Variant report

Variant	rs773615
Chromosome Location	chr1:113796814-113796815
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:113790829..113793127-chr1:113794149..113797114,4	MCF-7	breast:
2	chr1:113796275..113798193-chr1:113931780..113933587,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000081026	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs773616	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs773617	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs773618	0.87[EUR][1000 genomes]
rs773619	0.81[ASN][1000 genomes]
rs773620	0.82[ASN][1000 genomes]
rs796472	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]

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	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

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs773615	CDKN1A	trans	lymphoblastoid	RTeQTL
rs773615	ADORA3	cis	cerebellum	SCAN

Chromatin state (count:26 , 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	chr1:113794800-113797600	Enhancers	Rectal Mucosa Donor 29	rectum
5	chr1:113794800-113798200	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr1:113794800-113798600	Enhancers	Fetal Intestine Large	intestine
7	chr1:113795200-113798000	Enhancers	Duodenum Mucosa	Duodenum
8	chr1:113795400-113797200	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr1:113795400-113798000	Enhancers	Fetal Kidney	kidney
10	chr1:113795600-113797400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr1:113795600-113798200	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr1:113795600-113798600	Weak transcription	Colonic Mucosa	Colon
13	chr1:113795600-113799000	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr1:113796000-113797200	Enhancers	iPS-20b Cell Line	embryonic stem cell
15	chr1:113796000-113799200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
16	chr1:113796000-113799200	Enhancers	Liver	Liver
17	chr1:113796000-113799400	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr1:113796000-113799600	Enhancers	iPS-15b Cell Line	embryonic stem cell
19	chr1:113796200-113797200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr1:113796200-113797200	Weak transcription	Esophagus	oesophagus
21	chr1:113796200-113797200	Weak transcription	Gastric	stomach
22	chr1:113796200-113799400	Enhancers	Stomach Mucosa	stomach
23	chr1:113796600-113798000	Weak transcription	Brain Germinal Matrix	brain
24	chr1:113796600-113799400	Enhancers	iPS-18 Cell Line	embryonic stem cell
25	chr1:113796600-113799600	Enhancers	H1 Cell Line	embryonic stem cell
26	chr1:113796800-113797600	Enhancers	Pancreas	Pancrea

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