Variant report

Variant	rs4718428
Chromosome Location	chr7:66421446-66421447
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:66419753..66422716-chr7:66459717..66461660,2	K562	blood:
2	chr7:66415946..66417967-chr7:66421383..66424025,2	K562	blood:
3	chr7:66415946..66418583-chr7:66421177..66424025,3	K562	blood:

Variant related genes	Relation type
ENSG00000126524	Chromatin interaction
ENSG00000198874	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 10 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10252765	0.93[ASW][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];0.94[MKK][hapmap];1.00[YRI][hapmap]
rs10807707	0.92[EUR][1000 genomes]
rs11028	0.93[ASW][hapmap];0.82[LWK][hapmap]
rs12534637	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1830070	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1962050	0.81[MKK][hapmap]
rs3800812	0.90[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs4236209	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4718421	0.93[EUR][1000 genomes]
rs6460317	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6971897	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs868961	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758118	chr7:66401430-66859253	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	esv2759535	chr7:66401430-66859253	Weak transcription Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	esv33855	chr7:66419946-66421540	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	esv2348355	chr7:66421444-66421448	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

Variant related diseases (count:1)

Disease	PMID	Source
Corneal structure	23291589	GWAS catalog

mRNA abundance (count:9)

SNP	Gene	Cis/trans	Tissue	Source
rs4718428	RP4-756H11.3	cis	Adipose Subcutaneous	GTEx
rs4718428	RP4-756H11.3	cis	lung	GTEx
rs4718428	RP4-756H11.3	cis	Thyroid	GTEx
rs4718428	RP4-756H11.3	cis	Esophagus Muscularis	GTEx
rs4718428	RP4-756H11.3	cis	Esophagus Mucosa	GTEx
rs4718428	RP4-756H11.3	cis	Artery Tibial	GTEx
rs4718428	RP4-756H11.3	cis	Nerve Tibial	GTEx
rs4718428	RP4-756H11.3	cis	Skin Sun Exposed Lower leg	GTEx
rs4718428	RP4-756H11.3	cis	Artery Aorta	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:66387600-66428000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr7:66393800-66422200	Weak transcription	Fetal Heart	heart
3	chr7:66400600-66426400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
4	chr7:66402400-66424200	Strong transcription	Dnd41	blood
5	chr7:66403000-66424800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
6	chr7:66403400-66424400	Strong transcription	Primary T helper cells fromperipheralblood	blood
7	chr7:66403400-66426000	Strong transcription	Primary monocytes fromperipheralblood	blood
8	chr7:66403400-66426400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr7:66403600-66424600	Strong transcription	Primary T helper cells PMA-I stimulated	--
10	chr7:66403600-66425600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr7:66403600-66426400	Strong transcription	Thymus	Thymus
12	chr7:66403600-66426600	Strong transcription	Fetal Stomach	stomach
13	chr7:66403800-66425200	Strong transcription	Monocytes-CD14+_RO01746	blood
14	chr7:66403800-66425800	Strong transcription	Primary T cells fromperipheralblood	blood
15	chr7:66405000-66424600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr7:66405200-66422800	Strong transcription	Fetal Muscle Leg	muscle
17	chr7:66406000-66426400	Strong transcription	Fetal Thymus	thymus
18	chr7:66406200-66423800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr7:66406400-66424400	Strong transcription	HUES64 Cell Line	embryonic stem cell
20	chr7:66406400-66425000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr7:66406600-66425800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr7:66406600-66425800	Strong transcription	Liver	Liver
23	chr7:66406600-66425800	Strong transcription	Fetal Brain Female	brain
24	chr7:66406600-66426400	Strong transcription	Fetal Muscle Trunk	muscle
25	chr7:66406800-66422400	Strong transcription	Left Ventricle	heart
26	chr7:66406800-66422600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr7:66406800-66425200	Strong transcription	Stomach Smooth Muscle	stomach
28	chr7:66406800-66425800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr7:66406800-66425800	Strong transcription	Adipose Nuclei	Adipose
30	chr7:66406800-66426000	Strong transcription	Primary neutrophils fromperipheralblood	blood
31	chr7:66406800-66426000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr7:66407000-66424600	Strong transcription	Duodenum Smooth Muscle	Duodenum
33	chr7:66407400-66424200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
34	chr7:66408000-66423800	Strong transcription	H1 Cell Line	embryonic stem cell
35	chr7:66408000-66425000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr7:66409400-66425800	Strong transcription	Skeletal Muscle Female	skeletal muscle
37	chr7:66409800-66425800	Strong transcription	Brain Germinal Matrix	brain
38	chr7:66411400-66425400	Strong transcription	Cortex derived primary cultured neurospheres	brain
39	chr7:66412200-66424600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr7:66412400-66423200	Strong transcription	Rectal Mucosa Donor 29	rectum
41	chr7:66412800-66422200	Strong transcription	Ovary	ovary
42	chr7:66412800-66424200	Strong transcription	HUES48 Cell Line	embryonic stem cell
43	chr7:66414000-66425000	Weak transcription	Pancreatic Islets	Pancreatic Islet
44	chr7:66414800-66425200	Strong transcription	Primary T cells from cord blood	blood
45	chr7:66415000-66424200	Strong transcription	Primary B cells from cord blood	blood
46	chr7:66415400-66423200	Strong transcription	Colon Smooth Muscle	Colon
47	chr7:66415400-66424200	Strong transcription	H9 Cell Line	embryonic stem cell
48	chr7:66415400-66424200	Strong transcription	Fetal Lung	lung
49	chr7:66415400-66424400	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
50	chr7:66415400-66424800	Strong transcription	GM12878-XiMat	blood

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