Variant report

Variant	rs876080
Chromosome Location	chr12:51030764-51030765
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:50898567..50902241-chr12:51030384..51032841,4	K562	blood:
2	chr12:51028358..51031914-chr12:51032564..51035551,3	K562	blood:
3	chr12:50918071..50919801-chr12:51029133..51032048,2	MCF-7	breast:
4	chr12:50900701..50902991-chr12:51029876..51032348,2	MCF-7	breast:
5	chr12:50897973..50902241-chr12:51030384..51032841,4	K562	blood:
6	chr12:51018962..51024057-chr12:51028915..51032528,4	K562	blood:
7	chr12:51022477..51026896-chr12:51028497..51032139,4	MCF-7	breast:
8	chr12:50897525..50900115-chr12:51025935..51031272,7	MCF-7	breast:
9	chr12:51019148..51021821-chr12:51028441..51030840,3	MCF-7	breast:
10	chr12:50897552..50900276-chr12:51029112..51034048,8	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000066084	Chromatin interaction

Extended variants
information (count: 110 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:110)

rs_ID	r²[population]
rs1003033	0.88[CEU][hapmap]
rs10431535	0.86[EUR][1000 genomes]
rs10444547	0.86[EUR][1000 genomes]
rs10459233	0.90[CEU][hapmap];0.80[EUR][1000 genomes]
rs10459235	0.81[EUR][1000 genomes]
rs10506294	0.90[CEU][hapmap];0.83[EUR][1000 genomes]
rs10506295	0.90[CEU][hapmap]
rs10747583	0.83[CHB][hapmap]
rs10747587	0.90[CEU][hapmap];0.81[EUR][1000 genomes]
rs10783372	0.89[CEU][hapmap]
rs10783373	0.90[CEU][hapmap]
rs10783375	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10783381	0.84[EUR][1000 genomes]
rs10783382	0.90[CEU][hapmap];0.84[EUR][1000 genomes]
rs10783383	0.81[EUR][1000 genomes]
rs10783387	0.90[CHB][hapmap];0.94[JPT][hapmap]
rs10876047	0.90[CEU][hapmap]
rs10876051	0.90[CEU][hapmap]
rs10876052	0.90[CEU][hapmap]
rs10876053	0.90[CEU][hapmap]
rs10876055	0.85[CHB][hapmap]
rs10876056	0.90[CEU][hapmap]
rs10876065	0.90[CEU][hapmap]
rs10876070	0.90[CEU][hapmap];0.84[EUR][1000 genomes]
rs10876071	0.90[CEU][hapmap];0.84[EUR][1000 genomes]
rs10876072	0.90[CEU][hapmap];0.84[EUR][1000 genomes]
rs10876073	0.86[EUR][1000 genomes]
rs10876074	0.98[ASN][1000 genomes]
rs10876075	0.87[EUR][1000 genomes]
rs10876076	0.90[CEU][hapmap];0.87[EUR][1000 genomes]
rs10876084	0.89[CHB][hapmap];0.90[JPT][hapmap]
rs10876098	0.90[CHB][hapmap];0.81[CHD][hapmap];0.94[JPT][hapmap]
rs11169479	0.90[CEU][hapmap]
rs11169481	0.90[CEU][hapmap]
rs11169484	0.84[CHB][hapmap]
rs11169493	0.90[CEU][hapmap]
rs11169505	0.84[EUR][1000 genomes]
rs11169506	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs11169507	0.90[CEU][hapmap];0.84[EUR][1000 genomes]
rs11169515	0.90[CEU][hapmap];0.84[EUR][1000 genomes]
rs11169523	0.84[CHB][hapmap]
rs11169524	0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs11169528	0.81[EUR][1000 genomes]
rs11169532	0.90[CEU][hapmap]
rs11169567	0.90[CHB][hapmap];0.94[JPT][hapmap]
rs11169571	0.90[CHB][hapmap];0.94[JPT][hapmap]
rs11169578	0.84[CHB][hapmap];0.81[CHD][hapmap];0.94[JPT][hapmap]
rs1129406	0.89[CHB][hapmap];0.94[JPT][hapmap]
rs11613488	0.90[CEU][hapmap]
rs11615933	0.81[EUR][1000 genomes]
rs12230242	0.83[EUR][1000 genomes]
rs12231309	0.90[CEU][hapmap];0.86[EUR][1000 genomes]
rs12231317	0.87[EUR][1000 genomes]
rs12372718	0.90[CHB][hapmap];0.94[JPT][hapmap]
rs12427378	0.84[CHB][hapmap]
rs12580051	0.87[EUR][1000 genomes]
rs12809086	0.90[CEU][hapmap];0.83[EUR][1000 genomes]
rs12818741	0.95[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs1316607	0.85[CHB][hapmap]
rs13378012	0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs17124930	0.89[CEU][hapmap]
rs1967576	0.80[ASN][1000 genomes]
rs2090851	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2090852	0.94[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs2139930	0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs2243571	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2264734	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2280503	0.95[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs2684908	1.00[ASW][hapmap];1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2700478	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34553264	0.93[ASN][1000 genomes]
rs3742062	0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs3935138	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs3935870	0.84[CHB][hapmap]
rs4131769	0.90[CEU][hapmap]
rs4238106	0.90[CEU][hapmap];0.84[EUR][1000 genomes]
rs4238108	0.90[CEU][hapmap];0.83[EUR][1000 genomes]
rs4388959	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4617661	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4768847	0.84[EUR][1000 genomes]
rs4768853	0.90[CEU][hapmap]
rs4768858	0.87[EUR][1000 genomes]
rs4768888	0.90[CEU][hapmap]
rs4768899	0.84[EUR][1000 genomes]
rs4768906	0.80[EUR][1000 genomes]
rs4768907	0.90[CEU][hapmap]
rs4768914	0.84[CEU][hapmap]
rs4986838	0.83[CHB][hapmap]
rs61926275	0.81[EUR][1000 genomes]
rs61926278	0.89[ASN][1000 genomes]
rs6580756	0.84[EUR][1000 genomes]
rs6580761	1.00[ASW][hapmap];1.00[CEU][hapmap];0.90[CHB][hapmap];0.89[GIH][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs67092086	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7133974	0.90[CHB][hapmap];0.81[CHD][hapmap];0.94[JPT][hapmap]
rs7134976	0.84[EUR][1000 genomes]
rs7137845	0.95[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs7138604	0.90[CEU][hapmap]
rs7298661	0.80[ASN][1000 genomes]
rs7305375	0.90[CEU][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7306677	0.90[CHB][hapmap];0.94[JPT][hapmap]
rs7307419	0.90[CEU][hapmap];0.84[EUR][1000 genomes]
rs7316864	1.00[CEU][hapmap];1.00[YRI][hapmap];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7397999	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7487429	0.85[CHB][hapmap]
rs7956591	0.88[CEU][hapmap]
rs876078	0.90[CEU][hapmap];0.87[EUR][1000 genomes]
rs876079	0.87[EUR][1000 genomes]
rs952318	0.90[CEU][hapmap];0.86[EUR][1000 genomes]
rs9788075	0.80[ASN][1000 genomes]
rs9788159	0.87[EUR][1000 genomes]

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs876080	DIP2B	cis	Lymphoblastoid	GTEx
rs876080	DIP2B	cis	multi-tissue	Pritchard
rs876080	ARID2	cis	cerebellum	SCAN
rs876080	KIAA1463	cis	multi-tissue	Pritchard

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:51013400-51055200	Weak transcription	Aorta	Aorta
2	chr12:51014600-51041000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr12:51015600-51075800	Weak transcription	Colonic Mucosa	Colon
4	chr12:51016000-51065000	Weak transcription	Esophagus	oesophagus
5	chr12:51016200-51035400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr12:51016600-51039400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr12:51017800-51042800	Weak transcription	Rectal Smooth Muscle	rectum
8	chr12:51019600-51031000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr12:51019600-51031200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr12:51019600-51046400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr12:51019800-51031400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
12	chr12:51020000-51031400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr12:51021000-51039800	Weak transcription	NHLF	lung
14	chr12:51021600-51031000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr12:51021600-51031400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
16	chr12:51021600-51041000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr12:51021800-51031000	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr12:51021800-51034600	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr12:51021800-51036000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr12:51021800-51041000	Weak transcription	Fetal Kidney	kidney
21	chr12:51021800-51041400	Weak transcription	Right Ventricle	heart
22	chr12:51022000-51033600	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr12:51022000-51036200	Weak transcription	Pancreas	Pancrea
24	chr12:51022000-51037200	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr12:51022000-51065200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr12:51022000-51068400	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr12:51022200-51035000	Weak transcription	Fetal Muscle Trunk	muscle
28	chr12:51022400-51034000	Weak transcription	K562	blood
29	chr12:51022400-51035400	Weak transcription	Lung	lung
30	chr12:51022400-51055200	Weak transcription	Ovary	ovary
31	chr12:51022600-51035400	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr12:51022600-51054000	Weak transcription	Duodenum Mucosa	Duodenum
33	chr12:51022600-51064600	Weak transcription	Stomach Smooth Muscle	stomach
34	chr12:51023000-51034400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr12:51023200-51035400	Weak transcription	Hela-S3	cervix
36	chr12:51023400-51034400	Weak transcription	Placenta	Placenta
37	chr12:51023600-51031000	Weak transcription	Primary T helper cells fromperipheralblood	blood
38	chr12:51023600-51031200	Weak transcription	GM12878-XiMat	blood
39	chr12:51023600-51035200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr12:51023600-51035400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr12:51023800-51035200	Weak transcription	Primary T cells fromperipheralblood	blood
42	chr12:51024000-51034000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr12:51025000-51031000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr12:51025600-51033400	Weak transcription	Skeletal Muscle Female	skeletal muscle
45	chr12:51025800-51030800	Weak transcription	Fetal Brain Female	brain
46	chr12:51025800-51034600	Weak transcription	Primary neutrophils fromperipheralblood	blood
47	chr12:51025800-51035600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr12:51026000-51031400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
49	chr12:51026000-51031400	Weak transcription	Dnd41	blood
50	chr12:51026000-51035000	Weak transcription	Fetal Intestine Large	intestine

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