Variant report

Variant	rs7968119
Chromosome Location	chr12:50507709-50507710
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:50506553..50508392-chr12:50677270..50679374,2	K562	blood:
2	chr12:50506976..50509315-chr12:50512886..50514757,3	K562	blood:
3	chr12:50504614..50508392-chr12:50676689..50680044,5	K562	blood:
4	chr12:50506326..50509315-chr12:50512899..50514726,2	K562	blood:
5	chr12:50503326..50508590-chr12:50559314..50563839,9	MCF-7	breast:
6	chr12:50506379..50508104-chr12:50510403..50512251,3	K562	blood:
7	chr12:50503967..50508677-chr12:50559559..50562905,8	MCF-7	breast:

Variant related genes	Relation type
ENSG00000050405	Chromatin interaction
ENSG00000203433	Chromatin interaction
ENSG00000139624	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10735824	0.88[EUR][1000 genomes]
rs10783338	0.96[CEU][hapmap];0.90[EUR][1000 genomes]
rs10876000	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11169278	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11169281	1.00[CEU][hapmap];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11169282	1.00[CEU][hapmap];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12369049	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12369104	0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12819883	0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1554844	1.00[CEU][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1554845	0.92[CEU][hapmap];0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17124432	1.00[CEU][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2204683	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3184122	0.84[CEU][hapmap]
rs34167640	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3741562	1.00[CEU][hapmap];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs59262224	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6580728	0.96[CEU][hapmap];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7135322	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7138945	0.96[CEU][hapmap];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7294618	1.00[CEU][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7307230	1.00[CEU][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7307469	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7308474	1.00[CEU][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7398567	0.88[EUR][1000 genomes]
rs7961065	1.00[CEU][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7961112	1.00[CEU][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7964698	0.89[EUR][1000 genomes]
rs7967979	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7972465	1.00[CEU][hapmap];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7978904	0.83[EUR][1000 genomes]
rs836178	0.81[ASN][1000 genomes]
rs9364	0.82[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1045327	chr12:49975040-50551375	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	170 gene(s)	inside rSNPs	diseases
2	nsv541490	chr12:49975040-50551375	Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	170 gene(s)	inside rSNPs	diseases
3	nsv530671	chr12:50233858-50708991	Flanking Active TSS Active TSS Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
4	esv3392138	chr12:50394642-50645326	Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
5	nsv558840	chr12:50449976-50523964	Enhancers Active TSS Genic enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs7968119	KIAA1463	cis	multi-tissue	Pritchard
rs7968119	CERS5	cis	Nerve Tibial	GTEx
rs7968119	DIP2B	Cis_1M	lymphoblastoid	RTeQTL
rs7968119	CERS5	cis	Muscle Skeletal	GTEx

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:50505200-50507800	Active TSS	GM12878-XiMat	blood
2	chr12:50506600-50507800	Weak transcription	Spleen	Spleen
3	chr12:50506800-50521000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr12:50506800-50523600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr12:50507000-50507800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr12:50507000-50507800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr12:50507000-50507800	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr12:50507000-50507800	Enhancers	Primary B cells from peripheral blood	blood
9	chr12:50507000-50507800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
10	chr12:50507000-50507800	Weak transcription	Brain Angular Gyrus	brain
11	chr12:50507000-50507800	Weak transcription	Lung	lung
12	chr12:50507000-50507800	Weak transcription	Ovary	ovary
13	chr12:50507000-50507800	Weak transcription	Pancreas	Pancrea
14	chr12:50507000-50507800	Weak transcription	Psoas Muscle	Psoas
15	chr12:50507000-50508000	Enhancers	Primary T cells from cord blood	blood
16	chr12:50507000-50508000	Enhancers	Fetal Muscle Leg	muscle
17	chr12:50507000-50508200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr12:50507000-50508200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
19	chr12:50507000-50508200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr12:50507000-50508200	Weak transcription	Fetal Stomach	stomach
21	chr12:50507000-50508400	Enhancers	Primary T helper naive cells from peripheral blood	blood
22	chr12:50507000-50508400	Enhancers	Fetal Thymus	thymus
23	chr12:50507000-50508400	Enhancers	Left Ventricle	heart
24	chr12:50507000-50508600	Enhancers	Colon Smooth Muscle	Colon
25	chr12:50507000-50508800	Enhancers	Adipose Nuclei	Adipose
26	chr12:50507000-50509200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
27	chr12:50507000-50509200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
28	chr12:50507000-50509200	Weak transcription	Gastric	stomach
29	chr12:50507000-50509400	Weak transcription	Brain Cingulate Gyrus	brain
30	chr12:50507000-50510000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr12:50507000-50510200	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr12:50507000-50510400	Weak transcription	HSMMtube	muscle
33	chr12:50507000-50513000	Weak transcription	Esophagus	oesophagus
34	chr12:50507000-50513200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr12:50507000-50513200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr12:50507000-50513600	Weak transcription	Fetal Kidney	kidney
37	chr12:50507000-50513800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr12:50507000-50520800	Weak transcription	Fetal Lung	lung
39	chr12:50507000-50520800	Weak transcription	NH-A	brain
40	chr12:50507000-50522400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
41	chr12:50507000-50522800	Weak transcription	H1 Cell Line	embryonic stem cell
42	chr12:50507000-50522800	Weak transcription	HUES48 Cell Line	embryonic stem cell
43	chr12:50507000-50523600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
44	chr12:50507000-50537400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
45	chr12:50507000-50539600	Weak transcription	Stomach Mucosa	stomach
46	chr12:50507200-50507800	Enhancers	Primary hematopoietic stem cells short term culture	blood
47	chr12:50507200-50507800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
48	chr12:50507200-50507800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr12:50507200-50507800	Weak transcription	Muscle Satellite Cultured Cells	--
50	chr12:50507200-50507800	Enhancers	Fetal Intestine Large	intestine

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