Variant report

Variant	rs773419
Chromosome Location	chr7:40048492-40048493
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs1082021	1.00[AMR][1000 genomes]
rs1082022	1.00[AMR][1000 genomes]
rs1082024	1.00[AMR][1000 genomes]
rs1082026	1.00[AMR][1000 genomes]
rs1082027	1.00[AMR][1000 genomes]
rs1082033	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12113257	1.00[AMR][1000 genomes]
rs12113345	1.00[AMR][1000 genomes]
rs1257697	1.00[AMR][1000 genomes]
rs1257711	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1314087	1.00[AMR][1000 genomes]
rs1829909	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2687597	0.81[AFR][1000 genomes]
rs55825872	1.00[AMR][1000 genomes]
rs55913371	1.00[AMR][1000 genomes]
rs56684313	1.00[AMR][1000 genomes]
rs58681548	1.00[AMR][1000 genomes]
rs73687511	1.00[AMR][1000 genomes]
rs73687519	1.00[AMR][1000 genomes]
rs73687565	1.00[AMR][1000 genomes]
rs773380	1.00[AMR][1000 genomes]
rs773387	1.00[AMR][1000 genomes]
rs773388	1.00[AMR][1000 genomes]
rs773394	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs773396	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs773400	1.00[AMR][1000 genomes]
rs773401	1.00[AMR][1000 genomes]
rs773404	1.00[AMR][1000 genomes]
rs773406	1.00[AMR][1000 genomes]
rs773408	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs773416	1.00[AMR][1000 genomes]
rs773417	1.00[AMR][1000 genomes]
rs773418	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs773420	1.00[AMR][1000 genomes]
rs773421	1.00[AMR][1000 genomes]
rs773422	1.00[AMR][1000 genomes]
rs773423	1.00[AMR][1000 genomes]
rs808913	1.00[AMR][1000 genomes]
rs9942572	1.00[AMR][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:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:40020400-40077600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr7:40025600-40055400	Weak transcription	Rectal Smooth Muscle	rectum
3	chr7:40025800-40054800	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr7:40025800-40055400	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr7:40025800-40055400	Weak transcription	Fetal Heart	heart
6	chr7:40025800-40055400	Weak transcription	Stomach Mucosa	stomach
7	chr7:40025800-40059600	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr7:40025800-40062800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr7:40025800-40082200	Weak transcription	Spleen	Spleen
10	chr7:40026000-40071200	Weak transcription	Brain Germinal Matrix	brain
11	chr7:40026600-40096800	Weak transcription	Right Ventricle	heart
12	chr7:40027800-40049600	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr7:40027800-40053800	Weak transcription	HepG2	liver
14	chr7:40027800-40054800	Weak transcription	Aorta	Aorta
15	chr7:40027800-40055400	Weak transcription	Fetal Brain Female	brain
16	chr7:40028000-40077800	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr7:40028000-40127800	Weak transcription	Colonic Mucosa	Colon
18	chr7:40028200-40073000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
19	chr7:40028600-40049400	Weak transcription	Thymus	Thymus
20	chr7:40032200-40049400	Weak transcription	Lung	lung
21	chr7:40032200-40049600	Weak transcription	Fetal Stomach	stomach
22	chr7:40032200-40049800	Weak transcription	Ovary	ovary
23	chr7:40034400-40072200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
24	chr7:40036600-40053000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr7:40038800-40050000	Strong transcription	Primary T cells fromperipheralblood	blood
26	chr7:40041400-40051000	Strong transcription	Primary B cells from peripheral blood	blood
27	chr7:40041400-40051600	Strong transcription	Primary T helper cells fromperipheralblood	blood
28	chr7:40042600-40055400	Weak transcription	Psoas Muscle	Psoas
29	chr7:40042800-40070400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
30	chr7:40043000-40061600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
31	chr7:40043400-40054800	Weak transcription	Gastric	stomach
32	chr7:40043600-40048800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr7:40043600-40049000	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr7:40043600-40049200	Weak transcription	HSMM	muscle
35	chr7:40043600-40049600	Weak transcription	Esophagus	oesophagus
36	chr7:40043600-40049800	Weak transcription	Primary neutrophils fromperipheralblood	blood
37	chr7:40043600-40052400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr7:40043600-40054000	Weak transcription	Pancreas	Pancrea
39	chr7:40043600-40057800	Weak transcription	HUVEC	blood vessel
40	chr7:40043600-40058000	Weak transcription	Fetal Brain Male	brain
41	chr7:40043600-40059800	Weak transcription	H1 Cell Line	embryonic stem cell
42	chr7:40043600-40067000	Weak transcription	K562	blood
43	chr7:40043600-40071600	Weak transcription	Stomach Smooth Muscle	stomach
44	chr7:40043600-40076000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr7:40043600-40079800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
46	chr7:40043600-40095200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
47	chr7:40043600-40127800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
48	chr7:40043800-40049000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
49	chr7:40043800-40049400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr7:40043800-40049400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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