Variant report

Variant	rs73091435
Chromosome Location	chr3:53209438-53209439
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:53187108..53189082-chr3:53208380..53210944,2	MCF-7	breast:
2	chr3:53163779..53165542-chr3:53208632..53210403,2	MCF-7	breast:
3	chr3:53189193..53191628-chr3:53207314..53210286,3	MCF-7	breast:
4	chr3:53204421..53206931-chr3:53208299..53209885,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000163932	Chromatin interaction
ENSG00000163933	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs17052826	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2230493	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2306570	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6764111	0.81[EUR][1000 genomes]
rs73091417	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73091425	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:53196400-53210200	Weak transcription	Psoas Muscle	Psoas
2	chr3:53196400-53212400	Weak transcription	Aorta	Aorta
3	chr3:53197200-53213400	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr3:53197600-53227600	Weak transcription	Hela-S3	cervix
5	chr3:53197800-53214000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr3:53198000-53215600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr3:53200600-53229600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr3:53201200-53210400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr3:53201400-53212400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr3:53201400-53212600	Weak transcription	Ovary	ovary
11	chr3:53201400-53212800	Weak transcription	Left Ventricle	heart
12	chr3:53201600-53212800	Weak transcription	NHDF-Ad	bronchial
13	chr3:53201600-53228000	Weak transcription	NH-A	brain
14	chr3:53202000-53212400	Weak transcription	Colon Smooth Muscle	Colon
15	chr3:53202000-53212600	Weak transcription	Primary T helper cells PMA-I stimulated	--
16	chr3:53202000-53228400	Weak transcription	Fetal Kidney	kidney
17	chr3:53202800-53229600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
18	chr3:53203200-53226800	Strong transcription	Fetal Stomach	stomach
19	chr3:53203600-53211400	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
20	chr3:53203600-53212800	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr3:53203600-53229800	Weak transcription	A549	lung
22	chr3:53203800-53210600	Genic enhancers	Spleen	Spleen
23	chr3:53204000-53210400	Genic enhancers	Primary B cells from peripheral blood	blood
24	chr3:53204000-53212600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr3:53204200-53211400	Weak transcription	Primary T helper cells fromperipheralblood	blood
26	chr3:53204600-53213600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr3:53205200-53210600	Genic enhancers	Rectal Mucosa Donor 29	rectum
28	chr3:53205400-53210200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr3:53205600-53210400	Weak transcription	Brain Cingulate Gyrus	brain
30	chr3:53205600-53211400	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr3:53205600-53229800	Weak transcription	Brain Angular Gyrus	brain
32	chr3:53205800-53213800	Weak transcription	Small Intestine	intestine
33	chr3:53206000-53212400	Weak transcription	Fetal Lung	lung
34	chr3:53206000-53212600	Weak transcription	Skeletal Muscle Male	skeletal muscle
35	chr3:53206000-53213600	Weak transcription	Brain Substantia Nigra	brain
36	chr3:53206000-53213800	Weak transcription	Skeletal Muscle Female	skeletal muscle
37	chr3:53206000-53219400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr3:53206200-53209600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr3:53206200-53210200	Weak transcription	Primary T cells fromperipheralblood	blood
40	chr3:53206200-53211800	Genic enhancers	Adipose Nuclei	Adipose
41	chr3:53206400-53211000	Strong transcription	Rectal Mucosa Donor 31	rectum
42	chr3:53206400-53212400	Weak transcription	Cortex derived primary cultured neurospheres	brain
43	chr3:53206400-53216600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr3:53206400-53217000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr3:53206600-53209800	Weak transcription	Stomach Mucosa	stomach
46	chr3:53206600-53210400	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
47	chr3:53206600-53212400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr3:53206600-53212600	Weak transcription	Stomach Smooth Muscle	stomach
49	chr3:53206600-53212800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
50	chr3:53206600-53213200	Weak transcription	HUES64 Cell Line	embryonic stem cell

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