Variant report

Variant	rs7307419
Chromosome Location	chr12:51007013-51007014
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:51004677..51007601-chr12:51009025..51010715,2	K562	blood:
2	chr12:50992844..50995799-chr12:51006499..51009259,2	K562	blood:
3	chr12:51005135..51007601-chr12:51009064..51012183,3	K562	blood:
4	chr12:50896962..50902107-chr12:51006167..51010082,7	MCF-7	breast:
5	chr12:50988872..50990700-chr12:51006546..51009118,2	MCF-7	breast:
6	chr12:50987041..50990767-chr12:51006413..51009565,3	K562	blood:

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	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10444547	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[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	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10506294	1.00[CEU][hapmap];0.85[CHB][hapmap];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10506295	1.00[CEU][hapmap];0.85[CHB][hapmap];0.95[YRI][hapmap];0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10747584	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10747585	0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10747587	1.00[CEU][hapmap];0.85[CHB][hapmap];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10783369	0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10783370	0.92[EUR][1000 genomes]
rs10783371	0.92[EUR][1000 genomes]
rs10783372	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10783373	1.00[CEU][hapmap];0.94[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];0.85[ASN][1000 genomes]
rs10783381	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10783382	1.00[CEU][hapmap];0.95[YRI][hapmap];0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10783383	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10783384	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];0.89[CHB][hapmap];0.94[JPT][hapmap];0.92[EUR][1000 genomes]
rs10876051	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10876052	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10876053	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes]
rs10876056	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10876058	0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10876060	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10876061	0.94[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10876063	0.93[CHB][hapmap];0.94[JPT][hapmap];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10876065	1.00[CEU][hapmap];0.94[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];0.95[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs10876068	0.86[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs10876070	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10876071	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10876072	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]
rs10876073	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10876075	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10876076	1.00[CEU][hapmap];0.85[CHB][hapmap];0.88[JPT][hapmap];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11169479	1.00[CEU][hapmap];0.89[CHB][hapmap];0.93[JPT][hapmap];0.92[EUR][1000 genomes]
rs11169480	0.92[EUR][1000 genomes]
rs11169481	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11169483	0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11169487	0.92[EUR][1000 genomes]
rs11169493	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11169498	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11169505	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11169507	1.00[CEU][hapmap];0.83[CHB][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11169515	1.00[CEU][hapmap];0.85[CHB][hapmap];0.88[JPT][hapmap];0.94[YRI][hapmap];0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11169528	0.92[AFR][1000 genomes];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];0.94[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11615933	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12230242	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12231309	1.00[CEU][hapmap];0.85[CHB][hapmap];0.88[JPT][hapmap];0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12231317	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12580051	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[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];0.85[CHB][hapmap];0.88[JPT][hapmap];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12827022	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17124930	1.00[CEU][hapmap];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];0.82[ASN][1000 genomes]
rs4131769	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4238106	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4238107	0.80[ASN][1000 genomes]
rs4238108	1.00[CEU][hapmap];0.85[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];0.81[ASN][1000 genomes]
rs4768852	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4768853	1.00[CEU][hapmap];0.94[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];0.83[ASN][1000 genomes]
rs4768884	0.92[EUR][1000 genomes]
rs4768888	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4768889	0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4768890	0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4768892	0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4768893	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];0.99[ASN][1000 genomes]
rs4768903	0.80[CHB][hapmap];0.87[JPT][hapmap]
rs4768904	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4768906	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4768907	1.00[CEU][hapmap];0.94[YRI][hapmap];0.87[AFR][1000 genomes];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	0.92[AFR][1000 genomes];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];0.99[ASN][1000 genomes]
rs7138604	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7305375	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs7316864	0.86[CEU][hapmap]
rs7956591	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs876078	1.00[CEU][hapmap];0.83[CHB][hapmap];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs876079	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs876080	0.90[CEU][hapmap];0.84[EUR][1000 genomes]
rs952318	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9788159	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[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
rs7307419	DIP2B	cis	Thyroid	GTEx

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:50974000-51011800	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr12:50979200-51013800	Weak transcription	Fetal Stomach	stomach
3	chr12:50991600-51009600	Weak transcription	Rectal Smooth Muscle	rectum
4	chr12:50991600-51014000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr12:50992400-51007200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr12:50992400-51007400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr12:50992400-51007400	Weak transcription	Dnd41	blood
8	chr12:50992400-51009200	Weak transcription	Fetal Thymus	thymus
9	chr12:50992400-51009600	Weak transcription	Thymus	Thymus
10	chr12:50992400-51015200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr12:50992800-51007200	Weak transcription	Hela-S3	cervix
12	chr12:50993000-51013800	Weak transcription	Primary T cells fromperipheralblood	blood
13	chr12:50993000-51013800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr12:50993600-51007200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr12:50993600-51013400	Weak transcription	GM12878-XiMat	blood
16	chr12:50994400-51012400	Weak transcription	Primary T cells from cord blood	blood
17	chr12:50994600-51018600	Weak transcription	Primary neutrophils fromperipheralblood	blood
18	chr12:50997200-51007800	Weak transcription	Fetal Kidney	kidney
19	chr12:50997600-51013000	Weak transcription	Stomach Smooth Muscle	stomach
20	chr12:50997600-51014200	Weak transcription	Spleen	Spleen
21	chr12:50998000-51007400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr12:50998000-51007600	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr12:50998000-51012000	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr12:50998400-51007200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr12:50998400-51007800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr12:50998600-51008200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr12:50998600-51013000	Weak transcription	Gastric	stomach
28	chr12:51001000-51012000	Weak transcription	Fetal Intestine Large	intestine
29	chr12:51001400-51009400	Weak transcription	Primary T helper cells PMA-I stimulated	--
30	chr12:51001400-51012800	Weak transcription	Primary T helper cells fromperipheralblood	blood
31	chr12:51001600-51007800	Weak transcription	A549	lung
32	chr12:51002400-51008000	Weak transcription	Pancreas	Pancrea
33	chr12:51003600-51008200	Weak transcription	Small Intestine	intestine
34	chr12:51003600-51013200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
35	chr12:51003600-51015400	Enhancers	Brain Hippocampus Middle	brain
36	chr12:51004200-51007400	Weak transcription	HUVEC	blood vessel
37	chr12:51004400-51007200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr12:51004600-51009000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
39	chr12:51005000-51007400	Enhancers	Adipose Nuclei	Adipose
40	chr12:51005000-51010800	Enhancers	Brain Inferior Temporal Lobe	brain
41	chr12:51005000-51010800	Enhancers	Brain Substantia Nigra	brain
42	chr12:51005000-51013600	Weak transcription	Fetal Muscle Trunk	muscle
43	chr12:51005200-51007400	Enhancers	Stomach Mucosa	stomach
44	chr12:51005200-51008000	Weak transcription	Fetal Lung	lung
45	chr12:51005200-51008600	Enhancers	Left Ventricle	heart
46	chr12:51005400-51007600	Enhancers	Duodenum Mucosa	Duodenum
47	chr12:51005400-51008400	Enhancers	Right Atrium	heart
48	chr12:51005400-51008800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr12:51005600-51009800	Enhancers	Placenta	Placenta
50	chr12:51005600-51013200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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