Variant report

Variant	rs2187496
Chromosome Location	chr11:71651961-71651962
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:71637612..71641494-chr11:71650147..71652866,4	K562	blood:
2	chr11:71650756..71652380-chr11:71654533..71657023,3	K562	blood:
3	chr11:71638377..71641678-chr11:71642670..71653439,17	MCF-7	breast:

Variant related genes	Relation type
ENSG00000254469	Chromatin interaction
ENSG00000137522	Chromatin interaction

Extended variants
information (count: 164 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:160)

rs_ID	r²[population]
rs10128658	1.00[CEU][hapmap];0.93[JPT][hapmap];0.88[ASN][1000 genomes]
rs10501408	0.86[CEU][hapmap];0.92[JPT][hapmap]
rs1055452	0.86[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap]
rs1057992	0.86[CEU][hapmap];0.92[JPT][hapmap]
rs10736781	0.88[CEU][hapmap];0.86[JPT][hapmap];0.81[YRI][hapmap];0.97[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10736782	0.97[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10736783	0.82[CEU][hapmap];0.92[JPT][hapmap]
rs10751189	1.00[CEU][hapmap];0.93[JPT][hapmap];0.96[YRI][hapmap];0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10751190	1.00[ASN][1000 genomes]
rs10751191	0.86[CEU][hapmap];0.93[JPT][hapmap]
rs10793011	0.86[CEU][hapmap];0.93[JPT][hapmap]
rs10793016	1.00[CEU][hapmap];0.93[JPT][hapmap];0.83[ASN][1000 genomes]
rs10898814	0.88[ASN][1000 genomes]
rs10898817	0.83[ASN][1000 genomes]
rs11235440	1.00[CEU][hapmap];0.85[JPT][hapmap]
rs11235441	0.86[CEU][hapmap];0.86[JPT][hapmap]
rs12272213	1.00[CEU][hapmap];0.92[JPT][hapmap]
rs12293195	0.86[CEU][hapmap]
rs12293885	1.00[CEU][hapmap];0.93[JPT][hapmap]
rs1541304	0.86[CEU][hapmap];0.93[JPT][hapmap]
rs1541306	1.00[CEU][hapmap];0.93[JPT][hapmap];0.96[YRI][hapmap];0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs1548348	0.86[CEU][hapmap];0.92[JPT][hapmap]
rs1573500	0.83[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs1573501	0.86[CEU][hapmap];0.93[JPT][hapmap]
rs1573502	1.00[CEU][hapmap];0.93[JPT][hapmap];0.86[ASN][1000 genomes]
rs17161966	1.00[CEU][hapmap];0.93[JPT][hapmap]
rs17161980	1.00[CEU][hapmap];0.93[JPT][hapmap]
rs1892919	0.93[ASN][1000 genomes]
rs1892920	0.86[CEU][hapmap];0.93[JPT][hapmap]
rs1892921	1.00[CEU][hapmap];0.93[JPT][hapmap];0.96[ASN][1000 genomes]
rs1894003	0.86[ASN][1000 genomes]
rs1894004	0.86[CEU][hapmap];0.92[JPT][hapmap]
rs1939242	1.00[CEU][hapmap];0.93[JPT][hapmap];0.83[ASN][1000 genomes]
rs1939243	1.00[CEU][hapmap];0.93[JPT][hapmap];0.88[ASN][1000 genomes]
rs1939245	0.88[ASN][1000 genomes]
rs1939247	1.00[CEU][hapmap];0.93[JPT][hapmap];0.88[ASN][1000 genomes]
rs2155142	0.86[CEU][hapmap];0.92[JPT][hapmap]
rs2155145	0.93[JPT][hapmap]
rs2250866	1.00[CEU][hapmap];0.80[JPT][hapmap]
rs2276384	0.86[CEU][hapmap];0.92[JPT][hapmap]
rs2298456	1.00[CEU][hapmap];0.93[JPT][hapmap];0.90[ASN][1000 genomes]
rs2298457	1.00[CEU][hapmap];0.93[JPT][hapmap]
rs2363736	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2503	0.86[CEU][hapmap];0.92[JPT][hapmap]
rs2508856	0.86[CEU][hapmap];0.92[JPT][hapmap]
rs2511079	1.00[CEU][hapmap];0.93[JPT][hapmap]
rs2511114	1.00[CEU][hapmap];0.93[JPT][hapmap]
rs2845857	0.85[ASN][1000 genomes]
rs2885880	1.00[CHB][hapmap];0.93[JPT][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs3018301	1.00[CEU][hapmap];0.93[JPT][hapmap];0.92[YRI][hapmap]
rs3018302	1.00[CEU][hapmap];0.93[JPT][hapmap]
rs3018310	0.82[CEU][hapmap];0.92[JPT][hapmap]
rs3750908	1.00[CEU][hapmap];0.85[JPT][hapmap]
rs3793938	1.00[CEU][hapmap];0.85[JPT][hapmap]
rs3814721	1.00[CEU][hapmap];0.93[JPT][hapmap];0.84[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs3886589	1.00[ASN][1000 genomes]
rs4121395	1.00[CEU][hapmap];0.93[JPT][hapmap];1.00[ASN][1000 genomes]
rs4338555	1.00[CEU][hapmap];0.93[JPT][hapmap];0.83[ASN][1000 genomes]
rs4387373	0.86[CEU][hapmap];0.93[JPT][hapmap]
rs4477459	0.86[CEU][hapmap];0.93[JPT][hapmap]
rs4479013	1.00[ASN][1000 genomes]
rs4491255	0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs475959	0.83[AMR][1000 genomes]
rs493065	1.00[CEU][hapmap];0.93[JPT][hapmap]
rs4943821	1.00[CEU][hapmap];0.93[JPT][hapmap];0.92[YRI][hapmap]
rs4944232	1.00[CEU][hapmap];0.93[JPT][hapmap];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4944242	1.00[CEU][hapmap];0.93[JPT][hapmap];1.00[ASN][1000 genomes]
rs4944243	0.86[CEU][hapmap];0.93[JPT][hapmap]
rs4944258	0.88[ASN][1000 genomes]
rs4944259	0.84[ASN][1000 genomes]
rs4945340	0.86[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs4945353	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4945378	0.86[CEU][hapmap];0.93[JPT][hapmap]
rs4945392	0.86[CEU][hapmap];0.92[JPT][hapmap]
rs4945426	1.00[CEU][hapmap];0.93[JPT][hapmap];0.86[ASN][1000 genomes]
rs4945434	1.00[CEU][hapmap];0.93[JPT][hapmap];0.83[ASN][1000 genomes]
rs4945435	0.83[ASN][1000 genomes]
rs497761	0.86[CEU][hapmap]
rs510925	0.82[CEU][hapmap];0.93[JPT][hapmap]
rs519098	0.82[AMR][1000 genomes]
rs541022	1.00[CEU][hapmap];0.93[JPT][hapmap]
rs542097	0.86[CEU][hapmap]
rs550230	0.80[AMR][1000 genomes]
rs552966	1.00[CEU][hapmap];0.93[JPT][hapmap]
rs55972015	0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs560777	1.00[CEU][hapmap];0.93[JPT][hapmap]
rs56097487	0.86[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs567026	0.86[CEU][hapmap];0.92[JPT][hapmap]
rs575831	0.86[CEU][hapmap];0.92[JPT][hapmap]
rs575871	0.86[CEU][hapmap];0.92[JPT][hapmap]
rs577435	0.86[CEU][hapmap];0.92[JPT][hapmap]
rs579320	1.00[CEU][hapmap];0.93[JPT][hapmap]
rs585228	1.00[CEU][hapmap];0.93[JPT][hapmap]
rs595062	0.86[CEU][hapmap];0.93[JPT][hapmap]
rs596130	0.82[AMR][1000 genomes]
rs607446	1.00[CEU][hapmap];0.93[JPT][hapmap]
rs610004	1.00[CEU][hapmap];0.93[JPT][hapmap]
rs610041	1.00[CEU][hapmap];0.93[JPT][hapmap]
rs612255	0.86[CEU][hapmap];0.93[JPT][hapmap]
rs615000	0.88[CEU][hapmap];0.93[JPT][hapmap]
rs642573	1.00[CEU][hapmap];0.93[JPT][hapmap]
rs642618	1.00[CEU][hapmap];0.93[JPT][hapmap];0.90[YRI][hapmap]
rs6592447	0.86[CEU][hapmap];0.92[JPT][hapmap]
rs6592448	1.00[CEU][hapmap];0.93[JPT][hapmap];1.00[ASN][1000 genomes]
rs6592449	1.00[CEU][hapmap];0.93[JPT][hapmap];0.94[ASN][1000 genomes]
rs6592450	1.00[CEU][hapmap];0.93[JPT][hapmap];0.96[YRI][hapmap];0.97[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6592451	1.00[CEU][hapmap];0.93[JPT][hapmap];1.00[ASN][1000 genomes]
rs6592452	0.98[ASN][1000 genomes]
rs6592453	1.00[CEU][hapmap];0.93[JPT][hapmap];1.00[ASN][1000 genomes]
rs6592455	1.00[CEU][hapmap];0.93[JPT][hapmap];0.98[ASN][1000 genomes]
rs6592456	0.86[CEU][hapmap];0.93[JPT][hapmap]
rs6592457	0.86[CEU][hapmap];0.86[JPT][hapmap]
rs6592458	0.83[ASN][1000 genomes]
rs659513	1.00[CEU][hapmap];0.93[JPT][hapmap]
rs661290	0.86[CEU][hapmap];0.93[JPT][hapmap]
rs671681	1.00[CEU][hapmap];0.93[JPT][hapmap]
rs673478	1.00[CEU][hapmap];0.93[JPT][hapmap]
rs674735	1.00[CEU][hapmap]
rs679926	1.00[CEU][hapmap];0.93[JPT][hapmap]
rs680150	0.83[AMR][1000 genomes]
rs686340	0.86[CEU][hapmap];0.93[JPT][hapmap]
rs7102192	1.00[CEU][hapmap];0.80[JPT][hapmap];0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7103210	1.00[CEU][hapmap];0.93[JPT][hapmap];0.97[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7106730	0.85[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap]
rs7106748	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7111379	0.86[CEU][hapmap];0.86[JPT][hapmap]
rs7113436	0.86[CEU][hapmap];0.92[JPT][hapmap]
rs7113549	1.00[CEU][hapmap];0.93[JPT][hapmap];0.92[YRI][hapmap]
rs7115513	0.86[CEU][hapmap];0.93[JPT][hapmap]
rs7121080	0.86[CEU][hapmap];0.93[JPT][hapmap]
rs7121260	1.00[CEU][hapmap];0.93[JPT][hapmap];0.84[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs7123992	1.00[CEU][hapmap];0.93[JPT][hapmap]
rs7124000	0.83[ASN][1000 genomes]
rs7126394	0.86[CEU][hapmap];0.93[JPT][hapmap]
rs7127865	1.00[CEU][hapmap];0.93[JPT][hapmap];0.86[ASN][1000 genomes]
rs7128317	1.00[CEU][hapmap];0.93[JPT][hapmap];0.96[ASN][1000 genomes]
rs7128346	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7128974	1.00[CEU][hapmap];0.93[JPT][hapmap];1.00[ASN][1000 genomes]
rs73531952	0.98[ASN][1000 genomes]
rs7480015	0.86[ASN][1000 genomes]
rs7924516	1.00[ASN][1000 genomes]
rs7924834	0.86[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap]
rs7925411	0.85[CEU][hapmap];0.92[JPT][hapmap]
rs7925604	0.86[CEU][hapmap];0.93[JPT][hapmap]
rs7925901	0.90[ASN][1000 genomes]
rs7930142	0.92[JPT][hapmap];0.88[ASN][1000 genomes]
rs7930544	1.00[CEU][hapmap];0.93[JPT][hapmap];0.88[ASN][1000 genomes]
rs7930721	0.88[ASN][1000 genomes]
rs7930722	0.88[ASN][1000 genomes]
rs7931941	1.00[CEU][hapmap];0.93[JPT][hapmap];0.81[YRI][hapmap];0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7937515	0.81[CHB][hapmap];0.93[JPT][hapmap];0.96[YRI][hapmap]
rs7937582	0.88[ASN][1000 genomes]
rs7943227	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7948821	1.00[CEU][hapmap];0.93[JPT][hapmap];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7949480	0.94[ASN][1000 genomes]
rs7951194	0.95[ASN][1000 genomes]
rs947932	1.00[CEU][hapmap];0.93[JPT][hapmap];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs949323	0.86[CEU][hapmap];0.92[JPT][hapmap]
rs949325	0.90[ASN][1000 genomes]
rs949326	0.86[CEU][hapmap];0.85[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 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	esv2758276	chr11:71363639-71657576	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
3	esv2759836	chr11:71363639-71657576	Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
4	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:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2187496	NUMA1	Cis_1M	lymphoblastoid	RTeQTL
rs2187496	NUMA1	cis	uninvolved skin	skin_eQTL

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:71641000-71671000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr11:71641200-71670800	Weak transcription	Fetal Muscle Trunk	muscle
3	chr11:71641200-71671400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr11:71641400-71652000	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr11:71641400-71658000	Weak transcription	Lung	lung
6	chr11:71641400-71661600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr11:71641400-71670800	Weak transcription	Esophagus	oesophagus
8	chr11:71641400-71671000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr11:71641400-71671000	Weak transcription	Fetal Thymus	thymus
10	chr11:71641400-71671400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr11:71641600-71654400	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr11:71641600-71654800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr11:71641600-71656800	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr11:71641600-71658000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr11:71641600-71659600	Weak transcription	Fetal Kidney	kidney
16	chr11:71641600-71670800	Weak transcription	Spleen	Spleen
17	chr11:71641600-71671400	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr11:71641600-71671600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr11:71641600-71671600	Weak transcription	Brain Germinal Matrix	brain
20	chr11:71641600-71671600	Weak transcription	Brain Hippocampus Middle	brain
21	chr11:71641600-71673400	Weak transcription	NHLF	lung
22	chr11:71641800-71655800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr11:71641800-71671600	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr11:71642400-71671000	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr11:71642400-71671000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr11:71642600-71655600	Weak transcription	HMEC	breast
27	chr11:71642600-71671000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr11:71642600-71671200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
29	chr11:71642800-71654000	Weak transcription	Brain Angular Gyrus	brain
30	chr11:71642800-71655800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
31	chr11:71642800-71671200	Weak transcription	Dnd41	blood
32	chr11:71642800-71671400	Weak transcription	Fetal Brain Female	brain
33	chr11:71643400-71655400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr11:71644200-71655400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr11:71644200-71665600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
36	chr11:71645400-71659000	Weak transcription	Primary hematopoietic stem cells	blood
37	chr11:71645600-71658400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr11:71645600-71658400	Weak transcription	Duodenum Mucosa	Duodenum
39	chr11:71645600-71659600	Weak transcription	Gastric	stomach
40	chr11:71645600-71671200	Weak transcription	Primary T helper cells PMA-I stimulated	--
41	chr11:71645800-71660200	Weak transcription	Thymus	Thymus
42	chr11:71645800-71660800	Weak transcription	Primary neutrophils fromperipheralblood	blood
43	chr11:71645800-71671400	Weak transcription	Primary T helper cells fromperipheralblood	blood
44	chr11:71646000-71656600	Weak transcription	Fetal Intestine Small	intestine
45	chr11:71646000-71658400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr11:71646200-71655200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr11:71646600-71658000	Weak transcription	Fetal Intestine Large	intestine
48	chr11:71646600-71658000	Weak transcription	Sigmoid Colon	Sigmoid Colon
49	chr11:71646800-71654400	Weak transcription	HepG2	liver
50	chr11:71648200-71654200	Weak transcription	Muscle Satellite Cultured Cells	--

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