Variant report

Variant	rs509809
Chromosome Location	chr11:119777611-119777612
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:119776418..119778910-chr11:119779204..119783369,3	MCF-7	breast:
2	chr11:119763412..119765183-chr11:119776364..119779168,2	MCF-7	breast:
3	chr11:119769514..119772014-chr11:119776192..119777837,2	K562	blood:

Extended variants
information (count: 9 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs486876	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs504485	0.85[ASN][1000 genomes]
rs515278	0.84[ASN][1000 genomes]
rs523223	0.86[ASN][1000 genomes]

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	nsv1038232	chr11:119759344-119785065	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Bivalent/Poised TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv1044698	chr11:119767614-119789683	Enhancers Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Strong transcription	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv1051760	chr11:119770181-119789683	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv1048084	chr11:119771748-119808864	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	esv275318	chr11:119775811-119785360	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs509809	CD3D	cis	parietal	SCAN

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:119763000-119780800	Weak transcription	Right Atrium	heart
2	chr11:119768000-119778000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr11:119772600-119779800	Enhancers	Liver	Liver
4	chr11:119774200-119778400	Enhancers	Pancreas	Pancrea
5	chr11:119774400-119778800	Weak transcription	Brain Substantia Nigra	brain
6	chr11:119774600-119778400	Weak transcription	Brain Hippocampus Middle	brain
7	chr11:119774600-119778400	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr11:119775200-119780200	Enhancers	Placenta	Placenta
9	chr11:119775400-119780400	Weak transcription	Gastric	stomach
10	chr11:119775800-119777800	Weak transcription	Brain Germinal Matrix	brain
11	chr11:119775800-119781400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr11:119776000-119777800	Enhancers	Fetal Muscle Leg	muscle
13	chr11:119776200-119779200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr11:119776400-119778400	Active TSS	Small Intestine	intestine
15	chr11:119776600-119778800	Active TSS	Colonic Mucosa	Colon
16	chr11:119776800-119778200	Enhancers	Fetal Intestine Large	intestine
17	chr11:119776800-119780000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr11:119777000-119779000	Flanking Active TSS	Duodenum Mucosa	Duodenum
19	chr11:119777000-119779000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
20	chr11:119777000-119779600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr11:119777000-119779800	Enhancers	Fetal Lung	lung
22	chr11:119777000-119780000	Enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr11:119777200-119777800	Flanking Active TSS	Fetal Intestine Small	intestine
24	chr11:119777200-119778400	Enhancers	Left Ventricle	heart
25	chr11:119777200-119780000	Enhancers	Fetal Brain Male	brain
26	chr11:119777200-119782600	Enhancers	Fetal Heart	heart
27	chr11:119777400-119778000	Enhancers	Placenta Amnion	Placenta Amnion
28	chr11:119777400-119778400	Weak transcription	Fetal Brain Female	brain
29	chr11:119777400-119779400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
30	chr11:119777600-119777800	Flanking Active TSS	Stomach Mucosa	stomach
31	chr11:119777600-119778000	Active TSS	Rectal Mucosa Donor 29	rectum
32	chr11:119777600-119778000	Active TSS	Sigmoid Colon	Sigmoid Colon
33	chr11:119777600-119778400	Enhancers	Right Ventricle	heart
34	chr11:119777600-119778400	Enhancers	Spleen	Spleen
35	chr11:119777600-119779800	Enhancers	Esophagus	oesophagus
36	chr11:119777600-119783000	Enhancers	Brain Angular Gyrus	brain

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