Variant report

Variant	rs7964698
Chromosome Location	chr12:50507179-50507180
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:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:16 , 50 per page) page: 1

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	chr12:50504921..50507290-chr12:50793420..50795913,2	K562	blood:
4	chr12:50504614..50508392-chr12:50676689..50680044,5	K562	blood:
5	chr12:50452237..50453974-chr12:50505551..50507211,2	K562	blood:
6	chr12:50475972..50484033-chr12:50500850..50507517,14	K562	blood:
7	chr12:50504921..50507362-chr12:50794413..50796105,2	K562	blood:
8	chr12:50478595..50483647-chr12:50502911..50507517,7	K562	blood:
9	chr12:50506326..50509315-chr12:50512899..50514726,2	K562	blood:
10	chr12:50504059..50507401-chr12:50559290..50562708,7	K562	blood:
11	chr12:50505504..50507655-chr12:50614479..50616710,2	MCF-7	breast:
12	chr12:50503326..50508590-chr12:50559314..50563839,9	MCF-7	breast:
13	chr12:50471491..50474468-chr12:50505629..50507284,2	K562	blood:
14	chr12:50506379..50508104-chr12:50510403..50512251,3	K562	blood:
15	chr12:50503967..50508677-chr12:50559559..50562905,8	MCF-7	breast:
16	chr12:50499334..50507442-chr12:50559441..50562987,11	K562	blood:

No data

Variant related genes	Relation type
ENSG00000203433	Chromatin interaction
ENSG00000110881	Chromatin interaction
ENSG00000139624	Chromatin interaction
ENSG00000066117	Chromatin interaction
ENSG00000050405	Chromatin interaction
ENSG00000161813	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10735824	0.80[EUR][1000 genomes]
rs10783338	0.82[EUR][1000 genomes]
rs10875995	0.83[ASN][1000 genomes]
rs10876000	0.86[EUR][1000 genomes]
rs11169270	0.83[ASN][1000 genomes]
rs11169278	0.86[EUR][1000 genomes]
rs11169281	0.85[EUR][1000 genomes]
rs11169282	0.85[EUR][1000 genomes]
rs12369049	0.89[EUR][1000 genomes]
rs12369104	0.85[EUR][1000 genomes]
rs12819883	0.84[EUR][1000 genomes]
rs1554844	0.89[EUR][1000 genomes]
rs1554845	0.86[EUR][1000 genomes]
rs17124432	0.89[EUR][1000 genomes]
rs2204683	0.86[EUR][1000 genomes]
rs3184122	0.86[ASN][1000 genomes]
rs34167640	0.89[EUR][1000 genomes]
rs3741562	0.85[EUR][1000 genomes]
rs56990521	0.83[ASN][1000 genomes]
rs59262224	0.89[EUR][1000 genomes]
rs6580728	0.86[EUR][1000 genomes]
rs7135322	0.86[EUR][1000 genomes]
rs7138945	0.85[EUR][1000 genomes]
rs7294618	0.89[EUR][1000 genomes]
rs7307230	0.89[EUR][1000 genomes]
rs7307469	0.89[EUR][1000 genomes]
rs7308474	0.89[EUR][1000 genomes]
rs73299515	0.83[ASN][1000 genomes]
rs73299518	0.83[ASN][1000 genomes]
rs7398567	0.82[EUR][1000 genomes]
rs7956491	0.83[ASN][1000 genomes]
rs7961065	0.89[EUR][1000 genomes]
rs7961112	0.89[EUR][1000 genomes]
rs7967979	0.87[EUR][1000 genomes]
rs7968119	0.89[EUR][1000 genomes]
rs7972465	0.82[EUR][1000 genomes]

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:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7964698	DIP2B	Cis_1M	lymphoblastoid	RTeQTL
rs7964698	CERS5	cis	Nerve Tibial	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:50505000-50507200	Active TSS	HUES64 Cell Line	embryonic stem cell
2	chr12:50505200-50507200	Active TSS	ES-I3 Cell Line	embryonic stem cell
3	chr12:50505200-50507200	Active TSS	HUES6 Cell Line	embryonic stem cell
4	chr12:50505200-50507200	Active TSS	iPS-20b Cell Line	embryonic stem cell
5	chr12:50505200-50507200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr12:50505200-50507200	Active TSS	Sigmoid Colon	Sigmoid Colon
7	chr12:50505200-50507200	Active TSS	HSMM	muscle
8	chr12:50505200-50507400	Active TSS	Breast Myoepithelial Primary Cells	Breast
9	chr12:50505200-50507400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr12:50505200-50507400	Active TSS	Brain Anterior Caudate	brain
11	chr12:50505200-50507600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr12:50505200-50507600	Active TSS	K562	blood
13	chr12:50505200-50507800	Active TSS	GM12878-XiMat	blood
14	chr12:50505400-50507200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr12:50505400-50507200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr12:50505400-50507200	Active TSS	A549	lung
17	chr12:50505400-50507200	Active TSS	HMEC	breast
18	chr12:50505400-50507200	Active TSS	NHDF-Ad	bronchial
19	chr12:50505400-50507600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr12:50505400-50507600	Active TSS	Hela-S3	cervix
21	chr12:50505600-50507200	Active TSS	Muscle Satellite Cultured Cells	--
22	chr12:50505600-50507200	Active TSS	Fetal Intestine Large	intestine
23	chr12:50505600-50507600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr12:50505800-50507200	Active TSS	Pancreatic Islets	Pancreatic Islet
25	chr12:50505800-50507200	Active TSS	NHLF	lung
26	chr12:50505800-50507400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr12:50506000-50507200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr12:50506000-50507200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr12:50506000-50507200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
30	chr12:50506200-50507200	Flanking Active TSS	Primary B cells from cord blood	blood
31	chr12:50506400-50507200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr12:50506400-50507200	Flanking Active TSS	Liver	Liver
33	chr12:50506400-50507200	Active TSS	Brain Germinal Matrix	brain
34	chr12:50506400-50507200	Active TSS	Right Atrium	heart
35	chr12:50506400-50507400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr12:50506600-50507200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
37	chr12:50506600-50507200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
38	chr12:50506600-50507200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
39	chr12:50506600-50507200	Flanking Active TSS	Duodenum Mucosa	Duodenum
40	chr12:50506600-50507200	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
41	chr12:50506600-50507200	Flanking Active TSS	Placenta	Placenta
42	chr12:50506600-50507200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
43	chr12:50506600-50507200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
44	chr12:50506600-50507200	Flanking Active TSS	Stomach Smooth Muscle	stomach
45	chr12:50506600-50507200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
46	chr12:50506600-50507400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr12:50506600-50507800	Weak transcription	Spleen	Spleen
48	chr12:50506800-50507200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
49	chr12:50506800-50507200	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr12:50506800-50507200	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood

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