Variant report

Variant	rs68168107
Chromosome Location	chr7:66255238-66255239
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

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

rs_ID	r²[population]
rs10267335	0.89[EUR][1000 genomes]
rs10281796	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11028	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12530806	0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12536410	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12698546	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12698547	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13220977	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13227468	0.85[EUR][1000 genomes]
rs13231140	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13241598	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28441684	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs28648401	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2901311	0.85[EUR][1000 genomes]
rs34577323	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3800817	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4717328	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4717331	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4718412	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4718422	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4718424	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4718430	0.85[EUR][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	nsv888328	chr7:66173040-66327654	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	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

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs68168107	RP4-756H11.3	cis	lung	GTEx
rs68168107	RP4-756H11.3	cis	Esophagus Muscularis	GTEx
rs68168107	RP4-756H11.3	cis	Thyroid	GTEx

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:66232600-66279800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr7:66234800-66275800	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr7:66235200-66261400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr7:66235400-66255400	Weak transcription	Fetal Heart	heart
5	chr7:66236000-66259000	Strong transcription	NHDF-Ad	bronchial
6	chr7:66236800-66265200	Strong transcription	Primary B cells from peripheral blood	blood
7	chr7:66236800-66276800	Strong transcription	Dnd41	blood
8	chr7:66236800-66277000	Strong transcription	Monocytes-CD14+_RO01746	blood
9	chr7:66236800-66278400	Strong transcription	Primary T helper cells fromperipheralblood	blood
10	chr7:66237200-66262400	Weak transcription	Fetal Brain Male	brain
11	chr7:66237200-66277600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr7:66238200-66276600	Strong transcription	Primary monocytes fromperipheralblood	blood
13	chr7:66240400-66260000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr7:66242200-66255400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
15	chr7:66242200-66260000	Weak transcription	Psoas Muscle	Psoas
16	chr7:66242400-66262600	Weak transcription	Colonic Mucosa	Colon
17	chr7:66243600-66263200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr7:66245600-66279200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr7:66245600-66279400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr7:66245800-66260400	Weak transcription	HUVEC	blood vessel
21	chr7:66246200-66256000	Weak transcription	Hela-S3	cervix
22	chr7:66246200-66277800	Strong transcription	Primary neutrophils fromperipheralblood	blood
23	chr7:66246200-66279800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr7:66246400-66256400	Strong transcription	Muscle Satellite Cultured Cells	--
25	chr7:66246800-66261400	Weak transcription	Esophagus	oesophagus
26	chr7:66247000-66260800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
27	chr7:66247600-66261000	Weak transcription	Brain Substantia Nigra	brain
28	chr7:66248400-66277800	Strong transcription	Osteobl	bone
29	chr7:66248600-66256200	Strong transcription	HUES6 Cell Line	embryonic stem cell
30	chr7:66248600-66276800	Strong transcription	HUES64 Cell Line	embryonic stem cell
31	chr7:66248800-66277600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
32	chr7:66249000-66256600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr7:66249200-66258200	Strong transcription	Placenta	Placenta
34	chr7:66249400-66278600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr7:66249800-66256600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
36	chr7:66250000-66256000	Strong transcription	Primary T helper cells PMA-I stimulated	--
37	chr7:66250000-66256200	Strong transcription	Fetal Brain Female	brain
38	chr7:66250000-66258000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr7:66250000-66279200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
40	chr7:66250000-66279200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr7:66250200-66255600	Strong transcription	H1 Cell Line	embryonic stem cell
42	chr7:66250200-66255800	Strong transcription	Fetal Muscle Leg	muscle
43	chr7:66250200-66256200	Strong transcription	Fetal Intestine Large	intestine
44	chr7:66250200-66257000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr7:66250200-66277800	Strong transcription	Primary T cells from cord blood	blood
46	chr7:66250200-66278600	Strong transcription	Fetal Muscle Trunk	muscle
47	chr7:66250400-66255600	Strong transcription	Fetal Intestine Small	intestine
48	chr7:66250400-66255800	Strong transcription	Fetal Stomach	stomach
49	chr7:66250400-66258000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
50	chr7:66250800-66255600	Strong transcription	Thymus	Thymus

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