Variant report

Variant	rs373667
Chromosome Location	chr18:29628508-29628509
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:29628181..29630533-chr18:29631429..29634258,2	K562	blood:
2	chr18:29627167..29630199-chr18:29636051..29638994,4	MCF-7	breast:

Extended variants
information (count: 25 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10438934	0.90[ASN][1000 genomes]
rs11661718	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs170861	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs189209	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2006768	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2432699	0.83[EUR][1000 genomes]
rs2433379	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2433380	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28621808	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2911636	0.95[ASN][1000 genomes]
rs2912538	0.94[ASN][1000 genomes]
rs336272	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs336280	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs35672529	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs454768	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4799627	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs606590	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs618790	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs641777	0.80[ASN][1000 genomes]
rs685446	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs686271	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72934872	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73413971	0.89[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	esv1803283	chr18:29591102-29640430	Flanking Bivalent TSS/Enh Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
2	nsv1061305	chr18:29609935-29664528	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs373667	RP11-53I6.2	cis	Heart Left Ventricle	GTEx

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:29599600-29629600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr18:29600800-29632400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr18:29602600-29628600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr18:29602600-29664200	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr18:29604600-29656000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr18:29606800-29637000	Weak transcription	Brain Anterior Caudate	brain
7	chr18:29609800-29628600	Weak transcription	Small Intestine	intestine
8	chr18:29611600-29628800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr18:29611800-29629000	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr18:29615200-29648400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr18:29616000-29640200	Weak transcription	Esophagus	oesophagus
12	chr18:29616200-29628800	Weak transcription	Gastric	stomach
13	chr18:29617200-29629600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr18:29618000-29628800	Weak transcription	Left Ventricle	heart
15	chr18:29618000-29629000	Weak transcription	Lung	lung
16	chr18:29618400-29639800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr18:29618400-29646800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr18:29618600-29628600	Weak transcription	Spleen	Spleen
19	chr18:29618600-29642800	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr18:29619400-29645400	Weak transcription	Fetal Stomach	stomach
21	chr18:29621200-29628800	Weak transcription	Thymus	Thymus
22	chr18:29621400-29628600	Weak transcription	Brain Cingulate Gyrus	brain
23	chr18:29621400-29628600	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr18:29621400-29628600	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr18:29621400-29628800	Weak transcription	Brain Hippocampus Middle	brain
26	chr18:29621400-29628800	Weak transcription	Brain Substantia Nigra	brain
27	chr18:29622800-29639800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr18:29625200-29629000	Weak transcription	Right Ventricle	heart
29	chr18:29625400-29628600	Weak transcription	Fetal Muscle Leg	muscle
30	chr18:29625400-29628600	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr18:29626000-29657200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
32	chr18:29626200-29628600	Weak transcription	Fetal Thymus	thymus
33	chr18:29626200-29628800	Weak transcription	Liver	Liver
34	chr18:29626200-29639800	Weak transcription	HUES48 Cell Line	embryonic stem cell
35	chr18:29626800-29630800	Enhancers	Primary B cells from cord blood	blood
36	chr18:29627000-29637600	Weak transcription	HUES64 Cell Line	embryonic stem cell
37	chr18:29627200-29628600	Weak transcription	H1 Cell Line	embryonic stem cell
38	chr18:29627200-29632000	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
39	chr18:29627400-29628600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr18:29627400-29630800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
41	chr18:29627400-29637600	Weak transcription	HUES6 Cell Line	embryonic stem cell
42	chr18:29627600-29628600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr18:29627600-29631400	Enhancers	Primary T helper cells fromperipheralblood	blood
44	chr18:29627800-29631200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr18:29627800-29631400	Enhancers	Primary monocytes fromperipheralblood	blood
46	chr18:29627800-29631400	Genic enhancers	Primary T cells fromperipheralblood	blood
47	chr18:29627800-29631400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
48	chr18:29628200-29628600	Enhancers	Primary hematopoietic stem cells short term culture	blood
49	chr18:29628200-29629000	Enhancers	Fetal Muscle Trunk	muscle
50	chr18:29628200-29630200	Enhancers	Primary B cells from peripheral blood	blood

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