Variant report

Variant	rs41287449
Chromosome Location	chr13:48660380-48660381
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	chr13:48653583..48656519-chr13:48659541..48662277,2	K562	blood:

Variant related genes	Relation type
ENSG00000136146	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs11617143	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11617714	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11618304	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11618554	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11618672	0.95[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs41284209	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs45465203	0.80[EUR][1000 genomes]
rs7320258	0.81[AFR][1000 genomes]
rs7337521	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9316361	0.90[EUR][1000 genomes]
rs9562803	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9567982	0.80[EUR][1000 genomes]
rs9567983	0.80[EUR][1000 genomes]
rs9567985	0.80[EUR][1000 genomes]
rs9567990	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9567992	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9567995	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9568007	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9568011	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
rs41287449	MC5R	trans	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:48640200-48661200	Strong transcription	Primary T cells fromperipheralblood	blood
2	chr13:48645200-48661000	Strong transcription	Primary T helper cells PMA-I stimulated	--
3	chr13:48645600-48660400	Strong transcription	Rectal Mucosa Donor 31	rectum
4	chr13:48645600-48660600	Strong transcription	Osteobl	bone
5	chr13:48645800-48660600	Strong transcription	HSMM	muscle
6	chr13:48645800-48661000	Strong transcription	HepG2	liver
7	chr13:48646200-48661000	Strong transcription	Primary T helper cells fromperipheralblood	blood
8	chr13:48646400-48660400	Strong transcription	Rectal Mucosa Donor 29	rectum
9	chr13:48646600-48660400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr13:48646600-48660600	Strong transcription	Adipose Nuclei	Adipose
11	chr13:48646800-48660400	Strong transcription	Placenta	Placenta
12	chr13:48647000-48660600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr13:48647000-48660800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr13:48647000-48662400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr13:48647200-48660600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr13:48647400-48660600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr13:48647400-48660600	Strong transcription	Duodenum Mucosa	Duodenum
18	chr13:48647400-48660600	Strong transcription	Duodenum Smooth Muscle	Duodenum
19	chr13:48647400-48663600	Weak transcription	Small Intestine	intestine
20	chr13:48647600-48660400	Strong transcription	Primary neutrophils fromperipheralblood	blood
21	chr13:48648600-48660600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
22	chr13:48648600-48660600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr13:48648600-48660600	Strong transcription	Liver	Liver
24	chr13:48648600-48660600	Strong transcription	Fetal Thymus	thymus
25	chr13:48648600-48660800	Strong transcription	HUES48 Cell Line	embryonic stem cell
26	chr13:48648600-48661000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
27	chr13:48648600-48667400	Weak transcription	Pancreatic Islets	Pancreatic Islet
28	chr13:48648800-48660800	Strong transcription	Primary B cells from cord blood	blood
29	chr13:48649400-48660400	Strong transcription	NHEK	skin
30	chr13:48649400-48661000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr13:48649600-48663400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr13:48649800-48660600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
33	chr13:48649800-48661200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr13:48649800-48661600	Strong transcription	Primary monocytes fromperipheralblood	blood
35	chr13:48649800-48662200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr13:48650000-48661000	Strong transcription	HUES6 Cell Line	embryonic stem cell
37	chr13:48650000-48662400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr13:48650200-48660800	Strong transcription	Dnd41	blood
39	chr13:48650200-48662400	Strong transcription	Monocytes-CD14+_RO01746	blood
40	chr13:48650400-48664800	Weak transcription	Fetal Heart	heart
41	chr13:48650800-48661000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
42	chr13:48651400-48660400	Strong transcription	HUES64 Cell Line	embryonic stem cell
43	chr13:48651600-48661000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr13:48652800-48663200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
45	chr13:48652800-48668200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr13:48653000-48660800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
47	chr13:48653000-48660800	Weak transcription	Psoas Muscle	Psoas
48	chr13:48653000-48661000	Strong transcription	Primary B cells from peripheral blood	blood
49	chr13:48653000-48667800	Weak transcription	Stomach Mucosa	stomach
50	chr13:48653000-48668200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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