Variant report

Variant	rs11617143
Chromosome Location	chr13:48651837-48651838
allele	A/C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10397	1.00[CHB][hapmap]
rs11617714	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11618304	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11618554	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11618672	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2094196	1.00[CHB][hapmap]
rs41284209	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs41287449	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs45465203	0.80[EUR][1000 genomes]
rs7326861	1.00[CHB][hapmap]
rs7331746	1.00[CHB][hapmap]
rs7335662	1.00[CHB][hapmap]
rs7337521	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7339238	1.00[CHB][hapmap]
rs7981492	1.00[CHB][hapmap]
rs7981902	1.00[CHB][hapmap]
rs9316361	0.90[EUR][1000 genomes]
rs9562785	1.00[CHB][hapmap]
rs9562791	1.00[CHB][hapmap]
rs9562803	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9567971	1.00[CHB][hapmap]
rs9567975	1.00[CHB][hapmap]
rs9567977	1.00[CHB][hapmap]
rs9567978	1.00[CHB][hapmap]
rs9567982	0.86[CEU][hapmap];1.00[CHB][hapmap];0.80[EUR][1000 genomes]
rs9567983	0.80[EUR][1000 genomes]
rs9567985	0.80[EUR][1000 genomes]
rs9567990	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9567992	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9567995	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9568007	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9568011	0.93[CEU][hapmap];0.92[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	nsv430556	chr13:48516799-48679099	ZNF genes & repeats Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv832601	chr13:48569952-48735939	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11617143	MC5R	trans	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:48623200-48652200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
2	chr13:48636600-48655400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr13:48640200-48661200	Strong transcription	Primary T cells fromperipheralblood	blood
4	chr13:48640400-48655600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
5	chr13:48642600-48653800	Strong transcription	Brain Angular Gyrus	brain
6	chr13:48642800-48653800	Strong transcription	A549	lung
7	chr13:48644200-48657600	Strong transcription	Primary T helper naive cells from peripheral blood	blood
8	chr13:48644200-48659800	Strong transcription	Stomach Smooth Muscle	stomach
9	chr13:48645200-48657600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr13:48645200-48661000	Strong transcription	Primary T helper cells PMA-I stimulated	--
11	chr13:48645400-48654200	Strong transcription	Brain Hippocampus Middle	brain
12	chr13:48645400-48657600	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr13:48645400-48657600	Strong transcription	NHLF	lung
14	chr13:48645600-48659800	Strong transcription	Skeletal Muscle Male	skeletal muscle
15	chr13:48645600-48660400	Strong transcription	Rectal Mucosa Donor 31	rectum
16	chr13:48645600-48660600	Strong transcription	Osteobl	bone
17	chr13:48645800-48660600	Strong transcription	HSMM	muscle
18	chr13:48645800-48661000	Strong transcription	HepG2	liver
19	chr13:48646000-48657400	Strong transcription	Muscle Satellite Cultured Cells	--
20	chr13:48646000-48660000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr13:48646000-48660000	Strong transcription	Skeletal Muscle Female	skeletal muscle
22	chr13:48646200-48653000	Strong transcription	Psoas Muscle	Psoas
23	chr13:48646200-48655400	Strong transcription	Fetal Brain Male	brain
24	chr13:48646200-48656200	Strong transcription	HUVEC	blood vessel
25	chr13:48646200-48658200	Strong transcription	NHDF-Ad	bronchial
26	chr13:48646200-48661000	Strong transcription	Primary T helper cells fromperipheralblood	blood
27	chr13:48646400-48652400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr13:48646400-48660400	Strong transcription	Rectal Mucosa Donor 29	rectum
29	chr13:48646600-48652400	Strong transcription	Primary B cells from peripheral blood	blood
30	chr13:48646600-48657600	Strong transcription	Brain Substantia Nigra	brain
31	chr13:48646600-48658200	Strong transcription	Colon Smooth Muscle	Colon
32	chr13:48646600-48660400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr13:48646600-48660600	Strong transcription	Adipose Nuclei	Adipose
34	chr13:48646800-48652400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
35	chr13:48646800-48652400	Weak transcription	Stomach Mucosa	stomach
36	chr13:48646800-48653000	Strong transcription	iPS-15b Cell Line	embryonic stem cell
37	chr13:48646800-48655200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr13:48646800-48658000	Strong transcription	NH-A	brain
39	chr13:48646800-48660000	Strong transcription	Fetal Intestine Large	intestine
40	chr13:48646800-48660400	Strong transcription	Placenta	Placenta
41	chr13:48647000-48660600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr13:48647000-48660800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr13:48647000-48662400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr13:48647200-48652200	Weak transcription	Gastric	stomach
45	chr13:48647200-48654600	Strong transcription	Fetal Kidney	kidney
46	chr13:48647200-48655400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr13:48647200-48660000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr13:48647200-48660600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr13:48647400-48660600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr13:48647400-48660600	Strong transcription	Duodenum Mucosa	Duodenum

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