Variant report

Variant	rs9567981
Chromosome Location	chr13:48604889-48604890
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:48601851..48605569-chr13:48610219..48612680,3	K562	blood:
2	chr13:48600867..48607443-chr13:48607705..48615093,10	MCF-7	breast:

Variant related genes	Relation type
ENSG00000136143	Chromatin interaction
ENSG00000136159	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs11617714	1.00[ASN][1000 genomes]
rs11618304	1.00[ASN][1000 genomes]
rs17071169	1.00[ASN][1000 genomes]
rs2025703	0.82[ASN][1000 genomes]
rs41284209	1.00[ASN][1000 genomes]
rs45465203	0.94[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56097393	0.90[ASN][1000 genomes]
rs7326861	0.90[ASN][1000 genomes]
rs7335662	0.90[ASN][1000 genomes]
rs7337521	1.00[ASN][1000 genomes]
rs7981492	0.90[ASN][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]
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]
rs9567982	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9567983	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9567985	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9567990	1.00[ASN][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
rs9567981	MC5R	trans	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:48576000-48610800	Weak transcription	Primary T cells fromperipheralblood	blood
2	chr13:48576000-48611400	Weak transcription	Left Ventricle	heart
3	chr13:48576400-48605000	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr13:48576600-48610200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr13:48584000-48610800	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr13:48584200-48611200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr13:48588600-48605800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr13:48588800-48605200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr13:48589200-48605200	Weak transcription	Fetal Intestine Large	intestine
10	chr13:48599600-48610200	Weak transcription	HepG2	liver
11	chr13:48601200-48606200	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr13:48602000-48611200	Weak transcription	Brain Anterior Caudate	brain
13	chr13:48602400-48605400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr13:48602400-48611000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
15	chr13:48602600-48610800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr13:48602800-48611400	Weak transcription	Aorta	Aorta
17	chr13:48603000-48610400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr13:48603000-48611000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
19	chr13:48603200-48610800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr13:48603400-48606000	Weak transcription	Fetal Thymus	thymus
21	chr13:48603400-48610200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr13:48603400-48610800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
23	chr13:48603600-48606200	Strong transcription	Primary T helper cells fromperipheralblood	blood
24	chr13:48603800-48610800	Weak transcription	Rectal Smooth Muscle	rectum
25	chr13:48603800-48611400	Weak transcription	Ovary	ovary
26	chr13:48604000-48605000	Strong transcription	Primary B cells from cord blood	blood
27	chr13:48604000-48605000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr13:48604000-48608200	ZNF genes & repeats	Primary hematopoietic stem cells	blood
29	chr13:48604400-48605000	Strong transcription	Primary T cells from cord blood	blood
30	chr13:48604400-48605800	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
31	chr13:48604600-48605000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr13:48604600-48605200	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr13:48604600-48605400	Strong transcription	Liver	Liver
34	chr13:48604600-48609000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr13:48604800-48605000	Strong transcription	Primary B cells from peripheral blood	blood
36	chr13:48604800-48605000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr13:48604800-48605200	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr13:48604800-48605200	ZNF genes & repeats	Primary Natural Killer cells fromperipheralblood	blood
39	chr13:48604800-48605200	Strong transcription	Duodenum Mucosa	Duodenum
40	chr13:48604800-48605200	Strong transcription	Dnd41	blood
41	chr13:48604800-48605400	ZNF genes & repeats	Fetal Muscle Trunk	muscle
42	chr13:48604800-48605400	Strong transcription	Fetal Stomach	stomach
43	chr13:48604800-48605600	Strong transcription	Primary T helper cells PMA-I stimulated	--
44	chr13:48604800-48605600	Strong transcription	Thymus	Thymus
45	chr13:48604800-48606200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr13:48604800-48606600	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr13:48604800-48607000	ZNF genes & repeats	Fetal Intestine Small	intestine
48	chr13:48604800-48607400	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
49	chr13:48604800-48608200	ZNF genes & repeats	Fetal Lung	lung
50	chr13:48604800-48609200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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