Variant report

Variant	rs7298661
Chromosome Location	chr12:51021260-51021261
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	chr12:51015875..51020257-chr12:51020735..51026058,6	MCF-7	breast:
4	chr12:51009757..51011293-chr12:51019509..51021830,2	K562	blood:
5	chr12:51013472..51015886-chr12:51019988..51021681,3	K562	blood:
6	chr12:51012020..51014693-chr12:51019365..51022263,2	MCF-7	breast:
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: 54 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs10747583	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10783375	0.89[ASN][1000 genomes]
rs10876045	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10876055	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10876059	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10876066	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10876069	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs10876074	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11169453	0.84[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs11169484	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11169486	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11169490	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11169492	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11169506	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11169523	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11169524	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12307178	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12372538	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12425362	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12427378	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12582683	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12814717	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12818741	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12825915	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1316442	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1316607	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13378012	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1967576	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2090851	0.92[ASN][1000 genomes]
rs2090852	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2139930	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2243571	0.96[ASN][1000 genomes]
rs2280503	0.89[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs2684908	0.92[ASN][1000 genomes]
rs34553264	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs3742062	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs3935138	0.85[ASN][1000 genomes]
rs3935870	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs61699126	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs61926278	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6580761	0.88[ASN][1000 genomes]
rs67092086	0.83[ASN][1000 genomes]
rs7133160	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7133687	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7137845	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7298665	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7302435	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7305375	0.99[ASN][1000 genomes]
rs7316864	0.85[ASN][1000 genomes]
rs7397999	0.85[ASN][1000 genomes]
rs7487429	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7965652	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs876080	0.80[ASN][1000 genomes]
rs9788075	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs7298661	DIP2B	Cis_1M	lymphoblastoid	RTeQTL
rs7298661	ATF1	cis	Artery Tibial	GTEx
rs7298661	CERS5	cis	Nerve Tibial	GTEx

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	chr12:51014400-51021400	Weak transcription	Lung	lung
3	chr12:51014400-51030400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr12:51014600-51041000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr12:51015000-51021400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr12:51015000-51027600	Weak transcription	NHDF-Ad	bronchial
7	chr12:51015600-51021400	Weak transcription	Right Ventricle	heart
8	chr12:51015600-51075800	Weak transcription	Colonic Mucosa	Colon
9	chr12:51016000-51021400	Weak transcription	Fetal Kidney	kidney
10	chr12:51016000-51021400	Weak transcription	HMEC	breast
11	chr12:51016000-51027600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr12:51016000-51028200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr12:51016000-51030400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr12:51016000-51030600	Weak transcription	Psoas Muscle	Psoas
15	chr12:51016000-51065000	Weak transcription	Esophagus	oesophagus
16	chr12:51016200-51030400	Weak transcription	Brain Germinal Matrix	brain
17	chr12:51016200-51035400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr12:51016400-51021400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr12:51016600-51039400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr12:51017000-51027600	Weak transcription	NHEK	skin
21	chr12:51017800-51042800	Weak transcription	Rectal Smooth Muscle	rectum
22	chr12:51018200-51021400	Enhancers	Spleen	Spleen
23	chr12:51018400-51021600	Enhancers	Rectal Mucosa Donor 31	rectum
24	chr12:51018800-51027800	Weak transcription	Left Ventricle	heart
25	chr12:51019400-51028200	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr12:51019600-51023600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr12:51019600-51025400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr12:51019600-51030000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
29	chr12:51019600-51031000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr12:51019600-51031200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
31	chr12:51019600-51046400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
32	chr12:51019800-51021800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr12:51019800-51022400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
34	chr12:51019800-51023800	Strong transcription	Primary T cells fromperipheralblood	blood
35	chr12:51019800-51030400	Weak transcription	HUES6 Cell Line	embryonic stem cell
36	chr12:51019800-51031400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
37	chr12:51020000-51023600	Strong transcription	Primary T cells from cord blood	blood
38	chr12:51020000-51026200	Strong transcription	Fetal Thymus	thymus
39	chr12:51020000-51028000	Weak transcription	Fetal Heart	heart
40	chr12:51020000-51031400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
41	chr12:51020200-51021400	Weak transcription	H9 Cell Line	embryonic stem cell
42	chr12:51020200-51021800	Genic enhancers	Brain Cingulate Gyrus	brain
43	chr12:51020200-51022400	Strong transcription	Skeletal Muscle Female	skeletal muscle
44	chr12:51020200-51023400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
45	chr12:51020200-51023600	Strong transcription	GM12878-XiMat	blood
46	chr12:51020200-51024000	Weak transcription	Placenta Amnion	Placenta Amnion
47	chr12:51020200-51025000	Strong transcription	Primary T helper cells PMA-I stimulated	--
48	chr12:51020200-51026200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr12:51020200-51028200	Weak transcription	Colon Smooth Muscle	Colon
50	chr12:51020200-51030400	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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