Variant report

Variant	rs553958268
Chromosome Location	chr1:112945724-112945725
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:112937871..112939945-chr1:112944529..112946722,2	K562	blood:
2	chr1:112945712..112947668-chr1:112948180..112951090,2	MCF-7	breast:
3	chr1:112940392..112943025-chr1:112944284..112946532,3	K562	blood:

Variant related genes	Relation type
ENSG00000143079	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	esv13370	chr1:112693290-113246263	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	nsv1002971	chr1:112924725-113740584	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	166 gene(s)	inside rSNPs	diseases
3	nsv535059	chr1:112924725-113740584	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	166 gene(s)	inside rSNPs	diseases
4	nsv831081	chr1:112934920-113122640	Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	esv1850997	chr1:112944472-112993754	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:112940000-112945800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr1:112940000-112950600	Weak transcription	Lung	lung
3	chr1:112940000-112952200	Weak transcription	Esophagus	oesophagus
4	chr1:112940000-112954400	Weak transcription	Fetal Muscle Leg	muscle
5	chr1:112940000-112956400	Weak transcription	Left Ventricle	heart
6	chr1:112940000-112961400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr1:112940200-112958400	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr1:112940600-112945800	Weak transcription	Ovary	ovary
9	chr1:112940600-112958800	Weak transcription	Colonic Mucosa	Colon
10	chr1:112940600-112962000	Weak transcription	Psoas Muscle	Psoas
11	chr1:112940800-112946000	Weak transcription	HepG2	liver
12	chr1:112940800-112946800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr1:112940800-112955000	Weak transcription	Adipose Nuclei	Adipose
14	chr1:112941000-112946400	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr1:112941000-112946400	Weak transcription	Aorta	Aorta
16	chr1:112941000-112949000	Weak transcription	Fetal Lung	lung
17	chr1:112941000-112949000	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr1:112941200-112946600	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr1:112941200-112949200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr1:112941200-112955000	Weak transcription	Duodenum Mucosa	Duodenum
21	chr1:112941200-112955000	Weak transcription	Fetal Kidney	kidney
22	chr1:112941400-112946000	Weak transcription	Rectal Smooth Muscle	rectum
23	chr1:112941400-112954400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr1:112941400-112956400	Weak transcription	Fetal Intestine Small	intestine
25	chr1:112941400-112959400	Weak transcription	Brain Germinal Matrix	brain
26	chr1:112941600-112959600	Weak transcription	Fetal Brain Female	brain
27	chr1:112942400-112952200	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr1:112942400-112988200	Weak transcription	Small Intestine	intestine
29	chr1:112942600-112946400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr1:112942600-112947000	Weak transcription	Right Atrium	heart
31	chr1:112942600-112954800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr1:112942600-112955400	Weak transcription	Fetal Intestine Large	intestine
33	chr1:112942600-112966400	Weak transcription	Spleen	Spleen
34	chr1:112942600-112967000	Weak transcription	Pancreas	Pancrea
35	chr1:112942800-112946200	Enhancers	iPS-20b Cell Line	embryonic stem cell
36	chr1:112942800-112946600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr1:112943000-112947000	Weak transcription	Stomach Mucosa	stomach
38	chr1:112943400-112949200	Enhancers	iPS-15b Cell Line	embryonic stem cell
39	chr1:112943400-112950400	Enhancers	NHDF-Ad	bronchial
40	chr1:112943600-112945800	Enhancers	HUES48 Cell Line	embryonic stem cell
41	chr1:112943600-112945800	Enhancers	Muscle Satellite Cultured Cells	--
42	chr1:112943800-112946200	Enhancers	NH-A	brain
43	chr1:112943800-112946600	Enhancers	HUES6 Cell Line	embryonic stem cell
44	chr1:112943800-112946600	Enhancers	HUES64 Cell Line	embryonic stem cell
45	chr1:112943800-112946600	Enhancers	iPS-18 Cell Line	embryonic stem cell
46	chr1:112943800-112947400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr1:112943800-112947600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr1:112944000-112946400	Enhancers	HSMMtube	muscle
49	chr1:112944000-112947400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
50	chr1:112944200-112945800	Enhancers	Sigmoid Colon	Sigmoid Colon

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