Variant report

Variant	rs11169544
Chromosome Location	chr12:51144749-51144750
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:51144572..51146832-chr12:51148716..51151527,2	K562	blood:
2	chr12:51144406..51146015-chr12:51154196..51156059,2	K562	blood:
3	chr12:51143226..51146888-chr12:51156078..51159984,4	K562	blood:
4	chr12:51138457..51146051-chr12:51156159..51159814,11	MCF-7	breast:
5	chr12:51139062..51150273-chr12:51151292..51159466,16	MCF-7	breast:

Variant related genes	Relation type
ENSG00000123268	Chromatin interaction
ENSG00000271018	Chromatin interaction

Extended variants
information (count: 72 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:72)

rs_ID	r²[population]
rs10459234	0.84[ASN][1000 genomes]
rs10459235	0.94[ASN][1000 genomes]
rs10506294	0.84[ASW][hapmap];0.81[CHB][hapmap];0.98[GIH][hapmap];0.86[LWK][hapmap];0.88[MKK][hapmap];0.80[AMR][1000 genomes]
rs10506295	0.81[CHB][hapmap]
rs10747587	0.84[ASW][hapmap];0.81[CHB][hapmap];0.82[CHD][hapmap];1.00[GIH][hapmap];0.86[LWK][hapmap];0.92[MKK][hapmap];0.82[AMR][1000 genomes]
rs10783373	0.98[GIH][hapmap];0.86[MKK][hapmap]
rs10783382	0.90[CHB][hapmap];0.87[JPT][hapmap];0.83[ASN][1000 genomes]
rs10783383	0.81[AMR][1000 genomes]
rs10783384	0.84[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs10783389	0.94[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10876065	0.93[GIH][hapmap];0.90[MKK][hapmap]
rs10876070	1.00[GIH][hapmap]
rs10876076	0.81[CHB][hapmap]
rs10876080	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10876081	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10876089	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10876090	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10876094	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10876095	0.94[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10876096	1.00[ASW][hapmap];0.94[CEU][hapmap];0.95[CHB][hapmap];0.91[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.96[TSI][hapmap];1.00[YRI][hapmap];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10876097	1.00[ASW][hapmap];0.94[CEU][hapmap];0.95[CHB][hapmap];0.93[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.96[MKK][hapmap];0.96[TSI][hapmap];1.00[YRI][hapmap];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11169493	0.98[GIH][hapmap]
rs11169507	1.00[GIH][hapmap]
rs11169515	0.81[CHB][hapmap]
rs11169528	0.81[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs11169532	0.91[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs11169537	0.87[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs11169538	1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs11169539	0.87[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs11169552	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11169554	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11169560	0.94[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11169561	1.00[ASW][hapmap];0.94[CEU][hapmap];0.95[CHB][hapmap];0.93[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11613488	0.98[GIH][hapmap]
rs11615933	0.93[ASN][1000 genomes]
rs12231309	0.81[CHB][hapmap]
rs12424860	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12580479	0.88[ASN][1000 genomes]
rs12809086	0.81[CHB][hapmap];0.80[AMR][1000 genomes]
rs1344958	1.00[ASW][hapmap];0.94[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17124930	0.80[CHB][hapmap];0.81[AMR][1000 genomes]
rs35845404	0.87[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs3742063	0.88[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs3742064	0.91[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs3809319	1.00[ASW][hapmap];0.94[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3825402	0.95[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs4026593	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4131769	0.84[ASW][hapmap];0.98[GIH][hapmap];0.92[MKK][hapmap]
rs4238108	0.81[CHB][hapmap];0.80[AMR][1000 genomes]
rs4307773	0.90[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs4768853	0.95[GIH][hapmap]
rs4768866	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4768893	0.84[ASW][hapmap]
rs4768903	0.82[CHD][hapmap]
rs4768906	0.81[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs4768907	0.91[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs4768911	0.87[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs4768912	0.87[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs4768913	0.88[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs4768914	0.86[CHB][hapmap];0.98[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs4768917	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4768921	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4768922	1.00[ASW][hapmap];0.94[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4768923	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4768924	1.00[ASW][hapmap];0.80[CEU][hapmap];0.91[CHB][hapmap];0.86[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];0.96[MKK][hapmap];0.92[TSI][hapmap];1.00[YRI][hapmap];0.84[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs4768925	1.00[ASW][hapmap];0.93[CEU][hapmap];0.91[CHB][hapmap];0.86[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];0.92[MKK][hapmap];0.92[TSI][hapmap];1.00[YRI][hapmap];0.85[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs4768940	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs73094900	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73096846	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs864899	0.81[CHB][hapmap]
rs876078	0.84[ASW][hapmap];1.00[GIH][hapmap];0.92[MKK][hapmap]
rs952318	1.00[GIH][hapmap]

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11169544	DIP2B	cis	Thyroid	GTEx
rs11169544	LASS5	cis	cerebellum	SCAN

Chromatin state (count:108 , 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	chr12:51080200-51145400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr12:51090400-51145400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr12:51101000-51144800	Strong transcription	Fetal Stomach	stomach
5	chr12:51110600-51144800	Strong transcription	Rectal Mucosa Donor 31	rectum
6	chr12:51112000-51144800	Strong transcription	Primary T cells from cord blood	blood
7	chr12:51112200-51144800	Strong transcription	Rectal Mucosa Donor 29	rectum
8	chr12:51114200-51144800	Strong transcription	Cortex derived primary cultured neurospheres	brain
9	chr12:51116800-51144800	Strong transcription	Primary B cells from cord blood	blood
10	chr12:51120800-51145400	Strong transcription	Fetal Thymus	thymus
11	chr12:51121400-51145400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr12:51126600-51145400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr12:51126600-51146600	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr12:51130000-51145400	Strong transcription	Stomach Smooth Muscle	stomach
15	chr12:51132800-51145400	Strong transcription	Primary hematopoietic stem cells	blood
16	chr12:51135800-51145200	Weak transcription	Fetal Heart	heart
17	chr12:51135800-51146000	Weak transcription	NHDF-Ad	bronchial
18	chr12:51135800-51156200	Weak transcription	Fetal Kidney	kidney
19	chr12:51138800-51146000	Weak transcription	NHLF	lung
20	chr12:51139000-51145400	Weak transcription	Small Intestine	intestine
21	chr12:51139000-51146600	Weak transcription	Colonic Mucosa	Colon
22	chr12:51139000-51147200	Weak transcription	Gastric	stomach
23	chr12:51139000-51156000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr12:51139200-51148600	Weak transcription	Colon Smooth Muscle	Colon
25	chr12:51139600-51146400	Weak transcription	Hela-S3	cervix
26	chr12:51139600-51156000	Weak transcription	A549	lung
27	chr12:51139800-51147000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr12:51140400-51145000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr12:51140400-51147400	Weak transcription	Esophagus	oesophagus
30	chr12:51140400-51156200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr12:51140600-51147200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr12:51141400-51147000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr12:51141600-51147000	Weak transcription	Fetal Brain Male	brain
34	chr12:51141600-51149200	Weak transcription	HUES64 Cell Line	embryonic stem cell
35	chr12:51141800-51145400	Weak transcription	Skeletal Muscle Female	skeletal muscle
36	chr12:51141800-51154400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr12:51141800-51156600	Weak transcription	Fetal Brain Female	brain
38	chr12:51141800-51156800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
39	chr12:51142000-51145600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr12:51142000-51145800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr12:51142000-51146000	Weak transcription	Right Ventricle	heart
42	chr12:51142000-51146600	Weak transcription	Aorta	Aorta
43	chr12:51142000-51147000	Weak transcription	Dnd41	blood
44	chr12:51142000-51147200	Weak transcription	HUES6 Cell Line	embryonic stem cell
45	chr12:51142000-51147400	Weak transcription	Ovary	ovary
46	chr12:51142000-51156200	Weak transcription	HMEC	breast
47	chr12:51142000-51156200	Weak transcription	Osteobl	bone
48	chr12:51142000-51156800	Weak transcription	Pancreas	Pancrea
49	chr12:51142200-51145800	Weak transcription	HSMMtube	muscle
50	chr12:51142200-51146000	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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