Variant report

Variant	rs4500030
Chromosome Location	chr7:128109915-128109916
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs1048531	0.86[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs11766743	0.86[CEU][hapmap]
rs11769168	0.86[CEU][hapmap]
rs12535956	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12540762	0.86[CEU][hapmap]
rs12540808	0.86[CEU][hapmap]
rs17627068	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1864232	0.87[CEU][hapmap]
rs2288550	0.87[CEU][hapmap]
rs2288554	0.89[ASN][1000 genomes]
rs4728114	0.89[ASN][1000 genomes]
rs59027033	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs59665775	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61310483	0.87[AMR][1000 genomes]
rs62481131	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62481140	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62481159	0.85[AMR][1000 genomes]
rs62483279	0.82[AMR][1000 genomes]
rs73463119	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831124	chr7:127970345-128147910	Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
2	nsv966883	chr7:128107081-128142581	Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh 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
rs4500030	RP11-274B21.2	cis	Skin Sun Exposed Lower leg	GTEx
rs4500030	RP11-274B21.1	cis	lung	GTEx
rs4500030	RP11-274B21.4	cis	Nerve Tibial	GTEx

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:128096400-128116400	Weak transcription	Lung	lung
2	chr7:128097600-128116200	Weak transcription	Fetal Kidney	kidney
3	chr7:128097600-128116200	Weak transcription	Left Ventricle	heart
4	chr7:128097800-128116400	Weak transcription	Fetal Stomach	stomach
5	chr7:128097800-128116400	Weak transcription	Gastric	stomach
6	chr7:128097800-128116400	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr7:128098200-128116400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr7:128098200-128116400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr7:128098600-128116200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr7:128099000-128116200	Weak transcription	Fetal Muscle Trunk	muscle
11	chr7:128099000-128116400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr7:128099200-128116400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr7:128099400-128116200	Weak transcription	Primary hematopoietic stem cells	blood
14	chr7:128099400-128116400	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr7:128099800-128116200	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr7:128099800-128116200	Weak transcription	Duodenum Mucosa	Duodenum
17	chr7:128099800-128116400	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr7:128099800-128116400	Weak transcription	Fetal Intestine Small	intestine
19	chr7:128099800-128116400	Weak transcription	Ovary	ovary
20	chr7:128100000-128116200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr7:128100000-128116200	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr7:128100000-128116200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr7:128100000-128116400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr7:128100000-128116400	Weak transcription	Brain Hippocampus Middle	brain
25	chr7:128100000-128116400	Weak transcription	Esophagus	oesophagus
26	chr7:128100000-128116400	Weak transcription	Fetal Brain Male	brain
27	chr7:128100200-128116200	Weak transcription	Brain Germinal Matrix	brain
28	chr7:128100200-128116200	Weak transcription	K562	blood
29	chr7:128100400-128116200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
30	chr7:128100600-128116200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
31	chr7:128102800-128116200	Weak transcription	A549	lung
32	chr7:128103000-128116200	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr7:128103000-128116200	Weak transcription	HUES64 Cell Line	embryonic stem cell
34	chr7:128103000-128116200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
35	chr7:128103000-128116200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr7:128103000-128116200	Weak transcription	Fetal Heart	heart
37	chr7:128103000-128116200	Weak transcription	NHLF	lung
38	chr7:128103600-128116200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr7:128103800-128116400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr7:128104400-128116200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr7:128104600-128116200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr7:128104600-128116200	Weak transcription	Fetal Lung	lung
43	chr7:128104600-128116400	Weak transcription	H1 Cell Line	embryonic stem cell
44	chr7:128104600-128116400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr7:128104800-128116200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr7:128104800-128116200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr7:128108000-128110200	Strong transcription	Fetal Brain Female	brain
48	chr7:128108200-128116400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr7:128108600-128115800	Weak transcription	Dnd41	blood
50	chr7:128108600-128116200	Weak transcription	Brain Anterior Caudate	brain

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