Variant report

Variant	rs7123992
Chromosome Location	chr11:71746447-71746448
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:71743810..71760160-chr11:71777190..71805714,79	MCF-7	breast:

Variant related genes	Relation type
ENSG00000137497	Chromatin interaction
ENSG00000184154	Chromatin interaction
ENSG00000212089	Chromatin interaction
ENSG00000263742	Chromatin interaction

Extended variants
information (count: 124 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:122)

rs_ID	r²[population]
rs10128658	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs10501408	0.82[CEU][hapmap]
rs1055452	0.82[CEU][hapmap];0.87[JPT][hapmap]
rs1057992	0.82[CEU][hapmap]
rs10736781	0.85[CEU][hapmap];0.94[CHB][hapmap];0.93[JPT][hapmap];0.96[YRI][hapmap]
rs10751189	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap]
rs10751191	0.82[CEU][hapmap];0.81[JPT][hapmap]
rs10793011	0.82[CEU][hapmap];0.81[JPT][hapmap]
rs10793016	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10898814	0.80[ASN][1000 genomes]
rs11235440	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap]
rs11235441	0.82[CEU][hapmap]
rs12272213	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap]
rs12293195	0.82[CEU][hapmap]
rs12293885	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1541304	0.82[CEU][hapmap];0.81[JPT][hapmap]
rs1541306	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap]
rs1548348	0.82[CEU][hapmap]
rs1573501	0.82[CEU][hapmap];0.81[JPT][hapmap]
rs1573502	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17161966	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17161980	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1892920	0.82[CEU][hapmap]
rs1892921	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1894004	0.82[CEU][hapmap]
rs1939242	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1939243	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs1939245	0.80[ASN][1000 genomes]
rs1939247	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs2155142	0.82[CEU][hapmap]
rs2155145	0.82[CEU][hapmap]
rs2187496	1.00[CEU][hapmap];0.93[JPT][hapmap]
rs2250866	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[JPT][hapmap]
rs2276384	0.82[CEU][hapmap]
rs2298456	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2298457	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2503	0.82[CEU][hapmap]
rs2508856	0.82[CEU][hapmap]
rs2511079	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2511114	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2885880	1.00[CEU][hapmap];0.86[JPT][hapmap]
rs3018301	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap]
rs3018302	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs3750908	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap]
rs3793938	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap]
rs3814721	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4121395	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4338555	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4387373	0.82[CEU][hapmap];0.81[JPT][hapmap]
rs4477459	0.81[JPT][hapmap]
rs493065	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4943821	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap]
rs4944232	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4944242	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4944243	0.82[CEU][hapmap];0.81[JPT][hapmap]
rs4944258	0.80[ASN][1000 genomes]
rs4945378	0.82[CEU][hapmap];0.81[JPT][hapmap]
rs4945392	0.82[CEU][hapmap]
rs4945426	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4945434	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs497761	0.82[CEU][hapmap]
rs510925	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs541022	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs542097	0.82[CEU][hapmap]
rs552966	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap]
rs560777	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs567026	0.82[CEU][hapmap]
rs575831	0.82[CEU][hapmap]
rs575871	0.82[CEU][hapmap]
rs577435	0.82[CEU][hapmap]
rs579320	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs585228	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs595062	0.82[CEU][hapmap];0.81[JPT][hapmap]
rs607446	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs610004	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs610041	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs612255	0.82[CEU][hapmap];0.80[JPT][hapmap]
rs615000	0.85[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap]
rs642573	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs642618	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap]
rs6592447	0.82[CEU][hapmap]
rs6592448	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6592449	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6592450	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap]
rs6592451	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6592453	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6592455	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6592456	0.82[CEU][hapmap];0.81[JPT][hapmap]
rs6592457	0.82[CEU][hapmap]
rs659513	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs661290	0.82[CEU][hapmap];0.81[JPT][hapmap]
rs671681	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs673478	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs674735	1.00[CEU][hapmap]
rs679926	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs686340	0.82[CEU][hapmap]
rs7102192	1.00[CEU][hapmap];0.94[CHB][hapmap];0.86[JPT][hapmap]
rs7103210	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7106730	0.87[JPT][hapmap]
rs7111379	0.82[CEU][hapmap]
rs7113436	0.82[CEU][hapmap]
rs7113549	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap]
rs7115513	0.82[CEU][hapmap];0.81[JPT][hapmap]
rs7121080	0.82[CEU][hapmap];0.81[JPT][hapmap]
rs7121260	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7126394	0.82[CEU][hapmap];0.81[JPT][hapmap]
rs7127865	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7128317	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7128974	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7924834	0.82[CEU][hapmap];0.85[JPT][hapmap]
rs7925604	0.82[CEU][hapmap];0.81[JPT][hapmap]
rs7930142	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs7930544	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs7930721	0.80[ASN][1000 genomes]
rs7930722	0.80[ASN][1000 genomes]
rs7931941	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap]
rs7937515	0.93[JPT][hapmap];0.84[YRI][hapmap]
rs7937582	0.80[ASN][1000 genomes]
rs7948821	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs947932	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs949323	0.82[CEU][hapmap]
rs949326	0.82[CEU][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:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7123992	NUMA1	cis	uninvolved skin	skin_eQTL
rs7123992	NUMA1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:71709800-71748000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr11:71710800-71748000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr11:71711000-71748800	Strong transcription	Dnd41	blood
4	chr11:71711400-71747600	Strong transcription	Fetal Thymus	thymus
5	chr11:71711600-71747800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr11:71725600-71747400	Strong transcription	Thymus	Thymus
7	chr11:71727800-71750200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr11:71730600-71748800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr11:71735400-71750000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr11:71735800-71750000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr11:71736400-71747200	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
12	chr11:71736400-71748000	Genic enhancers	Primary T helper cells PMA-I stimulated	--
13	chr11:71736600-71747800	Strong transcription	Primary B cells from cord blood	blood
14	chr11:71736600-71748000	Genic enhancers	Primary T helper cells fromperipheralblood	blood
15	chr11:71737400-71747000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr11:71737400-71748000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr11:71737600-71747200	Strong transcription	HUES48 Cell Line	embryonic stem cell
18	chr11:71737600-71747200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr11:71737800-71747600	Strong transcription	Placenta	Placenta
20	chr11:71738000-71748200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr11:71738200-71747200	Strong transcription	HUES64 Cell Line	embryonic stem cell
22	chr11:71738400-71747200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr11:71738600-71749600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr11:71739400-71747600	Strong transcription	Primary neutrophils fromperipheralblood	blood
25	chr11:71740200-71747400	Weak transcription	Fetal Heart	heart
26	chr11:71740400-71746800	Weak transcription	Aorta	Aorta
27	chr11:71740400-71747800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr11:71740400-71748800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr11:71740400-71750000	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr11:71740400-71750400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr11:71740600-71746800	Weak transcription	Fetal Brain Male	brain
32	chr11:71740600-71747600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr11:71740600-71747800	Weak transcription	Esophagus	oesophagus
34	chr11:71740800-71747200	Weak transcription	Stomach Mucosa	stomach
35	chr11:71741400-71747600	Strong transcription	Osteobl	bone
36	chr11:71741600-71747800	Strong transcription	GM12878-XiMat	blood
37	chr11:71742000-71747200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr11:71742000-71747600	Weak transcription	Psoas Muscle	Psoas
39	chr11:71742200-71746600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr11:71742200-71746800	Weak transcription	Brain Angular Gyrus	brain
41	chr11:71742200-71746800	Strong transcription	Skeletal Muscle Female	skeletal muscle
42	chr11:71742200-71747000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr11:71742200-71747400	Strong transcription	Cortex derived primary cultured neurospheres	brain
44	chr11:71742200-71747400	Weak transcription	Pancreatic Islets	Pancreatic Islet
45	chr11:71742200-71747600	Strong transcription	Rectal Mucosa Donor 29	rectum
46	chr11:71742400-71747600	Strong transcription	Fetal Muscle Leg	muscle
47	chr11:71742800-71746800	Strong transcription	Sigmoid Colon	Sigmoid Colon
48	chr11:71742800-71747000	Strong transcription	Fetal Stomach	stomach
49	chr11:71742800-71747200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr11:71742800-71747200	Strong transcription	Fetal Muscle Trunk	muscle

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