Variant report

Variant	rs3742063
Chromosome Location	chr12:51139803-51139804
allele	A/C
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	chr12:51137579..51140558-chr12:51140952..51144654,5	K562	blood:
2	chr12:51138761..51142670-chr12:51152791..51156201,3	K562	blood:
3	chr12:51132615..51134181-chr12:51138465..51141372,2	K562	blood:
4	chr12:51137634..51140155-chr12:51140406..51142062,2	MCF-7	breast:
5	chr12:51138457..51146051-chr12:51156159..51159814,11	MCF-7	breast:
6	chr12:51138743..51142670-chr12:51153238..51158236,5	K562	blood:
7	chr12:51139062..51150273-chr12:51151292..51159466,16	MCF-7	breast:
8	chr12:51127689..51130073-chr12:51139077..51141310,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000123268	Chromatin interaction

Extended variants
information (count: 120 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:120)

rs_ID	r²[population]
rs1003033	0.80[EUR][1000 genomes]
rs10431486	0.81[EUR][1000 genomes]
rs10431535	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10444547	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10459234	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10459235	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10506294	0.97[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10506295	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10747585	0.81[EUR][1000 genomes]
rs10747587	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10783369	0.80[EUR][1000 genomes]
rs10783370	0.81[EUR][1000 genomes]
rs10783371	0.81[EUR][1000 genomes]
rs10783372	0.81[EUR][1000 genomes]
rs10783374	0.81[EUR][1000 genomes]
rs10783378	0.81[EUR][1000 genomes]
rs10783381	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10783382	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10783383	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10783384	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10783389	0.86[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs10876047	0.81[EUR][1000 genomes]
rs10876051	0.80[EUR][1000 genomes]
rs10876052	0.80[EUR][1000 genomes]
rs10876053	0.81[EUR][1000 genomes]
rs10876058	0.81[EUR][1000 genomes]
rs10876061	0.81[EUR][1000 genomes]
rs10876063	0.81[EUR][1000 genomes]
rs10876065	0.81[EUR][1000 genomes]
rs10876070	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10876071	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10876072	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10876073	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10876075	0.93[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10876076	0.93[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10876080	0.85[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs10876081	0.88[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs10876089	0.88[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs10876090	0.86[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs10876094	0.86[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs10876095	0.84[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs10876096	0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs10876097	0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs11169479	0.81[EUR][1000 genomes]
rs11169480	0.81[EUR][1000 genomes]
rs11169487	0.81[EUR][1000 genomes]
rs11169493	0.80[EUR][1000 genomes]
rs11169505	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11169507	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11169515	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11169528	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11169532	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11169537	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11169538	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11169539	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11169544	0.88[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs11169552	0.88[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs11169554	0.88[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs11169560	0.86[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs11169561	0.86[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs11613488	0.81[EUR][1000 genomes]
rs11615933	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12230242	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12231309	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12231317	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12424860	0.88[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs12580051	0.93[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12580479	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12582712	0.81[EUR][1000 genomes]
rs12809086	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1344958	0.86[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs17124930	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2090851	0.81[EUR][1000 genomes]
rs35845404	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3742064	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3809319	0.88[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs3825402	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3893353	0.81[EUR][1000 genomes]
rs4026593	0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs4131769	0.81[EUR][1000 genomes]
rs4238106	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4238107	0.80[AFR][1000 genomes]
rs4238108	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4307773	0.94[ASN][1000 genomes]
rs4388959	0.81[EUR][1000 genomes]
rs4516034	0.81[EUR][1000 genomes]
rs4768850	0.81[EUR][1000 genomes]
rs4768853	0.81[EUR][1000 genomes]
rs4768858	0.93[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4768866	0.86[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs4768884	0.81[EUR][1000 genomes]
rs4768888	0.81[EUR][1000 genomes]
rs4768889	0.81[EUR][1000 genomes]
rs4768892	0.81[EUR][1000 genomes]
rs4768893	0.81[EUR][1000 genomes]
rs4768895	0.81[EUR][1000 genomes]
rs4768899	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4768904	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4768906	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4768907	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4768911	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4768912	0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4768913	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4768914	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4768917	0.88[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs4768921	0.88[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs4768922	0.86[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs4768923	0.86[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs61926275	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6580761	0.82[EUR][1000 genomes]
rs7134976	0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7138604	0.81[EUR][1000 genomes]
rs7307419	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs73094900	0.88[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs73096846	0.88[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs7956591	0.81[EUR][1000 genomes]
rs876078	0.93[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs876079	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs952318	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9788159	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs3742063	DIP2B	cis	Thyroid	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:51063600-51145400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
2	chr12:51067400-51143600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
3	chr12:51067600-51142200	Strong transcription	Primary T helper cells fromperipheralblood	blood
4	chr12:51068200-51141200	Strong transcription	Placenta	Placenta
5	chr12:51068200-51144000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr12:51080200-51145400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr12:51086200-51140800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr12:51086200-51142600	Strong transcription	Primary T helper cells PMA-I stimulated	--
9	chr12:51090400-51145400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr12:51096000-51142000	Strong transcription	Fetal Muscle Leg	muscle
11	chr12:51096200-51144600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr12:51101000-51144800	Strong transcription	Fetal Stomach	stomach
13	chr12:51108200-51142200	Strong transcription	Sigmoid Colon	Sigmoid Colon
14	chr12:51110600-51141200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr12:51110600-51144800	Strong transcription	Rectal Mucosa Donor 31	rectum
16	chr12:51110800-51142200	Strong transcription	Lung	lung
17	chr12:51111400-51141600	Strong transcription	HUES64 Cell Line	embryonic stem cell
18	chr12:51111400-51141800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr12:51111400-51144600	Strong transcription	Fetal Muscle Trunk	muscle
20	chr12:51111600-51142200	Strong transcription	Primary T cells fromperipheralblood	blood
21	chr12:51112000-51141800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
22	chr12:51112000-51142000	Strong transcription	Dnd41	blood
23	chr12:51112000-51144800	Strong transcription	Primary T cells from cord blood	blood
24	chr12:51112200-51144800	Strong transcription	Rectal Mucosa Donor 29	rectum
25	chr12:51114200-51144800	Strong transcription	Cortex derived primary cultured neurospheres	brain
26	chr12:51114800-51141800	Strong transcription	HepG2	liver
27	chr12:51114800-51142400	Strong transcription	Duodenum Mucosa	Duodenum
28	chr12:51116200-51140200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
29	chr12:51116200-51144000	Strong transcription	Fetal Intestine Large	intestine
30	chr12:51116800-51144000	Strong transcription	Primary B cells from peripheral blood	blood
31	chr12:51116800-51144800	Strong transcription	Primary B cells from cord blood	blood
32	chr12:51118200-51143600	Strong transcription	Adipose Nuclei	Adipose
33	chr12:51119200-51144600	Strong transcription	Liver	Liver
34	chr12:51120200-51140400	Strong transcription	Fetal Intestine Small	intestine
35	chr12:51120800-51145400	Strong transcription	Fetal Thymus	thymus
36	chr12:51121000-51140200	Strong transcription	Left Ventricle	heart
37	chr12:51121400-51142200	Strong transcription	GM12878-XiMat	blood
38	chr12:51121400-51145400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr12:51121600-51142000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr12:51121600-51142400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
41	chr12:51123000-51142400	Strong transcription	Skeletal Muscle Male	skeletal muscle
42	chr12:51123200-51141800	Strong transcription	Skeletal Muscle Female	skeletal muscle
43	chr12:51126600-51145400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr12:51126600-51146600	Weak transcription	Pancreatic Islets	Pancreatic Islet
45	chr12:51128400-51142000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr12:51128600-51141600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr12:51128600-51142400	Strong transcription	Brain Inferior Temporal Lobe	brain
48	chr12:51128600-51144200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr12:51128800-51142000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr12:51128800-51142000	Strong transcription	Ovary	ovary

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