Variant report

Variant	rs73091417
Chromosome Location	chr3:53201613-53201614
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:53201349..53203346-chr3:53232423..53233942,2	MCF-7	breast:
2	chr3:53199183..53202732-chr3:53204136..53207026,5	K562	blood:
3	chr3:53194953..53199207-chr3:53199454..53201631,4	K562	blood:
4	chr3:53187180..53188996-chr3:53201461..53203249,2	MCF-7	breast:
5	chr3:53201393..53204034-chr3:53289191..53291419,2	MCF-7	breast:
6	chr3:53199818..53201927-chr3:53878071..53880681,2	MCF-7	breast:
7	chr3:53195153..53196714-chr3:53199399..53202103,2	K562	blood:
8	chr3:53199690..53202730-chr3:53210054..53211867,3	MCF-7	breast:
9	chr3:53150999..53152695-chr3:53199764..53202403,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000016391	Chromatin interaction
ENSG00000056736	Chromatin interaction
ENSG00000163931	Chromatin interaction
ENSG00000163932	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs17052826	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2230493	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2306570	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73091425	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73091435	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834699	chr3:53151876-53325808	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv517233	chr3:53175557-53321002	Transcr. at gene 5' and 3' Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:53196400-53202000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr3:53196400-53210200	Weak transcription	Psoas Muscle	Psoas
3	chr3:53196400-53212400	Weak transcription	Aorta	Aorta
4	chr3:53196600-53204000	Weak transcription	Small Intestine	intestine
5	chr3:53197000-53202000	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr3:53197200-53201800	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr3:53197200-53205400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr3:53197200-53213400	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr3:53197400-53202000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr3:53197400-53202200	Weak transcription	Brain Substantia Nigra	brain
11	chr3:53197400-53203000	Genic enhancers	Primary B cells from peripheral blood	blood
12	chr3:53197400-53207000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
13	chr3:53197600-53201800	Enhancers	Stomach Mucosa	stomach
14	chr3:53197600-53202000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr3:53197600-53204200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr3:53197600-53206600	Genic enhancers	Fetal Intestine Small	intestine
17	chr3:53197600-53206800	Weak transcription	Primary T cells from cord blood	blood
18	chr3:53197600-53227600	Weak transcription	Hela-S3	cervix
19	chr3:53197800-53202800	Enhancers	Brain Anterior Caudate	brain
20	chr3:53197800-53203800	Weak transcription	Thymus	Thymus
21	chr3:53197800-53214000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
22	chr3:53198000-53201800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr3:53198000-53206800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr3:53198000-53215600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
25	chr3:53198600-53202200	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
26	chr3:53198800-53202000	Genic enhancers	Spleen	Spleen
27	chr3:53198800-53202200	Genic enhancers	Rectal Mucosa Donor 31	rectum
28	chr3:53199200-53202600	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr3:53199600-53202400	Enhancers	Brain Hippocampus Middle	brain
30	chr3:53199600-53202400	Strong transcription	NHEK	skin
31	chr3:53199600-53203000	Enhancers	Primary T helper cells fromperipheralblood	blood
32	chr3:53199600-53205000	Genic enhancers	Esophagus	oesophagus
33	chr3:53199800-53202000	Enhancers	Fetal Muscle Trunk	muscle
34	chr3:53199800-53202400	Enhancers	Skeletal Muscle Female	skeletal muscle
35	chr3:53199800-53203200	Enhancers	Placenta	Placenta
36	chr3:53200000-53201800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr3:53200000-53202400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
38	chr3:53200200-53202800	Genic enhancers	Fetal Stomach	stomach
39	chr3:53200200-53204000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
40	chr3:53200200-53205800	Enhancers	Fetal Muscle Leg	muscle
41	chr3:53200200-53206400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr3:53200200-53207200	Enhancers	Fetal Thymus	thymus
43	chr3:53200400-53201800	Enhancers	Brain Germinal Matrix	brain
44	chr3:53200400-53202000	Enhancers	Brain Inferior Temporal Lobe	brain
45	chr3:53200400-53202000	Enhancers	Osteobl	bone
46	chr3:53200400-53202600	Enhancers	Liver	Liver
47	chr3:53200400-53202800	Enhancers	HSMMtube	muscle
48	chr3:53200400-53205000	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
49	chr3:53200400-53206200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr3:53200600-53201800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin

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