Variant report

Variant	rs73449983
Chromosome Location	chr11:46612332-46612333
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:46612073..46617371-chr11:46634890..46640526,10	MCF-7	breast:
2	chr11:46610510..46612545-chr11:46612997..46615426,4	MCF-7	breast:
3	chr11:46609320..46612580-chr11:46612925..46615505,3	K562	blood:
4	chr11:46610656..46614165-chr11:46614345..46616475,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000180423	Chromatin interaction
ENSG00000175224	Chromatin interaction
ENSG00000110497	Chromatin interaction

Extended variants
information (count: 112 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10160701	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10838602	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11038897	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11038900	0.91[EUR][1000 genomes]
rs11038906	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11038914	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11038919	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11038927	0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11819869	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12272795	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12283172	0.93[EUR][1000 genomes]
rs12292425	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12295266	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12573978	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12574250	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12574259	0.82[EUR][1000 genomes]
rs12574668	0.90[EUR][1000 genomes]
rs12574918	0.80[EUR][1000 genomes]
rs12575519	0.91[EUR][1000 genomes]
rs12576115	0.88[EUR][1000 genomes]
rs12576317	0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12576359	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12577142	0.90[EUR][1000 genomes]
rs12578042	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1472001	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1489192	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs16938506	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17197116	0.84[ASN][1000 genomes]
rs2046768	0.93[EUR][1000 genomes]
rs2067482	0.93[EUR][1000 genomes]
rs2171667	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2171668	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2279465	0.93[EUR][1000 genomes]
rs2291487	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2864072	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2864076	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2902858	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34406563	0.89[EUR][1000 genomes]
rs35623865	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3740974	0.93[EUR][1000 genomes]
rs3740977	0.92[EUR][1000 genomes]
rs3802888	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4307676	0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4319473	0.81[EUR][1000 genomes]
rs4423142	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs55657382	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs55661562	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs55750336	0.84[ASN][1000 genomes]
rs55896955	0.87[EUR][1000 genomes]
rs56349329	0.84[EUR][1000 genomes]
rs57535407	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs57739486	0.80[EUR][1000 genomes]
rs57744667	0.84[EUR][1000 genomes]
rs58147945	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs59319338	0.90[EUR][1000 genomes]
rs60722866	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs60932698	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61882678	0.85[EUR][1000 genomes]
rs61882682	0.91[EUR][1000 genomes]
rs61882683	0.86[EUR][1000 genomes]
rs61882691	0.93[EUR][1000 genomes]
rs61882701	0.93[EUR][1000 genomes]
rs61882702	0.93[EUR][1000 genomes]
rs61882706	0.92[EUR][1000 genomes]
rs61882709	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61882710	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61882711	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61882712	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61882720	0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61882743	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61882746	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61882748	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61882750	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61882756	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61882757	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61882758	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61884262	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61884264	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61884271	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61884273	0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61884274	0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61884292	0.87[EUR][1000 genomes]
rs61884295	0.84[EUR][1000 genomes]
rs6485682	0.93[EUR][1000 genomes]
rs6485685	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7108770	0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7109698	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7112229	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7122039	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7125907	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7126316	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7126343	0.94[EUR][1000 genomes]
rs7127529	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7128092	0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7130141	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7481312	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7484002	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs756343	0.84[ASN][1000 genomes]
rs7924401	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7926389	0.82[EUR][1000 genomes]
rs7930103	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7932866	0.83[EUR][1000 genomes]
rs7936413	0.93[EUR][1000 genomes]
rs7946705	0.93[EUR][1000 genomes]
rs7951579	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7951870	0.92[EUR][1000 genomes]
rs876701	0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044225	chr11:46472580-46771102	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv541030	chr11:46472580-46771102	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv1046990	chr11:46501436-46669636	Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	nsv541031	chr11:46501436-46669636	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
5	nsv897321	chr11:46515902-46673344	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:46568800-46612600	Weak transcription	Brain Germinal Matrix	brain
2	chr11:46583000-46613000	Weak transcription	Fetal Muscle Trunk	muscle
3	chr11:46583200-46613800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr11:46583600-46612400	Weak transcription	Primary B cells from cord blood	blood
5	chr11:46584000-46613600	Weak transcription	Primary hematopoietic stem cells	blood
6	chr11:46586600-46613800	Weak transcription	NH-A	brain
7	chr11:46587800-46613200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr11:46589000-46614000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr11:46589600-46613000	Weak transcription	Fetal Muscle Leg	muscle
10	chr11:46589600-46613000	Weak transcription	Fetal Stomach	stomach
11	chr11:46589600-46614000	Weak transcription	Fetal Intestine Large	intestine
12	chr11:46592800-46612600	Weak transcription	Fetal Lung	lung
13	chr11:46592800-46613600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr11:46593000-46612600	Weak transcription	HSMMtube	muscle
15	chr11:46596800-46614000	Weak transcription	Primary B cells from peripheral blood	blood
16	chr11:46597000-46613000	Weak transcription	Lung	lung
17	chr11:46598200-46612800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr11:46598200-46612800	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr11:46598200-46614000	Weak transcription	Primary monocytes fromperipheralblood	blood
20	chr11:46598400-46612800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr11:46599000-46614200	Weak transcription	Primary neutrophils fromperipheralblood	blood
22	chr11:46600600-46612600	Weak transcription	Fetal Brain Female	brain
23	chr11:46601400-46612400	Weak transcription	HMEC	breast
24	chr11:46601600-46612600	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr11:46602600-46613000	Weak transcription	Placenta	Placenta
26	chr11:46603600-46612400	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr11:46603800-46613800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr11:46604200-46613600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr11:46604600-46612400	Weak transcription	A549	lung
30	chr11:46606400-46613600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr11:46606600-46612600	Weak transcription	GM12878-XiMat	blood
32	chr11:46606600-46614600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr11:46606800-46614000	Weak transcription	Right Ventricle	heart
34	chr11:46608400-46613800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr11:46608600-46612600	Weak transcription	HSMM	muscle
36	chr11:46609600-46613800	Enhancers	Primary T helper cells fromperipheralblood	blood
37	chr11:46609800-46612600	Weak transcription	Skeletal Muscle Female	skeletal muscle
38	chr11:46610000-46612400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
39	chr11:46610000-46612600	Weak transcription	Fetal Intestine Small	intestine
40	chr11:46610400-46613000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr11:46610400-46614200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
42	chr11:46610400-46614200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
43	chr11:46610400-46614600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
44	chr11:46610800-46614400	Enhancers	Brain Hippocampus Middle	brain
45	chr11:46611000-46612600	Weak transcription	Fetal Heart	heart
46	chr11:46611000-46612600	Weak transcription	Pancreatic Islets	Pancreatic Islet
47	chr11:46611000-46614200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
48	chr11:46611200-46612600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
49	chr11:46611200-46612600	Weak transcription	Brain Anterior Caudate	brain
50	chr11:46611200-46612600	Weak transcription	Stomach Mucosa	stomach

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