Variant report

Variant	rs9480385
Chromosome Location	chr6:150730783-150730784
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11760118	1.00[CHB][hapmap];1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs12211979	1.00[ASW][hapmap]
rs13197942	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[ASN][1000 genomes]
rs34257671	1.00[ASN][1000 genomes]
rs73000920	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73000923	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9478733	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	nsv1022455	chr6:150727247-150755933	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
2	nsv1020067	chr6:150730783-150870708	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs9480385	PPP1R14C	cis	parietal	SCAN
rs9480385	MTHFD1L	cis	parietal	SCAN
rs9480385	LRP11	cis	cerebellum	SCAN

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:150724800-150731000	Weak transcription	Lung	lung
2	chr6:150725400-150731000	Weak transcription	Right Ventricle	heart
3	chr6:150725400-150733000	Weak transcription	Stomach Mucosa	stomach
4	chr6:150725600-150731200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr6:150727600-150734000	Enhancers	Osteobl	bone
6	chr6:150728400-150732400	Enhancers	Fetal Lung	lung
7	chr6:150728800-150732000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr6:150729600-150731200	Enhancers	Esophagus	oesophagus
9	chr6:150729800-150731000	Enhancers	NHEK	skin
10	chr6:150729800-150732200	Enhancers	Liver	Liver
11	chr6:150730000-150730800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr6:150730000-150731200	Enhancers	Gastric	stomach
13	chr6:150730000-150731400	Enhancers	Duodenum Mucosa	Duodenum
14	chr6:150730000-150731400	Enhancers	Left Ventricle	heart
15	chr6:150730000-150731400	Enhancers	Pancreas	Pancrea
16	chr6:150730000-150731400	Enhancers	HMEC	breast
17	chr6:150730000-150732200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr6:150730200-150731400	Enhancers	Fetal Muscle Trunk	muscle
19	chr6:150730200-150731400	Enhancers	Fetal Muscle Leg	muscle
20	chr6:150730200-150731800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
21	chr6:150730200-150732800	Enhancers	Fetal Heart	heart
22	chr6:150730200-150732800	Enhancers	Fetal Kidney	kidney
23	chr6:150730400-150731000	Enhancers	Hela-S3	cervix
24	chr6:150730400-150731200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr6:150730400-150731200	Enhancers	Rectal Mucosa Donor 31	rectum
26	chr6:150730400-150731200	Enhancers	Stomach Smooth Muscle	stomach
27	chr6:150730400-150731200	Enhancers	Spleen	Spleen
28	chr6:150730400-150731400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr6:150730400-150731400	Enhancers	Primary B cells from cord blood	blood
30	chr6:150730400-150731400	Enhancers	Right Atrium	heart
31	chr6:150730400-150732000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr6:150730400-150732000	Enhancers	Adipose Nuclei	Adipose
33	chr6:150730400-150732200	Enhancers	Skeletal Muscle Female	skeletal muscle
34	chr6:150730400-150732400	Enhancers	Fetal Stomach	stomach
35	chr6:150730400-150733000	Enhancers	HSMMtube	muscle
36	chr6:150730600-150731000	Enhancers	Brain Angular Gyrus	brain
37	chr6:150730600-150731200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr6:150730600-150731200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr6:150730600-150731400	Enhancers	Primary hematopoietic stem cells	blood
40	chr6:150730600-150731400	Enhancers	Skeletal Muscle Male	skeletal muscle
41	chr6:150730600-150731400	Enhancers	Small Intestine	intestine
42	chr6:150730600-150731800	Enhancers	Duodenum Smooth Muscle	Duodenum
43	chr6:150730600-150732400	Enhancers	Breast Myoepithelial Primary Cells	Breast
44	chr6:150730600-150732600	Enhancers	Colon Smooth Muscle	Colon
45	chr6:150730600-150733600	Enhancers	NH-A	brain

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