Variant report

Variant	rs9567982
Chromosome Location	chr13:48605441-48605442
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:48601851..48605569-chr13:48610219..48612680,3	K562	blood:
2	chr13:48605353..48607010-chr13:48845473..48847893,2	K562	blood:
3	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: 47 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10397	0.86[CEU][hapmap];1.00[CHB][hapmap]
rs11617143	0.86[CEU][hapmap];1.00[CHB][hapmap];0.80[EUR][1000 genomes]
rs11617714	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11618304	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11618554	0.80[EUR][1000 genomes]
rs11618672	0.80[EUR][1000 genomes]
rs17071169	1.00[ASN][1000 genomes]
rs2025703	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2094196	1.00[CHB][hapmap]
rs41284209	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41287449	0.80[EUR][1000 genomes]
rs45465203	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56097393	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7326861	0.86[CEU][hapmap];1.00[CHB][hapmap];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7331746	1.00[CHB][hapmap]
rs7335662	1.00[CHB][hapmap];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7337521	0.93[CEU][hapmap];1.00[CHB][hapmap];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7339238	1.00[CHB][hapmap]
rs7981492	0.86[CEU][hapmap];1.00[CHB][hapmap];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7981902	1.00[CHB][hapmap]
rs9562785	1.00[CHB][hapmap];0.85[EUR][1000 genomes]
rs9562786	0.85[EUR][1000 genomes]
rs9562790	0.85[EUR][1000 genomes]
rs9562791	0.86[CEU][hapmap];1.00[CHB][hapmap];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9562794	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9562795	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9562797	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9562798	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9562803	0.80[EUR][1000 genomes]
rs9567957	0.85[EUR][1000 genomes]
rs9567966	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9567967	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9567970	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9567971	1.00[CHB][hapmap];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9567975	1.00[CHB][hapmap];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9567977	0.86[CEU][hapmap];1.00[CHB][hapmap];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9567978	0.86[CEU][hapmap];1.00[CHB][hapmap];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9567981	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9567983	1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9567985	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9567990	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs9567992	0.93[CEU][hapmap];1.00[CHB][hapmap];0.80[EUR][1000 genomes]
rs9568007	0.80[EUR][1000 genomes]
rs9568011	0.93[CEU][hapmap]
rs9634678	0.81[EUR][1000 genomes];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
rs9567982	MC5R	trans	lymphoblastoid	RTeQTL

Chromatin state (count:49 , 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	chr13:48576600-48610200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr13:48584000-48610800	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr13:48584200-48611200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr13:48588600-48605800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr13:48599600-48610200	Weak transcription	HepG2	liver
8	chr13:48601200-48606200	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr13:48602000-48611200	Weak transcription	Brain Anterior Caudate	brain
10	chr13:48602400-48611000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr13:48602600-48610800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr13:48602800-48611400	Weak transcription	Aorta	Aorta
13	chr13:48603000-48610400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr13:48603000-48611000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr13:48603200-48610800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr13:48603400-48606000	Weak transcription	Fetal Thymus	thymus
17	chr13:48603400-48610200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr13:48603400-48610800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
19	chr13:48603600-48606200	Strong transcription	Primary T helper cells fromperipheralblood	blood
20	chr13:48603800-48610800	Weak transcription	Rectal Smooth Muscle	rectum
21	chr13:48603800-48611400	Weak transcription	Ovary	ovary
22	chr13:48604000-48608200	ZNF genes & repeats	Primary hematopoietic stem cells	blood
23	chr13:48604400-48605800	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
24	chr13:48604600-48609000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr13:48604800-48605600	Strong transcription	Primary T helper cells PMA-I stimulated	--
26	chr13:48604800-48605600	Strong transcription	Thymus	Thymus
27	chr13:48604800-48606200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr13:48604800-48606600	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr13:48604800-48607000	ZNF genes & repeats	Fetal Intestine Small	intestine
30	chr13:48604800-48607400	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
31	chr13:48604800-48608200	ZNF genes & repeats	Fetal Lung	lung
32	chr13:48604800-48609200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr13:48605000-48605600	ZNF genes & repeats	Primary T cells from cord blood	blood
34	chr13:48605000-48606400	ZNF genes & repeats	Primary B cells from peripheral blood	blood
35	chr13:48605000-48607000	ZNF genes & repeats	Primary B cells from cord blood	blood
36	chr13:48605000-48607200	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
37	chr13:48605000-48607200	ZNF genes & repeats	Fetal Muscle Leg	muscle
38	chr13:48605000-48608400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
39	chr13:48605000-48611000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
40	chr13:48605200-48605600	ZNF genes & repeats	Fetal Intestine Large	intestine
41	chr13:48605200-48606600	ZNF genes & repeats	Duodenum Mucosa	Duodenum
42	chr13:48605200-48607000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
43	chr13:48605200-48609200	ZNF genes & repeats	Dnd41	blood
44	chr13:48605400-48605600	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
45	chr13:48605400-48607000	ZNF genes & repeats	Fetal Stomach	stomach
46	chr13:48605400-48607200	Strong transcription	Fetal Kidney	kidney
47	chr13:48605400-48610800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
48	chr13:48605400-48610800	Weak transcription	Liver	Liver
49	chr13:48605400-48610800	Weak transcription	NHLF	lung

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