Variant report

Variant	rs7106730
Chromosome Location	chr11:71649352-71649353
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	chr11:71638377..71641678-chr11:71642670..71653439,17	MCF-7	breast:

Variant related genes	Relation type
ENSG00000137522	Chromatin interaction
ENSG00000254469	Chromatin interaction

Extended variants
information (count: 186 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:182)

rs_ID	r²[population]
rs10128658	0.85[CEU][hapmap];0.86[JPT][hapmap]
rs10450664	0.85[CEU][hapmap];0.84[YRI][hapmap];1.00[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs10501408	1.00[CEU][hapmap];0.92[JPT][hapmap];0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1055452	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1057992	1.00[CEU][hapmap];0.92[JPT][hapmap];0.91[YRI][hapmap];0.96[ASN][1000 genomes]
rs10736780	0.98[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10736781	0.81[JPT][hapmap]
rs10736783	1.00[CEU][hapmap];0.90[CHB][hapmap];0.92[JPT][hapmap];0.98[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10751188	0.98[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10751189	0.85[CEU][hapmap];0.86[JPT][hapmap]
rs10751191	1.00[CEU][hapmap];0.80[CHB][hapmap];0.93[JPT][hapmap];0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10751192	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10793011	1.00[CEU][hapmap];0.80[CHB][hapmap];0.93[JPT][hapmap];0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10793013	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10793014	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10793015	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10793016	0.85[CEU][hapmap];0.86[JPT][hapmap]
rs10898812	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11235440	0.85[CEU][hapmap]
rs11235441	1.00[CEU][hapmap];0.86[JPT][hapmap];0.81[ASN][1000 genomes]
rs11235444	0.81[ASN][1000 genomes]
rs12272086	0.86[ASN][1000 genomes]
rs12272213	0.85[CEU][hapmap];0.85[JPT][hapmap]
rs12275171	1.00[CEU][hapmap];0.81[ASN][1000 genomes]
rs12293195	1.00[CEU][hapmap]
rs12293885	0.85[CEU][hapmap];0.88[JPT][hapmap]
rs1541304	1.00[CEU][hapmap];0.80[CHB][hapmap];0.93[JPT][hapmap];0.91[YRI][hapmap];0.81[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs1541306	0.85[CEU][hapmap];0.86[JPT][hapmap]
rs1548348	1.00[CEU][hapmap];0.92[JPT][hapmap];0.93[ASN][1000 genomes]
rs1573501	1.00[CEU][hapmap];0.93[JPT][hapmap];0.91[YRI][hapmap];0.96[ASN][1000 genomes]
rs1573502	0.85[CEU][hapmap];0.86[JPT][hapmap]
rs1573503	0.83[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs17161751	1.00[ASN][1000 genomes]
rs17161966	0.85[CEU][hapmap];0.86[JPT][hapmap]
rs17161980	0.85[CEU][hapmap];0.86[JPT][hapmap]
rs1791456	0.88[ASN][1000 genomes]
rs1892920	1.00[CEU][hapmap];0.80[CHB][hapmap];0.93[JPT][hapmap];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1892921	0.85[CEU][hapmap];0.88[JPT][hapmap]
rs1894004	1.00[CEU][hapmap];0.92[JPT][hapmap];0.91[ASN][1000 genomes]
rs1939242	0.85[CEU][hapmap];0.86[JPT][hapmap]
rs1939243	0.85[CEU][hapmap];0.86[JPT][hapmap]
rs1939247	0.85[CEU][hapmap];0.87[JPT][hapmap]
rs2155142	1.00[CEU][hapmap];0.92[JPT][hapmap];0.91[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2155145	0.85[CEU][hapmap];0.93[JPT][hapmap];0.91[YRI][hapmap];0.96[ASN][1000 genomes]
rs2155146	0.96[ASN][1000 genomes]
rs2187496	0.85[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap]
rs2250866	0.85[CEU][hapmap]
rs2276384	1.00[CEU][hapmap];0.92[JPT][hapmap];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2276396	0.81[ASN][1000 genomes]
rs2298456	0.85[CEU][hapmap];0.86[JPT][hapmap]
rs2298457	0.85[CEU][hapmap];0.86[JPT][hapmap]
rs2503	1.00[CEU][hapmap];0.92[JPT][hapmap];0.91[YRI][hapmap];0.96[ASN][1000 genomes]
rs2508856	1.00[CEU][hapmap];0.92[JPT][hapmap];0.85[ASN][1000 genomes]
rs2508860	0.81[ASN][1000 genomes]
rs2511079	0.85[CEU][hapmap];0.86[JPT][hapmap]
rs2511114	0.85[CEU][hapmap];0.86[JPT][hapmap]
rs2511120	0.82[ASN][1000 genomes]
rs2735787	0.96[ASN][1000 genomes]
rs2845860	0.92[ASN][1000 genomes]
rs2852365	0.83[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs2885661	0.82[ASN][1000 genomes]
rs2885880	0.85[CHB][hapmap];0.93[JPT][hapmap]
rs3018301	0.85[CEU][hapmap];0.86[JPT][hapmap]
rs3018302	0.85[CEU][hapmap];0.86[JPT][hapmap]
rs3018310	1.00[CEU][hapmap];0.92[JPT][hapmap];0.88[ASN][1000 genomes]
rs3750907	0.81[ASN][1000 genomes]
rs3750908	0.85[CEU][hapmap]
rs3793938	0.85[CEU][hapmap]
rs3814721	0.85[CEU][hapmap];0.86[JPT][hapmap]
rs3829215	0.91[YRI][hapmap];0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4121395	0.85[CEU][hapmap];0.86[JPT][hapmap]
rs4245463	0.96[ASN][1000 genomes]
rs4269951	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4338555	0.85[CEU][hapmap];0.86[JPT][hapmap]
rs4378421	0.88[ASN][1000 genomes]
rs4387373	1.00[CEU][hapmap];0.93[JPT][hapmap];0.85[ASN][1000 genomes]
rs4399349	0.92[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs4412771	0.86[ASN][1000 genomes]
rs4477459	0.85[CEU][hapmap];0.93[JPT][hapmap];0.96[ASN][1000 genomes]
rs482197	0.85[ASN][1000 genomes]
rs488829	0.88[ASN][1000 genomes]
rs492135	0.90[ASN][1000 genomes]
rs493065	0.85[CEU][hapmap];0.87[JPT][hapmap]
rs4943821	0.85[CEU][hapmap];0.86[JPT][hapmap]
rs4944232	0.85[CEU][hapmap];0.86[JPT][hapmap]
rs4944242	0.85[CEU][hapmap];0.86[JPT][hapmap]
rs4944243	1.00[CEU][hapmap];0.80[CHB][hapmap];0.93[JPT][hapmap];0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4945378	1.00[CEU][hapmap];0.80[CHB][hapmap];0.93[JPT][hapmap];0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4945382	0.93[ASN][1000 genomes]
rs4945391	0.89[ASN][1000 genomes]
rs4945392	1.00[CEU][hapmap];0.92[JPT][hapmap];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4945426	0.85[CEU][hapmap];0.86[JPT][hapmap]
rs4945434	0.85[CEU][hapmap];0.86[JPT][hapmap]
rs497761	1.00[CEU][hapmap]
rs498770	0.82[ASN][1000 genomes]
rs510925	1.00[CEU][hapmap];0.93[JPT][hapmap]
rs518959	0.91[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs538569	0.87[ASN][1000 genomes]
rs541022	0.85[CEU][hapmap];0.86[JPT][hapmap]
rs542097	1.00[CEU][hapmap];0.80[CHB][hapmap];0.85[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs552966	0.85[CEU][hapmap];0.88[JPT][hapmap]
rs560777	0.85[CEU][hapmap];0.86[JPT][hapmap]
rs56255748	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs564294	0.88[ASN][1000 genomes]
rs567026	1.00[CEU][hapmap];0.92[JPT][hapmap];0.88[ASN][1000 genomes]
rs567851	0.88[ASN][1000 genomes]
rs575831	1.00[CEU][hapmap];0.92[JPT][hapmap];0.82[ASN][1000 genomes]
rs575871	1.00[CEU][hapmap];0.92[JPT][hapmap]
rs577435	1.00[CEU][hapmap];0.92[JPT][hapmap];0.82[ASN][1000 genomes]
rs579320	0.85[CEU][hapmap];0.88[JPT][hapmap]
rs58417942	0.81[ASN][1000 genomes]
rs585228	0.85[CEU][hapmap];0.87[JPT][hapmap]
rs592051	0.81[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs595062	1.00[CEU][hapmap];0.93[JPT][hapmap];0.86[ASN][1000 genomes]
rs60054591	0.81[ASN][1000 genomes]
rs607446	0.85[CEU][hapmap];0.88[JPT][hapmap]
rs610004	0.85[CEU][hapmap];0.88[JPT][hapmap]
rs610041	0.85[CEU][hapmap];0.88[JPT][hapmap]
rs612255	1.00[CEU][hapmap];0.93[JPT][hapmap];0.83[ASN][1000 genomes]
rs615000	0.88[JPT][hapmap]
rs620945	0.81[ASN][1000 genomes]
rs628025	0.82[ASN][1000 genomes]
rs642573	0.85[CEU][hapmap];0.87[JPT][hapmap]
rs642618	0.85[CEU][hapmap];0.87[JPT][hapmap]
rs645603	0.88[ASN][1000 genomes]
rs6592447	1.00[CEU][hapmap];0.92[JPT][hapmap];0.98[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6592448	0.85[CEU][hapmap];0.86[JPT][hapmap]
rs6592449	0.85[CEU][hapmap];0.87[JPT][hapmap]
rs6592450	0.85[CEU][hapmap];0.86[JPT][hapmap]
rs6592451	1.00[CEU][hapmap];0.86[JPT][hapmap]
rs6592453	0.85[CEU][hapmap];0.86[JPT][hapmap]
rs6592455	0.85[CEU][hapmap];0.86[JPT][hapmap]
rs6592456	1.00[CEU][hapmap];0.93[JPT][hapmap];0.96[ASN][1000 genomes]
rs6592457	1.00[CEU][hapmap];0.86[JPT][hapmap];0.91[YRI][hapmap];0.96[ASN][1000 genomes]
rs659513	0.85[CEU][hapmap];0.86[JPT][hapmap]
rs661290	1.00[CEU][hapmap];0.93[JPT][hapmap];0.84[ASN][1000 genomes]
rs671132	0.82[ASN][1000 genomes]
rs671681	0.85[CEU][hapmap];0.87[JPT][hapmap]
rs673478	0.85[CEU][hapmap];0.86[JPT][hapmap]
rs674319	0.85[ASN][1000 genomes]
rs674735	0.85[CEU][hapmap]
rs679926	0.85[CEU][hapmap];0.86[JPT][hapmap]
rs686340	1.00[CEU][hapmap];0.93[JPT][hapmap];0.91[YRI][hapmap];0.82[ASN][1000 genomes]
rs7101553	0.89[ASN][1000 genomes]
rs7102192	0.85[CEU][hapmap]
rs7102523	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7102693	0.85[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs7103210	0.85[CEU][hapmap];0.87[JPT][hapmap]
rs7106653	0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7111379	1.00[CEU][hapmap];0.86[JPT][hapmap]
rs7113436	1.00[CEU][hapmap];0.92[JPT][hapmap];0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7113520	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7113549	0.85[CEU][hapmap];0.86[JPT][hapmap]
rs7115513	1.00[CEU][hapmap];0.80[CHB][hapmap];0.93[JPT][hapmap];0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7121080	1.00[CEU][hapmap];0.80[CHB][hapmap];0.93[JPT][hapmap];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7121260	0.85[CEU][hapmap];0.86[JPT][hapmap]
rs7123992	0.87[JPT][hapmap]
rs7126394	1.00[CEU][hapmap];0.80[CHB][hapmap];0.93[JPT][hapmap];0.89[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs7127865	0.85[CEU][hapmap];0.87[JPT][hapmap]
rs7128317	0.85[CEU][hapmap];0.86[JPT][hapmap]
rs7128974	0.85[CEU][hapmap];0.86[JPT][hapmap]
rs73531955	1.00[ASN][1000 genomes]
rs73543612	0.86[ASN][1000 genomes]
rs73543640	0.81[ASN][1000 genomes]
rs73543643	0.81[ASN][1000 genomes]
rs7924834	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7925411	0.82[CEU][hapmap];0.92[JPT][hapmap]
rs7925604	1.00[CEU][hapmap];0.80[CHB][hapmap];0.93[JPT][hapmap]
rs7930142	0.85[JPT][hapmap]
rs7930544	0.85[CEU][hapmap];0.88[JPT][hapmap]
rs7931941	0.85[CEU][hapmap];0.86[JPT][hapmap]
rs7937408	0.80[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs7937515	0.93[JPT][hapmap]
rs7938496	0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs7942626	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7948821	0.85[CEU][hapmap];0.86[JPT][hapmap]
rs7951564	0.92[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs947932	0.85[CEU][hapmap];0.87[JPT][hapmap]
rs949323	1.00[CEU][hapmap];0.92[JPT][hapmap];0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs949326	1.00[CEU][hapmap];0.85[JPT][hapmap];0.91[ASN][1000 genomes]
rs9666346	0.91[ASN][1000 genomes]
rs9735988	0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]

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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7106730	NUMA1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:71641000-71671000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr11:71641200-71650000	Weak transcription	Colonic Mucosa	Colon
3	chr11:71641200-71670800	Weak transcription	Fetal Muscle Trunk	muscle
4	chr11:71641200-71671400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr11:71641400-71651600	Weak transcription	Primary monocytes fromperipheralblood	blood
6	chr11:71641400-71652000	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr11:71641400-71658000	Weak transcription	Lung	lung
8	chr11:71641400-71661600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr11:71641400-71670800	Weak transcription	Esophagus	oesophagus
10	chr11:71641400-71671000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr11:71641400-71671000	Weak transcription	Fetal Thymus	thymus
12	chr11:71641400-71671400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr11:71641600-71654400	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr11:71641600-71654800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr11:71641600-71656800	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr11:71641600-71658000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr11:71641600-71659600	Weak transcription	Fetal Kidney	kidney
18	chr11:71641600-71670800	Weak transcription	Spleen	Spleen
19	chr11:71641600-71671400	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr11:71641600-71671600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr11:71641600-71671600	Weak transcription	Brain Germinal Matrix	brain
22	chr11:71641600-71671600	Weak transcription	Brain Hippocampus Middle	brain
23	chr11:71641600-71673400	Weak transcription	NHLF	lung
24	chr11:71641800-71651600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr11:71641800-71655800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr11:71641800-71671600	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr11:71642400-71671000	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr11:71642400-71671000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr11:71642600-71650800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
30	chr11:71642600-71655600	Weak transcription	HMEC	breast
31	chr11:71642600-71671000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr11:71642600-71671200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
33	chr11:71642800-71650800	Weak transcription	Fetal Heart	heart
34	chr11:71642800-71654000	Weak transcription	Brain Angular Gyrus	brain
35	chr11:71642800-71655800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
36	chr11:71642800-71671200	Weak transcription	Dnd41	blood
37	chr11:71642800-71671400	Weak transcription	Fetal Brain Female	brain
38	chr11:71643000-71651200	Weak transcription	Pancreatic Islets	Pancreatic Islet
39	chr11:71643000-71651600	Weak transcription	Aorta	Aorta
40	chr11:71643400-71655400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr11:71644200-71655400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr11:71644200-71665600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
43	chr11:71644600-71649400	Strong transcription	K562	blood
44	chr11:71645000-71650200	Weak transcription	Psoas Muscle	Psoas
45	chr11:71645400-71659000	Weak transcription	Primary hematopoietic stem cells	blood
46	chr11:71645600-71658400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr11:71645600-71658400	Weak transcription	Duodenum Mucosa	Duodenum
48	chr11:71645600-71659600	Weak transcription	Gastric	stomach
49	chr11:71645600-71671200	Weak transcription	Primary T helper cells PMA-I stimulated	--
50	chr11:71645800-71660200	Weak transcription	Thymus	Thymus

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