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr1:61547000-61550400	Active TSS	Brain Angular Gyrus	brain
15	chr1:61547000-61550400	Active TSS	HSMMtube	muscle
16	chr1:61547000-61550600	Active TSS	Left Ventricle	heart
17	chr1:61547000-61550600	Active TSS	Ovary	ovary
18	chr1:61547000-61552000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr1:61547000-61552000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
20	chr1:61547000-61554200	Active TSS	Right Atrium	heart
21	chr1:61547200-61549600	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr1:61547200-61549800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr1:61547200-61549800	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr1:61547200-61549800	Active TSS	Pancreas	Pancrea
25	chr1:61547200-61550000	Active TSS	Fetal Adrenal Gland	Adrenal Gland
26	chr1:61547200-61550200	Active TSS	Small Intestine	intestine
27	chr1:61547200-61550200	Bivalent/Poised TSS	HepG2	liver
28	chr1:61547200-61550200	Active TSS	NHDF-Ad	bronchial
29	chr1:61547200-61550400	Active TSS	Brain Substantia Nigra	brain
30	chr1:61547200-61550400	Active TSS	Esophagus	oesophagus
31	chr1:61547200-61550400	Active TSS	A549	lung
32	chr1:61547200-61550600	Active TSS	Colon Smooth Muscle	Colon
33	chr1:61547200-61550800	Active TSS	Rectal Mucosa Donor 29	rectum
34	chr1:61547200-61551400	Active TSS	Brain Hippocampus Middle	brain
35	chr1:61547200-61552000	Active TSS	Duodenum Smooth Muscle	Duodenum
36	chr1:61547200-61552200	Active TSS	Rectal Smooth Muscle	rectum
37	chr1:61547400-61549400	Active TSS	Spleen	Spleen
38	chr1:61547400-61549600	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr1:61547400-61549600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr1:61547400-61549600	Active TSS	Gastric	stomach
41	chr1:61547400-61549800	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
42	chr1:61547400-61549800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr1:61547400-61549800	Active TSS	Lung	lung
44	chr1:61547400-61550000	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr1:61547400-61550000	Active TSS	Fetal Heart	heart
46	chr1:61547400-61550000	Active TSS	Rectal Mucosa Donor 31	rectum
47	chr1:61547400-61550000	Active TSS	Stomach Mucosa	stomach
48	chr1:61547400-61550200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr1:61547400-61550400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
50	chr1:61547400-61550600	Active TSS	Fetal Intestine Large	intestine

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