Variant report

Variant	rs2684900
Chromosome Location	chr12:51019556-51019557
allele	A/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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:51018962..51024057-chr12:51028915..51032528,4	K562	blood:
2	chr12:50990321..50993026-chr12:51018006..51020008,2	K562	blood:
3	chr12:51011614..51015432-chr12:51015649..51019939,6	MCF-7	breast:
4	chr12:51015875..51020257-chr12:51020735..51026058,6	MCF-7	breast:
5	chr12:51009757..51011293-chr12:51019509..51021830,2	K562	blood:
6	chr12:51012020..51014693-chr12:51019365..51022263,2	MCF-7	breast:
7	chr12:51007874..51011257-chr12:51018084..51021009,3	K562	blood:
8	chr12:51019148..51021821-chr12:51028441..51030840,3	MCF-7	breast:
9	chr12:51018746..51021962-chr12:51026781..51030802,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000207136	Chromatin interaction

Extended variants
information (count: 65 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:65)

rs_ID	r²[population]
rs10747586	1.00[CEU][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10783366	0.89[CEU][hapmap]
rs10783377	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10783380	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10876041	0.92[CEU][hapmap]
rs10876044	0.92[CEU][hapmap]
rs10876046	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1109726	1.00[ASN][1000 genomes]
rs11609231	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11609506	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11609941	1.00[ASN][1000 genomes]
rs11611288	1.00[CEU][hapmap];1.00[YRI][hapmap];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11832315	1.00[CEU][hapmap];0.89[YRI][hapmap];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12821270	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1521516	1.00[CEU][hapmap];0.94[YRI][hapmap]
rs2250751	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2250752	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2251024	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2251603	1.00[CEU][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2252589	1.00[CEU][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2554862	1.00[ASN][1000 genomes]
rs2684889	1.00[CEU][hapmap];0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2684898	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2684901	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2700479	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2700480	1.00[CEU][hapmap];0.90[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2700482	1.00[CEU][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2700485	1.00[CEU][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2731434	1.00[CEU][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2731439	1.00[CEU][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2731440	1.00[CEU][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2731442	1.00[CEU][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2731443	1.00[CEU][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55939211	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56089074	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56104942	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57602501	1.00[ASN][1000 genomes]
rs57729468	1.00[ASN][1000 genomes]
rs6580769	1.00[ASN][1000 genomes]
rs66597435	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66644594	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66838741	1.00[ASN][1000 genomes]
rs66947035	1.00[ASN][1000 genomes]
rs67356137	1.00[ASN][1000 genomes]
rs67701624	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs67934435	1.00[ASN][1000 genomes]
rs68171620	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7131795	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7135837	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7300979	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7305655	1.00[CEU][hapmap];0.95[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7307788	1.00[ASN][1000 genomes]
rs7307815	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7960015	1.00[ASN][1000 genomes]
rs7968440	1.00[CEU][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7976942	1.00[ASN][1000 genomes]
rs7977064	1.00[ASN][1000 genomes]
rs7977690	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7977742	0.96[CEU][hapmap];1.00[YRI][hapmap]
rs7978559	1.00[ASN][1000 genomes]
rs7979165	1.00[ASN][1000 genomes]
rs829112	1.00[ASN][1000 genomes]
rs829114	1.00[ASN][1000 genomes]
rs829115	1.00[ASN][1000 genomes]
rs865489	1.00[ASN][1000 genomes]

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs2684900	DIP2B	cis	multi-tissue	Pritchard
rs2684900	CERS5	cis	Nerve Tibial	GTEx
rs2684900	LASS5	cis	multi-tissue	Pritchard
rs2684900	KIAA1463	cis	multi-tissue	Pritchard

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:51012000-51020000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr12:51012000-51020200	Enhancers	Cortex derived primary cultured neurospheres	brain
3	chr12:51012200-51019800	Enhancers	Primary T helper cells PMA-I stimulated	--
4	chr12:51012800-51020200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
5	chr12:51013000-51019600	Enhancers	Fetal Thymus	thymus
6	chr12:51013000-51020000	Enhancers	Primary hematopoietic stem cells short term culture	blood
7	chr12:51013400-51019800	Enhancers	Primary T helper cells fromperipheralblood	blood
8	chr12:51013400-51055200	Weak transcription	Aorta	Aorta
9	chr12:51014000-51020600	Enhancers	Fetal Lung	lung
10	chr12:51014400-51021400	Weak transcription	Lung	lung
11	chr12:51014400-51030400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr12:51014600-51041000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr12:51014800-51020800	Weak transcription	Fetal Muscle Trunk	muscle
14	chr12:51015000-51021400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr12:51015000-51027600	Weak transcription	NHDF-Ad	bronchial
16	chr12:51015600-51020200	Weak transcription	Placenta	Placenta
17	chr12:51015600-51021400	Weak transcription	Right Ventricle	heart
18	chr12:51015600-51075800	Weak transcription	Colonic Mucosa	Colon
19	chr12:51015800-51020000	Weak transcription	NHLF	lung
20	chr12:51015800-51020200	Enhancers	Brain Hippocampus Middle	brain
21	chr12:51015800-51020400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr12:51015800-51021200	Weak transcription	Gastric	stomach
23	chr12:51015800-51021200	Weak transcription	Hela-S3	cervix
24	chr12:51016000-51020000	Weak transcription	Fetal Brain Male	brain
25	chr12:51016000-51020000	Weak transcription	Osteobl	bone
26	chr12:51016000-51020400	Weak transcription	Stomach Mucosa	stomach
27	chr12:51016000-51020800	Weak transcription	Stomach Smooth Muscle	stomach
28	chr12:51016000-51021000	Enhancers	Brain Substantia Nigra	brain
29	chr12:51016000-51021200	Weak transcription	Ovary	ovary
30	chr12:51016000-51021400	Weak transcription	Fetal Kidney	kidney
31	chr12:51016000-51021400	Weak transcription	HMEC	breast
32	chr12:51016000-51027600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr12:51016000-51028200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr12:51016000-51030400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr12:51016000-51030600	Weak transcription	Psoas Muscle	Psoas
36	chr12:51016000-51065000	Weak transcription	Esophagus	oesophagus
37	chr12:51016200-51019800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr12:51016200-51020200	Weak transcription	Muscle Satellite Cultured Cells	--
39	chr12:51016200-51020800	Weak transcription	Fetal Brain Female	brain
40	chr12:51016200-51030400	Weak transcription	Brain Germinal Matrix	brain
41	chr12:51016200-51035400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr12:51016400-51020000	Weak transcription	A549	lung
43	chr12:51016400-51021400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr12:51016600-51020800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr12:51016600-51021200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
46	chr12:51016600-51039400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr12:51016800-51019800	Enhancers	Thymus	Thymus
48	chr12:51017000-51019600	Enhancers	Brain Inferior Temporal Lobe	brain
49	chr12:51017000-51027600	Weak transcription	NHEK	skin
50	chr12:51017200-51020200	Enhancers	Brain Cingulate Gyrus	brain

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