Variant report

Variant	rs2700479
Chromosome Location	chr12:51020471-51020472
allele	A/G
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:51018962..51024057-chr12:51028915..51032528,4	K562	blood:
2	chr12:51020299..51023018-chr12:51030928..51032901,3	K562	blood:
3	chr12:51009757..51011293-chr12:51019509..51021830,2	K562	blood:
4	chr12:51013472..51015886-chr12:51019988..51021681,3	K562	blood:
5	chr12:51012020..51014693-chr12:51019365..51022263,2	MCF-7	breast:
6	chr12:51007874..51011257-chr12:51018084..51021009,3	K562	blood:
7	chr12:51019148..51021821-chr12:51028441..51030840,3	MCF-7	breast:
8	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: 3 )

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

rs_ID	r²[population]
rs10747586	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10783366	0.89[CEU][hapmap]
rs10783377	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10783380	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10876041	0.92[CEU][hapmap]
rs10876044	0.92[CEU][hapmap]
rs10876046	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1109726	1.00[ASN][1000 genomes]
rs11609231	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11609506	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11609941	1.00[ASN][1000 genomes]
rs11611288	1.00[CEU][hapmap];1.00[YRI][hapmap];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11832315	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[YRI][hapmap];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12821270	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1521516	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[YRI][hapmap]
rs2250751	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2250752	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2251024	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2251603	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2252589	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2554862	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs2684889	1.00[CEU][hapmap];0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2684898	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2684900	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]
rs2684901	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2700480	1.00[CEU][hapmap];0.91[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2700482	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.84[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];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2731434	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2731439	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.85[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];0.89[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];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2731443	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55939211	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56089074	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56104942	0.80[AMR][1000 genomes];0.85[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];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66644594	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[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];0.89[EUR][1000 genomes]
rs67934435	1.00[ASN][1000 genomes]
rs68171620	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7131795	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7135837	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7300979	0.82[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];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7307788	1.00[ASN][1000 genomes]
rs7307815	0.83[AMR][1000 genomes];0.89[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];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];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7977742	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap]
rs7978559	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs7979165	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs829112	1.00[CHB][hapmap];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:3)

SNP	Gene	Cis/trans	Tissue	Source
rs2700479	CERS5	cis	Nerve Tibial	GTEx
rs2700479	LASS5	cis	multi-tissue	Pritchard
rs2700479	KIAA1463	cis	multi-tissue	Pritchard

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:51013400-51055200	Weak transcription	Aorta	Aorta
2	chr12:51014000-51020600	Enhancers	Fetal Lung	lung
3	chr12:51014400-51021400	Weak transcription	Lung	lung
4	chr12:51014400-51030400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr12:51014600-51041000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr12:51014800-51020800	Weak transcription	Fetal Muscle Trunk	muscle
7	chr12:51015000-51021400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr12:51015000-51027600	Weak transcription	NHDF-Ad	bronchial
9	chr12:51015600-51021400	Weak transcription	Right Ventricle	heart
10	chr12:51015600-51075800	Weak transcription	Colonic Mucosa	Colon
11	chr12:51015800-51021200	Weak transcription	Gastric	stomach
12	chr12:51015800-51021200	Weak transcription	Hela-S3	cervix
13	chr12:51016000-51020800	Weak transcription	Stomach Smooth Muscle	stomach
14	chr12:51016000-51021000	Enhancers	Brain Substantia Nigra	brain
15	chr12:51016000-51021200	Weak transcription	Ovary	ovary
16	chr12:51016000-51021400	Weak transcription	Fetal Kidney	kidney
17	chr12:51016000-51021400	Weak transcription	HMEC	breast
18	chr12:51016000-51027600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr12:51016000-51028200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr12:51016000-51030400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr12:51016000-51030600	Weak transcription	Psoas Muscle	Psoas
22	chr12:51016000-51065000	Weak transcription	Esophagus	oesophagus
23	chr12:51016200-51020800	Weak transcription	Fetal Brain Female	brain
24	chr12:51016200-51030400	Weak transcription	Brain Germinal Matrix	brain
25	chr12:51016200-51035400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr12:51016400-51021400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr12:51016600-51020800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr12:51016600-51021200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr12:51016600-51039400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr12:51017000-51027600	Weak transcription	NHEK	skin
31	chr12:51017200-51021200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr12:51017800-51020800	Weak transcription	Fetal Stomach	stomach
33	chr12:51017800-51042800	Weak transcription	Rectal Smooth Muscle	rectum
34	chr12:51018000-51021000	Enhancers	Primary monocytes fromperipheralblood	blood
35	chr12:51018200-51020600	Enhancers	Adipose Nuclei	Adipose
36	chr12:51018200-51020800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr12:51018200-51021000	Enhancers	Duodenum Mucosa	Duodenum
38	chr12:51018200-51021400	Enhancers	Spleen	Spleen
39	chr12:51018400-51020600	Enhancers	HUES64 Cell Line	embryonic stem cell
40	chr12:51018400-51020600	Enhancers	Fetal Intestine Small	intestine
41	chr12:51018400-51020800	Weak transcription	Pancreas	Pancrea
42	chr12:51018400-51020800	Enhancers	HUVEC	blood vessel
43	chr12:51018400-51021600	Enhancers	Rectal Mucosa Donor 31	rectum
44	chr12:51018600-51020600	Enhancers	Primary neutrophils fromperipheralblood	blood
45	chr12:51018600-51020600	Enhancers	Fetal Intestine Large	intestine
46	chr12:51018600-51020800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr12:51018600-51021000	Enhancers	HSMMtube	muscle
48	chr12:51018800-51020800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr12:51018800-51020800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
50	chr12:51018800-51027800	Weak transcription	Left Ventricle	heart

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