Variant report

Variant	rs7951564
Chromosome Location	chr11:71656206-71656207
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:71650756..71652380-chr11:71654533..71657023,3	K562	blood:
2	chr11:71654518..71657892-chr11:71675208..71678197,3	MCF-7	breast:
3	chr11:71653405..71656260-chr11:71657576..71659642,2	MCF-7	breast:
4	chr11:71641143..71643109-chr11:71654078..71656466,2	MCF-7	breast:
5	chr11:71649689..71653296-chr11:71656183..71659573,4	MCF-7	breast:
6	chr11:71648762..71653405-chr11:71655542..71658221,6	MCF-7	breast:
7	chr11:71656068..71658326-chr11:71664817..71667700,2	K562	blood:
8	chr11:71636451..71639692-chr11:71654710..71658319,3	MCF-7	breast:
9	chr11:71639007..71647132-chr11:71654924..71662463,14	MCF-7	breast:
10	chr11:71644522..71646628-chr11:71653948..71656589,2	MCF-7	breast:
11	chr11:71627212..71629834-chr11:71654212..71656346,2	MCF-7	breast:
12	chr11:71655022..71660498-chr11:71666064..71670761,5	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000255296	Chromatin interaction
ENSG00000137522	Chromatin interaction
ENSG00000254469	Chromatin interaction

Extended variants
information (count: 86 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:82)

rs_ID	r²[population]
rs10450664	0.92[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs10501408	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs1057992	0.92[ASN][1000 genomes]
rs10736780	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs10736783	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs10751188	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs10751191	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs10751192	0.84[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs10793011	0.90[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs10793013	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs10793014	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs10793015	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs10898812	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs12272086	0.82[ASN][1000 genomes]
rs1541304	0.95[ASN][1000 genomes]
rs1548348	0.90[ASN][1000 genomes]
rs1573501	0.92[ASN][1000 genomes]
rs1573503	0.95[ASN][1000 genomes]
rs17161751	0.81[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs1791456	0.85[ASN][1000 genomes]
rs1892920	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs1894004	0.87[ASN][1000 genomes]
rs2155142	0.92[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2155145	0.92[ASN][1000 genomes]
rs2155146	0.92[ASN][1000 genomes]
rs2276384	0.82[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2503	0.92[ASN][1000 genomes]
rs2508856	0.81[ASN][1000 genomes]
rs2735787	0.92[ASN][1000 genomes]
rs2845860	0.89[ASN][1000 genomes]
rs2852365	0.95[ASN][1000 genomes]
rs3018310	0.85[ASN][1000 genomes]
rs3829215	0.96[ASN][1000 genomes]
rs4245463	0.92[ASN][1000 genomes]
rs4269951	0.88[ASN][1000 genomes]
rs4378421	0.85[ASN][1000 genomes]
rs4387373	0.81[ASN][1000 genomes]
rs4399349	0.97[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs4412771	0.82[ASN][1000 genomes]
rs4477459	0.92[ASN][1000 genomes]
rs482197	0.81[ASN][1000 genomes]
rs488829	0.85[ASN][1000 genomes]
rs492135	0.86[ASN][1000 genomes]
rs4944243	0.94[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs4945378	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs4945382	0.89[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs4945391	0.86[ASN][1000 genomes]
rs4945392	0.84[AFR][1000 genomes];0.82[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs518959	0.84[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs538569	0.83[ASN][1000 genomes]
rs542097	0.85[ASN][1000 genomes]
rs56255748	0.82[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs564294	0.85[ASN][1000 genomes]
rs567026	0.85[ASN][1000 genomes]
rs567851	0.85[ASN][1000 genomes]
rs592051	0.80[ASN][1000 genomes]
rs595062	0.82[ASN][1000 genomes]
rs645603	0.85[ASN][1000 genomes]
rs6592447	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs6592456	0.92[ASN][1000 genomes]
rs6592457	0.92[ASN][1000 genomes]
rs661290	0.80[ASN][1000 genomes]
rs674319	0.81[ASN][1000 genomes]
rs7101553	0.85[ASN][1000 genomes]
rs7102523	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs7106653	0.94[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs7106730	0.92[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs7113436	0.85[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs7113520	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs7115513	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs7121080	0.82[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs7126394	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs73531955	0.85[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs73543612	0.82[ASN][1000 genomes]
rs7924834	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs7937408	0.82[ASN][1000 genomes]
rs7938496	0.86[ASN][1000 genomes]
rs7942626	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs949323	0.90[ASN][1000 genomes]
rs949326	0.88[ASN][1000 genomes]
rs9666346	0.87[ASN][1000 genomes]
rs9735988	0.85[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
rs7951564	NUMA1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:97 , 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	chr11:71641400-71658000	Weak transcription	Lung	lung
5	chr11:71641400-71661600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr11:71641400-71670800	Weak transcription	Esophagus	oesophagus
7	chr11:71641400-71671000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr11:71641400-71671000	Weak transcription	Fetal Thymus	thymus
9	chr11:71641400-71671400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr11:71641600-71656800	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr11:71641600-71658000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr11:71641600-71659600	Weak transcription	Fetal Kidney	kidney
13	chr11:71641600-71670800	Weak transcription	Spleen	Spleen
14	chr11:71641600-71671400	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr11:71641600-71671600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr11:71641600-71671600	Weak transcription	Brain Germinal Matrix	brain
17	chr11:71641600-71671600	Weak transcription	Brain Hippocampus Middle	brain
18	chr11:71641600-71673400	Weak transcription	NHLF	lung
19	chr11:71641800-71671600	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr11:71642400-71671000	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr11:71642400-71671000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr11:71642600-71671000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr11:71642600-71671200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
24	chr11:71642800-71671200	Weak transcription	Dnd41	blood
25	chr11:71642800-71671400	Weak transcription	Fetal Brain Female	brain
26	chr11:71644200-71665600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
27	chr11:71645400-71659000	Weak transcription	Primary hematopoietic stem cells	blood
28	chr11:71645600-71658400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr11:71645600-71658400	Weak transcription	Duodenum Mucosa	Duodenum
30	chr11:71645600-71659600	Weak transcription	Gastric	stomach
31	chr11:71645600-71671200	Weak transcription	Primary T helper cells PMA-I stimulated	--
32	chr11:71645800-71660200	Weak transcription	Thymus	Thymus
33	chr11:71645800-71660800	Weak transcription	Primary neutrophils fromperipheralblood	blood
34	chr11:71645800-71671400	Weak transcription	Primary T helper cells fromperipheralblood	blood
35	chr11:71646000-71656600	Weak transcription	Fetal Intestine Small	intestine
36	chr11:71646000-71658400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr11:71646600-71658000	Weak transcription	Fetal Intestine Large	intestine
38	chr11:71646600-71658000	Weak transcription	Sigmoid Colon	Sigmoid Colon
39	chr11:71648400-71659400	Weak transcription	Ovary	ovary
40	chr11:71648800-71671600	Weak transcription	Rectal Smooth Muscle	rectum
41	chr11:71649000-71658800	Weak transcription	Rectal Mucosa Donor 29	rectum
42	chr11:71649000-71659600	Weak transcription	Fetal Lung	lung
43	chr11:71649000-71662600	Weak transcription	Brain Cingulate Gyrus	brain
44	chr11:71649200-71658400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
45	chr11:71649200-71658400	Weak transcription	Rectal Mucosa Donor 31	rectum
46	chr11:71649200-71659600	Weak transcription	Left Ventricle	heart
47	chr11:71649200-71662400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
48	chr11:71649200-71666400	Weak transcription	Primary B cells from cord blood	blood
49	chr11:71649200-71670800	Weak transcription	Fetal Stomach	stomach
50	chr11:71649200-71671000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood

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