Variant report

Variant	rs7700018
Chromosome Location	chr4:48346006-48346007
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:48343572..48346544-chr4:48354204..48356298,2	K562	blood:
2	chr4:48270465..48272288-chr4:48345369..48347780,2	MCF-7	breast:
3	chr4:48343973..48346063-chr4:48356828..48359174,2	K562	blood:
4	chr4:48341581..48344339-chr4:48345461..48347576,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000109171	Chromatin interaction
ENSG00000135605	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10003230	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10026398	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10029785	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12645951	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1472967	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1703973	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2029348	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2291475	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2353312	0.82[ASN][1000 genomes]
rs372825	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs382335	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs392187	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs403495	0.85[ASN][1000 genomes]
rs404348	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs404445	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs404656	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs411261	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs421336	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs421833	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs429969	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs432927	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs445892	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs449376	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs450498	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62309425	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6447635	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6816010	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6816352	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6821277	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6829705	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6836010	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6837335	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6844211	0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6848073	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6848395	0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7438704	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7668529	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7678164	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9996532	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][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	nsv1006610	chr4:48209294-48415387	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv537085	chr4:48209294-48415387	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7700018	SLAIN2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:48342400-48346200	Active TSS	Psoas Muscle	Psoas
2	chr4:48342400-48346200	Active TSS	Stomach Smooth Muscle	stomach
3	chr4:48342400-48346600	Active TSS	Right Ventricle	heart
4	chr4:48344200-48346200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
5	chr4:48344200-48346400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr4:48344200-48346600	Active TSS	Right Atrium	heart
7	chr4:48344400-48346200	Flanking Active TSS	Primary hematopoietic stem cells	blood
8	chr4:48344400-48346200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
9	chr4:48344600-48346200	Flanking Active TSS	Duodenum Mucosa	Duodenum
10	chr4:48344600-48347200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr4:48344800-48346400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr4:48344800-48346400	Enhancers	Primary B cells from peripheral blood	blood
13	chr4:48344800-48346600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
14	chr4:48344800-48346600	Flanking Active TSS	Dnd41	blood
15	chr4:48344800-48346800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr4:48344800-48347000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr4:48344800-48347000	Flanking Active TSS	Primary T cells from cord blood	blood
18	chr4:48344800-48349000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr4:48344800-48349200	Weak transcription	Lung	lung
20	chr4:48344800-48352200	Weak transcription	Pancreas	Pancrea
21	chr4:48344800-48354400	Weak transcription	Esophagus	oesophagus
22	chr4:48344800-48362400	Weak transcription	Gastric	stomach
23	chr4:48345000-48346200	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
24	chr4:48345000-48346200	Flanking Active TSS	Osteobl	bone
25	chr4:48345000-48346400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr4:48345000-48346400	Enhancers	Primary monocytes fromperipheralblood	blood
27	chr4:48345000-48346600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr4:48345000-48346600	Enhancers	Primary B cells from cord blood	blood
29	chr4:48345000-48347400	Enhancers	Primary neutrophils fromperipheralblood	blood
30	chr4:48345000-48350000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
31	chr4:48345200-48346200	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr4:48345200-48346200	Flanking Active TSS	Fetal Brain Female	brain
33	chr4:48345200-48346200	Flanking Active TSS	NHEK	skin
34	chr4:48345200-48346400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
35	chr4:48345200-48346800	Enhancers	Brain Substantia Nigra	brain
36	chr4:48345200-48349200	Weak transcription	Left Ventricle	heart
37	chr4:48345400-48346200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr4:48345400-48346200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr4:48345400-48346200	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
40	chr4:48345400-48346200	Enhancers	Placenta	Placenta
41	chr4:48345400-48346200	Enhancers	Fetal Thymus	thymus
42	chr4:48345400-48346200	Enhancers	Ovary	ovary
43	chr4:48345400-48346200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
44	chr4:48345400-48346200	Enhancers	Hela-S3	cervix
45	chr4:48345400-48346200	Flanking Active TSS	HMEC	breast
46	chr4:48345400-48346400	Enhancers	Adipose Nuclei	Adipose
47	chr4:48345400-48346400	Enhancers	Stomach Mucosa	stomach
48	chr4:48345400-48346400	Flanking Active TSS	NHDF-Ad	bronchial
49	chr4:48345400-48346600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr4:48345400-48346600	Enhancers	Fetal Intestine Large	intestine

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