Variant report

Variant	rs548462646
Chromosome Location	chr1:113798083-113798084
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:113796275..113798193-chr1:113931780..113933587,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000081026	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv18293	chr1:113375437-113852815	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
2	nsv1007045	chr1:113425222-113839910	Genic enhancers Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
3	nsv427719	chr1:113570229-114078388	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
4	esv3354454	chr1:113797629-113802027	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:113791400-113798400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr1:113793800-113798600	Enhancers	Rectal Mucosa Donor 31	rectum
3	chr1:113794600-113799600	Enhancers	Fetal Intestine Small	intestine
4	chr1:113794800-113798200	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr1:113794800-113798600	Enhancers	Fetal Intestine Large	intestine
6	chr1:113795600-113798200	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr1:113795600-113798600	Weak transcription	Colonic Mucosa	Colon
8	chr1:113795600-113799000	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr1:113796000-113799200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr1:113796000-113799200	Enhancers	Liver	Liver
11	chr1:113796000-113799400	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr1:113796000-113799600	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr1:113796200-113799400	Enhancers	Stomach Mucosa	stomach
14	chr1:113796600-113799400	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr1:113796600-113799600	Enhancers	H1 Cell Line	embryonic stem cell
16	chr1:113797000-113799600	Enhancers	Fetal Lung	lung
17	chr1:113797400-113798400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr1:113797600-113798400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr1:113797600-113798600	Weak transcription	Pancreas	Pancrea
20	chr1:113797600-113798800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr1:113797600-113798800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr1:113797600-113798800	Enhancers	HepG2	liver
23	chr1:113797600-113799200	Enhancers	iPS-20b Cell Line	embryonic stem cell
24	chr1:113797800-113799000	Active TSS	Rectal Mucosa Donor 29	rectum
25	chr1:113797800-113799200	Enhancers	ES-I3 Cell Line	embryonic stem cell
26	chr1:113798000-113798200	Flanking Active TSS	Duodenum Mucosa	Duodenum
27	chr1:113798000-113798200	Flanking Active TSS	Fetal Kidney	kidney
28	chr1:113798000-113798400	Weak transcription	Fetal Stomach	stomach
29	chr1:113798000-113799000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
30	chr1:113798000-113799000	Enhancers	Cortex derived primary cultured neurospheres	brain
31	chr1:113798000-113799000	Enhancers	Brain Germinal Matrix	brain
32	chr1:113798000-113799000	Enhancers	NHEK	skin
33	chr1:113798000-113799200	Enhancers	H9 Cell Line	embryonic stem cell
34	chr1:113798000-113799200	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr1:113798000-113799400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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