Variant report

Variant	rs773394
Chromosome Location	chr7:40042953-40042954
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:39992705..39994767-chr7:40040920..40043283,2	K562	blood:

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]
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]
rs773419	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	chr7:39993600-40048200	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	chr7:40023400-40046800	Weak transcription	HMEC	breast
5	chr7:40023800-40043200	Weak transcription	Stomach Smooth Muscle	stomach
6	chr7:40025600-40046800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr7:40025600-40055400	Weak transcription	Rectal Smooth Muscle	rectum
8	chr7:40025800-40043200	Weak transcription	Left Ventricle	heart
9	chr7:40025800-40054800	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr7:40025800-40055400	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr7:40025800-40055400	Weak transcription	Fetal Heart	heart
12	chr7:40025800-40055400	Weak transcription	Stomach Mucosa	stomach
13	chr7:40025800-40059600	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr7:40025800-40062800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr7:40025800-40082200	Weak transcription	Spleen	Spleen
16	chr7:40026000-40071200	Weak transcription	Brain Germinal Matrix	brain
17	chr7:40026600-40096800	Weak transcription	Right Ventricle	heart
18	chr7:40027400-40045400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr7:40027600-40043200	Weak transcription	Pancreas	Pancrea
20	chr7:40027800-40047400	Weak transcription	Fetal Kidney	kidney
21	chr7:40027800-40047600	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr7:40027800-40047800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr7:40027800-40048400	Weak transcription	Brain Cingulate Gyrus	brain
24	chr7:40027800-40049600	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr7:40027800-40053800	Weak transcription	HepG2	liver
26	chr7:40027800-40054800	Weak transcription	Aorta	Aorta
27	chr7:40027800-40055400	Weak transcription	Fetal Brain Female	brain
28	chr7:40028000-40043000	Weak transcription	NHEK	skin
29	chr7:40028000-40047400	Weak transcription	Brain Hippocampus Middle	brain
30	chr7:40028000-40047400	Weak transcription	HSMMtube	muscle
31	chr7:40028000-40047800	Weak transcription	NH-A	brain
32	chr7:40028000-40077800	Weak transcription	Placenta Amnion	Placenta Amnion
33	chr7:40028000-40127800	Weak transcription	Colonic Mucosa	Colon
34	chr7:40028200-40047400	Weak transcription	Hela-S3	cervix
35	chr7:40028200-40047800	Weak transcription	Cortex derived primary cultured neurospheres	brain
36	chr7:40028200-40048000	Weak transcription	HUES6 Cell Line	embryonic stem cell
37	chr7:40028200-40073000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
38	chr7:40028600-40049400	Weak transcription	Thymus	Thymus
39	chr7:40032000-40043200	Weak transcription	Gastric	stomach
40	chr7:40032200-40049400	Weak transcription	Lung	lung
41	chr7:40032200-40049600	Weak transcription	Fetal Stomach	stomach
42	chr7:40032200-40049800	Weak transcription	Ovary	ovary
43	chr7:40032800-40047600	Weak transcription	Brain Anterior Caudate	brain
44	chr7:40033000-40043400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
45	chr7:40033200-40047400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
46	chr7:40033600-40047600	Weak transcription	Brain Angular Gyrus	brain
47	chr7:40034200-40043000	Weak transcription	Pancreatic Islets	Pancreatic Islet
48	chr7:40034200-40043200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
49	chr7:40034400-40043200	Weak transcription	Colon Smooth Muscle	Colon
50	chr7:40034400-40072200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood

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