Variant report

Variant	rs73390795
Chromosome Location	chr7:40046856-40046857
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	chr7:39987570..39989729-chr7:40044473..40047444,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000259826	Chromatin interaction
ENSG00000065883	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs59518794	0.82[AFR][1000 genomes]
rs61607468	0.82[AFR][1000 genomes]
rs73392711	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73392718	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73392720	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73392723	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73392743	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73392746	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73392784	0.86[AFR][1000 genomes]
rs73392788	0.86[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv887973	chr7:39772654-40110720	Strong transcription Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
2	nsv887975	chr7:39858378-40124137	Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
3	nsv1015322	chr7:40006195-40141195	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
4	esv2761319	chr7:40006195-40142139	Strong transcription Enhancers Weak transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
5	nsv464436	chr7:40018693-40133044	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	nsv606706	chr7:40018693-40133044	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
7	nsv606707	chr7:40021044-40133044	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
8	nsv606708	chr7:40021044-40157040	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
9	nsv887978	chr7:40030488-40124137	Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:39993600-40048200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr7:40018600-40047800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr7:40020400-40077600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr7:40025600-40055400	Weak transcription	Rectal Smooth Muscle	rectum
5	chr7:40025800-40054800	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr7:40025800-40055400	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr7:40025800-40055400	Weak transcription	Fetal Heart	heart
8	chr7:40025800-40055400	Weak transcription	Stomach Mucosa	stomach
9	chr7:40025800-40059600	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr7:40025800-40062800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr7:40025800-40082200	Weak transcription	Spleen	Spleen
12	chr7:40026000-40071200	Weak transcription	Brain Germinal Matrix	brain
13	chr7:40026600-40096800	Weak transcription	Right Ventricle	heart
14	chr7:40027800-40047400	Weak transcription	Fetal Kidney	kidney
15	chr7:40027800-40047600	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr7:40027800-40047800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr7:40027800-40048400	Weak transcription	Brain Cingulate Gyrus	brain
18	chr7:40027800-40049600	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr7:40027800-40053800	Weak transcription	HepG2	liver
20	chr7:40027800-40054800	Weak transcription	Aorta	Aorta
21	chr7:40027800-40055400	Weak transcription	Fetal Brain Female	brain
22	chr7:40028000-40047400	Weak transcription	Brain Hippocampus Middle	brain
23	chr7:40028000-40047400	Weak transcription	HSMMtube	muscle
24	chr7:40028000-40047800	Weak transcription	NH-A	brain
25	chr7:40028000-40077800	Weak transcription	Placenta Amnion	Placenta Amnion
26	chr7:40028000-40127800	Weak transcription	Colonic Mucosa	Colon
27	chr7:40028200-40047400	Weak transcription	Hela-S3	cervix
28	chr7:40028200-40047800	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr7:40028200-40048000	Weak transcription	HUES6 Cell Line	embryonic stem cell
30	chr7:40028200-40073000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
31	chr7:40028600-40049400	Weak transcription	Thymus	Thymus
32	chr7:40032200-40049400	Weak transcription	Lung	lung
33	chr7:40032200-40049600	Weak transcription	Fetal Stomach	stomach
34	chr7:40032200-40049800	Weak transcription	Ovary	ovary
35	chr7:40032800-40047600	Weak transcription	Brain Anterior Caudate	brain
36	chr7:40033200-40047400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
37	chr7:40033600-40047600	Weak transcription	Brain Angular Gyrus	brain
38	chr7:40034400-40072200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
39	chr7:40036600-40053000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr7:40038800-40050000	Strong transcription	Primary T cells fromperipheralblood	blood
41	chr7:40039600-40047800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
42	chr7:40040000-40047800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
43	chr7:40041400-40051000	Strong transcription	Primary B cells from peripheral blood	blood
44	chr7:40041400-40051600	Strong transcription	Primary T helper cells fromperipheralblood	blood
45	chr7:40042600-40055400	Weak transcription	Psoas Muscle	Psoas
46	chr7:40042800-40070400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
47	chr7:40043000-40061600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
48	chr7:40043400-40047400	Weak transcription	Brain Substantia Nigra	brain
49	chr7:40043400-40047400	Weak transcription	Osteobl	bone
50	chr7:40043400-40054800	Weak transcription	Gastric	stomach

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