Variant report

Variant	rs4718422
Chromosome Location	chr7:66359269-66359270
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:66308146..66309778-chr7:66358279..66360112,2	K562	blood:
2	chr7:65986212..65988963-chr7:66358984..66361433,2	K562	blood:

Extended variants
information (count: 25 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10267335	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10281796	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11028	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12530806	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12536410	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12698546	0.85[EUR][1000 genomes]
rs12698547	0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs13220977	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13227468	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13231140	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13241598	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28441684	0.82[EUR][1000 genomes]
rs28648401	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2901311	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs34577323	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3800817	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4717328	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4717331	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4718412	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4718424	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4718430	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs68168107	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1026559	chr7:65617368-66370805	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	116 gene(s)	inside rSNPs	diseases
2	nsv888329	chr7:66234585-66376095	Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv981514	chr7:66310139-66366240	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs4718422	RP4-756H11.3	cis	Esophagus Muscularis	GTEx
rs4718422	RP4-756H11.3	cis	lung	GTEx
rs4718422	RP4-756H11.3	cis	Thyroid	GTEx

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:66311000-66368000	Weak transcription	Colon Smooth Muscle	Colon
2	chr7:66311000-66385200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr7:66311200-66385200	Weak transcription	Brain Angular Gyrus	brain
4	chr7:66317200-66364400	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr7:66319400-66364800	Weak transcription	Primary T helper cells fromperipheralblood	blood
6	chr7:66321200-66367800	Weak transcription	Aorta	Aorta
7	chr7:66322400-66364200	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr7:66324400-66363800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr7:66325200-66360200	Weak transcription	Psoas Muscle	Psoas
10	chr7:66325200-66366400	Weak transcription	Primary hematopoietic stem cells	blood
11	chr7:66325400-66366400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr7:66325400-66369400	Weak transcription	Fetal Brain Female	brain
13	chr7:66325600-66363600	Weak transcription	Primary B cells from cord blood	blood
14	chr7:66325600-66363600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr7:66325600-66373000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
16	chr7:66325800-66359600	Weak transcription	Spleen	Spleen
17	chr7:66325800-66363400	Weak transcription	Primary B cells from peripheral blood	blood
18	chr7:66325800-66363400	Weak transcription	Brain Substantia Nigra	brain
19	chr7:66325800-66365800	Weak transcription	Esophagus	oesophagus
20	chr7:66325800-66366400	Weak transcription	Right Ventricle	heart
21	chr7:66325800-66367000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr7:66325800-66367600	Weak transcription	Primary T cells fromperipheralblood	blood
23	chr7:66326000-66362000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr7:66326000-66363600	Weak transcription	Gastric	stomach
25	chr7:66326400-66362600	Weak transcription	Brain Hippocampus Middle	brain
26	chr7:66326400-66363000	Weak transcription	Lung	lung
27	chr7:66326400-66368200	Weak transcription	Rectal Smooth Muscle	rectum
28	chr7:66326400-66371800	Weak transcription	Brain Cingulate Gyrus	brain
29	chr7:66326600-66363000	Weak transcription	Fetal Stomach	stomach
30	chr7:66328200-66367000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr7:66329600-66362000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr7:66329800-66372000	Weak transcription	Stomach Smooth Muscle	stomach
33	chr7:66330400-66366000	Weak transcription	Fetal Thymus	thymus
34	chr7:66331800-66378400	Weak transcription	A549	lung
35	chr7:66333000-66371600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr7:66333800-66364000	Weak transcription	H9 Cell Line	embryonic stem cell
37	chr7:66333800-66371800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
38	chr7:66334200-66367600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
39	chr7:66335000-66361800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr7:66335000-66363800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
41	chr7:66335400-66371400	Weak transcription	H1 Cell Line	embryonic stem cell
42	chr7:66335600-66361400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr7:66335600-66363800	Weak transcription	Adipose Nuclei	Adipose
44	chr7:66336200-66364600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr7:66336200-66366400	Weak transcription	Thymus	Thymus
46	chr7:66336200-66369400	Weak transcription	Duodenum Mucosa	Duodenum
47	chr7:66340800-66361200	Weak transcription	Fetal Lung	lung
48	chr7:66342800-66370600	Weak transcription	NHLF	lung
49	chr7:66343000-66364200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr7:66343000-66367600	Weak transcription	Muscle Satellite Cultured Cells	--

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