Variant report

Variant	rs7925411
Chromosome Location	chr11:71678386-71678387
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:71676803..71679636-chr11:71686579..71688460,2	K562	blood:

Extended variants
information (count: 109 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:107)

rs_ID	r²[population]
rs10128658	0.91[GIH][hapmap];0.86[MEX][hapmap];0.82[YRI][hapmap]
rs10450664	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.84[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs10501408	0.89[ASW][hapmap];0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]
rs1055452	0.85[CEU][hapmap];0.92[JPT][hapmap];0.93[YRI][hapmap]
rs1057992	0.85[CEU][hapmap];0.92[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];1.00[TSI][hapmap]
rs10736781	0.91[GIH][hapmap]
rs10736783	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs10751189	0.91[GIH][hapmap]
rs10751191	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs10793011	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10793016	0.91[GIH][hapmap];0.87[MEX][hapmap]
rs11235440	0.91[GIH][hapmap];0.80[MEX][hapmap]
rs11235441	0.85[CEU][hapmap];0.82[CHB][hapmap];0.92[JPT][hapmap];0.93[YRI][hapmap]
rs12272213	0.84[JPT][hapmap]
rs12275171	0.84[CHB][hapmap];0.87[JPT][hapmap];0.90[YRI][hapmap]
rs12293195	0.85[CEU][hapmap];0.93[YRI][hapmap]
rs12293885	0.81[YRI][hapmap]
rs1541304	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1541306	0.91[GIH][hapmap]
rs1548348	0.85[CEU][hapmap];0.92[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.82[MKK][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap]
rs1573501	0.85[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap]
rs1573502	0.91[GIH][hapmap];0.87[MEX][hapmap]
rs17161966	0.91[GIH][hapmap];0.80[MEX][hapmap]
rs17161980	0.91[GIH][hapmap];0.80[MEX][hapmap]
rs1892920	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs1892921	0.82[YRI][hapmap]
rs1894004	0.85[CEU][hapmap];0.92[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];0.82[MKK][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap]
rs1939242	0.91[GIH][hapmap];0.87[MEX][hapmap]
rs1939243	0.91[GIH][hapmap];0.87[MEX][hapmap]
rs1939247	0.82[YRI][hapmap]
rs2155142	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs2155145	0.92[CHB][hapmap];1.00[JPT][hapmap]
rs2187496	0.85[CEU][hapmap];0.92[JPT][hapmap]
rs2250866	0.91[GIH][hapmap]
rs2276384	0.89[ASW][hapmap];0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];1.00[MEX][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]
rs2298456	0.91[GIH][hapmap];0.87[MEX][hapmap]
rs2298457	0.91[GIH][hapmap];0.87[MEX][hapmap];0.82[YRI][hapmap]
rs2503	0.85[CEU][hapmap];0.92[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];1.00[TSI][hapmap]
rs2508856	0.85[CEU][hapmap];0.92[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap]
rs2511079	0.81[GIH][hapmap];0.80[MEX][hapmap]
rs2511114	0.91[GIH][hapmap];0.80[MEX][hapmap]
rs2885880	0.83[JPT][hapmap]
rs3018301	0.91[GIH][hapmap]
rs3018302	0.91[GIH][hapmap];0.80[MEX][hapmap]
rs3018310	0.81[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap]
rs3750908	0.91[GIH][hapmap];0.80[MEX][hapmap]
rs3793938	0.91[GIH][hapmap];0.80[MEX][hapmap]
rs3814721	0.91[GIH][hapmap]
rs3829215	1.00[CHB][hapmap];0.92[CHD][hapmap];0.91[GIH][hapmap]
rs4121395	0.91[GIH][hapmap];0.86[MEX][hapmap];0.82[YRI][hapmap]
rs4338555	0.91[GIH][hapmap];0.87[MEX][hapmap]
rs4387373	0.85[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap]
rs4477459	0.84[CHB][hapmap];1.00[JPT][hapmap]
rs4943821	0.91[GIH][hapmap]
rs4944232	0.91[GIH][hapmap];0.87[MEX][hapmap];0.88[YRI][hapmap]
rs4944242	0.91[GIH][hapmap];0.87[MEX][hapmap];0.82[YRI][hapmap]
rs4944243	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs4945378	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs4945392	1.00[ASW][hapmap];0.85[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];1.00[MEX][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]
rs4945426	0.91[GIH][hapmap];0.87[MEX][hapmap]
rs4945434	0.91[GIH][hapmap];0.87[MEX][hapmap]
rs497761	0.85[CEU][hapmap];0.82[CHB][hapmap];0.84[JPT][hapmap]
rs510925	0.82[CEU][hapmap];0.92[JPT][hapmap];1.00[TSI][hapmap]
rs541022	0.95[GIH][hapmap]
rs542097	0.85[CEU][hapmap];1.00[CHB][hapmap];0.84[JPT][hapmap]
rs560777	0.91[GIH][hapmap];0.87[MEX][hapmap]
rs567026	0.85[CEU][hapmap];0.92[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];0.82[MKK][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap]
rs575831	0.85[CEU][hapmap];0.92[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap]
rs575871	0.85[CEU][hapmap];0.84[CHB][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap]
rs577435	0.85[CEU][hapmap];0.92[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap]
rs595062	0.85[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap]
rs612255	0.85[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap]
rs6592447	0.89[ASW][hapmap];0.85[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];1.00[MEX][hapmap];0.88[MKK][hapmap];1.00[YRI][hapmap]
rs6592448	0.91[GIH][hapmap];0.87[MEX][hapmap];0.82[YRI][hapmap]
rs6592449	0.82[YRI][hapmap]
rs6592450	0.87[GIH][hapmap]
rs6592451	0.85[CEU][hapmap];0.91[GIH][hapmap];0.87[MEX][hapmap];0.82[YRI][hapmap]
rs6592453	0.91[GIH][hapmap];0.87[MEX][hapmap];0.82[YRI][hapmap]
rs6592455	0.91[GIH][hapmap];0.86[MEX][hapmap];0.82[YRI][hapmap]
rs6592456	0.85[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap]
rs6592457	0.85[CEU][hapmap];0.92[CHB][hapmap];0.92[JPT][hapmap]
rs659513	0.91[GIH][hapmap];0.80[MEX][hapmap]
rs661290	0.85[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap]
rs673478	0.91[GIH][hapmap];0.80[MEX][hapmap]
rs679926	0.91[GIH][hapmap];0.87[MEX][hapmap]
rs686340	0.85[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap]
rs7102192	0.91[GIH][hapmap];0.81[MEX][hapmap]
rs7106730	0.82[CEU][hapmap];0.92[JPT][hapmap]
rs7111379	0.85[CEU][hapmap];0.92[CHB][hapmap];0.92[JPT][hapmap];0.93[YRI][hapmap]
rs7113436	1.00[ASW][hapmap];0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];1.00[MEX][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]
rs7113549	0.91[GIH][hapmap]
rs7115513	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs7121080	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs7121260	0.82[GIH][hapmap]
rs7126394	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs7128317	0.91[GIH][hapmap];0.81[MEX][hapmap];0.82[YRI][hapmap]
rs7128974	0.91[GIH][hapmap];0.87[MEX][hapmap];0.82[YRI][hapmap]
rs7924834	0.89[ASW][hapmap];0.85[CEU][hapmap];0.83[CHB][hapmap];1.00[GIH][hapmap];0.92[JPT][hapmap];1.00[MEX][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]
rs7925604	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs7930142	0.92[YRI][hapmap]
rs7930544	0.82[YRI][hapmap]
rs7931941	0.91[GIH][hapmap]
rs7937515	0.85[JPT][hapmap]
rs7948821	0.91[GIH][hapmap];0.87[MEX][hapmap];0.82[YRI][hapmap]
rs947932	0.82[YRI][hapmap]
rs949323	0.85[CEU][hapmap];0.84[CHB][hapmap];0.93[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.81[YRI][hapmap]
rs949326	0.85[CEU][hapmap];0.84[CHB][hapmap];0.89[CHD][hapmap];1.00[GIH][hapmap];0.92[JPT][hapmap];0.93[MEX][hapmap];1.00[TSI][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530623	chr11:71088949-72020418	Enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	134 gene(s)	inside rSNPs	diseases
2	nsv428262	chr11:71363639-71804055	Enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	55 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7925411	NUMA1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:71660400-71701200	Weak transcription	Gastric	stomach
2	chr11:71660800-71709400	Weak transcription	Stomach Mucosa	stomach
3	chr11:71661000-71709600	Weak transcription	Small Intestine	intestine
4	chr11:71661400-71687600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr11:71663000-71689400	Weak transcription	Brain Cingulate Gyrus	brain
6	chr11:71663000-71698000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr11:71665800-71683400	Weak transcription	Psoas Muscle	Psoas
8	chr11:71666000-71694200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr11:71668800-71699000	Weak transcription	Right Ventricle	heart
10	chr11:71669800-71694400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr11:71670200-71686800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr11:71670600-71701000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr11:71672200-71679200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr11:71672200-71688600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr11:71672200-71698800	Weak transcription	NHEK	skin
16	chr11:71672200-71701000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr11:71672200-71715200	Weak transcription	Fetal Brain Male	brain
18	chr11:71672400-71682800	Weak transcription	HSMMtube	muscle
19	chr11:71672400-71701000	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr11:71672400-71709400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
21	chr11:71672600-71680800	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr11:71672600-71689400	Weak transcription	Brain Substantia Nigra	brain
23	chr11:71672600-71694400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr11:71672600-71694400	Weak transcription	Aorta	Aorta
25	chr11:71672600-71694600	Weak transcription	Esophagus	oesophagus
26	chr11:71672600-71698400	Weak transcription	Spleen	Spleen
27	chr11:71672600-71709200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
28	chr11:71672800-71694600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr11:71673000-71679200	Weak transcription	Stomach Smooth Muscle	stomach
30	chr11:71673000-71680800	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr11:71673000-71683600	Weak transcription	Thymus	Thymus
32	chr11:71673000-71685800	Weak transcription	Brain Hippocampus Middle	brain
33	chr11:71673000-71685800	Weak transcription	Left Ventricle	heart
34	chr11:71673000-71697000	Weak transcription	Pancreatic Islets	Pancreatic Islet
35	chr11:71673000-71698800	Weak transcription	Ovary	ovary
36	chr11:71673000-71701200	Weak transcription	Pancreas	Pancrea
37	chr11:71673200-71680600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
38	chr11:71673200-71694800	Weak transcription	Skeletal Muscle Male	skeletal muscle
39	chr11:71673600-71679200	Weak transcription	Skeletal Muscle Female	skeletal muscle
40	chr11:71673600-71680600	Weak transcription	Cortex derived primary cultured neurospheres	brain
41	chr11:71673600-71680600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr11:71673600-71694400	Weak transcription	Duodenum Smooth Muscle	Duodenum
43	chr11:71673600-71698800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr11:71673600-71710800	Weak transcription	Placenta Amnion	Placenta Amnion
45	chr11:71673800-71678600	Weak transcription	H1 Cell Line	embryonic stem cell
46	chr11:71673800-71678600	Weak transcription	Rectal Mucosa Donor 29	rectum
47	chr11:71673800-71678800	Weak transcription	Duodenum Mucosa	Duodenum
48	chr11:71673800-71679000	Weak transcription	Fetal Thymus	thymus
49	chr11:71673800-71679200	Weak transcription	Primary T helper cells PMA-I stimulated	--
50	chr11:71673800-71679200	Weak transcription	Adipose Nuclei	Adipose

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