Variant report

Variant	rs887782
Chromosome Location	chr12:9084678-9084679
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr12:9082312-9085096	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr12:9084476-9084755	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:9083802..9086315-chr12:9099049..9101665,2	MCF-7	breast:
2	chr12:9067058..9069439-chr12:9084458..9085959,2	MCF-7	breast:

Variant related genes	Relation type
PHC1	TF binding region
ENSG00000003056	Chromatin interaction
ENSG00000111752	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10129061	0.85[CEU][hapmap];0.93[EUR][1000 genomes]
rs10400516	0.85[AFR][1000 genomes];0.99[EUR][1000 genomes]
rs10743568	0.93[EUR][1000 genomes]
rs10771204	0.83[LWK][hapmap];0.86[YRI][hapmap];0.80[AFR][1000 genomes]
rs10771238	0.92[EUR][1000 genomes]
rs11614202	0.96[EUR][1000 genomes]
rs1805248	0.85[YRI][hapmap]
rs1805725	0.92[CEU][hapmap];0.97[GIH][hapmap];1.00[TSI][hapmap];0.95[EUR][1000 genomes]
rs1805727	0.92[CEU][hapmap];0.97[GIH][hapmap];0.96[TSI][hapmap];0.95[EUR][1000 genomes]
rs1805735	0.92[CEU][hapmap];0.83[CHB][hapmap];0.99[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1805736	0.91[CHB][hapmap]
rs1805737	0.91[ASN][1000 genomes]
rs1805754	0.82[GIH][hapmap]
rs1805765	0.87[CHB][hapmap]
rs1805778	0.80[YRI][hapmap]
rs4639983	0.85[CEU][hapmap];0.93[EUR][1000 genomes]
rs4882968	0.80[AFR][1000 genomes]
rs4882969	0.80[AFR][1000 genomes]
rs4883199	0.80[YRI][hapmap]
rs4883201	0.88[GIH][hapmap]
rs4883203	0.93[EUR][1000 genomes]
rs7961355	0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832327	chr12:9081779-9246220	Active TSS Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	esv3387088	chr12:9083419-9085279	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	nsv52793	chr12:9083522-9085156	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs887782	CD163	cis	parietal	SCAN
rs887782	M6PR	cis	lung	GTEx

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:9068200-9086400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr12:9068200-9088800	Weak transcription	Gastric	stomach
3	chr12:9068200-9091400	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr12:9068200-9094200	Weak transcription	Colonic Mucosa	Colon
5	chr12:9068200-9094200	Weak transcription	Lung	lung
6	chr12:9068200-9094200	Weak transcription	Psoas Muscle	Psoas
7	chr12:9068200-9094200	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr12:9068200-9094200	Weak transcription	Small Intestine	intestine
9	chr12:9068200-9100000	Weak transcription	Stomach Mucosa	stomach
10	chr12:9068800-9086400	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr12:9069000-9086400	Weak transcription	HepG2	liver
12	chr12:9069000-9094200	Weak transcription	NHLF	lung
13	chr12:9069400-9094000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr12:9069400-9094200	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr12:9069600-9092000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr12:9070400-9092000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr12:9070400-9092000	Strong transcription	Fetal Muscle Trunk	muscle
18	chr12:9070600-9092000	Strong transcription	Stomach Smooth Muscle	stomach
19	chr12:9070600-9092600	Strong transcription	HUES6 Cell Line	embryonic stem cell
20	chr12:9070600-9092600	Strong transcription	iPS-15b Cell Line	embryonic stem cell
21	chr12:9071000-9087800	Strong transcription	Fetal Brain Female	brain
22	chr12:9071000-9092000	Strong transcription	Fetal Muscle Leg	muscle
23	chr12:9071200-9088000	Strong transcription	Primary T cells from cord blood	blood
24	chr12:9071400-9099400	Strong transcription	HUES48 Cell Line	embryonic stem cell
25	chr12:9071600-9092000	Strong transcription	H9 Cell Line	embryonic stem cell
26	chr12:9071600-9092000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
27	chr12:9071600-9100000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr12:9072400-9092000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
29	chr12:9072400-9094200	Weak transcription	NHEK	skin
30	chr12:9072800-9091000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr12:9072800-9094200	Weak transcription	HSMM	muscle
32	chr12:9073800-9099800	Strong transcription	HUES64 Cell Line	embryonic stem cell
33	chr12:9074200-9093800	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr12:9074400-9094000	Weak transcription	HUVEC	blood vessel
35	chr12:9074600-9094000	Weak transcription	Skeletal Muscle Male	skeletal muscle
36	chr12:9075400-9086400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr12:9075400-9086400	Weak transcription	Pancreas	Pancrea
38	chr12:9075400-9092000	Strong transcription	H1 Cell Line	embryonic stem cell
39	chr12:9075600-9086000	Weak transcription	NH-A	brain
40	chr12:9075600-9086400	Weak transcription	Rectal Smooth Muscle	rectum
41	chr12:9075600-9087800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr12:9075800-9086000	Weak transcription	Liver	Liver
43	chr12:9075800-9086200	Weak transcription	Fetal Intestine Large	intestine
44	chr12:9075800-9086400	Weak transcription	Brain Cingulate Gyrus	brain
45	chr12:9075800-9086400	Weak transcription	Placenta Amnion	Placenta Amnion
46	chr12:9075800-9089400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr12:9075800-9094000	Weak transcription	HMEC	breast
48	chr12:9076000-9085800	Weak transcription	HSMMtube	muscle
49	chr12:9076000-9086400	Weak transcription	A549	lung
50	chr12:9076000-9091400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood

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