Variant report

Variant	rs2947617
Chromosome Location	chr12:51024801-51024802
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:51015875..51020257-chr12:51020735..51026058,6	MCF-7	breast:
2	chr12:51022477..51026896-chr12:51028497..51032139,4	MCF-7	breast:

Extended variants
information (count: 123 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:123)

rs_ID	r²[population]
rs10506293	0.85[EUR][1000 genomes]
rs10506296	0.85[CHB][hapmap];0.83[JPT][hapmap];0.86[EUR][1000 genomes]
rs10735826	0.82[ASN][1000 genomes]
rs10783366	0.91[CHB][hapmap];0.96[JPT][hapmap]
rs10783368	0.95[CHB][hapmap];0.95[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10876041	0.90[CHB][hapmap];0.95[JPT][hapmap];0.81[ASN][1000 genomes]
rs10876044	0.90[CHB][hapmap];0.95[JPT][hapmap];0.80[ASN][1000 genomes]
rs10876048	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10876054	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10876057	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10876082	0.90[EUR][1000 genomes]
rs10876083	0.90[EUR][1000 genomes]
rs10876085	0.82[EUR][1000 genomes]
rs10876088	0.90[EUR][1000 genomes]
rs10876091	0.82[EUR][1000 genomes]
rs11169422	0.85[EUR][1000 genomes]
rs11169553	0.90[EUR][1000 genomes]
rs11169556	0.82[EUR][1000 genomes]
rs11614911	0.81[ASN][1000 genomes]
rs12099511	0.85[EUR][1000 genomes]
rs12099615	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12296379	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12307602	0.85[EUR][1000 genomes]
rs12320201	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12817256	0.80[AMR][1000 genomes]
rs13328926	0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1402693	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1521515	0.85[CHB][hapmap];0.82[JPT][hapmap];0.96[YRI][hapmap];0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1521517	0.85[CHB][hapmap];0.91[JPT][hapmap];0.91[YRI][hapmap];0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17119774	0.85[EUR][1000 genomes]
rs17124672	0.85[EUR][1000 genomes]
rs17124888	0.86[EUR][1000 genomes]
rs17124907	0.86[CHB][hapmap];0.83[JPT][hapmap];0.86[EUR][1000 genomes]
rs1815010	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1996750	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2246840	0.86[CHB][hapmap];0.83[JPT][hapmap];0.88[YRI][hapmap];0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2252595	0.85[CHB][hapmap];0.91[JPT][hapmap];0.95[YRI][hapmap];0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2684886	0.83[YRI][hapmap];0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2684890	0.85[CHB][hapmap];0.82[JPT][hapmap];0.95[YRI][hapmap];0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2684891	0.85[CHB][hapmap];0.83[JPT][hapmap];0.95[YRI][hapmap];0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2684902	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2684906	0.86[CHB][hapmap];0.91[JPT][hapmap];0.96[YRI][hapmap];0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2700486	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs28414775	0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28479152	0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs3803181	0.85[CHB][hapmap];0.83[JPT][hapmap];0.86[EUR][1000 genomes]
rs3825401	0.85[CHB][hapmap];0.83[JPT][hapmap];0.86[EUR][1000 genomes]
rs4129355	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4143663	0.85[CHB][hapmap];0.83[JPT][hapmap];0.86[EUR][1000 genomes]
rs4257057	0.85[EUR][1000 genomes]
rs4306347	0.95[EUR][1000 genomes]
rs4450234	0.85[EUR][1000 genomes]
rs4517607	0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4562889	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4768885	0.81[ASN][1000 genomes]
rs4768886	0.81[ASN][1000 genomes]
rs4768887	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4768894	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4768909	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4768915	0.83[JPT][hapmap];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4768920	0.90[EUR][1000 genomes]
rs56671180	0.85[EUR][1000 genomes]
rs56753963	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs56818625	0.86[EUR][1000 genomes]
rs57283487	0.85[EUR][1000 genomes]
rs57293958	0.85[EUR][1000 genomes]
rs57328764	0.86[EUR][1000 genomes]
rs57512759	0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs57578212	0.85[EUR][1000 genomes]
rs57811009	0.85[EUR][1000 genomes]
rs57828015	0.85[EUR][1000 genomes]
rs58301497	0.86[EUR][1000 genomes]
rs58500867	0.85[EUR][1000 genomes]
rs58869591	0.81[EUR][1000 genomes]
rs58888905	0.85[EUR][1000 genomes]
rs58915267	0.81[EUR][1000 genomes]
rs58916974	0.85[EUR][1000 genomes]
rs58943330	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs59194948	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs59284993	0.86[EUR][1000 genomes]
rs59683461	0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs59696942	0.85[EUR][1000 genomes]
rs59968707	0.85[EUR][1000 genomes]
rs60010359	0.85[EUR][1000 genomes]
rs60198651	0.85[EUR][1000 genomes]
rs60201334	0.85[EUR][1000 genomes]
rs60239257	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs60242613	0.85[EUR][1000 genomes]
rs60396677	0.85[EUR][1000 genomes]
rs60420087	0.85[EUR][1000 genomes]
rs60494920	0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs60743903	0.85[EUR][1000 genomes]
rs60908906	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs61578731	0.85[EUR][1000 genomes]
rs6580766	0.90[EUR][1000 genomes]
rs6580767	0.90[EUR][1000 genomes]
rs6580768	0.90[EUR][1000 genomes]
rs6580770	0.81[EUR][1000 genomes]
rs7131993	0.95[CHB][hapmap];0.95[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7132443	0.86[EUR][1000 genomes]
rs7135222	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7301125	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7302749	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7303202	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7304262	0.85[EUR][1000 genomes]
rs7304793	0.81[EUR][1000 genomes]
rs7306387	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7310507	0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7487645	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7953880	0.95[CHB][hapmap];0.95[JPT][hapmap];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7955176	0.85[EUR][1000 genomes]
rs7955310	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7974480	0.85[EUR][1000 genomes]
rs7978443	0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7979184	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7979474	0.90[EUR][1000 genomes]
rs829125	0.81[EUR][1000 genomes]
rs865490	0.86[EUR][1000 genomes]
rs939631	0.85[CHB][hapmap];0.82[JPT][hapmap];0.95[YRI][hapmap];0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs951591	0.86[CHB][hapmap];0.91[JPT][hapmap];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9634264	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9738596	0.83[ASN][1000 genomes]
rs9804759	0.91[EUR][1000 genomes]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2947617	DIP2B	cis	multi-tissue	Pritchard

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:51013400-51055200	Weak transcription	Aorta	Aorta
2	chr12:51014400-51030400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr12:51014600-51041000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr12:51015000-51027600	Weak transcription	NHDF-Ad	bronchial
5	chr12:51015600-51075800	Weak transcription	Colonic Mucosa	Colon
6	chr12:51016000-51027600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr12:51016000-51028200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr12:51016000-51030400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr12:51016000-51030600	Weak transcription	Psoas Muscle	Psoas
10	chr12:51016000-51065000	Weak transcription	Esophagus	oesophagus
11	chr12:51016200-51030400	Weak transcription	Brain Germinal Matrix	brain
12	chr12:51016200-51035400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr12:51016600-51039400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr12:51017000-51027600	Weak transcription	NHEK	skin
15	chr12:51017800-51042800	Weak transcription	Rectal Smooth Muscle	rectum
16	chr12:51018800-51027800	Weak transcription	Left Ventricle	heart
17	chr12:51019400-51028200	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr12:51019600-51025400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr12:51019600-51030000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
20	chr12:51019600-51031000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr12:51019600-51031200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
22	chr12:51019600-51046400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr12:51019800-51030400	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr12:51019800-51031400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
25	chr12:51020000-51026200	Strong transcription	Fetal Thymus	thymus
26	chr12:51020000-51028000	Weak transcription	Fetal Heart	heart
27	chr12:51020000-51031400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
28	chr12:51020200-51025000	Strong transcription	Primary T helper cells PMA-I stimulated	--
29	chr12:51020200-51026200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr12:51020200-51028200	Weak transcription	Colon Smooth Muscle	Colon
31	chr12:51020200-51030400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr12:51020400-51025000	Weak transcription	Fetal Brain Male	brain
33	chr12:51020400-51025400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
34	chr12:51020400-51026400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr12:51020400-51026600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr12:51020400-51026800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
37	chr12:51020400-51027600	Weak transcription	Osteobl	bone
38	chr12:51020400-51028200	Weak transcription	Small Intestine	intestine
39	chr12:51020600-51026000	Strong transcription	Primary B cells from peripheral blood	blood
40	chr12:51020800-51026200	Strong transcription	Fetal Stomach	stomach
41	chr12:51020800-51027600	Weak transcription	Muscle Satellite Cultured Cells	--
42	chr12:51020800-51028200	Weak transcription	Stomach Mucosa	stomach
43	chr12:51021000-51025800	Strong transcription	Primary neutrophils fromperipheralblood	blood
44	chr12:51021000-51026000	Strong transcription	Fetal Intestine Large	intestine
45	chr12:51021000-51030600	Weak transcription	HUVEC	blood vessel
46	chr12:51021000-51039800	Weak transcription	NHLF	lung
47	chr12:51021400-51028000	Weak transcription	Gastric	stomach
48	chr12:51021600-51029200	Weak transcription	Rectal Mucosa Donor 31	rectum
49	chr12:51021600-51031000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr12:51021600-51031400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--

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