Variant report

Variant	rs10876072
Chromosome Location	chr12:51013559-51013560
allele	C/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:18)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:50952847..50954871-chr12:51013414..51015367,2	MCF-7	breast:
2	chr12:51012150..51015682-chr12:51031873..51033630,3	MCF-7	breast:
3	chr12:51011614..51015432-chr12:51015649..51019939,6	MCF-7	breast:
4	chr12:51008134..51009859-chr12:51011789..51014896,3	K562	blood:
5	chr12:51013472..51015886-chr12:51019988..51021681,3	K562	blood:
6	chr12:51007470..51011222-chr12:51011716..51014523,4	K562	blood:
7	chr12:50898130..50900201-chr12:51012676..51014777,2	MCF-7	breast:
8	chr12:51011830..51013610-chr12:51014850..51017833,2	MCF-7	breast:
9	chr12:51012020..51014693-chr12:51019365..51022263,2	MCF-7	breast:
10	chr12:50896850..50900155-chr12:51012799..51015925,4	K562	blood:
11	chr12:51007083..51009997-chr12:51013240..51015413,4	MCF-7	breast:
12	chr12:50972299..50974620-chr12:51011997..51014458,2	MCF-7	breast:
13	chr12:50898246..50903498-chr12:51010215..51015015,10	MCF-7	breast:
14	chr12:50994951..50996590-chr12:51012616..51015184,2	MCF-7	breast:
15	chr12:51002262..51004341-chr12:51012837..51014454,2	MCF-7	breast:
16	chr12:50974887..50977469-chr12:51012857..51015766,3	MCF-7	breast:
17	chr12:51007721..51011700-chr12:51012673..51015464,4	MCF-7	breast:
18	chr12:50925165..50930036-chr12:51011670..51016786,5	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000066084	Chromatin interaction

Extended variants
information (count: 122 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:121)

rs_ID	r²[population]
rs1003033	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10431486	0.92[EUR][1000 genomes]
rs10431535	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10444547	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10459233	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs10459234	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10459235	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10506294	1.00[CEU][hapmap];0.86[CHB][hapmap];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10506295	1.00[CEU][hapmap];0.86[CHB][hapmap];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10747584	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10747585	0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10747587	1.00[CEU][hapmap];0.86[CHB][hapmap];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10783369	0.91[EUR][1000 genomes]
rs10783370	0.92[EUR][1000 genomes]
rs10783371	0.92[EUR][1000 genomes]
rs10783372	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10783373	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10783374	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10783378	0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10783381	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10783382	1.00[CEU][hapmap];0.81[CHB][hapmap];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10783383	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10783384	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10876042	0.88[EUR][1000 genomes]
rs10876043	0.89[EUR][1000 genomes]
rs10876047	1.00[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap];0.92[EUR][1000 genomes]
rs10876051	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes]
rs10876052	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes]
rs10876053	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes]
rs10876056	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10876058	0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10876060	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10876061	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10876063	0.94[CHB][hapmap];0.88[JPT][hapmap];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10876065	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10876067	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs10876068	0.86[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs10876070	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10876071	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10876073	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10876075	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10876076	1.00[CEU][hapmap];0.86[CHB][hapmap];0.88[JPT][hapmap];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11169479	1.00[CEU][hapmap];0.95[CHB][hapmap];0.93[JPT][hapmap];0.92[EUR][1000 genomes]
rs11169480	0.92[EUR][1000 genomes]
rs11169481	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11169483	0.87[EUR][1000 genomes]
rs11169487	0.92[EUR][1000 genomes]
rs11169493	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11169498	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11169505	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11169507	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11169515	1.00[CEU][hapmap];0.86[CHB][hapmap];0.88[JPT][hapmap];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11169528	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11169532	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11169537	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11169538	0.93[CEU][hapmap];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11169539	0.89[CEU][hapmap];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11612002	0.84[CEU][hapmap]
rs11613488	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11615933	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12230242	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12231309	1.00[CEU][hapmap];0.86[CHB][hapmap];0.88[JPT][hapmap];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12231317	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12580051	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12580479	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12582712	0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12809086	1.00[CEU][hapmap];0.86[CHB][hapmap];0.88[JPT][hapmap];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12827022	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17124930	1.00[CEU][hapmap];0.85[CHB][hapmap];0.92[YRI][hapmap];0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2243571	0.84[EUR][1000 genomes]
rs2684908	0.90[CEU][hapmap];0.81[EUR][1000 genomes]
rs2700478	0.86[EUR][1000 genomes]
rs34867510	0.88[EUR][1000 genomes]
rs35845404	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs3742063	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs3742064	0.90[CEU][hapmap];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs3825402	0.90[CEU][hapmap];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs3893353	0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3935138	0.89[CEU][hapmap]
rs3935869	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4131769	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4238106	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4238107	0.81[ASN][1000 genomes]
rs4238108	1.00[CEU][hapmap];0.86[CHB][hapmap];0.88[JPT][hapmap];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4516034	0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4768850	0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4768852	0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4768853	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4768858	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4768884	0.92[EUR][1000 genomes]
rs4768888	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4768889	0.92[EUR][1000 genomes]
rs4768890	0.81[EUR][1000 genomes]
rs4768892	0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4768893	0.84[CHB][hapmap];0.92[EUR][1000 genomes]
rs4768895	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4768899	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4768903	0.82[CHB][hapmap];0.88[JPT][hapmap]
rs4768904	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4768906	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4768907	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4768911	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4768912	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4768913	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4768914	0.94[CEU][hapmap];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4768975	1.00[CEU][hapmap]
rs55680342	0.90[EUR][1000 genomes]
rs55877451	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61926275	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6580761	0.90[CEU][hapmap]
rs7134976	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7138604	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7305375	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs7307419	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7316864	0.86[CEU][hapmap]
rs7956591	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[JPT][hapmap];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs876078	1.00[CEU][hapmap];0.90[CHB][hapmap];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs876079	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs876080	0.90[CEU][hapmap];0.84[EUR][1000 genomes]
rs952318	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9788159	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1822840	chr12:50973897-51015509	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10876072	DIP2B	cis	Thyroid	GTEx

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:50979200-51013800	Weak transcription	Fetal Stomach	stomach
2	chr12:50991600-51014000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr12:50992400-51015200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr12:50993000-51013800	Weak transcription	Primary T cells fromperipheralblood	blood
5	chr12:50993000-51013800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr12:50994600-51018600	Weak transcription	Primary neutrophils fromperipheralblood	blood
7	chr12:50997600-51014200	Weak transcription	Spleen	Spleen
8	chr12:51003600-51015400	Enhancers	Brain Hippocampus Middle	brain
9	chr12:51005000-51013600	Weak transcription	Fetal Muscle Trunk	muscle
10	chr12:51005600-51013800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr12:51005800-51013800	Weak transcription	Primary hematopoietic stem cells	blood
12	chr12:51006000-51014000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr12:51006000-51014200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
14	chr12:51006200-51014000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr12:51006600-51016000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr12:51007000-51017600	Weak transcription	Monocytes-CD14+_RO01746	blood
17	chr12:51007200-51013600	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr12:51007400-51014000	Weak transcription	Primary B cells from peripheral blood	blood
19	chr12:51007600-51014200	Weak transcription	Primary B cells from cord blood	blood
20	chr12:51008200-51014600	Weak transcription	Fetal Kidney	kidney
21	chr12:51008400-51013800	Weak transcription	Adipose Nuclei	Adipose
22	chr12:51008600-51013800	Weak transcription	Psoas Muscle	Psoas
23	chr12:51008600-51014200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
24	chr12:51008600-51015400	Weak transcription	Ovary	ovary
25	chr12:51008600-51015600	Weak transcription	HUVEC	blood vessel
26	chr12:51008800-51013800	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr12:51008800-51014000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
28	chr12:51008800-51014000	Weak transcription	Fetal Lung	lung
29	chr12:51009800-51016000	Enhancers	HMEC	breast
30	chr12:51010000-51013800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr12:51010000-51013800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr12:51010000-51013800	Weak transcription	Liver	Liver
33	chr12:51010000-51013800	Weak transcription	Skeletal Muscle Male	skeletal muscle
34	chr12:51010000-51014000	Weak transcription	H9 Cell Line	embryonic stem cell
35	chr12:51010000-51014000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr12:51010200-51013800	Weak transcription	Pancreatic Islets	Pancreatic Islet
37	chr12:51010200-51014000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
38	chr12:51010200-51014000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr12:51010400-51013800	Weak transcription	HUES48 Cell Line	embryonic stem cell
40	chr12:51010400-51014000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
41	chr12:51010400-51016400	Enhancers	Breast Myoepithelial Primary Cells	Breast
42	chr12:51012000-51014600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr12:51012000-51015200	Enhancers	Brain Cingulate Gyrus	brain
44	chr12:51012000-51015400	Enhancers	Brain Substantia Nigra	brain
45	chr12:51012000-51016000	Enhancers	Placenta Amnion	Placenta Amnion
46	chr12:51012000-51016200	Enhancers	Rectal Mucosa Donor 31	rectum
47	chr12:51012000-51016600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
48	chr12:51012000-51016600	Enhancers	Fetal Intestine Large	intestine
49	chr12:51012000-51017800	Enhancers	Duodenum Mucosa	Duodenum
50	chr12:51012000-51020000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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