Variant report

Variant	rs11618304
Chromosome Location	chr13:48621635-48621636
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:48619636..48622232-chr13:48625970..48628449,2	K562	blood:
2	chr13:48621450..48623489-chr13:48625313..48627091,2	K562	blood:
3	chr13:48611429..48613377-chr13:48621435..48622940,2	K562	blood:

Variant related genes	Relation type
ENSG00000136143	Chromatin interaction
ENSG00000136159	Chromatin interaction

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

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

rs_ID	r²[population]
rs11617143	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11617714	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11618554	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11618672	0.95[AFR][1000 genomes];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17071169	1.00[ASN][1000 genomes]
rs2025703	0.82[ASN][1000 genomes]
rs41284209	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41287449	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs45465203	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56097393	0.90[ASN][1000 genomes]
rs7320258	0.86[AFR][1000 genomes]
rs7326861	0.90[ASN][1000 genomes]
rs7335662	0.90[ASN][1000 genomes]
rs7337521	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7981492	0.90[ASN][1000 genomes]
rs9316361	0.88[EUR][1000 genomes]
rs9562791	0.90[ASN][1000 genomes]
rs9562794	0.90[ASN][1000 genomes]
rs9562795	0.90[ASN][1000 genomes]
rs9562797	1.00[ASN][1000 genomes]
rs9562798	1.00[ASN][1000 genomes]
rs9562803	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9567966	0.90[ASN][1000 genomes]
rs9567967	0.90[ASN][1000 genomes]
rs9567970	0.90[ASN][1000 genomes]
rs9567971	0.90[ASN][1000 genomes]
rs9567975	1.00[ASN][1000 genomes]
rs9567977	1.00[ASN][1000 genomes]
rs9567978	1.00[ASN][1000 genomes]
rs9567981	1.00[ASN][1000 genomes]
rs9567982	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9567983	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9567985	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9567990	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9567992	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9567995	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9568007	0.98[EUR][1000 genomes]
rs9568011	0.90[EUR][1000 genomes]
rs9634678	0.90[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	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
rs11618304	MC5R	trans	lymphoblastoid	RTeQTL

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:48612400-48625000	Weak transcription	Spleen	Spleen
2	chr13:48612600-48623000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr13:48612600-48624200	Weak transcription	Gastric	stomach
4	chr13:48612600-48624800	Weak transcription	Ovary	ovary
5	chr13:48612600-48631600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr13:48612600-48640400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr13:48612600-48645000	Weak transcription	Stomach Mucosa	stomach
8	chr13:48612800-48622000	Weak transcription	Brain Germinal Matrix	brain
9	chr13:48612800-48622000	Weak transcription	Placenta	Placenta
10	chr13:48612800-48622200	Weak transcription	Fetal Brain Female	brain
11	chr13:48612800-48622400	Weak transcription	Brain Substantia Nigra	brain
12	chr13:48612800-48624600	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr13:48612800-48624800	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr13:48612800-48625000	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr13:48612800-48628000	Weak transcription	Fetal Brain Male	brain
16	chr13:48612800-48640200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr13:48612800-48640400	Weak transcription	Psoas Muscle	Psoas
18	chr13:48613000-48621800	Weak transcription	Rectal Smooth Muscle	rectum
19	chr13:48613000-48622200	Weak transcription	Primary neutrophils fromperipheralblood	blood
20	chr13:48613000-48640200	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr13:48613000-48640400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr13:48613200-48624800	Weak transcription	Primary B cells from peripheral blood	blood
23	chr13:48613200-48624800	Weak transcription	Brain Cingulate Gyrus	brain
24	chr13:48613200-48626600	Weak transcription	Right Ventricle	heart
25	chr13:48613200-48629000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr13:48613200-48631800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
27	chr13:48613200-48640400	Weak transcription	Fetal Heart	heart
28	chr13:48613200-48641600	Weak transcription	Pancreatic Islets	Pancreatic Islet
29	chr13:48613200-48642200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr13:48613400-48624800	Weak transcription	Brain Anterior Caudate	brain
31	chr13:48613400-48625800	Weak transcription	K562	blood
32	chr13:48613400-48641600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
33	chr13:48613400-48647000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
34	chr13:48613600-48622200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr13:48613600-48625200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr13:48613600-48636400	Weak transcription	Hela-S3	cervix
37	chr13:48613600-48645000	Weak transcription	Small Intestine	intestine
38	chr13:48614400-48627600	Strong transcription	HUES6 Cell Line	embryonic stem cell
39	chr13:48614400-48628600	Strong transcription	HUES64 Cell Line	embryonic stem cell
40	chr13:48614400-48636400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
41	chr13:48614800-48628200	Strong transcription	Dnd41	blood
42	chr13:48615000-48623200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
43	chr13:48615000-48623800	Strong transcription	HUES48 Cell Line	embryonic stem cell
44	chr13:48615800-48622800	Weak transcription	Duodenum Smooth Muscle	Duodenum
45	chr13:48615800-48623000	Weak transcription	Thymus	Thymus
46	chr13:48616200-48622000	Weak transcription	Primary T helper cells PMA-I stimulated	--
47	chr13:48616200-48622200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr13:48616200-48625000	Weak transcription	Brain Hippocampus Middle	brain
49	chr13:48616200-48625400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr13:48616400-48621800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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